| Gene Name | Location | Protein Effect | DNA Change | Protein Change | Reference | Admin |
|---|
|
| | | | | - |
Showing 1 to 329 of 329. |
|---|
| ENG | | | test | test | 1, 2, 91 | Details |
| ENG | 5'UTR | Splice Defect | c.1-10C>T | Unknown | 69 | Details |
| ENG | 5'UTR 01 | Deletion/Frameshift | c.1-?_67+?del | deletion exon 01 | 69 | Details |
| ENG | Exon 01 | Missense | c.1A>G | p.Met1Val | 47, 65, 78 | Details |
| ENG | Exon 01 | In-frame Deletion | c.1-?_360+?del | Unknown | 72 | Details |
| ENG | Exon 01 | Missense | c.2T>C | p.Met1Thr | 6, 8, 66, 70 | Details |
| ENG | Exon 01 | Missense | c.2T>G | p.Met1Arg | 35, 57, 58 | Details |
| ENG | Exon 01 | Missense | c.3G>A | p.Met1Ile | | Details |
| ENG | Exon 01 | Missense | c.7C>T | p.Arg3Cys | | Details |
| ENG | Exon 01 | Missense | c.23T>C | p.Leu8Pro | 35, 64, 74, 75 | Details |
| ENG | Exon 01 | Missense | c.32C>A | p.Ala11Asp | 69 | Details |
| ENG | Exon 01 | Insertion/Frameshift | c.34_35insGGCTGTTGCC ... | p.Leu12fsX45 ... | 66, 78 | Details |
| ENG | Exon 01 | Insertion/Frameshift | c.41_42insTGGCCAGCTG ... | p.Ser18fsX46 ... | 78 | Details |
| ENG | Exon 01 | Deletion/Frameshift | c.63delC | p.Thr22fs | 16, 28, 48, 65, 70 | Details |
| ENG | Intron 01 | Splice Defect | c.67+5G>A | p.Met1fs | 73 | Details |
| ENG | Intron 01 | Splice Defect | c.67+1G>A | p.Met1fs | 12, 47, 70 | Details |
| ENG | Intron 01 | Splice Defect | c.67+3A>T | Unknown | 69 | Details |
| ENG | Intron 01 | Splice Defect | c.68G>A | p.Ser23fs | 3, 62, 67 | Details |
| ENG | Intron 01 | Splice Defect | c.68_219del | p.Ser23fs | 3, 15 | Details |
| ENG | Intron 01 | Large Deletion | c.68-?_?del | deletion exon02-09 | 69 | Details |
| ENG | Intron 01 | Splice Defect | c.68-1G>A | Unknown | 35, 69 | Details |
| ENG | Exon 02 | In-frame Insertion | c.68_523dup | p.Gly23_Gln174dup | 73 | Details |
| ENG | Exon 02 | Unknown | c.77delA | p.Glu26fsX42 | 80 | Details |
| ENG | Exon 02 | Nonsense | c.90T>A | p.Cys30X | 57 | Details |
| ENG | Exon 02 | Missense | c.95T>G | p.Leu32Arg | 13, 55, 69, 70, 78 | Details |
| ENG | Exon 02 | Unknown | c.96_102delTCAGCCT | p.Leu32fsX40 | 80 | Details |
| ENG | Exon 02 | Nonsense | c.97C>T | p.Gln33X | 65, 80 | Details |
| ENG | Exon 02 | Deletion/Frameshift | c.107delG | p.Gly36fs | 60 | Details |
| ENG | Exon 02 | Deletion/Frameshift | c.115delA | p.Arg39fsX42 | 15 | Details |
| ENG | Exon 02 | Nonsense | c.121G>T | p.Glu41X | 15 | Details |
| ENG | Exon 02 | Nonsense | c.142C>T | p.Gln48X | 47 | Details |
| ENG | Exon 02 | Missense | c.145G>T | p.Val49Phe | 35, 80 | Details |
| ENG | Exon 02 | Missense | c.154G>C | p.Gly52Arg | 68 | Details |
| ENG | Exon 02 | Missense | c.155G>T | p.Gly52Val | 5, 6, 7, 86 | Details |
| ENG | Exon 02 | Missense | c.155G>A | p.Gly52Asp | 13, 50, 68 | Details |
| ENG | Exon 02 | Missense | c.157T>C | p.Cys53Arg | 6, 7, 8, 52, 56, 66 | Details |
| ENG | Exon 02 | Nonsense | c.159C>A | p.Cys53X | 47 | Details |
| ENG | Exon 02 | Nonsense | c.166C>T | p.Gln56X | 69, 81 | Details |
| ENG | Exon 02 | Insertion/Frameshift | c.195_196dupT | p.His65fsX148 | 35, 60, 72, 76 | Details |
| ENG | Exon 02 | None | c.210delG | p.Leu69fsX80 | 80 | Details |
| ENG | exon 02 | Insertion/Frameshift | c.212_219+6del14bp | p.F71fs | | Details |
| ENG | Exon 02 | Deletion/Frameshift | c.214_215delCC | p.Pro72AsnfsX76 | | Details |
