Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26477214C>ACA425359880OTOFc.2481G>T (p.Leu827=)
c.240G>T (p.Leu80=)
c.411G>T (p.Leu137=)
c.2526G>T (p.Leu842=)
2g.26477214C>GCA425359882OTOFc.2481G>C (p.Leu827=)
c.240G>C (p.Leu80=)
c.411G>C (p.Leu137=)
c.2526G>C (p.Leu842=)
2g.26477214C>TCA425359883OTOFc.2481G>A (p.Leu827=)
c.240G>A (p.Leu80=)
c.411G>A (p.Leu137=)
c.2526G>A (p.Leu842=)
 gnomAD v4
2g.26477218_26477223delCA2658237851OTOFc.2476_2481del (p.Arg826_Leu827del)
c.235_240del (p.Arg79_Leu80del)
c.406_411del (p.Arg136_Leu137del)
c.2521_2526del (p.Arg841_Leu842del)
 gnomAD v4
2g.26477215A>CCA346121734OTOFc.2480T>G (p.Leu827Arg)
c.239T>G (p.Leu80Arg)
c.410T>G (p.Leu137Arg)
c.2525T>G (p.Leu842Arg)
2g.26477215A>GCA346121735OTOFc.2480T>C (p.Leu827Pro)
c.239T>C (p.Leu80Pro)
c.410T>C (p.Leu137Pro)
c.2525T>C (p.Leu842Pro)
2g.26477215A>TCA346121737OTOFc.2480T>A (p.Leu827Gln)
c.239T>A (p.Leu80Gln)
c.410T>A (p.Leu137Gln)
c.2525T>A (p.Leu842Gln)
2g.26477216G>ACA425359887OTOFc.2479C>T (p.Leu827=)
c.238C>T (p.Leu80=)
c.409C>T (p.Leu137=)
c.2524C>T (p.Leu842=)
2g.26477216G>CCA346121743OTOFc.2479C>G (p.Leu827Val)
c.238C>G (p.Leu80Val)
c.409C>G (p.Leu137Val)
c.2524C>G (p.Leu842Val)
2g.26477216G>TCA346121750OTOFc.2479C>A (p.Leu827Met)
c.238C>A (p.Leu80Met)
c.409C>A (p.Leu137Met)
c.2524C>A (p.Leu842Met)
2g.26477217C>ACA346121766OTOFc.2478G>T (p.Arg826Ser)
c.237G>T (p.Arg79Ser)
c.408G>T (p.Arg136Ser)
c.2523G>T (p.Arg841Ser)
2g.26477217C>GCA346121760OTOFc.2478G>C (p.Arg826Ser)
c.237G>C (p.Arg79Ser)
c.408G>C (p.Arg136Ser)
c.2523G>C (p.Arg841Ser)
 gnomAD v4
2g.26477217C>TCA425359888OTOFc.2478G>A (p.Arg826=)
c.237G>A (p.Arg79=)
c.408G>A (p.Arg136=)
c.2523G>A (p.Arg841=)
2g.26477218C>ACA346121775OTOFc.2477G>T (p.Arg826Met)
c.236G>T (p.Arg79Met)
c.407G>T (p.Arg136Met)
c.2522G>T (p.Arg841Met)
 gnomAD v4
2g.26477218C>GCA346121781OTOFc.2477G>C (p.Arg826Thr)
c.236G>C (p.Arg79Thr)
c.407G>C (p.Arg136Thr)
c.2522G>C (p.Arg841Thr)
2g.26477218C>TCA346121777OTOFc.2477G>A (p.Arg826Lys)
c.236G>A (p.Arg79Lys)
c.407G>A (p.Arg136Lys)
c.2522G>A (p.Arg841Lys)
2g.26477219T>ACA346121791OTOFc.2476A>T (p.Arg826Trp)
c.235A>T (p.Arg79Trp)
c.406A>T (p.Arg136Trp)
c.2521A>T (p.Arg841Trp)
2g.26477219T>CCA346121799OTOFc.2476A>G (p.Arg826Gly)
c.235A>G (p.Arg79Gly)
c.406A>G (p.Arg136Gly)
c.2521A>G (p.Arg841Gly)
2g.26477219T>GCA425359890OTOFc.2476A>C (p.Arg826=)
c.235A>C (p.Arg79=)
c.406A>C (p.Arg136=)
c.2521A>C (p.Arg841=)
 gnomAD v4
2g.26477220C>ACA425359894OTOFc.2475G>T (p.Leu825=)
c.234G>T (p.Leu78=)
c.405G>T (p.Leu135=)
c.2520G>T (p.Leu840=)
2g.26477220C>GCA425359895OTOFc.2475G>C (p.Leu825=)
c.234G>C (p.Leu78=)
c.405G>C (p.Leu135=)
c.2520G>C (p.Leu840=)
2g.26477220C>TCA425359897OTOFc.2475G>A (p.Leu825=)
c.234G>A (p.Leu78=)
c.405G>A (p.Leu135=)
c.2520G>A (p.Leu840=)
2g.26477221A>CCA346121808OTOFc.2474T>G (p.Leu825Arg)
c.233T>G (p.Leu78Arg)
c.404T>G (p.Leu135Arg)
c.2519T>G (p.Leu840Arg)
2g.26477221A>GCA346121814OTOFc.2474T>C (p.Leu825Pro)
c.233T>C (p.Leu78Pro)
c.404T>C (p.Leu135Pro)
c.2519T>C (p.Leu840Pro)
2g.26477221A>TCA346121819OTOFc.2474T>A (p.Leu825Gln)
c.233T>A (p.Leu78Gln)
c.404T>A (p.Leu135Gln)
c.2519T>A (p.Leu840Gln)
2g.26477222G>ACA425359898OTOFc.2473C>T (p.Leu825=)
c.232C>T (p.Leu78=)
c.403C>T (p.Leu135=)
c.2518C>T (p.Leu840=)
2g.26477222G>CCA346121820OTOFc.2473C>G (p.Leu825Val)
c.232C>G (p.Leu78Val)
c.403C>G (p.Leu135Val)
c.2518C>G (p.Leu840Val)
2g.26477222G>TCA346121821OTOFc.2473C>A (p.Leu825Met)
c.232C>A (p.Leu78Met)
c.403C>A (p.Leu135Met)
c.2518C>A (p.Leu840Met)
2g.26477223C>ACA346121822OTOFc.2472G>T (p.Lys824Asn)
c.231G>T (p.Lys77Asn)
c.402G>T (p.Lys134Asn)
c.2517G>T (p.Lys839Asn)
2g.26477223C>GCA346121824OTOFc.2472G>C (p.Lys824Asn)
c.231G>C (p.Lys77Asn)
c.402G>C (p.Lys134Asn)
c.2517G>C (p.Lys839Asn)
2g.26477223C>TCA425359899OTOFc.2472G>A (p.Lys824=)
c.231G>A (p.Lys77=)
c.402G>A (p.Lys134=)
c.2517G>A (p.Lys839=)
2g.26477224T>ACA346121848OTOFc.2471A>T (p.Lys824Met)
c.230A>T (p.Lys77Met)
c.401A>T (p.Lys134Met)
c.2516A>T (p.Lys839Met)
 COSMIC COSMIC COSMIC
2g.26477224T>CCA346121851OTOFc.2471A>G (p.Lys824Arg)
c.230A>G (p.Lys77Arg)
c.401A>G (p.Lys134Arg)
c.2516A>G (p.Lys839Arg)
 COSMIC COSMIC COSMIC
2g.26477224T>GCA346121855OTOFc.2471A>C (p.Lys824Thr)
c.230A>C (p.Lys77Thr)
c.401A>C (p.Lys134Thr)
c.2516A>C (p.Lys839Thr)
2g.26477225T>ACA346121888OTOFc.2470A>T (p.Lys824Ter)
c.229A>T (p.Lys77Ter)
c.400A>T (p.Lys134Ter)
c.2515A>T (p.Lys839Ter)
2g.26477225T>CCA346121865OTOFc.2470A>G (p.Lys824Glu)
c.229A>G (p.Lys77Glu)
c.400A>G (p.Lys134Glu)
c.2515A>G (p.Lys839Glu)
 ClinVar dbSNP
2g.26477225T>GCA346121871OTOFc.2470A>C (p.Lys824Gln)
c.229A>C (p.Lys77Gln)
c.400A>C (p.Lys134Gln)
c.2515A>C (p.Lys839Gln)
2g.26477228_26477239delCA2658237852OTOFc.2459_2470del (p.Thr820_Asp823del)
c.218_229del (p.Thr73_Asp76del)
c.389_400del (p.Thr130_Asp133del)
c.2504_2515del (p.Thr835_Asp838del)
 gnomAD v4
2g.26477226G>ACA425359904OTOFc.2469C>T (p.Asp823=)
c.228C>T (p.Asp76=)
c.399C>T (p.Asp133=)
c.2514C>T (p.Asp838=)
 ClinVar
2g.26477226G>CCA346121890OTOFc.2469C>G (p.Asp823Glu)
c.228C>G (p.Asp76Glu)
c.399C>G (p.Asp133Glu)
c.2514C>G (p.Asp838Glu)
2g.26477226G=CA1239829699OTOFc.2469C= (p.Asp823=)
c.228C= (p.Asp76=)
c.399C= (p.Asp133=)
c.2514C= (p.Asp838=)
2g.26477226G>TCA346121892OTOFc.2469C>A (p.Asp823Glu)
c.228C>A (p.Asp76Glu)
c.399C>A (p.Asp133Glu)
c.2514C>A (p.Asp838Glu)
 dbSNP
2g.26477227T>ACA346121908OTOFc.2468A>T (p.Asp823Val)
c.227A>T (p.Asp76Val)
c.398A>T (p.Asp133Val)
c.2513A>T (p.Asp838Val)
2g.26477227T>CCA346121912OTOFc.2468A>G (p.Asp823Gly)
