| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71566439_71570715del | CA1139532913 | DYSF | c.2512-1512_3148del c.2566-1512_3202del c.2515-1512_3151del c.2563-1512_3199del c.2608-1512_3244del c.2473-1512_3109del c.2605-1512_3241del c.2470-1512_3106del n.2766-1512_3402del | |
| 2 | g.71566455_71570716del | CA915942535 | DYSF | c.2512-1496_3149del c.2566-1496_3203del c.2515-1496_3152del c.2563-1496_3200del c.2608-1496_3245del c.2473-1496_3110del c.2605-1496_3242del c.2470-1496_3107del n.2766-1496_3403del | ClinVar |
| 2 | g.71566456_71570715del | CA891842855 | DYSF | c.2512-1495_3148del c.2566-1495_3202del c.2515-1495_3151del c.2563-1495_3199del c.2608-1495_3244del c.2473-1495_3109del c.2605-1495_3241del c.2470-1495_3106del n.2766-1495_3402del | ClinVar |
| 2 | g.71570687_71570704del | CA2659549635 | DYSF | c.546_563del (p.Arg183_Arg188del) c.3120_3137del (p.Arg1041_Arg1046del) c.3174_3191del (p.Arg1059_Arg1064del) c.3123_3140del (p.Arg1042_Arg1047del) c.3171_3188del (p.Arg1058_Arg1063del) c.3216_3233del (p.Arg1073_Arg1078del) c.3081_3098del (p.Arg1028_Arg1033del) c.3213_3230del (p.Arg1072_Arg1077del) n.286_303del c.3078_3095del (p.Arg1027_Arg1032del) n.3374_3391del | gnomAD v4 |
| 2 | g.71570704G>A | CA222152 | DYSF | c.563G>A (p.Arg188His) c.3137G>A (p.Arg1046His) c.3191G>A (p.Arg1064His) c.3140G>A (p.Arg1047His) c.3188G>A (p.Arg1063His) c.3233G>A (p.Arg1078His) c.3098G>A (p.Arg1033His) c.3230G>A (p.Arg1077His) n.303G>A c.3095G>A (p.Arg1032His) n.3391G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71570704G>C | CA347217095 | DYSF | c.563G>C (p.Arg188Pro) c.3137G>C (p.Arg1046Pro) c.3191G>C (p.Arg1064Pro) c.3140G>C (p.Arg1047Pro) c.3188G>C (p.Arg1063Pro) c.3233G>C (p.Arg1078Pro) c.3098G>C (p.Arg1033Pro) c.3230G>C (p.Arg1077Pro) n.303G>C c.3095G>C (p.Arg1032Pro) n.3391G>C | |
| 2 | g.71570704G= | CA1260104138 | DYSF | c.563G= (p.Arg188=) c.3137G= (p.Arg1046=) c.3191G= (p.Arg1064=) c.3140G= (p.Arg1047=) c.3188G= (p.Arg1063=) c.3233G= (p.Arg1078=) c.3098G= (p.Arg1033=) c.3230G= (p.Arg1077=) n.303G= c.3095G= (p.Arg1032=) n.3391G= | |
| 2 | g.71570704G>T | CA347217094 | DYSF | c.563G>T (p.Arg188Leu) c.3137G>T (p.Arg1046Leu) c.3191G>T (p.Arg1064Leu) c.3140G>T (p.Arg1047Leu) c.3188G>T (p.Arg1063Leu) c.3233G>T (p.Arg1078Leu) c.3098G>T (p.Arg1033Leu) c.3230G>T (p.Arg1077Leu) n.303G>T c.3095G>T (p.Arg1032Leu) n.3391G>T | |
