Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23950039_23950065delCA628979193LAMA3c.4695_4721del (p.Leu1566_Val1574del)
c.9522_9548del (p.Leu3175_Val3183del)
c.6117_6143del (p.Leu2040_Val2048del)
c.9354_9380del (p.Leu3119_Val3127del)
c.4527_4553del (p.Leu1510_Val1518del)
c.43_69del
n.4100_4126del
c.9549_9575del (p.Leu3184_Val3192del)
c.9540_9566del (p.Leu3181_Val3189del)
c.9531_9557del (p.Leu3178_Val3186del)
c.9417_9443del (p.Leu3140_Val3148del)
c.9252_9278del (p.Leu3085_Val3093del)
c.7401_7427del (p.Leu2468_Val2476del)
c.5091_5117del (p.Leu1698_Val1706del)
n.9790_9816del
 dbSNP gnomAD v2
18g.23950063T>ACA503522803LAMA3c.4719T>A (p.Leu1573=)
c.9546T>A (p.Leu3182=)
c.6141T>A (p.Leu2047=)
c.9378T>A (p.Leu3126=)
c.4551T>A (p.Leu1517=)
c.67T>A
n.4124T>A
c.9573T>A (p.Leu3191=)
c.9564T>A (p.Leu3188=)
c.9555T>A (p.Leu3185=)
c.9441T>A (p.Leu3147=)
c.9276T>A (p.Leu3092=)
c.7425T>A (p.Leu2475=)
c.5115T>A (p.Leu1705=)
n.9814T>A
18g.23950063T>CCA503522805LAMA3c.4719T>C (p.Leu1573=)
c.9546T>C (p.Leu3182=)
c.6141T>C (p.Leu2047=)
c.9378T>C (p.Leu3126=)
c.4551T>C (p.Leu1517=)
c.67T>C
n.4124T>C
c.9573T>C (p.Leu3191=)
c.9564T>C (p.Leu3188=)
c.9555T>C (p.Leu3185=)
c.9441T>C (p.Leu3147=)
c.9276T>C (p.Leu3092=)
c.7425T>C (p.Leu2475=)
c.5115T>C (p.Leu1705=)
n.9814T>C
 ClinVar dbSNP
18g.23950063T>GCA503522804LAMA3c.4719T>G (p.Leu1573=)
c.9546T>G (p.Leu3182=)
c.6141T>G (p.Leu2047=)
c.9378T>G (p.Leu3126=)
c.4551T>G (p.Leu1517=)
c.67T>G
n.4124T>G
c.9573T>G (p.Leu3191=)
c.9564T>G (p.Leu3188=)
c.9555T>G (p.Leu3185=)
c.9441T>G (p.Leu3147=)
c.9276T>G (p.Leu3092=)
c.7425T>G (p.Leu2475=)
c.5115T>G (p.Leu1705=)
n.9814T>G
18g.23950064G>ACA402051945LAMA3c.4720G>A (p.Val1574Ile)
c.9547G>A (p.Val3183Ile)
c.6142G>A (p.Val2048Ile)
c.9379G>A (p.Val3127Ile)
c.4552G>A (p.Val1518Ile)
c.68G>A
n.4125G>A
c.9574G>A (p.Val3192Ile)
c.9565G>A (p.Val3189Ile)
c.9556G>A (p.Val3186Ile)
c.9442G>A (p.Val3148Ile)
c.9277G>A (p.Val3093Ile)
c.7426G>A (p.Val2476Ile)
c.5116G>A (p.Val1706Ile)
n.9815G>A
18g.23950064G>CCA402051944LAMA3c.4720G>C (p.Val1574Leu)
c.9547G>C (p.Val3183Leu)
c.6142G>C (p.Val2048Leu)
c.9379G>C (p.Val3127Leu)
c.4552G>C (p.Val1518Leu)
c.68G>C
n.4125G>C
c.9574G>C (p.Val3192Leu)
c.9565G>C (p.Val3189Leu)
c.9556G>C (p.Val3186Leu)
c.9442G>C (p.Val3148Leu)