| ENG | Exon 02 | Splice Defect | c.219G>A | p.T73T, skip exon 2 p.Ser23fs | 78 | Details |
| ENG | Exon 02 | Complex | del exon 02&09B | rearrangement | 69 | Details |
| ENG | Intron 02 | Splice Defect | c.219+5G>C | Unknown | 72 | Details |
| ENG | Intron 02 | Splice Defect | c.219+5G>A | p.Ser23fs | 15, 61 | Details |
| ENG | Intron 02 | Large Deletion | c.220-?_360+?del | deletion exon 03 | 69 | Details |
| ENG | Exon 03 | Nonsense | c.229C>T | p.Gln77X | 16, 49, 51, 52, 53, 59, 63, 65, 73 | Details |
| ENG | Exon 03 | Nonsense | c.247C>T | p.Gln83X | 47 | Details |
| ENG | Exon 03 | Insertion/Frameshift | c.258_276dupCAAAATGG ... | p.Lys85_Gln86dupQNGT ... | 49 | Details |
| ENG | Exon 03 | Nonsense | c.273_274GC>AA | p.Trp91X | | Details |
| ENG | Exon 03 | Deletion/Frameshift | c.277delC | p.Arg93fs | 60 | Details |
| ENG | Exon 03 | Nonsense | c.277C>T | p.Arg93X | 8, 47, 49, 69, 72, 74, 78, 80 | Details |
| ENG | Exon 03 | Missense | c.287T>C | p.Leu96Pro | 65 | Details |
| ENG | Exon 03 | Deletion/Frameshift | c.298_299delAG | p.Ser100CysfsX48 | | Details |
| ENG | Exon 03 | Deletion/Frameshift | c.305delA | p.Asn102ThrfsX61 | | Details |
| ENG | Exon 03 | In-frame Deletion | c.309_311delCAG | p.Ser104del | 65 | Details |
| ENG | Exon 03 | Missense | c.314T>A | p.Val105Asp | 69 | Details |
| ENG | Exon 03 | Missense | c.320T>G | p.Leu107Arg | 35 | Details |
| ENG | Exon 03 | Insertion/Frameshift | c.324dupT | p.Leu109fs | 60 | Details |
| ENG | Exon 03 | Deletion/Frameshift | c.326_327delTC | p.Leu109fs | 68 | Details |
| ENG | Exon 03 | Deletion/Frameshift | c.332_338delCCCTGGG | p.Ala111fs | 47 | Details |
| ENG | Exon 03 | Unknown | c.338delG | p.Leu112fsX147 | 80 | Details |
| ENG | Exon 03 | Deletion/Frameshift | c.344delC | p.Pro115fs | 81 | Details |
| ENG | Exon 03 | Nonsense | c.360C>A | p.Tyr120X | 49, 64 | Details |
| ENG | Intron 03 | Splice Defect | c.360+4_7delAGTG | unknown | 78, 80 | Details |
| ENG | Intron 03 | Splice Defect | c.360+4A>G | p.Gly74_Tyr120del | 3 | Details |
| ENG | Intron 03 | Splice Defect | c.360+1G>C | p.Gly74_Tyr120del | 59 | Details |
| ENG | Intron 03 | Splice Defect | c.360+5G>A | Unknown | 47 | Details |
| ENG | Intron 03 | Splice Defect | c.360+1G>A | p.Gly74_Tyr120del | 5, 8, 15, 47, 52, 60, 66, 69, 80 | Details |
| ENG | Intron 03 | Splice Defect | c.361-2A>C | Unknown | 64 | Details |
| ENG | Intron 03 | Large Insertion | c.361-?_1134+?dup | Unknown | 72 | Details |
| ENG | Intron 03 | Large Deletion | c.361-?_523+?del | deletion exon 04 | 69 | Details |
| ENG | Intron 03 | Splice Defect | c.361-2A>G | Unknown | 3, 49 | Details |
| ENG | Intron 03 | Large Deletion | c.361-?_816+?del | deletion exon04-06 | 69 | Details |
| ENG | Exon 04 | Missense | c.374T>A | p.Val125Asp | 13, 69 | Details |
| ENG | Exon 04 | Deletion/Frameshift | c.392delC | p.Pro131fs | 68 | Details |
| ENG | Exon 04 | Missense | c.392C>T | p.Pro131Leu | 15, 47, 48, 49, 64, 67 | Details |
| ENG | Exon 04 | Nonsense | c.447G>A | p.Trp149X | 69 | Details |
| ENG | Exon 04 | Missense | c.447G>C | p.Trp149Cys | 6, 10, 69 | Details |
| ENG | Exon 04 | Deletion/Frameshift | c.461delG | p.Gly154fsX162 | 35 | Details |
| ENG | Exon 04 | Deletion/Frameshift | c.472_472delCT | p.Ser158fsX160 | 78 | Details |
| ENG | Exon 04 | Deletion/Frameshift | c.473_474delCT | p.S158fsX160 | | Details |