| 2 | g.71570705C>A | CA426702103 | DYSF | c.564C>A (p.Arg188=) c.3138C>A (p.Arg1046=) c.3192C>A (p.Arg1064=) c.3141C>A (p.Arg1047=) c.3189C>A (p.Arg1063=) c.3234C>A (p.Arg1078=) c.3099C>A (p.Arg1033=) c.3231C>A (p.Arg1077=) n.304C>A c.3096C>A (p.Arg1032=) n.3392C>A | |
| 2 | g.71570705C>G | CA426702101 | DYSF | c.564C>G (p.Arg188=) c.3138C>G (p.Arg1046=) c.3192C>G (p.Arg1064=) c.3141C>G (p.Arg1047=) c.3189C>G (p.Arg1063=) c.3234C>G (p.Arg1078=) c.3099C>G (p.Arg1033=) c.3231C>G (p.Arg1077=) n.304C>G c.3096C>G (p.Arg1032=) n.3392C>G | |
| 2 | g.71570705C>T | CA426702102 | DYSF | c.564C>T (p.Arg188=) c.3138C>T (p.Arg1046=) c.3192C>T (p.Arg1064=) c.3141C>T (p.Arg1047=) c.3189C>T (p.Arg1063=) c.3234C>T (p.Arg1078=) c.3099C>T (p.Arg1033=) c.3231C>T (p.Arg1077=) n.304C>T c.3096C>T (p.Arg1032=) n.3392C>T | |
| 2 | g.71570706A>C | CA426702104 | DYSF | c.565A>C (p.Arg189=) c.3139A>C (p.Arg1047=) c.3193A>C (p.Arg1065=) c.3142A>C (p.Arg1048=) c.3190A>C (p.Arg1064=) c.3235A>C (p.Arg1079=) c.3100A>C (p.Arg1034=) c.3232A>C (p.Arg1078=) n.305A>C c.3097A>C (p.Arg1033=) n.3393A>C | |
| 2 | g.71570706A>G | CA347217096 | DYSF | c.565A>G (p.Arg189Gly) c.3139A>G (p.Arg1047Gly) c.3193A>G (p.Arg1065Gly) c.3142A>G (p.Arg1048Gly) c.3190A>G (p.Arg1064Gly) c.3235A>G (p.Arg1079Gly) c.3100A>G (p.Arg1034Gly) c.3232A>G (p.Arg1078Gly) n.305A>G c.3097A>G (p.Arg1033Gly) n.3393A>G | |
| 2 | g.71570706A>T | CA347217097 | DYSF | c.565A>T (p.Arg189Trp) c.3139A>T (p.Arg1047Trp) c.3193A>T (p.Arg1065Trp) c.3142A>T (p.Arg1048Trp) c.3190A>T (p.Arg1064Trp) c.3235A>T (p.Arg1079Trp) c.3100A>T (p.Arg1034Trp) c.3232A>T (p.Arg1078Trp) n.305A>T c.3097A>T (p.Arg1033Trp) n.3393A>T | |
| 2 | g.71570707G>A | CA347217098 | DYSF | c.566G>A (p.Arg189Lys) c.3140G>A (p.Arg1047Lys) c.3194G>A (p.Arg1065Lys) c.3143G>A (p.Arg1048Lys) c.3191G>A (p.Arg1064Lys) c.3236G>A (p.Arg1079Lys) c.3101G>A (p.Arg1034Lys) c.3233G>A (p.Arg1078Lys) n.306G>A c.3098G>A (p.Arg1033Lys) n.3394G>A | |
| 2 | g.71570707G>C | CA347217099 | DYSF | c.566G>C (p.Arg189Thr) c.3140G>C (p.Arg1047Thr) c.3194G>C (p.Arg1065Thr) c.3143G>C (p.Arg1048Thr) c.3191G>C (p.Arg1064Thr) c.3236G>C (p.Arg1079Thr) c.3101G>C (p.Arg1034Thr) c.3233G>C (p.Arg1078Thr) n.306G>C c.3098G>C (p.Arg1033Thr) n.3394G>C | |
| 2 | g.71570707G>T | CA347217100 | DYSF | c.566G>T (p.Arg189Met) c.3140G>T (p.Arg1047Met) c.3194G>T (p.Arg1065Met) c.3143G>T (p.Arg1048Met) c.3191G>T (p.Arg1064Met) c.3236G>T (p.Arg1079Met) c.3101G>T (p.Arg1034Met) c.3233G>T (p.Arg1078Met) n.306G>T c.3098G>T (p.Arg1033Met) n.3394G>T | |