c.227A>G (p.Asp76Gly)
c.398A>G (p.Asp133Gly)
c.2513A>G (p.Asp838Gly)
2g.26477227T>GCA346121944OTOFc.2468A>C (p.Asp823Ala)
c.227A>C (p.Asp76Ala)
c.398A>C (p.Asp133Ala)
c.2513A>C (p.Asp838Ala)
2g.26477228C>ACA346121958OTOFc.2467G>T (p.Asp823Tyr)
c.226G>T (p.Asp76Tyr)
c.397G>T (p.Asp133Tyr)
c.2512G>T (p.Asp838Tyr)
2g.26477228C>GCA346121978OTOFc.2467G>C (p.Asp823His)
c.226G>C (p.Asp76His)
c.397G>C (p.Asp133His)
c.2512G>C (p.Asp838His)
2g.26477228C>TCA346121979OTOFc.2467G>A (p.Asp823Asn)
c.226G>A (p.Asp76Asn)
c.397G>A (p.Asp133Asn)
c.2512G>A (p.Asp838Asn)
2g.26477229C>ACA425359907OTOFc.2466G>T (p.Arg822=)
c.225G>T (p.Arg75=)
c.396G>T (p.Arg132=)
c.2511G>T (p.Arg837=)
2g.26477229C=CA1239829701OTOFc.2466G= (p.Arg822=)
c.225G= (p.Arg75=)
c.396G= (p.Arg132=)
c.2511G= (p.Arg837=)
2g.26477229C>GCA425359908OTOFc.2466G>C (p.Arg822=)
c.225G>C (p.Arg75=)
c.396G>C (p.Arg132=)
c.2511G>C (p.Arg837=)
2g.26477229C>TCA425359909OTOFc.2466G>A (p.Arg822=)
c.225G>A (p.Arg75=)
c.396G>A (p.Arg132=)
c.2511G>A (p.Arg837=)
 dbSNP gnomAD v2 gnomAD v4
2g.26477230C>ACA346121980OTOFc.2465G>T (p.Arg822Leu)
c.224G>T (p.Arg75Leu)
c.395G>T (p.Arg132Leu)
c.2510G>T (p.Arg837Leu)
 dbSNP gnomAD v4
2g.26477230C=CA1239829708OTOFc.2465G= (p.Arg822=)
c.224G= (p.Arg75=)
c.395G= (p.Arg132=)
c.2510G= (p.Arg837=)
2g.26477230C>GCA346121987OTOFc.2465G>C (p.Arg822Pro)
c.224G>C (p.Arg75Pro)
c.395G>C (p.Arg132Pro)
c.2510G>C (p.Arg837Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.26477230C>TCA182466OTOFc.2465G>A (p.Arg822Gln)
c.224G>A (p.Arg75Gln)
c.395G>A (p.Arg132Gln)
c.2510G>A (p.Arg837Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477231G>ACA142809OTOFc.2464C>T (p.Arg822Trp)
c.223C>T (p.Arg75Trp)
c.394C>T (p.Arg132Trp)
c.2509C>T (p.Arg837Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477231G>CCA346122012OTOFc.2464C>G (p.Arg822Gly)
c.223C>G (p.Arg75Gly)
c.394C>G (p.Arg132Gly)
c.2509C>G (p.Arg837Gly)
2g.26477231G=CA1239829714OTOFc.2464C= (p.Arg822=)
c.223C= (p.Arg75=)
c.394C= (p.Arg132=)
c.2509C= (p.Arg837=)
2g.26477231G>TCA425359914OTOFc.2464C>A (p.Arg822=)
c.223C>A (p.Arg75=)
c.394C>A (p.Arg132=)
c.2509C>A (p.Arg837=)
 dbSNP gnomAD v3 gnomAD v4
2g.26477232C>ACA1563892OTOFc.2463G>T (p.Val821=)
c.222G>T (p.Val74=)
c.393G>T (p.Val131=)
c.2508G>T (p.Val836=)
 dbSNP ExAC gnomAD v4
2g.26477232C=CA1239829720OTOFc.2463G= (p.Val821=)
c.222G= (p.Val74=)
c.393G= (p.Val131=)
c.2508G= (p.Val836=)
2g.26477232C>GCA425359915OTOFc.2463G>C (p.Val821=)
c.222G>C (p.Val74=)
c.393G>C (p.Val131=)
c.2508G>C (p.Val836=)
2g.26477232C>TCA425359916OTOFc.2463G>A (p.Val821=)
c.222G>A (p.Val74=)
c.393G>A (p.Val131=)
c.2508G>A (p.Val836=)
 dbSNP gnomAD v3 gnomAD v4
2g.26477233A=CA1239829723OTOFc.2462T= (p.Val821=)
c.221T= (p.Val74=)
c.392T= (p.Val131=)
c.2507T= (p.Val836=)
2g.26477233A>CCA346122020OTOFc.2462T>G (p.Val821Gly)
c.221T>G (p.Val74Gly)
c.392T>G (p.Val131Gly)
c.2507T>G (p.Val836Gly)
2g.26477233A>GCA346122024OTOFc.2462T>C (p.Val821Ala)
c.221T>C (p.Val74Ala)
c.392T>C (p.Val131Ala)
c.2507T>C (p.Val836Ala)
2g.26477233A>TCA346122027OTOFc.2462T>A (p.Val821Glu)
c.221T>A (p.Val74Glu)
c.392T>A (p.Val131Glu)
c.2507T>A (p.Val836Glu)
 dbSNP
2g.26477234C>ACA346122036OTOFc.2461G>T (p.Val821Leu)
c.220G>T (p.Val74Leu)
c.391G>T (p.Val131Leu)
c.2506G>T (p.Val836Leu)
2g.26477234C>GCA346122046OTOFc.2461G>C (p.Val821Leu)
c.220G>C (p.Val74Leu)
c.391G>C (p.Val131Leu)
c.2506G>C (p.Val836Leu)
2g.26477234C>TCA346122053OTOFc.2461G>A (p.Val821Met)
c.220G>A (p.Val74Met)
c.391G>A (p.Val131Met)
c.2506G>A (p.Val836Met)
2g.26477235C>ACA425359918OTOFc.2460G>T (p.Thr820=)
c.219G>T (p.Thr73=)
c.390G>T (p.Thr130=)
c.2505G>T (p.Thr835=)
 gnomAD v4
2g.26477235C=CA1239829725OTOFc.2460G= (p.Thr820=)
c.219G= (p.Thr73=)
c.390G= (p.Thr130=)
c.2505G= (p.Thr835=)
2g.26477235C>GCA425359920OTOFc.2460G>C (p.Thr820=)
c.219G>C (p.Thr73=)
c.390G>C (p.Thr130=)
c.2505G>C (p.Thr835=)
 ClinVar
2g.26477235C>TCA44398329OTOFc.2460G>A (p.Thr820=)
c.219G>A (p.Thr73=)
c.390G>A (p.Thr130=)
c.2505G>A (p.Thr835=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477236G>ACA1563893OTOFc.2459C>T (p.Thr820Met)
c.218C>T (p.Thr73Met)
c.389C>T (p.Thr130Met)
c.2504C>T (p.Thr835Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477236G>CCA346122059OTOFc.2459C>G (p.Thr820Arg)
c.218C>G (p.Thr73Arg)
c.389C>G (p.Thr130Arg)
c.2504C>G (p.Thr835Arg)
 dbSNP gnomAD v4
2g.26477236G=CA1239829727OTOFc.2459C= (p.Thr820=)
c.218C= (p.Thr73=)
c.389C= (p.Thr130=)
c.2504C= (p.Thr835=)
2g.26477236G>TCA346122072OTOFc.2459C>A (p.Thr820Lys)
c.218C>A (p.Thr73Lys)
c.389C>A (p.Thr130Lys)
c.2504C>A (p.Thr835Lys)
2g.26477237T>ACA346122073OTOFc.2458A>T (p.Thr820Ser)
c.217A>T (p.Thr73Ser)
c.388A>T (p.Thr130Ser)
c.2503A>T (p.Thr835Ser)
2g.26477237T>CCA346122074OTOFc.2458A>G (p.Thr820Ala)
c.217A>G (p.Thr73Ala)
c.388A>G (p.Thr130Ala)
c.2503A>G (p.Thr835Ala)
2g.26477237T>GCA346122090OTOFc.2458A>C (p.Thr820Pro)
c.217A>C (p.Thr73Pro)
c.388A>C (p.Thr130Pro)
c.2503A>C (p.Thr835Pro)
2g.26477238G>ACA1563894OTOFc.2457C>T (p.His819=)
c.216C>T (p.His72=)
c.387C>T (p.His129=)
c.2502C>T (p.His834=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477238G>CCA346122094OTOFc.2457C>G (p.His819Gln)
c.216C>G (p.His72Gln)
c.387C>G (p.His129Gln)
c.2502C>G (p.His834Gln)
 dbSNP
2g.26477238G=CA1239829731OTOFc.2457C= (p.His819=)
c.216C= (p.His72=)
c.387C= (p.His129=)
c.2502C= (p.His834=)
2g.26477238G>TCA346122098OTOFc.2457C>A (p.His819Gln)
c.216C>A (p.His72Gln)
c.387C>A (p.His129Gln)
c.2502C>A (p.His834Gln)
 gnomAD v4
2g.26477239T>ACA346122113OTOFc.2456A>T (p.His819Leu)