c.9277G>C (p.Val3093Leu)
c.7426G>C (p.Val2476Leu)
c.5116G>C (p.Val1706Leu)
n.9815G>C
18g.23950064G>TCA402051946LAMA3c.4720G>T (p.Val1574Phe)
c.9547G>T (p.Val3183Phe)
c.6142G>T (p.Val2048Phe)
c.9379G>T (p.Val3127Phe)
c.4552G>T (p.Val1518Phe)
c.68G>T
n.4125G>T
c.9574G>T (p.Val3192Phe)
c.9565G>T (p.Val3189Phe)
c.9556G>T (p.Val3186Phe)
c.9442G>T (p.Val3148Phe)
c.9277G>T (p.Val3093Phe)
c.7426G>T (p.Val2476Phe)
c.5116G>T (p.Val1706Phe)
n.9815G>T
18g.23950065T>ACA402051947LAMA3c.4721T>A (p.Val1574Asp)
c.9548T>A (p.Val3183Asp)
c.6143T>A (p.Val2048Asp)
c.9380T>A (p.Val3127Asp)
c.4553T>A (p.Val1518Asp)
c.69T>A
n.4126T>A
c.9575T>A (p.Val3192Asp)
c.9566T>A (p.Val3189Asp)
c.9557T>A (p.Val3186Asp)
c.9443T>A (p.Val3148Asp)
c.9278T>A (p.Val3093Asp)
c.7427T>A (p.Val2476Asp)
c.5117T>A (p.Val1706Asp)
n.9816T>A
18g.23950065T>CCA402051948LAMA3c.4721T>C (p.Val1574Ala)
c.9548T>C (p.Val3183Ala)
c.6143T>C (p.Val2048Ala)
c.9380T>C (p.Val3127Ala)
c.4553T>C (p.Val1518Ala)
c.69T>C
n.4126T>C
c.9575T>C (p.Val3192Ala)
c.9566T>C (p.Val3189Ala)
c.9557T>C (p.Val3186Ala)
c.9443T>C (p.Val3148Ala)
c.9278T>C (p.Val3093Ala)
c.7427T>C (p.Val2476Ala)
c.5117T>C (p.Val1706Ala)
n.9816T>C
18g.23950065T>GCA402051949LAMA3c.4721T>G (p.Val1574Gly)
c.9548T>G (p.Val3183Gly)
c.6143T>G (p.Val2048Gly)
c.9380T>G (p.Val3127Gly)
c.4553T>G (p.Val1518Gly)
c.69T>G
n.4126T>G
c.9575T>G (p.Val3192Gly)
c.9566T>G (p.Val3189Gly)
c.9557T>G (p.Val3186Gly)
c.9443T>G (p.Val3148Gly)
c.9278T>G (p.Val3093Gly)
c.7427T>G (p.Val2476Gly)
c.5117T>G (p.Val1706Gly)
n.9816T>G
18g.23950066T>ACA503522806LAMA3c.4722T>A (p.Val1574=)
c.9549T>A (p.Val3183=)
c.6144T>A (p.Val2048=)
c.9381T>A (p.Val3127=)
c.4554T>A (p.Val1518=)
c.70T>A
n.4127T>A
c.9576T>A (p.Val3192=)
c.9567T>A (p.Val3189=)
c.9558T>A (p.Val3186=)
c.9444T>A (p.Val3148=)
c.9279T>A (p.Val3093=)
c.7428T>A (p.Val2476=)
c.5118T>A (p.Val1706=)
n.9817T>A
18g.23950066T>CCA503522807LAMA3c.4722T>C (p.Val1574=)
c.9549T>C (p.Val3183=)
c.6144T>C (p.Val2048=)
c.9381T>C (p.Val3127=)
c.4554T>C (p.Val1518=)
c.70T>C
n.4127T>C
c.9576T>C (p.Val3192=)
c.9567T>C (p.Val3189=)
c.9558T>C (p.Val3186=)
c.9444T>C (p.Val3148=)
c.9279T>C (p.Val3093=)
c.7428T>C (p.Val2476=)
c.5118T>C (p.Val1706=)
n.9817T>C
18g.23950066T>GCA503522808LAMA3c.4722T>G (p.Val1574=)
c.9549T>G (p.Val3183=)