| 2 | g.71570708G>A | CA426702105 | DYSF | c.567G>A (p.Arg189=) c.3141G>A (p.Arg1047=) c.3195G>A (p.Arg1065=) c.3144G>A (p.Arg1048=) c.3192G>A (p.Arg1064=) c.3237G>A (p.Arg1079=) c.3102G>A (p.Arg1034=) c.3234G>A (p.Arg1078=) n.307G>A c.3099G>A (p.Arg1033=) n.3395G>A | |
| 2 | g.71570708G>C | CA347217101 | DYSF | c.567G>C (p.Arg189Ser) c.3141G>C (p.Arg1047Ser) c.3195G>C (p.Arg1065Ser) c.3144G>C (p.Arg1048Ser) c.3192G>C (p.Arg1064Ser) c.3237G>C (p.Arg1079Ser) c.3102G>C (p.Arg1034Ser) c.3234G>C (p.Arg1078Ser) n.307G>C c.3099G>C (p.Arg1033Ser) n.3395G>C | |
| 2 | g.71570708G>T | CA347217102 | DYSF | c.567G>T (p.Arg189Ser) c.3141G>T (p.Arg1047Ser) c.3195G>T (p.Arg1065Ser) c.3144G>T (p.Arg1048Ser) c.3192G>T (p.Arg1064Ser) c.3237G>T (p.Arg1079Ser) c.3102G>T (p.Arg1034Ser) c.3234G>T (p.Arg1078Ser) n.307G>T c.3099G>T (p.Arg1033Ser) n.3395G>T | |
| 2 | g.71570709A= | CA1260104139 | DYSF | c.568A= (p.Arg190=) c.3142A= (p.Arg1048=) c.3196A= (p.Arg1066=) c.3145A= (p.Arg1049=) c.3193A= (p.Arg1065=) c.3238A= (p.Arg1080=) c.3103A= (p.Arg1035=) c.3235A= (p.Arg1079=) n.308A= c.3100A= (p.Arg1034=) n.3396A= | |
| 2 | g.71570709A>C | CA426702106 | DYSF | c.568A>C (p.Arg190=) c.3142A>C (p.Arg1048=) c.3196A>C (p.Arg1066=) c.3145A>C (p.Arg1049=) c.3193A>C (p.Arg1065=) c.3238A>C (p.Arg1080=) c.3103A>C (p.Arg1035=) c.3235A>C (p.Arg1079=) n.308A>C c.3100A>C (p.Arg1034=) n.3396A>C | |
| 2 | g.71570709A>G | CA347217103 | DYSF | c.568A>G (p.Arg190Gly) c.3142A>G (p.Arg1048Gly) c.3196A>G (p.Arg1066Gly) c.3145A>G (p.Arg1049Gly) c.3193A>G (p.Arg1065Gly) c.3238A>G (p.Arg1080Gly) c.3103A>G (p.Arg1035Gly) c.3235A>G (p.Arg1079Gly) n.308A>G c.3100A>G (p.Arg1034Gly) n.3396A>G | dbSNP gnomAD v2 |
| 2 | g.71570709A>T | CA347217104 | DYSF | c.568A>T (p.Arg190Trp) c.3142A>T (p.Arg1048Trp) c.3196A>T (p.Arg1066Trp) c.3145A>T (p.Arg1049Trp) c.3193A>T (p.Arg1065Trp) c.3238A>T (p.Arg1080Trp) c.3103A>T (p.Arg1035Trp) c.3235A>T (p.Arg1079Trp) n.308A>T c.3100A>T (p.Arg1034Trp) n.3396A>T | |
| 2 | g.71570710G>A | CA347217105 | DYSF | c.569G>A (p.Arg190Lys) c.3143G>A (p.Arg1048Lys) c.3197G>A (p.Arg1066Lys) c.3146G>A (p.Arg1049Lys) c.3194G>A (p.Arg1065Lys) c.3239G>A (p.Arg1080Lys) c.3104G>A (p.Arg1035Lys) c.3236G>A (p.Arg1079Lys) n.309G>A c.3101G>A (p.Arg1034Lys) n.3397G>A | |