c.215A>T (p.His72Leu)
c.386A>T (p.His129Leu)
c.2501A>T (p.His834Leu)
2g.26477239T>CCA346122132OTOFc.2456A>G (p.His819Arg)
c.215A>G (p.His72Arg)
c.386A>G (p.His129Arg)
c.2501A>G (p.His834Arg)
 gnomAD v4
2g.26477239T>GCA346122141OTOFc.2456A>C (p.His819Pro)
c.215A>C (p.His72Pro)
c.386A>C (p.His129Pro)
c.2501A>C (p.His834Pro)
2g.26477240G>ACA346122147OTOFc.2455C>T (p.His819Tyr)
c.214C>T (p.His72Tyr)
c.385C>T (p.His129Tyr)
c.2500C>T (p.His834Tyr)
 gnomAD v4
2g.26477240G>CCA346122154OTOFc.2455C>G (p.His819Asp)
c.214C>G (p.His72Asp)
c.385C>G (p.His129Asp)
c.2500C>G (p.His834Asp)
2g.26477240G>TCA346122155OTOFc.2455C>A (p.His819Asn)
c.214C>A (p.His72Asn)
c.385C>A (p.His129Asn)
c.2500C>A (p.His834Asn)
2g.26477241C>ACA425359927OTOFc.2454G>T (p.Arg818=)
c.213G>T (p.Arg71=)
c.384G>T (p.Arg128=)
c.2499G>T (p.Arg833=)
2g.26477241C>GCA425359926OTOFc.2454G>C (p.Arg818=)
c.213G>C (p.Arg71=)
c.384G>C (p.Arg128=)
c.2499G>C (p.Arg833=)
2g.26477241C>TCA425359925OTOFc.2454G>A (p.Arg818=)
c.213G>A (p.Arg71=)
c.384G>A (p.Arg128=)
c.2499G>A (p.Arg833=)
 gnomAD v4
2g.26477242C>ACA346122157OTOFc.2453G>T (p.Arg818Leu)
c.212G>T (p.Arg71Leu)
c.383G>T (p.Arg128Leu)
c.2498G>T (p.Arg833Leu)
 COSMIC COSMIC COSMIC
2g.26477242C=CA1239829735OTOFc.2453G= (p.Arg818=)
c.212G= (p.Arg71=)
c.383G= (p.Arg128=)
c.2498G= (p.Arg833=)
2g.26477242C>GCA346122161OTOFc.2453G>C (p.Arg818Pro)
c.212G>C (p.Arg71Pro)
c.383G>C (p.Arg128Pro)
c.2498G>C (p.Arg833Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.26477242C>TCA1563895OTOFc.2453G>A (p.Arg818Gln)
c.212G>A (p.Arg71Gln)
c.383G>A (p.Arg128Gln)
c.2498G>A (p.Arg833Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477243G>ACA142805OTOFc.2452C>T (p.Arg818Trp)
c.211C>T (p.Arg71Trp)
c.382C>T (p.Arg128Trp)
c.2497C>T (p.Arg833Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477243G>CCA346122176OTOFc.2452C>G (p.Arg818Gly)
c.211C>G (p.Arg71Gly)
c.382C>G (p.Arg128Gly)
c.2497C>G (p.Arg833Gly)
 dbSNP
2g.26477243G=CA1239829741OTOFc.2452C= (p.Arg818=)
c.211C= (p.Arg71=)
c.382C= (p.Arg128=)
c.2497C= (p.Arg833=)
2g.26477243G>TCA425359928OTOFc.2452C>A (p.Arg818=)
c.211C>A (p.Arg71=)
c.382C>A (p.Arg128=)
c.2497C>A (p.Arg833=)
 dbSNP
2g.26477244C>ACA346122184OTOFc.2451G>T (p.Lys817Asn)
c.210G>T (p.Lys70Asn)
c.381G>T (p.Lys127Asn)
c.2496G>T (p.Lys832Asn)
2g.26477244C>GCA346122194OTOFc.2451G>C (p.Lys817Asn)
c.210G>C (p.Lys70Asn)
c.381G>C (p.Lys127Asn)
c.2496G>C (p.Lys832Asn)
2g.26477244C>TCA425359931OTOFc.2451G>A (p.Lys817=)
c.210G>A (p.Lys70=)
c.381G>A (p.Lys127=)
c.2496G>A (p.Lys832=)
2g.26477245T>ACA346122200OTOFc.2450A>T (p.Lys817Met)
c.209A>T (p.Lys70Met)
c.380A>T (p.Lys127Met)
c.2495A>T (p.Lys832Met)
2g.26477245T>CCA346122201OTOFc.2450A>G (p.Lys817Arg)
c.209A>G (p.Lys70Arg)
c.380A>G (p.Lys127Arg)
c.2495A>G (p.Lys832Arg)
 gnomAD v4
2g.26477245T>GCA346122199OTOFc.2450A>C (p.Lys817Thr)
c.209A>C (p.Lys70Thr)
c.380A>C (p.Lys127Thr)
c.2495A>C (p.Lys832Thr)
2g.26477246T>ACA346122217OTOFc.2449A>T (p.Lys817Ter)
c.208A>T (p.Lys70Ter)
c.379A>T (p.Lys127Ter)
c.2494A>T (p.Lys832Ter)
 gnomAD v4
2g.26477246T>CCA346122208OTOFc.2449A>G (p.Lys817Glu)
c.208A>G (p.Lys70Glu)
c.379A>G (p.Lys127Glu)
c.2494A>G (p.Lys832Glu)
2g.26477246T>GCA346122243OTOFc.2449A>C (p.Lys817Gln)
c.208A>C (p.Lys70Gln)
c.379A>C (p.Lys127Gln)
c.2494A>C (p.Lys832Gln)
2g.26477247C>ACA425359932OTOFc.2448G>T (p.Val816=)
c.207G>T (p.Val69=)
c.378G>T (p.Val126=)
c.2493G>T (p.Val831=)
2g.26477247C=CA1239829743OTOFc.2448G= (p.Val816=)
c.207G= (p.Val69=)
c.378G= (p.Val126=)
c.2493G= (p.Val831=)
2g.26477247C>GCA425359934OTOFc.2448G>C (p.Val816=)
c.207G>C (p.Val69=)
c.378G>C (p.Val126=)
c.2493G>C (p.Val831=)
2g.26477247C>TCA425359933OTOFc.2448G>A (p.Val816=)
c.207G>A (p.Val69=)
c.378G>A (p.Val126=)
c.2493G>A (p.Val831=)
 dbSNP gnomAD v3 gnomAD v4
2g.26477248A=CA1239829745OTOFc.2447T= (p.Val816=)
c.206T= (p.Val69=)
c.377T= (p.Val126=)
c.2492T= (p.Val831=)
2g.26477248A>CCA346122249OTOFc.2447T>G (p.Val816Gly)
c.206T>G (p.Val69Gly)
c.377T>G (p.Val126Gly)
c.2492T>G (p.Val831Gly)
2g.26477248A>GCA346122251OTOFc.2447T>C (p.Val816Ala)
c.206T>C (p.Val69Ala)
c.377T>C (p.Val126Ala)
c.2492T>C (p.Val831Ala)
2g.26477248A>TCA346122261OTOFc.2447T>A (p.Val816Glu)
c.206T>A (p.Val69Glu)
c.377T>A (p.Val126Glu)
c.2492T>A (p.Val831Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.26477249C>ACA346122264OTOFc.2446G>T (p.Val816Leu)
c.205G>T (p.Val69Leu)
c.376G>T (p.Val126Leu)
c.2491G>T (p.Val831Leu)
2g.26477249C=CA1239829747OTOFc.2446G= (p.Val816=)
c.205G= (p.Val69=)
c.376G= (p.Val126=)
c.2491G= (p.Val831=)
2g.26477249C>GCA346122266OTOFc.2446G>C (p.Val816Leu)
c.205G>C (p.Val69Leu)
c.376G>C (p.Val126Leu)
c.2491G>C (p.Val831Leu)
2g.26477249C>TCA1563896OTOFc.2446G>A (p.Val816Met)
c.205G>A (p.Val69Met)
c.376G>A (p.Val126Met)
c.2491G>A (p.Val831Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477250C>ACA346122275OTOFc.2445G>T (p.Gln815His)
c.204G>T (p.Gln68His)
c.375G>T (p.Gln125His)
c.2490G>T (p.Gln830His)
2g.26477250C=CA1239829750OTOFc.2445G= (p.Gln815=)
c.204G= (p.Gln68=)
c.375G= (p.Gln125=)
c.2490G= (p.Gln830=)
2g.26477250C>GCA346122278OTOFc.2445G>C (p.Gln815His)
c.204G>C (p.Gln68His)
c.375G>C (p.Gln125His)
c.2490G>C (p.Gln830His)
2g.26477250C>TCA1563897OTOFc.2445G>A (p.Gln815=)
c.204G>A (p.Gln68=)
c.375G>A (p.Gln125=)
c.2490G>A (p.Gln830=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477250_26477251delCA2576699500OTOFc.2444_2445del (p.Gln815ArgfsTer?)
c.203_204del (p.Gln68ArgfsTer?)
c.374_375del (p.Gln125ArgfsTer?)
c.2489_2490del (p.Gln830ArgfsTer?)
 gnomAD v4
2g.26477251T>ACA346122282OTOFc.2444A>T (p.Gln815Leu)
c.203A>T (p.Gln68Leu)
c.374A>T (p.Gln125Leu)
c.2489A>T (p.Gln830Leu)
2g.26477251T>CCA346122283OTOFc.2444A>G (p.Gln815Arg)
c.203A>G (p.Gln68Arg)
c.374A>G (p.Gln125Arg)
c.2489A>G (p.Gln830Arg)
 gnomAD v4
2g.26477251T>GCA346122286OTOFc.2444A>C (p.Gln815Pro)
c.203A>C (p.Gln68Pro)
c.374A>C (p.Gln125Pro)
c.2489A>C (p.Gln830Pro)
2g.26477251_26477252delinsTGCA1239829753OTOFc.2443_2444delinsCA (p.Gln815=)
c.202_203delinsCA (p.Gln68=)
c.373_374delinsCA (p.Gln125=)
c.2488_2489delinsCA (p.Gln830=)
2g.26477252G>ACA346122291OTOFc.2443C>T (p.Gln815Ter)
c.202C>T (p.Gln68Ter)
c.373C>T (p.Gln125Ter)
c.2488C>T (p.Gln830Ter)
2g.26477252G>CCA346122288OTOFc.2443C>G (p.Gln815Glu)
c.202C>G (p.Gln68Glu)
c.373C>G (p.Gln125Glu)
c.2488C>G (p.Gln830Glu)
2g.26477252G>TCA346122289OTOFc.2443C>A (p.Gln815Lys)
c.202C>A (p.Gln68Lys)
c.373C>A (p.Gln125Lys)
c.2488C>A (p.Gln830Lys)
 gnomAD v4
2g.26477254delCA913189627OTOFc.2443del (p.Gln815ArgfsTer2)
c.202del (p.Gln68ArgfsTer2)
c.373del (p.Gln125ArgfsTer2)
c.2488del (p.Gln830ArgfsTer2)
 ClinVar dbSNP
2g.26477253G>ACA425359940OTOFc.2442C>T (p.Ala814=)
c.201C>T (p.Ala67=)
c.372C>T (p.Ala124=)
c.2487C>T (p.Ala829=)
 dbSNP gnomAD v2 gnomAD v4
2g.26477253G>CCA425359941OTOFc.2442C>G (p.Ala814=)
c.201C>G (p.Ala67=)
c.372C>G (p.Ala124=)
c.2487C>G (p.Ala829=)
2g.26477253G=CA1239829761OTOFc.2442C= (p.Ala814=)
c.201C= (p.Ala67=)
c.372C= (p.Ala124=)
c.2487C= (p.Ala829=)
2g.26477253G>TCA425359942OTOFc.2442C>A (p.Ala814=)
c.201C>A (p.Ala67=)
c.372C>A (p.Ala124=)
c.2487C>A (p.Ala829=)
2g.26477257_26477271delCA645517907OTOFc.2428_2442del (p.Arg810_Ala814del)
c.187_201del (p.Arg63_Ala67del)
c.358_372del (p.Arg120_Ala124del)
c.2473_2487del (p.Arg825_Ala829del)
 COSMIC COSMIC COSMIC
2g.26477254G>ACA346122299OTOFc.2441C>T (p.Ala814Val)
c.200C>T (p.Ala67Val)
c.371C>T (p.Ala124Val)
c.2486C>T (p.Ala829Val)
2g.26477254G>CCA346122300OTOFc.2441C>G (p.Ala814Gly)
c.200C>G (p.Ala67Gly)
c.371C>G (p.Ala124Gly)
c.2486C>G (p.Ala829Gly)
2g.26477254G>TCA346122303OTOFc.2441C>A (p.Ala814Asp)
c.200C>A (p.Ala67Asp)
c.371C>A (p.Ala124Asp)
c.2486C>A (p.Ala829Asp)
 gnomAD v4
2g.26477255C>ACA346122310OTOFc.2440G>T (p.Ala814Ser)
c.199G>T (p.Ala67Ser)
c.370G>T (p.Ala124Ser)
c.2485G>T (p.Ala829Ser)
2g.26477255C=CA1239829766OTOFc.2440G= (p.Ala814=)
c.199G= (p.Ala67=)
c.370G= (p.Ala124=)
c.2485G= (p.Ala829=)
2g.26477255C>GCA346122317OTOFc.2440G>C (p.Ala814Pro)
c.199G>C (p.Ala67Pro)
c.370G>C (p.Ala124Pro)
c.2485G>C (p.Ala829Pro)
2g.26477255C>TCA346122329OTOFc.2440G>A (p.Ala814Thr)
c.199G>A (p.Ala67Thr)
c.370G>A (p.Ala124Thr)
c.2485G>A (p.Ala829Thr)
 dbSNP gnomAD v4
2g.26477256C>ACA425359946OTOFc.2439G>T (p.Arg813=)
c.198G>T (p.Arg66=)
c.369G>T (p.Arg123=)
c.2484G>T (p.Arg828=)
2g.26477256C>GCA425359948OTOFc.2439G>C (p.Arg813=)
c.198G>C (p.Arg66=)
c.369G>C (p.Arg123=)
c.2484G>C (p.Arg828=)
2g.26477256C>TCA425359945OTOFc.2439G>A (p.Arg813=)
c.198G>A (p.Arg66=)
c.369G>A (p.Arg123=)
c.2484G>A (p.Arg828=)
 gnomAD v4
2g.26477257C>ACA346122344OTOFc.2438G>T (p.Arg813Leu)
c.197G>T (p.Arg66Leu)
c.368G>T (p.Arg123Leu)
c.2483G>T (p.Arg828Leu)
 gnomAD v4
2g.26477257C=CA1239829769OTOFc.2438G= (p.Arg813=)
c.197G= (p.Arg66=)
c.368G= (p.Arg123=)
c.2483G= (p.Arg828=)
2g.26477257C>GCA346122348OTOFc.2438G>C (p.Arg813Pro)
c.197G>C (p.Arg66Pro)
c.368G>C (p.Arg123Pro)
c.2483G>C (p.Arg828Pro)
2g.26477257C>TCA1563898OTOFc.2438G>A (p.Arg813Gln)
c.197G>A (p.Arg66Gln)
c.368G>A (p.Arg123Gln)
c.2483G>A (p.Arg828Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477258G>ACA1563899OTOFc.2437C>T (p.Arg813Trp)
c.196C>T (p.Arg66Trp)
c.367C>T (p.Arg123Trp)
c.2482C>T (p.Arg828Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477258G>CCA346122356OTOFc.2437C>G (p.Arg813Gly)
c.196C>G (p.Arg66Gly)
c.367C>G (p.Arg123Gly)
c.2482C>G (p.Arg828Gly)
2g.26477258G=CA1239829772OTOFc.2437C= (p.Arg813=)
c.196C= (p.Arg66=)
c.367C= (p.Arg123=)
c.2482C= (p.Arg828=)
2g.26477258G>TCA425359950OTOFc.2437C>A (p.Arg813=)
c.196C>A (p.Arg66=)
c.367C>A (p.Arg123=)
c.2482C>A (p.Arg828=)
2g.26477259C>ACA425359951OTOFc.2436G>T (p.Leu812=)
c.195G>T (p.Leu65=)
c.366G>T (p.Leu122=)
c.2481G>T (p.Leu827=)
2g.26477259C>GCA425359952OTOFc.2436G>C (p.Leu812=)
c.195G>C (p.Leu65=)
c.366G>C (p.Leu122=)
c.2481G>C (p.Leu827=)
2g.26477259C>TCA425359953OTOFc.2436G>A (p.Leu812=)
c.195G>A (p.Leu65=)
c.366G>A (p.Leu122=)
c.2481G>A (p.Leu827=)
 ClinVar dbSNP
2g.26477260A>CCA346122394OTOFc.2435T>G (p.Leu812Arg)
c.194T>G (p.Leu65Arg)
c.365T>G (p.Leu122Arg)
c.2480T>G (p.Leu827Arg)
2g.26477260A>GCA346122399OTOFc.2435T>C (p.Leu812Pro)
c.194T>C (p.Leu65Pro)
c.365T>C (p.Leu122Pro)
c.2480T>C (p.Leu827Pro)
2g.26477260A>TCA346122373OTOFc.2435T>A (p.Leu812Gln)
c.194T>A (p.Leu65Gln)
c.365T>A (p.Leu122Gln)
c.2480T>A (p.Leu827Gln)
2g.26477261G>ACA425359957OTOFc.2434C>T (p.Leu812=)
c.193C>T (p.Leu65=)
c.364C>T (p.Leu122=)
c.2479C>T (p.Leu827=)
2g.26477261G>CCA346122405OTOFc.2434C>G (p.Leu812Val)
c.193C>G (p.Leu65Val)
c.364C>G (p.Leu122Val)
c.2479C>G (p.Leu827Val)
2g.26477261G>TCA346122406OTOFc.2434C>A (p.Leu812Met)
c.193C>A (p.Leu65Met)
c.364C>A (p.Leu122Met)
c.2479C>A (p.Leu827Met)
 gnomAD v4
2g.26477262C>ACA346122420OTOFc.2433G>T (p.Met811Ile)
c.192G>T (p.Met64Ile)
c.363G>T (p.Met121Ile)
c.2478G>T (p.Met826Ile)
2g.26477262C>GCA346122428OTOFc.2433G>C (p.Met811Ile)
c.192G>C (p.Met64Ile)
c.363G>C (p.Met121Ile)
c.2478G>C (p.Met826Ile)
2g.26477262C>TCA346122433OTOFc.2433G>A (p.Met811Ile)
c.192G>A (p.Met64Ile)
c.363G>A (p.Met121Ile)
c.2478G>A (p.Met826Ile)
2g.26477263A=CA1239829774OTOFc.2432T= (p.Met811=)
c.191T= (p.Met64=)
c.362T= (p.Met121=)
c.2477T= (p.Met826=)
2g.26477263A>CCA346122439OTOFc.2432T>G (p.Met811Arg)
c.191T>G (p.Met64Arg)
c.362T>G (p.Met121Arg)
c.2477T>G (p.Met826Arg)
2g.26477263A>GCA346122440OTOFc.2432T>C (p.Met811Thr)
c.191T>C (p.Met64Thr)
c.362T>C (p.Met121Thr)
c.2477T>C (p.Met826Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.26477263A>TCA346122441OTOFc.2432T>A (p.Met811Lys)
c.191T>A (p.Met64Lys)
c.362T>A (p.Met121Lys)
c.2477T>A (p.Met826Lys)
2g.26477264T>ACA346122445OTOFc.2431A>T (p.Met811Leu)
c.190A>T (p.Met64Leu)
c.361A>T (p.Met121Leu)
c.2476A>T (p.Met826Leu)
2g.26477264T>CCA346122453OTOFc.2431A>G (p.Met811Val)
c.190A>G (p.Met64Val)
c.361A>G (p.Met121Val)
c.2476A>G (p.Met826Val)
2g.26477264T>GCA346122455OTOFc.2431A>C (p.Met811Leu)
c.190A>C (p.Met64Leu)
c.361A>C (p.Met121Leu)
c.2476A>C (p.Met826Leu)
2g.26477265C>ACA346122458OTOFc.2430G>T (p.Arg810Ser)
c.189G>T (p.Arg63Ser)
c.360G>T (p.Arg120Ser)
c.2475G>T (p.Arg825Ser)
2g.26477265C>GCA346122460OTOFc.2430G>C (p.Arg810Ser)
c.189G>C (p.Arg63Ser)
c.360G>C (p.Arg120Ser)
c.2475G>C (p.Arg825Ser)
2g.26477265C>TCA425359962OTOFc.2430G>A (p.Arg810=)
c.189G>A (p.Arg63=)
c.360G>A (p.Arg120=)
c.2475G>A (p.Arg825=)
2g.26477266C>ACA346122491OTOFc.2429G>T (p.Arg810Met)
c.188G>T (p.Arg63Met)
c.359G>T (p.Arg120Met)
c.2474G>T (p.Arg825Met)
2g.26477266C=CA1239829776OTOFc.2429G= (p.Arg810=)
c.188G= (p.Arg63=)
c.359G= (p.Arg120=)
c.2474G= (p.Arg825=)
2g.26477266C>GCA44398340OTOFc.2429G>C (p.Arg810Thr)
c.188G>C (p.Arg63Thr)
c.359G>C (p.Arg120Thr)
c.2474G>C (p.Arg825Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.26477266C>TCA346122471OTOFc.2429G>A (p.Arg810Lys)
c.188G>A (p.Arg63Lys)
c.359G>A (p.Arg120Lys)
c.2474G>A (p.Arg825Lys)
2g.26477267T>ACA346122495OTOFc.2428A>T (p.Arg810Trp)
c.187A>T (p.Arg63Trp)
c.358A>T (p.Arg120Trp)
c.2473A>T (p.Arg825Trp)
2g.26477267T>CCA346122496OTOFc.2428A>G (p.Arg810Gly)
c.187A>G (p.Arg63Gly)
c.358A>G (p.Arg120Gly)
c.2473A>G (p.Arg825Gly)
2g.26477267T>GCA425359964OTOFc.2428A>C (p.Arg810=)
c.187A>C (p.Arg63=)
c.358A>C (p.Arg120=)
c.2473A>C (p.Arg825=)
2g.26477268G>ACA425359965OTOFc.2427C>T (p.Ala809=)
c.186C>T (p.Ala62=)
c.357C>T (p.Ala119=)
c.2472C>T (p.Ala824=)
2g.26477268G>CCA425359967OTOFc.2427C>G (p.Ala809=)
c.186C>G (p.Ala62=)
c.357C>G (p.Ala119=)
c.2472C>G (p.Ala824=)
2g.26477268G>TCA425359966OTOFc.2427C>A (p.Ala809=)
c.186C>A (p.Ala62=)
c.357C>A (p.Ala119=)
c.2472C>A (p.Ala824=)
 gnomAD v4
2g.26477269G>ACA1563900OTOFc.2426C>T (p.Ala809Val)
c.185C>T (p.Ala62Val)
c.356C>T (p.Ala119Val)
c.2471C>T (p.Ala824Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477269G>CCA346122508OTOFc.2426C>G (p.Ala809Gly)
c.185C>G (p.Ala62Gly)
c.356C>G (p.Ala119Gly)
c.2471C>G (p.Ala824Gly)
2g.26477269G=CA1239829780OTOFc.2426C= (p.Ala809=)
c.185C= (p.Ala62=)
c.356C= (p.Ala119=)
c.2471C= (p.Ala824=)
2g.26477269G>TCA346122513OTOFc.2426C>A (p.Ala809Asp)
c.185C>A (p.Ala62Asp)
c.356C>A (p.Ala119Asp)
c.2471C>A (p.Ala824Asp)
 gnomAD v4
2g.26477270C>ACA346122516OTOFc.2425G>T (p.Ala809Ser)
c.184G>T (p.Ala62Ser)
c.355G>T (p.Ala119Ser)
c.2470G>T (p.Ala824Ser)
 gnomAD v4
2g.26477270C=CA1239829783OTOFc.2425G= (p.Ala809=)
c.184G= (p.Ala62=)
c.355G= (p.Ala119=)
c.2470G= (p.Ala824=)
2g.26477270C>GCA346122520OTOFc.2425G>C (p.Ala809Pro)
c.184G>C (p.Ala62Pro)
c.355G>C (p.Ala119Pro)
c.2470G>C (p.Ala824Pro)
2g.26477270C>TCA346122523OTOFc.2425G>A (p.Ala809Thr)
c.184G>A (p.Ala62Thr)
c.355G>A (p.Ala119Thr)
c.2470G>A (p.Ala824Thr)
 dbSNP
2g.26477271C>ACA346122535OTOFc.2424G>T (p.Gln808His)
c.183G>T (p.Gln61His)
c.354G>T (p.Gln118His)
c.2469G>T (p.Gln823His)
2g.26477271C>GCA346122542OTOFc.2424G>C (p.Gln808His)
c.183G>C (p.Gln61His)
c.354G>C (p.Gln118His)
c.2469G>C (p.Gln823His)
2g.26477271C>TCA425359968OTOFc.2424G>A (p.Gln808=)
c.183G>A (p.Gln61=)
c.354G>A (p.Gln118=)
c.2469G>A (p.Gln823=)
2g.26477272T>ACA346122550OTOFc.2423A>T (p.Gln808Leu)
c.182A>T (p.Gln61Leu)
c.353A>T (p.Gln118Leu)
c.2468A>T (p.Gln823Leu)
2g.26477272T>CCA346122561OTOFc.2423A>G (p.Gln808Arg)
c.182A>G (p.Gln61Arg)
c.353A>G (p.Gln118Arg)
c.2468A>G (p.Gln823Arg)
2g.26477272T>GCA346122563OTOFc.2423A>C (p.Gln808Pro)
c.182A>C (p.Gln61Pro)
c.353A>C (p.Gln118Pro)
c.2468A>C (p.Gln823Pro)
 gnomAD v4
2g.26477273G>ACA1563901OTOFc.2422C>T (p.Gln808Ter)
c.181C>T (p.Gln61Ter)
c.352C>T (p.Gln118Ter)
c.2467C>T (p.Gln823Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477273G>CCA346122571OTOFc.2422C>G (p.Gln808Glu)
c.181C>G (p.Gln61Glu)
c.352C>G (p.Gln118Glu)
c.2467C>G (p.Gln823Glu)
2g.26477273G=CA1239829786OTOFc.2422C= (p.Gln808=)
c.181C= (p.Gln61=)
c.352C= (p.Gln118=)
c.2467C= (p.Gln823=)
2g.26477273G>TCA346122566OTOFc.2422C>A (p.Gln808Lys)
c.181C>A (p.Gln61Lys)
c.352C>A (p.Gln118Lys)
c.2467C>A (p.Gln823Lys)
2g.26477274C>ACA346122582OTOFc.2421G>T (p.Gln807His)
c.180G>T (p.Gln60His)
c.351G>T (p.Gln117His)
c.2466G>T (p.Gln822His)
2g.26477274C>GCA346122585OTOFc.2421G>C (p.Gln807His)
c.180G>C (p.Gln60His)
c.351G>C (p.Gln117His)
c.2466G>C (p.Gln822His)
2g.26477274C>TCA425359970OTOFc.2421G>A (p.Gln807=)
c.180G>A (p.Gln60=)
c.351G>A (p.Gln117=)
c.2466G>A (p.Gln822=)
 gnomAD v4
2g.26477275T>ACA346122589OTOFc.2420A>T (p.Gln807Leu)
c.179A>T (p.Gln60Leu)
c.350A>T (p.Gln117Leu)
c.2465A>T (p.Gln822Leu)
2g.26477275T>CCA346122594OTOFc.2420A>G (p.Gln807Arg)
c.179A>G (p.Gln60Arg)
c.350A>G (p.Gln117Arg)
c.2465A>G (p.Gln822Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477275T>GCA346122600OTOFc.2420A>C (p.Gln807Pro)
c.179A>C (p.Gln60Pro)
c.350A>C (p.Gln117Pro)
c.2465A>C (p.Gln822Pro)
2g.26477275T=CA1239829790OTOFc.2420A= (p.Gln807=)
c.179A= (p.Gln60=)
c.350A= (p.Gln117=)
c.2465A= (p.Gln822=)
2g.26477276G>ACA346122605OTOFc.2419C>T (p.Gln807Ter)
c.178C>T (p.Gln60Ter)
c.349C>T (p.Gln117Ter)
c.2464C>T (p.Gln822Ter)
 dbSNP COSMIC COSMIC COSMIC
2g.26477276G>CCA346122611OTOFc.2419C>G (p.Gln807Glu)
c.178C>G (p.Gln60Glu)
c.349C>G (p.Gln117Glu)
c.2464C>G (p.Gln822Glu)
2g.26477276G=CA1239829794OTOFc.2419C= (p.Gln807=)
c.178C= (p.Gln60=)
c.349C= (p.Gln117=)
c.2464C= (p.Gln822=)
2g.26477276G>TCA1563902OTOFc.2419C>A (p.Gln807Lys)
c.178C>A (p.Gln60Lys)
c.349C>A (p.Gln117Lys)
c.2464C>A (p.Gln822Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477277C>ACA425359972OTOFc.2418G>T (p.Gly806=)
c.177G>T (p.Gly59=)
c.348G>T (p.Gly116=)
c.2463G>T (p.Gly821=)
2g.26477277C>GCA425359973OTOFc.2418G>C (p.Gly806=)
c.177G>C (p.Gly59=)
c.348G>C (p.Gly116=)
c.2463G>C (p.Gly821=)
2g.26477277C>TCA425359971OTOFc.2418G>A (p.Gly806=)
c.177G>A (p.Gly59=)
c.348G>A (p.Gly116=)
c.2463G>A (p.Gly821=)
 gnomAD v4
2g.26477280delCA2658237874OTOFc.2418del (p.Gln807SerfsTer10)
c.177del (p.Gln60SerfsTer10)
c.348del (p.Gln117SerfsTer10)
c.2463del (p.Gln822SerfsTer10)
 gnomAD v4
2g.26477278C>ACA346122622OTOFc.2417G>T (p.Gly806Val)
c.176G>T (p.Gly59Val)
c.347G>T (p.Gly116Val)
c.2462G>T (p.Gly821Val)
2g.26477278C>GCA346122627OTOFc.2417G>C (p.Gly806Ala)
c.176G>C (p.Gly59Ala)
c.347G>C (p.Gly116Ala)
c.2462G>C (p.Gly821Ala)
 gnomAD v4
2g.26477278C>TCA346122631OTOFc.2417G>A (p.Gly806Glu)
c.176G>A (p.Gly59Glu)
c.347G>A (p.Gly116Glu)
c.2462G>A (p.Gly821Glu)
2g.26477279C>ACA346122643OTOFc.2416G>T (p.Gly806Trp)
c.175G>T (p.Gly59Trp)
c.346G>T (p.Gly116Trp)
c.2461G>T (p.Gly821Trp)
 gnomAD v4
2g.26477279C>GCA346122648OTOFc.2416G>C (p.Gly806Arg)
c.175G>C (p.Gly59Arg)
c.346G>C (p.Gly116Arg)
c.2461G>C (p.Gly821Arg)
2g.26477279C>TCA346122649OTOFc.2416G>A (p.Gly806Arg)
c.175G>A (p.Gly59Arg)
c.346G>A (p.Gly116Arg)
c.2461G>A (p.Gly821Arg)
 gnomAD v4
2g.26477280C>ACA346122663OTOFc.2415G>T (p.Met805Ile)
c.174G>T (p.Met58Ile)
c.345G>T (p.Met115Ile)
c.2460G>T (p.Met820Ile)
2g.26477280C>GCA346122654OTOFc.2415G>C (p.Met805Ile)
c.174G>C (p.Met58Ile)
c.345G>C (p.Met115Ile)
c.2460G>C (p.Met820Ile)
2g.26477280C>TCA346122658OTOFc.2415G>A (p.Met805Ile)
c.174G>A (p.Met58Ile)
c.345G>A (p.Met115Ile)
c.2460G>A (p.Met820Ile)
2g.26477281A>CCA346122669OTOFc.2414T>G (p.Met805Arg)
c.173T>G (p.Met58Arg)
c.344T>G (p.Met115Arg)
c.2459T>G (p.Met820Arg)
 gnomAD v4
2g.26477281A>GCA346122681OTOFc.2414T>C (p.Met805Thr)
c.173T>C (p.Met58Thr)
c.344T>C (p.Met115Thr)
c.2459T>C (p.Met820Thr)
2g.26477281A>TCA346122683OTOFc.2414T>A (p.Met805Lys)
c.173T>A (p.Met58Lys)
c.344T>A (p.Met115Lys)
c.2459T>A (p.Met820Lys)
2g.26477282T>ACA346122699OTOFc.2413A>T (p.Met805Leu)
c.172A>T (p.Met58Leu)
c.343A>T (p.Met115Leu)
c.2458A>T (p.Met820Leu)
2g.26477282T>CCA346122703OTOFc.2413A>G (p.Met805Val)
c.172A>G (p.Met58Val)
c.343A>G (p.Met115Val)
c.2458A>G (p.Met820Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26477282T>GCA346122712OTOFc.2413A>C (p.Met805Leu)
c.172A>C (p.Met58Leu)
c.343A>C (p.Met115Leu)
c.2458A>C (p.Met820Leu)
2g.26477282T=CA1239829800OTOFc.2413A= (p.Met805=)
c.172A= (p.Met58=)
c.343A= (p.Met115=)
c.2458A= (p.Met820=)
2g.26477283G>ACA425359978OTOFc.2412C>T (p.Asn804=)
c.171C>T (p.Asn57=)
c.342C>T (p.Asn114=)
c.2457C>T (p.Asn819=)
2g.26477283G>CCA346122718OTOFc.2412C>G (p.Asn804Lys)
c.171C>G (p.Asn57Lys)
c.342C>G (p.Asn114Lys)
c.2457C>G (p.Asn819Lys)
2g.26477283G>TCA346122719OTOFc.2412C>A (p.Asn804Lys)
c.171C>A (p.Asn57Lys)
c.342C>A (p.Asn114Lys)
c.2457C>A (p.Asn819Lys)
 gnomAD v4
2g.26477284T>ACA346122722OTOFc.2411A>T (p.Asn804Ile)
c.170A>T (p.Asn57Ile)
c.341A>T (p.Asn114Ile)
c.2456A>T (p.Asn819Ile)
2g.26477284T>CCA346122723OTOFc.2411A>G (p.Asn804Ser)
c.170A>G (p.Asn57Ser)
c.341A>G (p.Asn114Ser)
c.2456A>G (p.Asn819Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.26477284T>GCA346122729OTOFc.2411A>C (p.Asn804Thr)
c.170A>C (p.Asn57Thr)
c.341A>C (p.Asn114Thr)
c.2456A>C (p.Asn819Thr)
2g.26477284T=CA1239829805OTOFc.2411A= (p.Asn804=)
c.170A= (p.Asn57=)
c.341A= (p.Asn114=)
c.2456A= (p.Asn819=)
2g.26477287delCA2658237875OTOFc.2411del (p.Asn804ThrfsTer13)
c.170del (p.Asn57ThrfsTer13)
c.341del (p.Asn114ThrfsTer13)
c.2456del (p.Asn819ThrfsTer13)
 gnomAD v4
2g.26477285T>ACA346122734OTOFc.2410A>T (p.Asn804Tyr)
c.169A>T (p.Asn57Tyr)
c.340A>T (p.Asn114Tyr)
c.2455A>T (p.Asn819Tyr)
2g.26477285T>CCA346122741OTOFc.2410A>G (p.Asn804Asp)
c.169A>G (p.Asn57Asp)
c.340A>G (p.Asn114Asp)
c.2455A>G (p.Asn819Asp)
2g.26477285T>GCA346122733OTOFc.2410A>C (p.Asn804His)
c.169A>C (p.Asn57His)
c.340A>C (p.Asn114His)
c.2455A>C (p.Asn819His)
2g.26477286T>ACA346122748OTOFc.2409A>T (p.Glu803Asp)
c.168A>T (p.Glu56Asp)
c.339A>T (p.Glu113Asp)
c.2454A>T (p.Glu818Asp)
2g.26477286T>CCA425359986OTOFc.2409A>G (p.Glu803=)
c.168A>G (p.Glu56=)
c.339A>G (p.Glu113=)
c.2454A>G (p.Glu818=)
2g.26477286T>GCA346122750OTOFc.2409A>C (p.Glu803Asp)
c.168A>C (p.Glu56Asp)
c.339A>C (p.Glu113Asp)
c.2454A>C (p.Glu818Asp)
2g.26477287T>ACA346122756OTOFc.2408A>T (p.Glu803Val)
c.167A>T (p.Glu56Val)
c.338A>T (p.Glu113Val)
c.2453A>T (p.Glu818Val)
2g.26477287T>CCA346122759OTOFc.2408A>G (p.Glu803Gly)
c.167A>G (p.Glu56Gly)
c.338A>G (p.Glu113Gly)
c.2453A>G (p.Glu818Gly)
2g.26477287T>GCA346122761OTOFc.2408A>C (p.Glu803Ala)
c.167A>C (p.Glu56Ala)
c.338A>C (p.Glu113Ala)
c.2453A>C (p.Glu818Ala)
2g.26477288C>ACA346122765OTOFc.2407G>T (p.Glu803Ter)
c.166G>T (p.Glu56Ter)
c.337G>T (p.Glu113Ter)
c.2452G>T (p.Glu818Ter)
 gnomAD v4
2g.26477288C=CA1239829806OTOFc.2407G= (p.Glu803=)
c.166G= (p.Glu56=)
c.337G= (p.Glu113=)
c.2452G= (p.Glu818=)
2g.26477288C>GCA346122768OTOFc.2407G>C (p.Glu803Gln)
c.166G>C (p.Glu56Gln)
c.337G>C (p.Glu113Gln)
c.2452G>C (p.Glu818Gln)
 gnomAD v4
2g.26477288C>TCA1563903OTOFc.2407G>A (p.Glu803Lys)
c.166G>A (p.Glu56Lys)
c.337G>A (p.Glu113Lys)
c.2452G>A (p.Glu818Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477289C>ACA346122775OTOFc.2407-1G>T (n.2407-1G>T)
c.166-1G>T (n.166-1G>T)
c.337-1G>T (n.337-1G>T)
c.2452-1G>T (n.2452-1G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26477289C=CA1239829808OTOFc.2407-1G= (n.2407-1G=)
c.166-1G= (n.166-1G=)
c.337-1G= (n.337-1G=)
c.2452-1G= (n.2452-1G=)
2g.26477289C>GCA346122780OTOFc.2407-1G>C (n.2407-1G>C)
c.166-1G>C (n.166-1G>C)
c.337-1G>C (n.337-1G>C)
c.2452-1G>C (n.2452-1G>C)
2g.26477289C>TCA346122786OTOFc.2407-1G>A (n.2407-1G>A)
c.166-1G>A (n.166-1G>A)
c.337-1G>A (n.337-1G>A)
c.2452-1G>A (n.2452-1G>A)
2g.26477290delCA2580066194OTOFc.2407-2del (n.2407-2del)
c.166-2del (n.166-2del)
c.337-2del (n.337-2del)
c.2452-2del (n.2452-2del)
 ClinVar
2g.26477290T>ACA346122793OTOFc.2407-2A>T (n.2407-2A>T)
c.166-2A>T (n.166-2A>T)
c.337-2A>T (n.337-2A>T)
c.2452-2A>T (n.2452-2A>T)
2g.26477290T>CCA346122794OTOFc.2407-2A>G (n.2407-2A>G)
c.166-2A>G (n.166-2A>G)
c.337-2A>G (n.337-2A>G)
c.2452-2A>G (n.2452-2A>G)
2g.26477290T>GCA346122795OTOFc.2407-2A>C (n.2407-2A>C)
c.166-2A>C (n.166-2A>C)
c.337-2A>C (n.337-2A>C)
c.2452-2A>C (n.2452-2A>C)
2g.26477291G>TCA2658237876OTOFc.2407-3C>A (n.2407-3C>A)
c.166-3C>A (n.166-3C>A)
c.337-3C>A (n.337-3C>A)
c.2452-3C>A (n.2452-3C>A)
 gnomAD v4
2g.26477292C>ACA1563905OTOFc.2407-4G>T (n.2407-4G>T)
c.166-4G>T (n.166-4G>T)
c.337-4G>T (n.337-4G>T)
c.2452-4G>T (n.2452-4G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477292C=CA1239829812OTOFc.2407-4G= (n.2407-4G=)
c.166-4G= (n.166-4G=)
c.337-4G= (n.337-4G=)
c.2452-4G= (n.2452-4G=)
2g.26477292C>TCA1563904OTOFc.2407-4G>A (n.2407-4G>A)
c.166-4G>A (n.166-4G>A)
c.337-4G>A (n.337-4G>A)
c.2452-4G>A (n.2452-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477292_26477304delinsCGAAGGAGGGGGTCA1239829813OTOFc.2407-16_2407-4delinsACCCCCTCCTTCG (n.2407-16_2407-4delinsACCCCCTCCTTCG)
c.166-16_166-4delinsACCCCCTCCTTCG (n.166-16_166-4delinsACCCCCTCCTTCG)
c.337-16_337-4delinsACCCCCTCCTTCG (n.337-16_337-4delinsACCCCCTCCTTCG)
c.2452-16_2452-4delinsACCCCCTCCTTCG (n.2452-16_2452-4delinsACCCCCTCCTTCG)
2g.26477292_26477306delinsCGAAGGAGGGGGTGTCA1239829810OTOFc.2407-18_2407-4delinsACACCCCCTCCTTCG (n.2407-18_2407-4delinsACACCCCCTCCTTCG)
c.166-18_166-4delinsACACCCCCTCCTTCG (n.166-18_166-4delinsACACCCCCTCCTTCG)
c.337-18_337-4delinsACACCCCCTCCTTCG (n.337-18_337-4delinsACACCCCCTCCTTCG)
c.2452-18_2452-4delinsACACCCCCTCCTTCG (n.2452-18_2452-4delinsACACCCCCTCCTTCG)
2g.26477293G>ACA1563907OTOFc.2407-5C>T (n.2407-5C>T)
c.166-5C>T (n.166-5C>T)
c.337-5C>T (n.337-5C>T)
c.2452-5C>T (n.2452-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477293G=CA1239829820OTOFc.2407-5C= (n.2407-5C=)
c.166-5C= (n.166-5C=)
c.337-5C= (n.337-5C=)
c.2452-5C= (n.2452-5C=)
2g.26477294_26477296delCA2697547890OTOFc.2407-7_2407-5del (n.2407-7_2407-5del)
c.166-7_166-5del (n.166-7_166-5del)
c.337-7_337-5del (n.337-7_337-5del)
c.2452-7_2452-5del (n.2452-7_2452-5del)
 ClinVar
2g.26477294_26477305delCA767285045OTOFc.2407-16_2407-5del (n.2407-16_2407-5del)
c.166-16_166-5del (n.166-16_166-5del)
c.337-16_337-5del (n.337-16_337-5del)
c.2452-16_2452-5del (n.2452-16_2452-5del)
 ClinVar dbSNP
2g.26477293_26477306delCA1563906OTOFc.2407-18_2407-5del (n.2407-18_2407-5del)
c.166-18_166-5del (n.166-18_166-5del)
c.337-18_337-5del (n.337-18_337-5del)
c.2452-18_2452-5del (n.2452-18_2452-5del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477294A=CA1239829824OTOFc.2407-6T= (n.2407-6T=)
c.166-6T= (n.166-6T=)
c.337-6T= (n.337-6T=)
c.2452-6T= (n.2452-6T=)
2g.26477294A>GCA531761834OTOFc.2407-6T>C (n.2407-6T>C)
c.166-6T>C (n.166-6T>C)
c.337-6T>C (n.337-6T>C)
c.2452-6T>C (n.2452-6T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.26477295A=CA1239829826OTOFc.2407-7T= (n.2407-7T=)
c.166-7T= (n.166-7T=)
c.337-7T= (n.337-7T=)
c.2452-7T= (n.2452-7T=)
2g.26477295A>TCA767285048OTOFc.2407-7T>A (n.2407-7T>A)
c.166-7T>A (n.166-7T>A)
c.337-7T>A (n.337-7T>A)
c.2452-7T>A (n.2452-7T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.26477296G>ACA2576699501OTOFc.2407-8C>T (n.2407-8C>T)
c.166-8C>T (n.166-8C>T)
c.337-8C>T (n.337-8C>T)
c.2452-8C>T (n.2452-8C>T)
 gnomAD v4
2g.26477296G>TCA2658237877OTOFc.2407-8C>A (n.2407-8C>A)
c.166-8C>A (n.166-8C>A)
c.337-8C>A (n.337-8C>A)
c.2452-8C>A (n.2452-8C>A)
 gnomAD v4
2g.26477297G>ACA2658237878OTOFc.2407-9C>T (n.2407-9C>T)
c.166-9C>T (n.166-9C>T)
c.337-9C>T (n.337-9C>T)
c.2452-9C>T (n.2452-9C>T)
 gnomAD v4
2g.26477297G>CCA2658237879OTOFc.2407-9C>G (n.2407-9C>G)
c.166-9C>G (n.166-9C>G)
c.337-9C>G (n.337-9C>G)
c.2452-9C>G (n.2452-9C>G)
 ClinVar gnomAD v4
2g.26477297G=CA1239829827OTOFc.2407-9C= (n.2407-9C=)
c.166-9C= (n.166-9C=)
c.337-9C= (n.337-9C=)
c.2452-9C= (n.2452-9C=)
2g.26477297G>TCA1563908OTOFc.2407-9C>A (n.2407-9C>A)
c.166-9C>A (n.166-9C>A)
c.337-9C>A (n.337-9C>A)
c.2452-9C>A (n.2452-9C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477297_26477298delinsTTCA2499215833OTOFc.2407-10_2407-9delinsAA (n.2407-10_2407-9delinsAA)
c.166-10_166-9delinsAA (n.166-10_166-9delinsAA)
c.337-10_337-9delinsAA (n.337-10_337-9delinsAA)
c.2452-10_2452-9delinsAA (n.2452-10_2452-9delinsAA)
 ClinVar dbSNP
2g.26477298A=CA1239829831OTOFc.2407-10T= (n.2407-10T=)
c.166-10T= (n.166-10T=)
c.337-10T= (n.337-10T=)
c.2452-10T= (n.2452-10T=)
2g.26477298A>TCA1563909OTOFc.2407-10T>A (n.2407-10T>A)
c.166-10T>A (n.166-10T>A)
c.337-10T>A (n.337-10T>A)
c.2452-10T>A (n.2452-10T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477298_26477299delinsAGCA1239829830OTOFc.2407-11_2407-10delinsCT (n.2407-11_2407-10delinsCT)
c.166-11_166-10delinsCT (n.166-11_166-10delinsCT)
c.337-11_337-10delinsCT (n.337-11_337-10delinsCT)
c.2452-11_2452-10delinsCT (n.2452-11_2452-10delinsCT)
2g.26477299G>ACA531761835OTOFc.2407-11C>T (n.2407-11C>T)
c.166-11C>T (n.166-11C>T)
c.337-11C>T (n.337-11C>T)
c.2452-11C>T (n.2452-11C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26477299G>CCA1239829833OTOFc.2407-11C>G (n.2407-11C>G)
c.166-11C>G (n.166-11C>G)
c.337-11C>G (n.337-11C>G)
c.2452-11C>G (n.2452-11C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.26477299G=CA1239829835OTOFc.2407-11C= (n.2407-11C=)
c.166-11C= (n.166-11C=)
c.337-11C= (n.337-11C=)
c.2452-11C= (n.2452-11C=)
2g.26477299G>TCA2523587161OTOFc.2407-11C>A (n.2407-11C>A)
c.166-11C>A (n.166-11C>A)
c.337-11C>A (n.337-11C>A)
c.2452-11C>A (n.2452-11C>A)
 gnomAD v4
2g.26477303dupCA1239829832OTOFc.2407-11dup (n.2407-11dup)
c.166-11dup (n.166-11dup)
c.337-11dup (n.337-11dup)
c.2452-11dup (n.2452-11dup)
 dbSNP
2g.26477303delCA44398360OTOFc.2407-11del (n.2407-11del)
c.166-11del (n.166-11del)
c.337-11del (n.337-11del)
c.2452-11del (n.2452-11del)
 dbSNP
2g.26477300G>ACA44398364OTOFc.2407-12C>T (n.2407-12C>T)
c.166-12C>T (n.166-12C>T)
c.337-12C>T (n.337-12C>T)
c.2452-12C>T (n.2452-12C>T)
 dbSNP
2g.26477300G=CA1239829838OTOFc.2407-12C= (n.2407-12C=)
c.166-12C= (n.166-12C=)
c.337-12C= (n.337-12C=)
c.2452-12C= (n.2452-12C=)
2g.26477300G>TCA2658237880OTOFc.2407-12C>A (n.2407-12C>A)
c.166-12C>A (n.166-12C>A)
c.337-12C>A (n.337-12C>A)
c.2452-12C>A (n.2452-12C>A)
 gnomAD v4
2g.26477301G>CCA2658237881OTOFc.2407-13C>G (n.2407-13C>G)
c.166-13C>G (n.166-13C>G)
c.337-13C>G (n.337-13C>G)
c.2452-13C>G (n.2452-13C>G)
 gnomAD v4
2g.26477301G=CA1239829841OTOFc.2407-13C= (n.2407-13C=)
c.166-13C= (n.166-13C=)
c.337-13C= (n.337-13C=)
c.2452-13C= (n.2452-13C=)
2g.26477301G>TCA1239829842OTOFc.2407-13C>A (n.2407-13C>A)
c.166-13C>A (n.166-13C>A)
c.337-13C>A (n.337-13C>A)
c.2452-13C>A (n.2452-13C>A)
 dbSNP
2g.26477302G>ACA1563910OTOFc.2407-14C>T (n.2407-14C>T)
c.166-14C>T (n.166-14C>T)
c.337-14C>T (n.337-14C>T)
c.2452-14C>T (n.2452-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477302G=CA1239829846OTOFc.2407-14C= (n.2407-14C=)
c.166-14C= (n.166-14C=)
c.337-14C= (n.337-14C=)
c.2452-14C= (n.2452-14C=)
2g.26477302G>TCA1239829848OTOFc.2407-14C>A (n.2407-14C>A)
c.166-14C>A (n.166-14C>A)
c.337-14C>A (n.337-14C>A)
c.2452-14C>A (n.2452-14C>A)
 dbSNP gnomAD v4
2g.26477303G>ACA44398369OTOFc.2407-15C>T (n.2407-15C>T)
c.166-15C>T (n.166-15C>T)
c.337-15C>T (n.337-15C>T)
c.2452-15C>T (n.2452-15C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477303G=CA1239829850OTOFc.2407-15C= (n.2407-15C=)
c.166-15C= (n.166-15C=)
c.337-15C= (n.337-15C=)
c.2452-15C= (n.2452-15C=)
2g.26477303G>TCA531761836OTOFc.2407-15C>A (n.2407-15C>A)
c.166-15C>A (n.166-15C>A)
c.337-15C>A (n.337-15C>A)
c.2452-15C>A (n.2452-15C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26477304T>CCA2658237882OTOFc.2407-16A>G (n.2407-16A>G)
c.166-16A>G (n.166-16A>G)
c.337-16A>G (n.337-16A>G)
c.2452-16A>G (n.2452-16A>G)
 gnomAD v4
2g.26477304T>GCA1239829852OTOFc.2407-16A>C (n.2407-16A>C)
c.166-16A>C (n.166-16A>C)
c.337-16A>C (n.337-16A>C)
c.2452-16A>C (n.2452-16A>C)
 dbSNP
2g.26477304T=CA1239829853OTOFc.2407-16A= (n.2407-16A=)
c.166-16A= (n.166-16A=)
c.337-16A= (n.337-16A=)
c.2452-16A= (n.2452-16A=)
2g.26477305G>ACA1563911OTOFc.2407-17C>T (n.2407-17C>T)
c.166-17C>T (n.166-17C>T)
c.337-17C>T (n.337-17C>T)
c.2452-17C>T (n.2452-17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477305G>CCA767285091OTOFc.2407-17C>G (n.2407-17C>G)
c.166-17C>G (n.166-17C>G)
c.337-17C>G (n.337-17C>G)
c.2452-17C>G (n.2452-17C>G)
 dbSNP
2g.26477305G=CA1239829856OTOFc.2407-17C= (n.2407-17C=)
c.166-17C= (n.166-17C=)
c.337-17C= (n.337-17C=)
c.2452-17C= (n.2452-17C=)
2g.26477305G>TCA2576699502OTOFc.2407-17C>A (n.2407-17C>A)
c.166-17C>A (n.166-17C>A)
c.337-17C>A (n.337-17C>A)
c.2452-17C>A (n.2452-17C>A)
 gnomAD v4
2g.26477305_26477306delinsCCCA2580066195OTOFc.2407-18_2407-17delinsGG (n.2407-18_2407-17delinsGG)
c.166-18_166-17delinsGG (n.166-18_166-17delinsGG)
c.337-18_337-17delinsGG (n.337-18_337-17delinsGG)
c.2452-18_2452-17delinsGG (n.2452-18_2452-17delinsGG)
 ClinVar
2g.26477306T>CCA1563912OTOFc.2407-18A>G (n.2407-18A>G)
c.166-18A>G (n.166-18A>G)
c.337-18A>G (n.337-18A>G)
c.2452-18A>G (n.2452-18A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477306T=CA1239829860OTOFc.2407-18A= (n.2407-18A=)
c.166-18A= (n.166-18A=)
c.337-18A= (n.337-18A=)
c.2452-18A= (n.2452-18A=)
2g.26477307_26477308insCCCA1563913OTOFc.2407-19_2407-18insGG (n.2407-19_2407-18insGG)
c.166-19_166-18insGG (n.166-19_166-18insGG)
c.337-19_337-18insGG (n.337-19_337-18insGG)
c.2452-19_2452-18insGG (n.2452-19_2452-18insGG)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477308A>CCA2658237883OTOFc.2407-20T>G (n.2407-20T>G)
c.166-20T>G (n.166-20T>G)
c.337-20T>G (n.337-20T>G)
c.2452-20T>G (n.2452-20T>G)
 gnomAD v4
2g.26477309G>CCA2658237884OTOFc.2407-21C>G (n.2407-21C>G)
c.166-21C>G (n.166-21C>G)
c.337-21C>G (n.337-21C>G)
c.2452-21C>G (n.2452-21C>G)
 gnomAD v4
2g.26477309G>TCA2658237885OTOFc.2407-21C>A (n.2407-21C>A)
c.166-21C>A (n.166-21C>A)
c.337-21C>A (n.337-21C>A)
c.2452-21C>A (n.2452-21C>A)
 gnomAD v4
2g.26477310T>CCA1563914OTOFc.2407-22A>G (n.2407-22A>G)
c.166-22A>G (n.166-22A>G)
c.337-22A>G (n.337-22A>G)
c.2452-22A>G (n.2452-22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477310T=CA1239829864OTOFc.2407-22A= (n.2407-22A=)
c.166-22A= (n.166-22A=)
c.337-22A= (n.337-22A=)
c.2452-22A= (n.2452-22A=)
2g.26477311G>ACA2658237886OTOFc.2407-23C>T (n.2407-23C>T)
c.166-23C>T (n.166-23C>T)
c.337-23C>T (n.337-23C>T)
c.2452-23C>T (n.2452-23C>T)
 gnomAD v4

Number of alleles fetched