c.6144T>G (p.Val2048=)
c.9381T>G (p.Val3127=)
c.4554T>G (p.Val1518=)
c.70T>G
n.4127T>G
c.9576T>G (p.Val3192=)
c.9567T>G (p.Val3189=)
c.9558T>G (p.Val3186=)
c.9444T>G (p.Val3148=)
c.9279T>G (p.Val3093=)
c.7428T>G (p.Val2476=)
c.5118T>G (p.Val1706=)
n.9817T>G
18g.23950067T>ACA402051950LAMA3c.4723T>A (p.Phe1575Ile)
c.9550T>A (p.Phe3184Ile)
c.6145T>A (p.Phe2049Ile)
c.9382T>A (p.Phe3128Ile)
c.4555T>A (p.Phe1519Ile)
c.71T>A
n.4128T>A
c.9577T>A (p.Phe3193Ile)
c.9568T>A (p.Phe3190Ile)
c.9559T>A (p.Phe3187Ile)
c.9445T>A (p.Phe3149Ile)
c.9280T>A (p.Phe3094Ile)
c.7429T>A (p.Phe2477Ile)
c.5119T>A (p.Phe1707Ile)
n.9818T>A
18g.23950067T>CCA402051951LAMA3c.4723T>C (p.Phe1575Leu)
c.9550T>C (p.Phe3184Leu)
c.6145T>C (p.Phe2049Leu)
c.9382T>C (p.Phe3128Leu)
c.4555T>C (p.Phe1519Leu)
c.71T>C
n.4128T>C
c.9577T>C (p.Phe3193Leu)
c.9568T>C (p.Phe3190Leu)
c.9559T>C (p.Phe3187Leu)
c.9445T>C (p.Phe3149Leu)
c.9280T>C (p.Phe3094Leu)
c.7429T>C (p.Phe2477Leu)
c.5119T>C (p.Phe1707Leu)
n.9818T>C
18g.23950067T>GCA402051952LAMA3c.4723T>G (p.Phe1575Val)
c.9550T>G (p.Phe3184Val)
c.6145T>G (p.Phe2049Val)
c.9382T>G (p.Phe3128Val)
c.4555T>G (p.Phe1519Val)
c.71T>G
n.4128T>G
c.9577T>G (p.Phe3193Val)
c.9568T>G (p.Phe3190Val)
c.9559T>G (p.Phe3187Val)
c.9445T>G (p.Phe3149Val)
c.9280T>G (p.Phe3094Val)
c.7429T>G (p.Phe2477Val)
c.5119T>G (p.Phe1707Val)
n.9818T>G
18g.23950068T>ACA402051953LAMA3c.4724T>A (p.Phe1575Tyr)
c.9551T>A (p.Phe3184Tyr)
c.6146T>A (p.Phe2049Tyr)
c.9383T>A (p.Phe3128Tyr)
c.4556T>A (p.Phe1519Tyr)
c.72T>A
n.4129T>A
c.9578T>A (p.Phe3193Tyr)
c.9569T>A (p.Phe3190Tyr)
c.9560T>A (p.Phe3187Tyr)
c.9446T>A (p.Phe3149Tyr)
c.9281T>A (p.Phe3094Tyr)
c.7430T>A (p.Phe2477Tyr)
c.5120T>A (p.Phe1707Tyr)
n.9819T>A
18g.23950068T>CCA402051954LAMA3c.4724T>C (p.Phe1575Ser)
c.9551T>C (p.Phe3184Ser)
c.6146T>C (p.Phe2049Ser)
c.9383T>C (p.Phe3128Ser)
c.4556T>C (p.Phe1519Ser)
c.72T>C
n.4129T>C
c.9578T>C (p.Phe3193Ser)
c.9569T>C (p.Phe3190Ser)
c.9560T>C (p.Phe3187Ser)
c.9446T>C (p.Phe3149Ser)
c.9281T>C (p.Phe3094Ser)
c.7430T>C (p.Phe2477Ser)
c.5120T>C (p.Phe1707Ser)
n.9819T>C
18g.23950068T>GCA402051955LAMA3c.4724T>G (p.Phe1575Cys)
c.9551T>G (p.Phe3184Cys)
c.6146T>G (p.Phe2049Cys)
c.9383T>G (p.Phe3128Cys)
c.4556T>G (p.Phe1519Cys)
c.72T>G
n.4129T>G
c.9578T>G (p.Phe3193Cys)
c.9569T>G (p.Phe3190Cys)
c.9560T>G (p.Phe3187Cys)
c.9446T>G (p.Phe3149Cys)
c.9281T>G (p.Phe3094Cys)
c.7430T>G (p.Phe2477Cys)
c.5120T>G (p.Phe1707Cys)
n.9819T>G
18g.23950069C>ACA402051956LAMA3c.4725C>A (p.Phe1575Leu)
c.9552C>A (p.Phe3184Leu)
c.6147C>A (p.Phe2049Leu)
c.9384C>A (p.Phe3128Leu)
c.4557C>A (p.Phe1519Leu)
c.73C>A
n.4130C>A
c.9579C>A (p.Phe3193Leu)
c.9570C>A (p.Phe3190Leu)
c.9561C>A (p.Phe3187Leu)
c.9447C>A (p.Phe3149Leu)
c.9282C>A (p.Phe3094Leu)
c.7431C>A (p.Phe2477Leu)
c.5121C>A (p.Phe1707Leu)
n.9820C>A
18g.23950069C>GCA402051957LAMA3c.4725C>G (p.Phe1575Leu)
c.9552C>G (p.Phe3184Leu)
c.6147C>G (p.Phe2049Leu)
c.9384C>G (p.Phe3128Leu)
c.4557C>G (p.Phe1519Leu)
c.73C>G
n.4130C>G
c.9579C>G (p.Phe3193Leu)
c.9570C>G (p.Phe3190Leu)
c.9561C>G (p.Phe3187Leu)
c.9447C>G (p.Phe3149Leu)
c.9282C>G (p.Phe3094Leu)
c.7431C>G (p.Phe2477Leu)
c.5121C>G (p.Phe1707Leu)
n.9820C>G
18g.23950069C>TCA503522812LAMA3c.4725C>T (p.Phe1575=)
c.9552C>T (p.Phe3184=)
c.6147C>T (p.Phe2049=)
c.9384C>T (p.Phe3128=)
c.4557C>T (p.Phe1519=)
c.73C>T
n.4130C>T
c.9579C>T (p.Phe3193=)
c.9570C>T (p.Phe3190=)
c.9561C>T (p.Phe3187=)
c.9447C>T (p.Phe3149=)
c.9282C>T (p.Phe3094=)
c.7431C>T (p.Phe2477=)
c.5121C>T (p.Phe1707=)
n.9820C>T
 ClinVar dbSNP
18g.23950070A=CA2290344077LAMA3c.4726A= (p.Ser1576=)
c.9553A= (p.Ser3185=)
c.6148A= (p.Ser2050=)
c.9385A= (p.Ser3129=)
c.4558A= (p.Ser1520=)
c.74A=
n.4131A=
c.9580A= (p.Ser3194=)
c.9571A= (p.Ser3191=)
c.9562A= (p.Ser3188=)
c.9448A= (p.Ser3150=)
c.9283A= (p.Ser3095=)
c.7432A= (p.Ser2478=)
c.5122A= (p.Ser1708=)
n.9821A=
18g.23950070A>CCA402051960LAMA3c.4726A>C (p.Ser1576Arg)
c.9553A>C (p.Ser3185Arg)
c.6148A>C (p.Ser2050Arg)
c.9385A>C (p.Ser3129Arg)
c.4558A>C (p.Ser1520Arg)
c.74A>C
n.4131A>C
c.9580A>C (p.Ser3194Arg)
c.9571A>C (p.Ser3191Arg)
c.9562A>C (p.Ser3188Arg)
c.9448A>C (p.Ser3150Arg)
c.9283A>C (p.Ser3095Arg)
c.7432A>C (p.Ser2478Arg)
c.5122A>C (p.Ser1708Arg)
n.9821A>C
18g.23950070A>GCA402051959LAMA3c.4726A>G (p.Ser1576Gly)
c.9553A>G (p.Ser3185Gly)
c.6148A>G (p.Ser2050Gly)
c.9385A>G (p.Ser3129Gly)
c.4558A>G (p.Ser1520Gly)
c.74A>G
n.4131A>G
c.9580A>G (p.Ser3194Gly)
c.9571A>G (p.Ser3191Gly)
c.9562A>G (p.Ser3188Gly)
c.9448A>G (p.Ser3150Gly)
c.9283A>G (p.Ser3095Gly)
c.7432A>G (p.Ser2478Gly)
c.5122A>G (p.Ser1708Gly)
n.9821A>G
 gnomAD v4
18g.23950070A>TCA402051958LAMA3c.4726A>T (p.Ser1576Cys)
c.9553A>T (p.Ser3185Cys)
c.6148A>T (p.Ser2050Cys)
c.9385A>T (p.Ser3129Cys)
c.4558A>T (p.Ser1520Cys)
c.74A>T
n.4131A>T
c.9580A>T (p.Ser3194Cys)
c.9571A>T (p.Ser3191Cys)
c.9562A>T (p.Ser3188Cys)
c.9448A>T (p.Ser3150Cys)
c.9283A>T (p.Ser3095Cys)
c.7432A>T (p.Ser2478Cys)
c.5122A>T (p.Ser1708Cys)
n.9821A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23950071G>ACA402051961LAMA3c.4727G>A (p.Ser1576Asn)
c.9554G>A (p.Ser3185Asn)
c.6149G>A (p.Ser2050Asn)
c.9386G>A (p.Ser3129Asn)
c.4559G>A (p.Ser1520Asn)
c.75G>A
n.4132G>A
c.9581G>A (p.Ser3194Asn)
c.9572G>A (p.Ser3191Asn)
c.9563G>A (p.Ser3188Asn)
c.9449G>A (p.Ser3150Asn)
c.9284G>A (p.Ser3095Asn)
c.7433G>A (p.Ser2478Asn)
c.5123G>A (p.Ser1708Asn)
n.9822G>A
18g.23950071G>CCA402051962LAMA3c.4727G>C (p.Ser1576Thr)
c.9554G>C (p.Ser3185Thr)
c.6149G>C (p.Ser2050Thr)
c.9386G>C (p.Ser3129Thr)
c.4559G>C (p.Ser1520Thr)
c.75G>C
n.4132G>C
c.9581G>C (p.Ser3194Thr)
c.9572G>C (p.Ser3191Thr)
c.9563G>C (p.Ser3188Thr)
c.9449G>C (p.Ser3150Thr)
c.9284G>C (p.Ser3095Thr)
c.7433G>C (p.Ser2478Thr)
c.5123G>C (p.Ser1708Thr)
n.9822G>C
18g.23950071G=CA2290344080LAMA3c.4727G= (p.Ser1576=)
c.9554G= (p.Ser3185=)
c.6149G= (p.Ser2050=)
c.9386G= (p.Ser3129=)
c.4559G= (p.Ser1520=)
c.75G=
n.4132G=
c.9581G= (p.Ser3194=)
c.9572G= (p.Ser3191=)
c.9563G= (p.Ser3188=)
c.9449G= (p.Ser3150=)
c.9284G= (p.Ser3095=)
c.7433G= (p.Ser2478=)
c.5123G= (p.Ser1708=)
n.9822G=
18g.23950071G>TCA402051963LAMA3c.4727G>T (p.Ser1576Ile)
c.9554G>T (p.Ser3185Ile)
c.6149G>T (p.Ser2050Ile)
c.9386G>T (p.Ser3129Ile)
c.4559G>T (p.Ser1520Ile)
c.75G>T
n.4132G>T
c.9581G>T (p.Ser3194Ile)
c.9572G>T (p.Ser3191Ile)
c.9563G>T (p.Ser3188Ile)
c.9449G>T (p.Ser3150Ile)
c.9284G>T (p.Ser3095Ile)
c.7433G>T (p.Ser2478Ile)
c.5123G>T (p.Ser1708Ile)
n.9822G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23950072C>ACA402051964LAMA3c.4728C>A (p.Ser1576Arg)
c.9555C>A (p.Ser3185Arg)
c.6150C>A (p.Ser2050Arg)
c.9387C>A (p.Ser3129Arg)
c.4560C>A (p.Ser1520Arg)
c.76C>A
n.4133C>A
c.9582C>A (p.Ser3194Arg)
c.9573C>A (p.Ser3191Arg)
c.9564C>A (p.Ser3188Arg)
c.9450C>A (p.Ser3150Arg)
c.9285C>A (p.Ser3095Arg)
c.7434C>A (p.Ser2478Arg)
c.5124C>A (p.Ser1708Arg)
n.9823C>A
18g.23950072C=CA2290344083LAMA3c.4728C= (p.Ser1576=)
c.9555C= (p.Ser3185=)
c.6150C= (p.Ser2050=)
c.9387C= (p.Ser3129=)
c.4560C= (p.Ser1520=)
c.76C=
n.4133C=
c.9582C= (p.Ser3194=)
c.9573C= (p.Ser3191=)
c.9564C= (p.Ser3188=)
c.9450C= (p.Ser3150=)
c.9285C= (p.Ser3095=)
c.7434C= (p.Ser2478=)
c.5124C= (p.Ser1708=)
n.9823C=
18g.23950072C>GCA402051965LAMA3c.4728C>G (p.Ser1576Arg)
c.9555C>G (p.Ser3185Arg)
c.6150C>G (p.Ser2050Arg)
c.9387C>G (p.Ser3129Arg)
c.4560C>G (p.Ser1520Arg)
c.76C>G
n.4133C>G
c.9582C>G (p.Ser3194Arg)
c.9573C>G (p.Ser3191Arg)
c.9564C>G (p.Ser3188Arg)
c.9450C>G (p.Ser3150Arg)
c.9285C>G (p.Ser3095Arg)
c.7434C>G (p.Ser2478Arg)
c.5124C>G (p.Ser1708Arg)
n.9823C>G
18g.23950072C>TCA503522813LAMA3c.4728C>T (p.Ser1576=)
c.9555C>T (p.Ser3185=)
c.6150C>T (p.Ser2050=)
c.9387C>T (p.Ser3129=)
c.4560C>T (p.Ser1520=)
c.76C>T
n.4133C>T
c.9582C>T (p.Ser3194=)
c.9573C>T (p.Ser3191=)
c.9564C>T (p.Ser3188=)
c.9450C>T (p.Ser3150=)
c.9285C>T (p.Ser3095=)
c.7434C>T (p.Ser2478=)
c.5124C>T (p.Ser1708=)
n.9823C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23950073A>CCA402051966LAMA3c.4729A>C (p.Ile1577Leu)
c.9556A>C (p.Ile3186Leu)
c.6151A>C (p.Ile2051Leu)
c.9388A>C (p.Ile3130Leu)
c.4561A>C (p.Ile1521Leu)
c.77A>C
n.4134A>C
c.9583A>C (p.Ile3195Leu)
c.9574A>C (p.Ile3192Leu)
c.9565A>C (p.Ile3189Leu)
c.9451A>C (p.Ile3151Leu)
c.9286A>C (p.Ile3096Leu)
c.7435A>C (p.Ile2479Leu)
c.5125A>C (p.Ile1709Leu)
n.9824A>C
18g.23950073A>GCA402051967LAMA3c.4729A>G (p.Ile1577Val)
c.9556A>G (p.Ile3186Val)
c.6151A>G (p.Ile2051Val)
c.9388A>G (p.Ile3130Val)
c.4561A>G (p.Ile1521Val)
c.77A>G
n.4134A>G
c.9583A>G (p.Ile3195Val)
c.9574A>G (p.Ile3192Val)
c.9565A>G (p.Ile3189Val)
c.9451A>G (p.Ile3151Val)
c.9286A>G (p.Ile3096Val)
c.7435A>G (p.Ile2479Val)
c.5125A>G (p.Ile1709Val)
n.9824A>G
18g.23950073A>TCA402051968LAMA3c.4729A>T (p.Ile1577Phe)
c.9556A>T (p.Ile3186Phe)
c.6151A>T (p.Ile2051Phe)
c.9388A>T (p.Ile3130Phe)
c.4561A>T (p.Ile1521Phe)
c.77A>T
n.4134A>T
c.9583A>T (p.Ile3195Phe)
c.9574A>T (p.Ile3192Phe)
c.9565A>T (p.Ile3189Phe)
c.9451A>T (p.Ile3151Phe)
c.9286A>T (p.Ile3096Phe)
c.7435A>T (p.Ile2479Phe)
c.5125A>T (p.Ile1709Phe)
n.9824A>T
18g.23950074T>ACA402051969LAMA3c.4730T>A (p.Ile1577Asn)
c.9557T>A (p.Ile3186Asn)
c.6152T>A (p.Ile2051Asn)
c.9389T>A (p.Ile3130Asn)
c.4562T>A (p.Ile1521Asn)
c.78T>A
n.4135T>A
c.9584T>A (p.Ile3195Asn)
c.9575T>A (p.Ile3192Asn)
c.9566T>A (p.Ile3189Asn)
c.9452T>A (p.Ile3151Asn)
c.9287T>A (p.Ile3096Asn)
c.7436T>A (p.Ile2479Asn)
c.5126T>A (p.Ile1709Asn)
n.9825T>A
 gnomAD v4
18g.23950074T>CCA402051970LAMA3c.4730T>C (p.Ile1577Thr)
c.9557T>C (p.Ile3186Thr)
c.6152T>C (p.Ile2051Thr)
c.9389T>C (p.Ile3130Thr)
c.4562T>C (p.Ile1521Thr)
c.78T>C
n.4135T>C
c.9584T>C (p.Ile3195Thr)
c.9575T>C (p.Ile3192Thr)
c.9566T>C (p.Ile3189Thr)
c.9452T>C (p.Ile3151Thr)
c.9287T>C (p.Ile3096Thr)
c.7436T>C (p.Ile2479Thr)
c.5126T>C (p.Ile1709Thr)
n.9825T>C
 dbSNP
18g.23950074T>GCA402051971LAMA3c.4730T>G (p.Ile1577Ser)
c.9557T>G (p.Ile3186Ser)
c.6152T>G (p.Ile2051Ser)
c.9389T>G (p.Ile3130Ser)
c.4562T>G (p.Ile1521Ser)
c.78T>G
n.4135T>G
c.9584T>G (p.Ile3195Ser)
c.9575T>G (p.Ile3192Ser)
c.9566T>G (p.Ile3189Ser)
c.9452T>G (p.Ile3151Ser)
c.9287T>G (p.Ile3096Ser)
c.7436T>G (p.Ile2479Ser)
c.5126T>G (p.Ile1709Ser)
n.9825T>G
18g.23950074T=CA2290344088LAMA3c.4730T= (p.Ile1577=)
c.9557T= (p.Ile3186=)
c.6152T= (p.Ile2051=)
c.9389T= (p.Ile3130=)
c.4562T= (p.Ile1521=)
c.78T=
n.4135T=
c.9584T= (p.Ile3195=)
c.9575T= (p.Ile3192=)
c.9566T= (p.Ile3189=)
c.9452T= (p.Ile3151=)
c.9287T= (p.Ile3096=)
c.7436T= (p.Ile2479=)
c.5126T= (p.Ile1709=)
n.9825T=
18g.23950075C>ACA503522814LAMA3c.4731C>A (p.Ile1577=)
c.9558C>A (p.Ile3186=)
c.6153C>A (p.Ile2051=)
c.9390C>A (p.Ile3130=)
c.4563C>A (p.Ile1521=)
c.79C>A
n.4136C>A
c.9585C>A (p.Ile3195=)
c.9576C>A (p.Ile3192=)
c.9567C>A (p.Ile3189=)
c.9453C>A (p.Ile3151=)
c.9288C>A (p.Ile3096=)
c.7437C>A (p.Ile2479=)
c.5127C>A (p.Ile1709=)
n.9826C>A
18g.23950075C>GCA402051972LAMA3c.4731C>G (p.Ile1577Met)
c.9558C>G (p.Ile3186Met)
c.6153C>G (p.Ile2051Met)
c.9390C>G (p.Ile3130Met)
c.4563C>G (p.Ile1521Met)
c.79C>G
n.4136C>G
c.9585C>G (p.Ile3195Met)
c.9576C>G (p.Ile3192Met)
c.9567C>G (p.Ile3189Met)
c.9453C>G (p.Ile3151Met)
c.9288C>G (p.Ile3096Met)
c.7437C>G (p.Ile2479Met)
c.5127C>G (p.Ile1709Met)
n.9826C>G
18g.23950075C>TCA503522815LAMA3c.4731C>T (p.Ile1577=)
c.9558C>T (p.Ile3186=)
c.6153C>T (p.Ile2051=)
c.9390C>T (p.Ile3130=)
c.4563C>T (p.Ile1521=)
c.79C>T
n.4136C>T
c.9585C>T (p.Ile3195=)
c.9576C>T (p.Ile3192=)
c.9567C>T (p.Ile3189=)
c.9453C>T (p.Ile3151=)
c.9288C>T (p.Ile3096=)
c.7437C>T (p.Ile2479=)
c.5127C>T (p.Ile1709=)
n.9826C>T
 gnomAD v4
18g.23950076C>ACA402051974LAMA3c.4732C>A (p.Arg1578Ser)
c.9559C>A (p.Arg3187Ser)
c.6154C>A (p.Arg2052Ser)
c.9391C>A (p.Arg3131Ser)
c.4564C>A (p.Arg1522Ser)
c.80C>A
n.4137C>A
c.9586C>A (p.Arg3196Ser)
c.9577C>A (p.Arg3193Ser)
c.9568C>A (p.Arg3190Ser)
c.9454C>A (p.Arg3152Ser)
c.9289C>A (p.Arg3097Ser)
c.7438C>A (p.Arg2480Ser)
c.5128C>A (p.Arg1710Ser)
n.9827C>A
18g.23950076C=CA2290344093LAMA3c.4732C= (p.Arg1578=)
c.9559C= (p.Arg3187=)
c.6154C= (p.Arg2052=)
c.9391C= (p.Arg3131=)
c.4564C= (p.Arg1522=)
c.80C=
n.4137C=
c.9586C= (p.Arg3196=)
c.9577C= (p.Arg3193=)
c.9568C= (p.Arg3190=)
c.9454C= (p.Arg3152=)
c.9289C= (p.Arg3097=)
c.7438C= (p.Arg2480=)
c.5128C= (p.Arg1710=)
n.9827C=
18g.23950076C>GCA402051973LAMA3c.4732C>G (p.Arg1578Gly)
c.9559C>G (p.Arg3187Gly)
c.6154C>G (p.Arg2052Gly)
c.9391C>G (p.Arg3131Gly)
c.4564C>G (p.Arg1522Gly)
c.80C>G
n.4137C>G
c.9586C>G (p.Arg3196Gly)
c.9577C>G (p.Arg3193Gly)
c.9568C>G (p.Arg3190Gly)
c.9454C>G (p.Arg3152Gly)
c.9289C>G (p.Arg3097Gly)
c.7438C>G (p.Arg2480Gly)
c.5128C>G (p.Arg1710Gly)
n.9827C>G
18g.23950076C>TCA8917227LAMA3c.4732C>T (p.Arg1578Cys)
c.9559C>T (p.Arg3187Cys)
c.6154C>T (p.Arg2052Cys)
c.9391C>T (p.Arg3131Cys)
c.4564C>T (p.Arg1522Cys)
c.80C>T
n.4137C>T
c.9586C>T (p.Arg3196Cys)
c.9577C>T (p.Arg3193Cys)
c.9568C>T (p.Arg3190Cys)
c.9454C>T (p.Arg3152Cys)
c.9289C>T (p.Arg3097Cys)
c.7438C>T (p.Arg2480Cys)
c.5128C>T (p.Arg1710Cys)
n.9827C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23950077G>ACA8917228LAMA3c.4733G>A (p.Arg1578His)
c.9560G>A (p.Arg3187His)
c.6155G>A (p.Arg2052His)
c.9392G>A (p.Arg3131His)
c.4565G>A (p.Arg1522His)
c.81G>A
n.4138G>A
c.9587G>A (p.Arg3196His)
c.9578G>A (p.Arg3193His)
c.9569G>A (p.Arg3190His)
c.9455G>A (p.Arg3152His)
c.9290G>A (p.Arg3097His)
c.7439G>A (p.Arg2480His)
c.5129G>A (p.Arg1710His)
n.9828G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23950077G>CCA402051975LAMA3c.4733G>C (p.Arg1578Pro)
c.9560G>C (p.Arg3187Pro)
c.6155G>C (p.Arg2052Pro)
c.9392G>C (p.Arg3131Pro)
c.4565G>C (p.Arg1522Pro)
c.81G>C
n.4138G>C
c.9587G>C (p.Arg3196Pro)
c.9578G>C (p.Arg3193Pro)
c.9569G>C (p.Arg3190Pro)
c.9455G>C (p.Arg3152Pro)
c.9290G>C (p.Arg3097Pro)
c.7439G>C (p.Arg2480Pro)
c.5129G>C (p.Arg1710Pro)
n.9828G>C

Number of alleles fetched