| 2 | g.71570710G>C | CA347217106 | DYSF | c.569G>C (p.Arg190Thr) c.3143G>C (p.Arg1048Thr) c.3197G>C (p.Arg1066Thr) c.3146G>C (p.Arg1049Thr) c.3194G>C (p.Arg1065Thr) c.3239G>C (p.Arg1080Thr) c.3104G>C (p.Arg1035Thr) c.3236G>C (p.Arg1079Thr) n.309G>C c.3101G>C (p.Arg1034Thr) n.3397G>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71570710G= | CA1260104140 | DYSF | c.569G= (p.Arg190=) c.3143G= (p.Arg1048=) c.3197G= (p.Arg1066=) c.3146G= (p.Arg1049=) c.3194G= (p.Arg1065=) c.3239G= (p.Arg1080=) c.3104G= (p.Arg1035=) c.3236G= (p.Arg1079=) n.309G= c.3101G= (p.Arg1034=) n.3397G= | |
| 2 | g.71570710G>T | CA347217107 | DYSF | c.569G>T (p.Arg190Met) c.3143G>T (p.Arg1048Met) c.3197G>T (p.Arg1066Met) c.3146G>T (p.Arg1049Met) c.3194G>T (p.Arg1065Met) c.3239G>T (p.Arg1080Met) c.3104G>T (p.Arg1035Met) c.3236G>T (p.Arg1079Met) n.309G>T c.3101G>T (p.Arg1034Met) n.3397G>T | |
| 2 | g.71570712del | CA2586969485 | DYSF | c.571del (p.Asp191IlefsTer8) c.3145del (p.Asp1049IlefsTer8) c.3199del (p.Asp1067IlefsTer8) c.3148del (p.Asp1050IlefsTer8) c.3196del (p.Asp1066IlefsTer8) c.3241del (p.Asp1081IlefsTer8) c.3106del (p.Asp1036IlefsTer8) c.3238del (p.Asp1080IlefsTer8) n.311del c.3103del (p.Asp1035IlefsTer8) n.3399del | |
| 2 | g.71570711G>A | CA426702107 | DYSF | c.570G>A (p.Arg190=) c.3144G>A (p.Arg1048=) c.3198G>A (p.Arg1066=) c.3147G>A (p.Arg1049=) c.3195G>A (p.Arg1065=) c.3240G>A (p.Arg1080=) c.3105G>A (p.Arg1035=) c.3237G>A (p.Arg1079=) n.310G>A c.3102G>A (p.Arg1034=) n.3398G>A | dbSNP |
| 2 | g.71570711G>C | CA347217108 | DYSF | c.570G>C (p.Arg190Ser) c.3144G>C (p.Arg1048Ser) c.3198G>C (p.Arg1066Ser) c.3147G>C (p.Arg1049Ser) c.3195G>C (p.Arg1065Ser) c.3240G>C (p.Arg1080Ser) c.3105G>C (p.Arg1035Ser) c.3237G>C (p.Arg1079Ser) n.310G>C c.3102G>C (p.Arg1034Ser) n.3398G>C | |
| 2 | g.71570711G= | CA1260104141 | DYSF | c.570G= (p.Arg190=) c.3144G= (p.Arg1048=) c.3198G= (p.Arg1066=) c.3147G= (p.Arg1049=) c.3195G= (p.Arg1065=) c.3240G= (p.Arg1080=) c.3105G= (p.Arg1035=) c.3237G= (p.Arg1079=) n.310G= c.3102G= (p.Arg1034=) n.3398G= | |
| 2 | g.71570711G>T | CA347217109 | DYSF | c.570G>T (p.Arg190Ser) c.3144G>T (p.Arg1048Ser) c.3198G>T (p.Arg1066Ser) c.3147G>T (p.Arg1049Ser) c.3195G>T (p.Arg1065Ser) c.3240G>T (p.Arg1080Ser) c.3105G>T (p.Arg1035Ser) c.3237G>T (p.Arg1079Ser) n.310G>T c.3102G>T (p.Arg1034Ser) n.3398G>T | |
| 2 | g.71570711_71570712delinsAA | CA645526704 | DYSF | c.570_571delinsAA (p.Asp191Asn) c.3144_3145delinsAA (p.Asp1049Asn) c.3198_3199delinsAA (p.Asp1067Asn) c.3147_3148delinsAA (p.Asp1050Asn) c.3195_3196delinsAA (p.Asp1066Asn) c.3240_3241delinsAA (p.Asp1081Asn) c.3105_3106delinsAA (p.Asp1036Asn) c.3237_3238delinsAA (p.Asp1080Asn) n.310_311delinsAA c.3102_3103delinsAA (p.Asp1035Asn) n.3398_3399delinsAA | COSMIC COSMIC |