| ENG | Exon 04 | Missense | c.479C>A | p.Ala160Asp | 4, 13 | Details |
| ENG | Exon 04 | Missense | c.494C>T | p.Pro165Leu | 15 | Details |
| ENG | Exon 04 | Unknown | c.495_496delCC | p.Pro165fsX332 | 80 | Details |
| ENG | Exon 04 | Deletion/Frameshift | c.496delC | p.Gln166fsX221 | 35 | Details |
| ENG | Exon 04 | Insertion/Frameshift | c.496dupC | p.Gln166fs | 60 | Details |
| ENG | Exon 04 | Insertion/Frameshift | c.497_498insC | p.Gln166fs | 47 | Details |
| ENG | Exon 04 | Nonsense | c.511C>T | p.Arg171X | 3, 16, 35, 57, 62, 63, 65, 66, 67, 69 | Details |
| ENG | Exon 04 | Splice Defect | c.523G>C | p.Asn121fs | 15 | Details |
| ENG | Exon 04 | Missense | c.523G>A | p.Ala175Glu | 69 | Details |
| ENG | Intron 04 | Splice Defect | c.524-2A>G | p.Asn121fs | 6, 66, 78 | Details |
| ENG | Intron 04 | Splice Defect | c.524-1G>A | Unknown | | Details |
| ENG | Intron 04 | Deletion/Frameshift | c.524_689del | p.Ala175fs | 15 | Details |
| ENG | Exon 05 | Nonsense | c.526C>T | p.Q176X | | Details |
| ENG | Exon 05 | Nonsense | c.526C>T | p.Glu176X | 80 | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.537_538delGT | p.Ser180fs | 69 | Details |
| ENG | Exon 05 | Insertion/Frameshift | c.562_563insC | p.Gln188fsX359 | 15 | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.574delC | p.ArgfsX221 | 80 | Details |
| ENG | Exon 05 | In-frame Deletion | c.576_596del21 | p.Arg192_Pro198del | 3 | Details |
| ENG | Exon 05 | Insertion/Frameshift | c.577_578insGC | p.Thr193fs | 47 | Details |
| ENG | Exon 05 | In-frame Insertion | c.577_582delACGCTCin ... | p.T193_L194delinsVLQ ... | 81 | Details |
| ENG | Exon 05 | Insertion/Frameshift | c.580_581insACGC | p.Leu194fsX334 | 8 | Details |
| ENG | Exon 05 | Missense | c.581T>C | p.Leu194Pro | 15 | Details |
| ENG | Exon 05 | Missense | c.586T>C | p.Trp196Arg | 52, 66 | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.586_604delTGGCGGCC ... | p.Trp196fs ... | 48 | Details |
| ENG | Exon 05 | Nonsense | c.587G>A | p.Trp196X | 2, 8, 69 | Details |
| ENG | Exon 05 | Nonsense | c.588G>A | p.Trp196X | 15 | Details |
| ENG | Exon 05 | Missense | c.590G>C | p.Arg197Pro | 80 | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.591_619del29 | p.Pro198fsX125 | 16, 65 | Details |
| ENG | Exon 05 | Insertion/Frameshift | c.596_597insCG | p.Arg199fs | 52, 66 | Details |
| ENG | Exon 05 | InDel/Frameshift | c.604_607delinsCCC | p.Ala202ProfsX20 | | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.617delG | p.Gly206Alafs | | Details |
| ENG | Exon 05 | In-frame Deletion | c.619_621delTGC | p.Cys207del | 35 | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.640_644delGGCC | p.Gly214fs | 52, 66, 69 | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.644delA | p.His215fs | 81 | Details |
| ENG | Exon 05 | Unknown | c.646A>G | | | Details |
| ENG | exon 05 | Missense | c.646A>G | p.K216Q | | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.647delA | p.Lys216fs | 69 | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.653insC | p.His219fs | 69 | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.657_658delCA | p.Ile220fsX332 | 11 | Details |
| ENG | Exon 05 | Missense | c.659T>C | p.Ile220Thr | 69, 78 | Details |
| ENG | Exon 05 | Missense | c.662T>C | p.Leu221Pro | 7, 60, 61, 69, 78 | Details |
| ENG | Exon 05 | Deletion/Frameshift | c.682_686delTCGGC | p.Ser228fs | 50 | Details |
| ENG | Intron 05 | Splice Defect | c.689+2T>C | p.Gly230fs | 35, 47 | Details |
| ENG | Intron 05 | Splice Defect | c.689+1_689+17del | unknown | | Details |
| ENG | Intron 05 | Splice Defect | c.690-2A>T | p.Gly230fs | 8 | Details |
| ENG | Intron 05 | Splice Defect | c.690-1G>A | unknown | 81 | Details |
| ENG | Exon 06 | In-frame Deletion | c.694_699delCGGACG | p.Arg232_Thr233del | 35 | Details |
| ENG | Exon 06 | Insertion/Frameshift | c.701_702insACGG | p.Val234fs | 47 | Details |
| ENG | Exon 06 | Deletion/Frameshift | c.704delC | p.Thr235fs | 60 | Details |
| ENG | Exon 06 | Nonsense | c.715G>T | p.Glu239X | 48 | Details |
| ENG | Exon 06 | Insertion/Frameshift | c.715_716insG | p.Glu239fs | 73 | Details |
| ENG | Exon 06 | Insertion/Frameshift | c.716_717dupG | p.Glu239fs | 69 | Details |
| ENG | Exon 06 | Deletion/Frameshift | c.733delG | p.Gly245fs | 47 | Details |
| ENG | Exon 06 | Deletion/Frameshift | c.736delG | p.Asp246fs | 15, 69 | Details |
| ENG | Exon 06 | Missense | c.738T>A | p.Asp246Gln | | Details |
| ENG | Exon 06 | Deletion/Frameshift | c.740delT | p.Asp248fs | 69 | Details |
| ENG | Exon 06 | In-frame Deletion | c.751_753delCTC | p.Leu251del | 68 | Details |
| ENG | Exon 06 | Insertion/Frameshift | c.761_767dupAGGGTCC | p.Pro257GlyfsX79 | | Details |
| ENG | Exon 06 | Missense | c.764G>A | p.Gly255Asp | | Details |
| ENG | Exon 06 | Missense | c.764G>T | p.Gly255Val | | Details |
| ENG | Exon 06 | Insertion/Frameshift | c.766_767insC | p.Pro256fs | 47 | Details |
| ENG | Exon 06 | Insertion/Frameshift | c.771dupC | p.Tyr258LeufsX76 | 35, 65 | Details |
| ENG | exon 06 | Insertion/Frameshift | c.771dupC | Y258fs | | Details |
| ENG | Exon 06 | Deletion/Frameshift | c.771delC | p.Pro257fsX358 | 78 | Details |
| ENG | Exon 06 | Deletion/Frameshift | c.772delT | p.Tyr258fs | 67, 80 | Details |
| ENG | Exon 06 | Insertion/Frameshift | c.772_773insC | p.Tyr258fs | 35, 69 | Details |
| ENG | Exon 06 | Nonsense | c.774C>G | p.Tyr258X | 80 | Details |
| ENG | Exon 06 | Deletion/Frameshift | c.775delG | p.Val259fs | 60 | Details |
| ENG | Exon 06 | Missense | c.778T>C | p.Ser260Pro | 68 | Details |
| ENG | Exon 06 | Insertion/Frameshift | c.780ins8 | p.Ser260fsX358 | 74 | Details |
| ENG | Exon 06 | Missense | c.781T>C | p.Trp261Arg | 47 | Details |
| ENG | Exon 06 | Nonsense | c.782G>A | p.Trp261X | 13, 48 | Details |
| ENG | Exon 06 | Deletion/Frameshift | c.785_789delTCATC | p.Leu262fsX331 | 35 | Details |
| ENG | Exon 06 | In-frame Deletion | c.787_789delATC | p.Ile263del | 35, 47, 61, 69, 72 | Details |
| ENG | Exon 06 | Missense | c.788T>C | p.Ile263Thr | 35 | Details |
| ENG | Exon 06 | Missense | c.790G>A | p.Asp264Asn | 47, 65 | Details |
| ENG | exon 06 | Missense | c.812 T>A | p.I271N | | Details |
| ENG | Intron 06 | Splice Defect | c.816+2T>A | Unknown | 65 | Details |
| ENG | Intron 06 | Splice Defect | c.816+2T>C | Unknown | 60, 69 | Details |
| ENG | Intron 06 | Splice Defect | c.816+5G>C | unknown | 74 | Details |
| ENG | Intron 06 | In-frame InDel | c.817_1134delinsTAAA ... | p.Thr273_Ala378del ... | 15 | Details |
| ENG | Intron 06 | Splice Defect | c.817-2A>T | Unknown | 65 | Details |
| ENG | Intron 06 | Splice Defect | c.817-7C>G | premature termination | 73 | Details |
| ENG | Exon 07 | InDel/Frameshift | c.820_826delACTGGAGi ... | p.Thr274fsX338 ... | 8 | Details |
| ENG | Exon 07 | Insertion/Frameshift | c.828_829insA | p.Tyr277fs | 59 | Details |
| ENG | Exon 07 | Nonsense | c.831C>G | p.Tyr277X | 1, 58 | Details |
| ENG | Exon 07 | Insertion/Frameshift | c.834dupC | p.Phe279fs | 67 | Details |
| ENG | Exon 07 | Deletion/Frameshift | c.834_837delCTTC | p.Phe279fs | 67 | Details |
| ENG | Exon 07 | In-frame Deletion | c.835_837delTTC | p.Phe279del | 68 | Details |
| ENG | Exon 07 | Insertion/Frameshift | c.878dupC | p.Asp294fs | 68 | Details |
| ENG | Exon 07 | In-frame Deletion | c.882_920del39 | p.Thr295_Asn307del | 1, 58 | Details |
| ENG | Exon 07 | InDel/Frameshift | c.887_918del32, 919_ ... | p.Glu297fs ... | 47, 58 | Details |
| ENG | Exon 07 | Nonsense | c.889C>T | p.Gln297X | 65 | Details |
| ENG | Exon 07 | Deletion/Frameshift | c.893delG | p.Gly298fsX358 | 35 | Details |
| ENG | Exon 07 | Deletion/Frameshift | c.896del186 | premature termination | 73 | Details |
| ENG | Exon 07 | Insertion/Frameshift | c.904_905insGG | p.Glu302fsX359 | 15 | Details |
| ENG | Exon 07 | Insertion/Frameshift | c.905_906insG | p.Gly302fs | | Details |
| ENG | Exon 07 | In-frame Deletion | c.909_929delCCGGATGC ... | p.Arg304_Ile310del ... | 16, 65, 80 | Details |
| ENG | Exon 07 | Missense | c.917T>C | p.Leu306Pro | 6, 47, 69 | Details |
| ENG | Exon 07 | Missense | c.923C>A | p.Ala308Asp | 69, 73 | Details |
| ENG | Exon 07 | Missense | c.932T>G | p.Val311Gly | 56 | Details |
| ENG | Exon 07 | Insertion/Frameshift | c.953_954insC | p.Pro318fsX15 | 73 | Details |
| ENG | Exon 07 | Insertion/Frameshift | c.967_968insT | p.Val323fsX333 | 3, 50, 66, 78 | Details |
| ENG | Exon 07 | Deletion/Frameshift | c.967_968delGT | p.Val323fs | 67 | Details |
| ENG | Exon 07 | Insertion/Frameshift | c.982_983insGCCT | p.Ser328fs | 73 | Details |
| ENG | Exon 07 | Missense | c.991G>A | p.Gly331Ser | 47, 69, 78 | Details |
| ENG | Intron 07 | Splice Defect | c.991+2T>G | Unknown | 69 | Details |
| ENG | Intron 07 | Splice Defect | c.992-2A>G | unknown | | Details |
| ENG | Intron 07 | Deletion/Frameshift | c.992-25_1120del152 | p.Gly332fs | 35 | Details |
| ENG | Intron 07 | Splice Defect | c.992-1G>A | r.992_1134del | 72, 78 | Details |
| ENG | Exon 08 | Deletion/Frameshift | c.993_1134del | p.G332fs | 3 | Details |
| ENG | Exon 08 | Deletion/Frameshift | c.995delG | p.Gly332fsX358 | 47, 78 | Details |
| ENG | Exon 08 | Nonsense | c.1010C>G | p.Ser337X | 80 | Details |
| ENG | Exon 08 | Insertion/Frameshift | c.1048_1049dupTT | p.Thr349fsX359 | 35 | Details |
| ENG | Exon 08 | Nonsense | c.1050T>A | p.Cys350X | 1, 2, 5, 47 | Details |
| ENG | Exon 08 | Nonsense | c.1078C>T | p.Gln360X | 47 | Details |
| ENG | Exon 08 | | c.1080_1083delGACA | p.Thr361SerfsX7 | 6, 61, 68, 69, 80 | Details |
| ENG | Exon 08 | Deletion/Frameshift | c.1085delA | p.Lys362fs | 68 | Details |
| ENG | Exon 08 | Missense | c.1087T>A | p.Cys363Ser | 69, 78 | Details |
| ENG | Exon 08 | Missense | c.1088G>A | p.Cys363Tyr | 13, 69 | Details |
| ENG | Exon 08 | Deletion/Frameshift | c.1089_1090delTG | p.Ala363fs394X | 8 | Details |
| ENG | Exon 08 | Deletion/Frameshift | c.1097_1119del23 | p.Asp366GlufsX22 | 65 | Details |
| ENG | Exon 08 | Insertion/Frameshift | c.1098_1099insT | p.Ala367CysfsX29 | 65 | Details |
| ENG | Exon 08 | Missense | c.1103T>C | p.Met368Thr | | Details |
| ENG | Exon 08 | Insertion/Frameshift | c.1111_1112insG | p.Val371fsX395 | 2, 5, 8 | Details |
| ENG | Exon 08 | Deletion/Frameshift | c.1111_1133del23 | p.Val371fs | 35, 52 | Details |
| ENG | Exon 08 | Insertion/Frameshift | c.1117_1118insT | p.Lys373fs | 47 | Details |
| ENG | Exon 08 | Deletion/Frameshift | c.1120_1123delAAAG | p.Lys374fs | 59 | Details |
| ENG | Exon 08 | Missense | c.1121_1122AA>GC | p.Lys374Ser | 47, 78 | Details |
| ENG | Exon 08 | Insertion/Frameshift | c.1122_1123insA | p.Glu375fs | 15 | Details |
| ENG | Exon 08 | Nonsense | c.1123G>T | p.Glu375X | 48 | Details |
| ENG | Exon 08 | Deletion/Frameshift | c.1124_1125delAG | p.Leu375fs | 69 | Details |
| ENG | Exon 08 | Splice Defect | c.1134G>A | p.Ala378Ala | 47, 69, 80 | Details |
| ENG | Intron 08 | Splice Defect | c.1134+3_1134+8delAA ... | Unknown ... | 35 | Details |
| ENG | Intron 08 | Splice Defect | c.1134+1G>C | p.Gly332fs | 48, 78 | Details |
| ENG | Intron 08 | In-frame Insertion | c.1134_1135ins220_11 ... | p.Ala378_His379insGl ... | 3, 10, 77, 79 | Details |
| ENG | Intron 08 | Splice Defect | c.1134+1G>A | p.Gly332fs | 3, 49, 80 | Details |
| ENG | Intron 08 | Large Deletion | c.1135-?_1311+? | deletion exon 9a-9b | 69 | Details |
| ENG | Intron 08 | In-frame Deletion | c.1135_1977del | p.His379_Ala658del | 3, 15 | Details |
| ENG | Intron 08 | In-frame Deletion | c.1135-?_1977+?del | deletion exon09-13 | 72 | Details |
| ENG | Exon 09a | Insertion/Frameshift | c.1142_1143insT | p.Lys381fs | 47 | Details |
| ENG | Exon 09a | Unknown | c.1144T>G | p.Cys382Gly | 80 | Details |
| ENG | Exon 09a | Missense | c.1146C>G | p.Cys382Trp | 52, 66, 69 | Details |
| ENG | Exon 09a | In-frame Deletion | c.1166_1168delTCT | p.Phe389Trp | 49 | Details |
| ENG | exon 09a | Nonsense | c.1169G>A | p.W390X | | Details |
| ENG | exon 09a | Nonsense | c.1169G>A | p.W390X | | Details |
| ENG | Exon 09a | Deletion/Frameshift | c.1186delG | p.Ala396fsX420 | 8 | Details |
| ENG | Exon 09a | Insertion/Frameshift | c.1190_1191dupAG | p.Asp398ArgfsX24 | 65, 70 | Details |
| ENG | Exon 09a | Deletion/Frameshift | c.1195delA | p.Arg399fs | 52, 66 | Details |
| ENG | Exon 09a | Deletion/Frameshift | c.1199delG | p.Gly400fsX420 | 15, 35 | Details |
| ENG | Exon 09a | Deletion/Frameshift | c.1205delA | p.Lys402SerfsX19 | | Details |
| ENG | Exon 09a | Deletion/Frameshift | c.1206delG | p.Leu402fs | 6 | Details |
| ENG | Exon 09a | Missense | c.1208T>C | p.Phe403Ser | | Details |
| ENG | Exon 09a | Insertion/Frameshift | c.1213_1214ins11 | p.Leu405fsX424 | 35 | Details |
| ENG | Exon 09a | Missense | c.1220G>A | p.Ser407Asn | 13, 68 | Details |
| ENG | Exon 09a | In-frame Deletion | c.1231_1233delAGC | p.Ser411del | 13 | Details |
| ENG | Exon 09a | Missense | c.1234T>A | p.Cys412Ser | 35 | Details |
| ENG | Exon 09a | Missense | c.1238G>T | p.Gly413Val | 12, 47 | Details |
| ENG | Exon 09a | Nonsense | c.1243C>T | p.Gln415X | 68 | Details |
| ENG | Exon 09a | Deletion/Frameshift | c.1255delA | p.Ser419fs | 47 | Details |
| ENG | Exon 09a | Deletion/Frameshift | c.1268delA | p.Asn423fsX490 | 6, 48, 78 | Details |
| ENG | Exon 09a | Missense | c.1268A>G | p.Asn423Ser | | Details |
| ENG | Intron 09a | Splice Defect | c.1273-1G>A | Unknown | 64 | Details |
| ENG | Intron 09a | Splice Defect | c.1273-2A>G | Unknown | 69 | Details |
| ENG | Intron 09a | Splice Defect | c.1273-1G>C | Unknown | 69 | Details |
| ENG | exon 09b | Missense | c.1274 C>G | p.A452G | | Details |
| ENG | Exon 09b | Nonsense | c.1292C>A | p.Ser431X | 69 | Details |
| ENG | Exon 09b | Nonsense | c.1306C>T | p.Gln436X | 65 | Details |
| ENG | Exon 09b | Missense | c.1309C>T | p.Arg437Trp | 69, 78 | Details |
| ENG | Exon 09b | Splice Defect | c.1310delG | Unknown | 47 | Details |
| ENG | Exon 09b | Splice Defect | c.1311G>A | p.Arg437Arg | 47, 69 | Details |
| ENG | Exon 09b | Splice Defect | c.1311G>C | p.Arg437Arg | 6 | Details |
| ENG | Intron 09b | Splice Defect | c.1311+2T>G | p.Ala425fs | | Details |
| ENG | Intron 09b | Splice Defect | c.1311+1_2insG | unknown | 78 | Details |
| ENG | Intron 09b | Splice Defect | c.1311+47C>G | Unknown | 35 | Details |
| ENG | Intron 09b | Splice Defect | c.1311+2T>A | p.Ala425fs | 8 | Details |
| ENG | Exon 10 | Unknown | c.1312-?_1854+?del | deletion exons 10-13 | | Details |
| ENG | Exon 10 | Insertion/Frameshift | c.1315_1322dupAAGGTG ... | p.His441fs ... | 81 | Details |
| ENG | Exon 10 | Insertion/Frameshift | c.1317_1318insA | p.Val440fs | 47 | Details |
| ENG | Exon 10 | Deletion/Frameshift | c.1334delT | p.Met445Argfs | 50 | Details |
| ENG | Exon 10 | Deletion/Frameshift | c.1342_1343delCT | p.Ser449fsX490 | 15 | Details |
| ENG | Exon 10 | Deletion/Frameshift | c.1346_1347delCT | p.Ser449fsX499 | 15, 35, 47, 60, 66 | Details |
| ENG | Exon 10 | Deletion/Frameshift | c.1347_1350delTTTC | p.Phe450fs | 8, 69 | Details |
| ENG | Exon 10 | Insertion/Frameshift | c.1347_1348insCT | p.Phe450fsX40 | 73 | Details |
| ENG | Exon 10 | Nonsense | c.1350C>T | p.Gln451X | 69 | Details |
| ENG | Exon 10 | Insertion/Frameshift | c.1350_1351insT | p.Phe450fsX500 | | Details |
| ENG | Exon 10 | Insertion/Frameshift | c.1361_1362dupT | p.Tyr455fs | 35 | Details |
| ENG | Exon 10 | Nonsense | c.1365C>A | p.Tyr455X | | Details |
| ENG | Exon 10 | Insertion/Frameshift | c.1392_1393dupC | p.Asn465fsX500 | 35 | Details |
| ENG | Exon 10 | Deletion/Frameshift | c.1410delG | p.Gly470fsX490 | 35 | Details |
| ENG | Exon 10 | Nonsense | c.1414C>T | p.Gln472X | 2, 5, 66 | Details |
| ENG | Exon 10 | InDel/Frameshift | c.1415_1417delAGA, i ... | p.Gln472fsX490 ... | 8, 13, 78 | Details |
| ENG | Exon 10 | Splice Defect | c.1428G>A | Unknown | 35 | Details |
| ENG | Exon 10 | Missense | c.1428G>C | p.Gln476His | 68 | Details |
| ENG | Intron 10 | Splice Defect | c.1428+1G>A | Unknown | | Details |
| ENG | Intron 10 | Splice Defect | c.1428+2T>G | Unknown | 69 | Details |
| ENG | Intron 10 | Splice Defect | c.1429-1G>A | Unknown | 60 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1432_1433delAG | p.Arg478fs | 6, 47, 60 | Details |
| ENG | Exon 11 | Missense | c.1469T>G | p.Leu490X | 35 | Details |
| ENG | Exon 11 | Missense | c.1469T>C | p.Leu490Ser | 69 | Details |
| ENG | Exon 11 | Insertion/Frameshift | c.1470_1471insGGGTG | p.Asp491fsX520 | 78 | Details |
| ENG | Exon 11 | Insertion/Frameshift | c.1470_1471dupA | p.Asp491ArgfsX10 | | Details |
| ENG | Exon 11 | Insertion/Frameshift | c.1470_1471insA | p.Asp491fs | 8, 13, 35, 48, 69, 78 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1472_1475delACAG | p.Asp491AlafsX26 | | Details |
| ENG | Exon 11 | Insertion/Frameshift | c.1476_1477insC | p.Cys493fs | 78 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1478delG | p.Ser492fsX516 | 74 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1479delC | p.His494fsX517 | 78 | Details |
| ENG | Exon 11 | Missense | c.1510G>A | p.Val504Met | 13, 35, 49, 69 | Details |
| ENG | Exon 11 | Nonsense | c.1513G>T | p.Glu505X | 65 | Details |
| ENG | Exon 11 | Missense | c.1522C>T | p.Gln508X | 35 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1526delG | p.Gly509fs | 60 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1550_1551delTG | p.Val517fsX525 | 2, 80 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1553_1554delGC | p.Ser518fs | 1, 58 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1554_1555delCC | p.Leu519fs | 69 | Details |
| ENG | Exon 11 | Insertion/Frameshift | c.1583_1584dupC | p.Arg529fs | 69 | Details |
| ENG | Exon 11 | Missense | c.1586G>A | p.Arg529His | 69, 78 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1605_1627del23 | p.535fs | | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1609delT | p.Tyr537fsX551 | 35 | Details |
| ENG | Exon 11 | Nonsense | c.1611C>A | p.Tyr537X | 47 | Details |
| ENG | Exon 11 | Insertion/Frameshift | c.1623_1624dupA | p.Pro542fsX566 | 35 | Details |
| ENG | Exon 11 | Insertion/Frameshift | c.1627_1628dupCC | p.Lys543fs | 69 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1630delA | p.Thr544fs | 48 | Details |
| ENG | Exon 11 | Missense | c.1640T>C | p.Leu547Pro | 69 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1655delC | p.Ala552fs | 2, 6 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1657delC | p.Leu553fs | 2 | Details |
| ENG | Exon 11 | Insertion/Frameshift | c.1672_1684dup13 | p.Gln562fsX9 | 80 | Details |
| ENG | Exon 11 | Deletion/Frameshift | c.1672_1684delGGGTCT ... | p.Gln558fsX568 ... | 13 | Details |
| ENG | Exon 11 | Nonsense | c.1678C>T | p.Gln560X | 47 | Details |
| ENG | Exon 11 | Nonsense | c.1684C>T | p.Gln562X | 47 | Details |
| ENG | intron 11 | Splice Defect | c.1686+1delG | r.sp1 | | Details |
| ENG | intron 11 | Splice Defect | c.1686+5G>C | r.sp1 | | Details |
| ENG | Intron 11 | Splice Defect | c.1686+2T>C | Unknown | 65 | Details |
| ENG | intron 11 | Splice Defect | c.1686+3A>G | r.sp1 | | Details |
| ENG | Intron 11 | Splice Defect | c.1687-2A>G | Unknown | 68 | Details |
| ENG | Exon 12 | Large Insertion | c.1687-?_1741+?dup | duplication exon 12 | 69 | Details |
| ENG | Exon 12 | Deletion/Frameshift | c.1687delG | p.Glu563LysfsX10 | 69 | Details |
| ENG | Exon 12 | Deletion/Frameshift | c.1689_1699delAGTCCA ... | p.Glu563fsX574 ... | 13 | Details |
| ENG | Exon 12 | Deletion/Frameshift | c.1698delG | p.Arg566fs | 69 | Details |
| ENG | Exon 12 | Deletion/Frameshift | c.1712delG | p.Arg571fs | 60 | Details |
| ENG | Exon 12 | Missense | c.1712G>A | p.Arg571His | | Details |
| ENG | Exon 12 | Nonsense | c.1715T>A | p.Leu572X | 13 | Details |
| ENG | Exon 12 | Deletion/Frameshift | c.1733_1737delACCTG | p.Asp578fs | 69 | Details |
| ENG | Exon 12 | Insertion/Frameshift | c.1741_1742insTCTG | p.Gly581fs | 48 | Details |
| ENG | Exon 13 | Unknown | c.1742-?_1977+?del | deletion exons 13-14 | | Details |
| ENG | Exon 13 | Missense | c.1811C>A | p.Ala604Asp | 69 | Details |
| ENG | Exon 13 | Missense | c.1844C>T | p.Ser615Leu | 61, 69, 78 | Details |