| 2 | g.71570712G>A | CA347217110 | DYSF | c.571G>A (p.Asp191Asn) c.3145G>A (p.Asp1049Asn) c.3199G>A (p.Asp1067Asn) c.3148G>A (p.Asp1050Asn) c.3196G>A (p.Asp1066Asn) c.3241G>A (p.Asp1081Asn) c.3106G>A (p.Asp1036Asn) c.3238G>A (p.Asp1080Asn) n.311G>A c.3103G>A (p.Asp1035Asn) n.3399G>A | |
| 2 | g.71570712G>C | CA347217112 | DYSF | c.571G>C (p.Asp191His) c.3145G>C (p.Asp1049His) c.3199G>C (p.Asp1067His) c.3148G>C (p.Asp1050His) c.3196G>C (p.Asp1066His) c.3241G>C (p.Asp1081His) c.3106G>C (p.Asp1036His) c.3238G>C (p.Asp1080His) n.311G>C c.3103G>C (p.Asp1035His) n.3399G>C | |
| 2 | g.71570712G>T | CA347217111 | DYSF | c.571G>T (p.Asp191Tyr) c.3145G>T (p.Asp1049Tyr) c.3199G>T (p.Asp1067Tyr) c.3148G>T (p.Asp1050Tyr) c.3196G>T (p.Asp1066Tyr) c.3241G>T (p.Asp1081Tyr) c.3106G>T (p.Asp1036Tyr) c.3238G>T (p.Asp1080Tyr) n.311G>T c.3103G>T (p.Asp1035Tyr) n.3399G>T | gnomAD v4 |
| 2 | g.71570713A= | CA1260104143 | DYSF | c.572A= (p.Asp191=) c.3146A= (p.Asp1049=) c.3200A= (p.Asp1067=) c.3149A= (p.Asp1050=) c.3197A= (p.Asp1066=) c.3242A= (p.Asp1081=) c.3107A= (p.Asp1036=) c.3239A= (p.Asp1080=) n.312A= c.3104A= (p.Asp1035=) n.3400A= | |
| 2 | g.71570713A>C | CA347217113 | DYSF | c.572A>C (p.Asp191Ala) c.3146A>C (p.Asp1049Ala) c.3200A>C (p.Asp1067Ala) c.3149A>C (p.Asp1050Ala) c.3197A>C (p.Asp1066Ala) c.3242A>C (p.Asp1081Ala) c.3107A>C (p.Asp1036Ala) c.3239A>C (p.Asp1080Ala) n.312A>C c.3104A>C (p.Asp1035Ala) n.3400A>C | |
| 2 | g.71570713A>G | CA347217114 | DYSF | c.572A>G (p.Asp191Gly) c.3146A>G (p.Asp1049Gly) c.3200A>G (p.Asp1067Gly) c.3149A>G (p.Asp1050Gly) c.3197A>G (p.Asp1066Gly) c.3242A>G (p.Asp1081Gly) c.3107A>G (p.Asp1036Gly) c.3239A>G (p.Asp1080Gly) n.312A>G c.3104A>G (p.Asp1035Gly) n.3400A>G | dbSNP gnomAD v4 |
| 2 | g.71570713A>T | CA347217115 | DYSF | c.572A>T (p.Asp191Val) c.3146A>T (p.Asp1049Val) c.3200A>T (p.Asp1067Val) c.3149A>T (p.Asp1050Val) c.3197A>T (p.Asp1066Val) c.3242A>T (p.Asp1081Val) c.3107A>T (p.Asp1036Val) c.3239A>T (p.Asp1080Val) n.312A>T c.3104A>T (p.Asp1035Val) n.3400A>T | |
| 2 | g.71570713_71570715delinsATC | CA1260104142 | DYSF | c.572_574delinsATC (p.Asp191=) c.3146_3148delinsATC (p.Asp1049=) c.3200_3202delinsATC (p.Asp1067=) c.3149_3151delinsATC (p.Asp1050=) c.3197_3199delinsATC (p.Asp1066=) c.3242_3244delinsATC (p.Asp1081=) c.3107_3109delinsATC (p.Asp1036=) c.3239_3241delinsATC (p.Asp1080=) n.312_314delinsATC c.3104_3106delinsATC (p.Asp1035=) n.3400_3402delinsATC | |
| 2 | g.71570714T>A | CA49746830 | DYSF | c.573T>A (p.Asp191Glu) c.3147T>A (p.Asp1049Glu) c.3201T>A (p.Asp1067Glu) c.3150T>A (p.Asp1050Glu) c.3198T>A (p.Asp1066Glu) c.3243T>A (p.Asp1081Glu) c.3108T>A (p.Asp1036Glu) c.3240T>A (p.Asp1080Glu) n.313T>A c.3105T>A (p.Asp1035Glu) n.3401T>A | dbSNP gnomAD v4 |
| 2 | g.71570714T>C | CA49746831 | DYSF | c.573T>C (p.Asp191=) c.3147T>C (p.Asp1049=) c.3201T>C (p.Asp1067=) c.3150T>C (p.Asp1050=) c.3198T>C (p.Asp1066=) c.3243T>C (p.Asp1081=) c.3108T>C (p.Asp1036=) c.3240T>C (p.Asp1080=) n.313T>C c.3105T>C (p.Asp1035=) n.3401T>C | ClinVar dbSNP |
| 2 | g.71570714T>G | CA347217116 | DYSF | c.573T>G (p.Asp191Glu) c.3147T>G (p.Asp1049Glu) c.3201T>G (p.Asp1067Glu) c.3150T>G (p.Asp1050Glu) c.3198T>G (p.Asp1066Glu) c.3243T>G (p.Asp1081Glu) c.3108T>G (p.Asp1036Glu) c.3240T>G (p.Asp1080Glu) n.313T>G c.3105T>G (p.Asp1035Glu) n.3401T>G | |
| 2 | g.71570714T= | CA1260104144 | DYSF | c.573T= (p.Asp191=) c.3147T= (p.Asp1049=) c.3201T= (p.Asp1067=) c.3150T= (p.Asp1050=) c.3198T= (p.Asp1066=) c.3243T= (p.Asp1081=) c.3108T= (p.Asp1036=) c.3240T= (p.Asp1080=) n.313T= c.3105T= (p.Asp1035=) n.3401T= | |
| 2 | g.71570716_71570717del | CA892700654 | DYSF | c.575_576del (p.Leu192GlnfsTer?) c.3149_3150del (p.Leu1050GlnfsTer?) c.3203_3204del (p.Leu1068GlnfsTer?) c.3152_3153del (p.Leu1051GlnfsTer?) c.3200_3201del (p.Leu1067GlnfsTer?) c.3245_3246del (p.Leu1082GlnfsTer?) c.3110_3111del (p.Leu1037GlnfsTer?) c.3242_3243del (p.Leu1081GlnfsTer?) n.315_316del c.3107_3108del (p.Leu1036GlnfsTer?) n.3403_3404del | ClinVar dbSNP |
| 2 | g.71570715C>A | CA347217117 | DYSF | c.574C>A (p.Leu192Ile) c.3148C>A (p.Leu1050Ile) c.3202C>A (p.Leu1068Ile) c.3151C>A (p.Leu1051Ile) c.3199C>A (p.Leu1067Ile) c.3244C>A (p.Leu1082Ile) c.3109C>A (p.Leu1037Ile) c.3241C>A (p.Leu1081Ile) n.314C>A c.3106C>A (p.Leu1036Ile) n.3402C>A | COSMIC COSMIC |
| 2 | g.71570715C= | CA1260104145 | DYSF | c.574C= (p.Leu192=) c.3148C= (p.Leu1050=) c.3202C= (p.Leu1068=) c.3151C= (p.Leu1051=) c.3199C= (p.Leu1067=) c.3244C= (p.Leu1082=) c.3109C= (p.Leu1037=) c.3241C= (p.Leu1081=) n.314C= c.3106C= (p.Leu1036=) n.3402C= | |
| 2 | g.71570715C>G | CA1706460 | DYSF | c.574C>G (p.Leu192Val) c.3148C>G (p.Leu1050Val) c.3202C>G (p.Leu1068Val) c.3151C>G (p.Leu1051Val) c.3199C>G (p.Leu1067Val) c.3244C>G (p.Leu1082Val) c.3109C>G (p.Leu1037Val) c.3241C>G (p.Leu1081Val) n.314C>G c.3106C>G (p.Leu1036Val) n.3402C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |