Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31531304_31531316delinsACCATAGCATCATCA1242198266SRD5A2c.547+55_547+67delinsATGATGCTATGGT (n.547+55_547+67delinsATGATGCTATGGT)
c.325+55_325+67delinsATGATGCTATGGT (n.325+55_325+67delinsATGATGCTATGGT)
c.292+55_292+67delinsATGATGCTATGGT (n.292+55_292+67delinsATGATGCTATGGT)
2g.31531307_31531318delCA531712297SRD5A2c.547+55_547+66del (n.547+55_547+66del)
c.325+55_325+66del (n.325+55_325+66del)
c.292+55_292+66del (n.292+55_292+66del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531307A>GCA2658498496SRD5A2c.547+64T>C (n.547+64T>C)
c.325+64T>C (n.325+64T>C)
c.292+64T>C (n.292+64T>C)
 gnomAD v4
2g.31531308T>CCA2658498497SRD5A2c.547+63A>G (n.547+63A>G)
c.325+63A>G (n.325+63A>G)
c.292+63A>G (n.292+63A>G)
 gnomAD v4
2g.31531308T>GCA2658498498SRD5A2c.547+63A>C (n.547+63A>C)
c.325+63A>C (n.325+63A>C)
c.292+63A>C (n.292+63A>C)
 gnomAD v4
2g.31531309A>GCA2658498500SRD5A2c.547+62T>C (n.547+62T>C)
c.325+62T>C (n.325+62T>C)
c.292+62T>C (n.292+62T>C)
 gnomAD v4
2g.31531310G>ACA2698935706SRD5A2c.547+61C>T (n.547+61C>T)
c.325+61C>T (n.325+61C>T)
c.292+61C>T (n.292+61C>T)
 dbSNP
2g.31531310G>TCA2576929448SRD5A2c.547+61C>A (n.547+61C>A)
c.325+61C>A (n.325+61C>A)
c.292+61C>A (n.292+61C>A)
 gnomAD v4
2g.31531312A>CCA2576929449SRD5A2c.547+59T>G (n.547+59T>G)
c.325+59T>G (n.325+59T>G)
c.292+59T>G (n.292+59T>G)
2g.31531312A>GCA2658498502SRD5A2c.547+59T>C (n.547+59T>C)
c.325+59T>C (n.325+59T>C)
c.292+59T>C (n.292+59T>C)
 gnomAD v4
2g.31531314C>ACA2658498504SRD5A2c.547+57G>T (n.547+57G>T)
c.325+57G>T (n.325+57G>T)
c.292+57G>T (n.292+57G>T)
 gnomAD v4
2g.31531314C=CA1242198268SRD5A2c.547+57G= (n.547+57G=)
c.325+57G= (n.325+57G=)
c.292+57G= (n.292+57G=)
2g.31531314C>TCA531712298SRD5A2c.547+57G>A (n.547+57G>A)
c.325+57G>A (n.325+57G>A)
c.292+57G>A (n.292+57G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531315A>TCA2576929450SRD5A2c.547+56T>A (n.547+56T>A)
c.325+56T>A (n.325+56T>A)
c.292+56T>A (n.292+56T>A)
2g.31531316T>CCA2521815489SRD5A2c.547+55A>G (n.547+55A>G)
c.325+55A>G (n.325+55A>G)
c.292+55A>G (n.292+55A>G)
2g.31531317C>ACA1242198270SRD5A2c.547+54G>T (n.547+54G>T)
c.325+54G>T (n.325+54G>T)
c.292+54G>T (n.292+54G>T)
 dbSNP gnomAD v4
2g.31531317C=CA1242198269SRD5A2c.547+54G= (n.547+54G=)
c.325+54G= (n.325+54G=)
c.292+54G= (n.292+54G=)
2g.31531319delCA2658498506SRD5A2c.547+54del (n.547+54del)
c.325+54del (n.325+54del)
c.292+54del (n.292+54del)
 gnomAD v4
2g.31531318C>ACA2527486166SRD5A2c.547+53G>T (n.547+53G>T)
c.325+53G>T (n.325+53G>T)
c.292+53G>T (n.292+53G>T)
2g.31531319C>ACA2658498510SRD5A2c.547+52G>T (n.547+52G>T)
c.325+52G>T (n.325+52G>T)
c.292+52G>T (n.292+52G>T)
 gnomAD v4
2g.31531320T>CCA45136523SRD5A2c.547+51A>G (n.547+51A>G)
c.325+51A>G (n.325+51A>G)
c.292+51A>G (n.292+51A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531320T=CA1242198271SRD5A2c.547+51A= (n.547+51A=)
c.325+51A= (n.325+51A=)
c.292+51A= (n.292+51A=)
2g.31531321G>ACA2658498513SRD5A2c.547+50C>T (n.547+50C>T)
c.325+50C>T (n.325+50C>T)
c.292+50C>T (n.292+50C>T)
 gnomAD v4
2g.31531321G>CCA1599908SRD5A2c.547+50C>G (n.547+50C>G)
c.325+50C>G (n.325+50C>G)
c.292+50C>G (n.292+50C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531321G=CA1242198272SRD5A2c.547+50C= (n.547+50C=)
c.325+50C= (n.325+50C=)
c.292+50C= (n.292+50C=)
2g.31531323delCA2658498512SRD5A2c.547+50del (n.547+50del)
c.325+50del (n.325+50del)
c.292+50del (n.292+50del)
 gnomAD v4
2g.31531322G=CA1242198273SRD5A2c.547+49C= (n.547+49C=)
c.325+49C= (n.325+49C=)
c.292+49C= (n.292+49C=)
2g.31531322G>TCA531712303SRD5A2c.547+49C>A (n.547+49C>A)
c.325+49C>A (n.325+49C>A)
c.292+49C>A (n.292+49C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31531323G>TCA2576929451SRD5A2c.547+48C>A (n.547+48C>A)
c.325+48C>A (n.325+48C>A)
c.292+48C>A (n.292+48C>A)
 gnomAD v4
2g.31531324A=CA1242198274SRD5A2c.547+47T= (n.547+47T=)
c.325+47T= (n.325+47T=)
c.292+47T= (n.292+47T=)
2g.31531324A>GCA2658498519SRD5A2c.547+47T>C (n.547+47T>C)
c.325+47T>C (n.325+47T>C)
c.292+47T>C (n.292+47T>C)
 gnomAD v4
2g.31531324A>TCA531712305SRD5A2c.547+47T>A (n.547+47T>A)
c.325+47T>A (n.325+47T>A)
c.292+47T>A (n.292+47T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.31531325C>ACA45136524SRD5A2c.547+46G>T (n.547+46G>T)
c.325+46G>T (n.325+46G>T)
c.292+46G>T (n.292+46G>T)
 dbSNP
2g.31531325C=CA1242198275SRD5A2c.547+46G= (n.547+46G=)
c.325+46G= (n.325+46G=)
c.292+46G= (n.292+46G=)
2g.31531325C>TCA2658498520SRD5A2c.547+46G>A (n.547+46G>A)
c.325+46G>A (n.325+46G>A)
c.292+46G>A (n.292+46G>A)
 gnomAD v4
2g.31531326A=CA1242198276SRD5A2c.547+45T= (n.547+45T=)
c.325+45T= (n.325+45T=)
c.292+45T= (n.292+45T=)
2g.31531326A>CCA2658498522SRD5A2c.547+45T>G (n.547+45T>G)
c.325+45T>G (n.325+45T>G)
c.292+45T>G (n.292+45T>G)
 gnomAD v4
2g.31531326A>GCA2658498523SRD5A2c.547+45T>C (n.547+45T>C)
c.325+45T>C (n.325+45T>C)
c.292+45T>C (n.292+45T>C)
 gnomAD v4
2g.31531326A>TCA531712307SRD5A2c.547+45T>A (n.547+45T>A)
c.325+45T>A (n.325+45T>A)
c.292+45T>A (n.292+45T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531327G>CCA2658498524SRD5A2c.547+44C>G (n.547+44C>G)
c.325+44C>G (n.325+44C>G)
c.292+44C>G (n.292+44C>G)
 gnomAD v4
2g.31531327G>TCA2658498525SRD5A2c.547+44C>A (n.547+44C>A)
c.325+44C>A (n.325+44C>A)
c.292+44C>A (n.292+44C>A)
 gnomAD v4
2g.31531328G=CA1242198277SRD5A2c.547+43C= (n.547+43C=)
c.325+43C= (n.325+43C=)
c.292+43C= (n.292+43C=)
2g.31531328G>TCA1599909SRD5A2c.547+43C>A (n.547+43C>A)
c.325+43C>A (n.325+43C>A)
c.292+43C>A (n.292+43C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531329C>ACA767759991SRD5A2c.547+42G>T (n.547+42G>T)
c.325+42G>T (n.325+42G>T)
c.292+42G>T (n.292+42G>T)
 dbSNP gnomAD v4
2g.31531329C=CA1242198278SRD5A2c.547+42G= (n.547+42G=)
c.325+42G= (n.325+42G=)
c.292+42G= (n.292+42G=)
2g.31531330T>CCA2576929452SRD5A2c.547+41A>G (n.547+41A>G)
c.325+41A>G (n.325+41A>G)
c.292+41A>G (n.292+41A>G)
 gnomAD v4
2g.31531331C>TCA2576929453SRD5A2c.547+40G>A (n.547+40G>A)
c.325+40G>A (n.325+40G>A)
c.292+40G>A (n.292+40G>A)
 gnomAD v4
2g.31531332delCA2658498531SRD5A2c.547+40del (n.547+40del)
c.325+40del (n.325+40del)
c.292+40del (n.292+40del)
 gnomAD v4
2g.31531332C>GCA2658498532SRD5A2c.547+39G>C (n.547+39G>C)
c.325+39G>C (n.325+39G>C)
c.292+39G>C (n.292+39G>C)
 gnomAD v4
2g.31531333A=CA1242198279SRD5A2c.547+38T= (n.547+38T=)
c.325+38T= (n.325+38T=)
c.292+38T= (n.292+38T=)
2g.31531333A>GCA767759996SRD5A2c.547+38T>C (n.547+38T>C)
c.325+38T>C (n.325+38T>C)
c.292+38T>C (n.292+38T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.31531334G>ACA2740260374SRD5A2c.547+37C>T (n.547+37C>T)
c.325+37C>T (n.325+37C>T)
c.292+37C>T (n.292+37C>T)
2g.31531334G>TCA2658498535SRD5A2c.547+37C>A (n.547+37C>A)
c.325+37C>A (n.325+37C>A)
c.292+37C>A (n.292+37C>A)
 gnomAD v4
2g.31531335G>ACA1242198281SRD5A2c.547+36C>T (n.547+36C>T)
c.325+36C>T (n.325+36C>T)
c.292+36C>T (n.292+36C>T)
 dbSNP
2g.31531335G=CA1242198280SRD5A2c.547+36C= (n.547+36C=)
c.325+36C= (n.325+36C=)
c.292+36C= (n.292+36C=)
2g.31531335G>TCA2658498536SRD5A2c.547+36C>A (n.547+36C>A)
c.325+36C>A (n.325+36C>A)
c.292+36C>A (n.292+36C>A)
 gnomAD v4
2g.31531336G>ACA531712310SRD5A2c.547+35C>T (n.547+35C>T)
c.325+35C>T (n.325+35C>T)
c.292+35C>T (n.292+35C>T)
 dbSNP gnomAD v2
2g.31531336G=CA1242198282SRD5A2c.547+35C= (n.547+35C=)
c.325+35C= (n.325+35C=)
c.292+35C= (n.292+35C=)
2g.31531336G>TCA2658498537SRD5A2c.547+35C>A (n.547+35C>A)
c.325+35C>A (n.325+35C>A)
c.292+35C>A (n.292+35C>A)
 gnomAD v4
2g.31531338A=CA1242198283SRD5A2c.547+33T= (n.547+33T=)
c.325+33T= (n.325+33T=)
c.292+33T= (n.292+33T=)
2g.31531338A>CCA1599910SRD5A2c.547+33T>G (n.547+33T>G)
c.325+33T>G (n.325+33T>G)
c.292+33T>G (n.292+33T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531338A>TCA2576929454SRD5A2c.547+33T>A (n.547+33T>A)
c.325+33T>A (n.325+33T>A)
c.292+33T>A (n.292+33T>A)
2g.31531339G>ACA531712315SRD5A2c.547+32C>T (n.547+32C>T)
c.325+32C>T (n.325+32C>T)
c.292+32C>T (n.292+32C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.31531339G>CCA1599911SRD5A2c.547+32C>G (n.547+32C>G)
c.325+32C>G (n.325+32C>G)
c.292+32C>G (n.292+32C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531339G=CA1242198284SRD5A2c.547+32C= (n.547+32C=)
c.325+32C= (n.325+32C=)
c.292+32C= (n.292+32C=)
2g.31531339G>TCA2658498543SRD5A2c.547+32C>A (n.547+32C>A)
c.325+32C>A (n.325+32C>A)
c.292+32C>A (n.292+32C>A)
 gnomAD v4
2g.31531340A>GCA2658498544SRD5A2c.547+31T>C (n.547+31T>C)
c.325+31T>C (n.325+31T>C)
c.292+31T>C (n.292+31T>C)
 gnomAD v4
2g.31531341G>ACA1599912SRD5A2c.547+30C>T (n.547+30C>T)
c.325+30C>T (n.325+30C>T)
c.292+30C>T (n.292+30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531341G=CA1242198285SRD5A2c.547+30C= (n.547+30C=)
c.325+30C= (n.325+30C=)
c.292+30C= (n.292+30C=)
2g.31531341G>TCA2658498548SRD5A2c.547+30C>A (n.547+30C>A)
c.325+30C>A (n.325+30C>A)
c.292+30C>A (n.292+30C>A)
 gnomAD v4
2g.31531342T>CCA2658498550SRD5A2c.547+29A>G (n.547+29A>G)
c.325+29A>G (n.325+29A>G)
c.292+29A>G (n.292+29A>G)
 gnomAD v4
2g.31531342T>GCA1242198288SRD5A2c.547+29A>C (n.547+29A>C)
c.325+29A>C (n.325+29A>C)
c.292+29A>C (n.292+29A>C)
 dbSNP gnomAD v4
2g.31531342T=CA1242198287SRD5A2c.547+29A= (n.547+29A=)
c.325+29A= (n.325+29A=)
c.292+29A= (n.292+29A=)
2g.31531342_31531344delinsTGACA1242198286SRD5A2c.547+27_547+29delinsTCA (n.547+27_547+29delinsTCA)
c.325+27_325+29delinsTCA (n.325+27_325+29delinsTCA)
c.292+27_292+29delinsTCA (n.292+27_292+29delinsTCA)
2g.31531343G>TCA2658498552SRD5A2c.547+28C>A (n.547+28C>A)
c.325+28C>A (n.325+28C>A)
c.292+28C>A (n.292+28C>A)
 gnomAD v4
2g.31531346_31531347delCA531712319SRD5A2c.547+27_547+28del (n.547+27_547+28del)
c.325+27_325+28del (n.325+27_325+28del)
c.292+27_292+28del (n.292+27_292+28del)
 dbSNP gnomAD v2 gnomAD v4
2g.31531344A>GCA2511269172SRD5A2c.547+27T>C (n.547+27T>C)
c.325+27T>C (n.325+27T>C)
c.292+27T>C (n.292+27T>C)
 gnomAD v4
2g.31531345G>CCA45136525SRD5A2c.547+26C>G (n.547+26C>G)
c.325+26C>G (n.325+26C>G)
c.292+26C>G (n.292+26C>G)
 dbSNP gnomAD v4
2g.31531345G=CA1242198289SRD5A2c.547+26C= (n.547+26C=)
c.325+26C= (n.325+26C=)
c.292+26C= (n.292+26C=)
2g.31531345G>TCA2658498553SRD5A2c.547+26C>A (n.547+26C>A)
c.325+26C>A (n.325+26C>A)
c.292+26C>A (n.292+26C>A)
 gnomAD v4
2g.31531346A=CA1242198290SRD5A2c.547+25T= (n.547+25T=)
c.325+25T= (n.325+25T=)
c.292+25T= (n.292+25T=)
2g.31531346A>CCA2658498554SRD5A2c.547+25T>G (n.547+25T>G)
c.325+25T>G (n.325+25T>G)
c.292+25T>G (n.292+25T>G)
 gnomAD v4
2g.31531346A>GCA531712320SRD5A2c.547+25T>C (n.547+25T>C)
c.325+25T>C (n.325+25T>C)
c.292+25T>C (n.292+25T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531347G>ACA2570828935SRD5A2c.547+24C>T (n.547+24C>T)
c.325+24C>T (n.325+24C>T)
c.292+24C>T (n.292+24C>T)
 gnomAD v4
2g.31531347G>TCA2576929455SRD5A2c.547+24C>A (n.547+24C>A)
c.325+24C>A (n.325+24C>A)
c.292+24C>A (n.292+24C>A)
 gnomAD v4
2g.31531350T>ACA2658498556SRD5A2c.547+21A>T (n.547+21A>T)
c.325+21A>T (n.325+21A>T)
c.292+21A>T (n.292+21A>T)
 gnomAD v4
2g.31531351G>CCA2658498561SRD5A2c.547+20C>G (n.547+20C>G)
c.325+20C>G (n.325+20C>G)
c.292+20C>G (n.292+20C>G)
 gnomAD v4
2g.31531351G>TCA2576929457SRD5A2c.547+20C>A (n.547+20C>A)
c.325+20C>A (n.325+20C>A)
c.292+20C>A (n.292+20C>A)
2g.31531355dupCA2658498559SRD5A2c.547+20dup (n.547+20dup)
c.325+20dup (n.325+20dup)
c.292+20dup (n.292+20dup)
 gnomAD v4
2g.31531355delCA2658498560SRD5A2c.547+20del (n.547+20del)
c.325+20del (n.325+20del)
c.292+20del (n.292+20del)
 gnomAD v4
2g.31531354_31531355delCA2576929456SRD5A2c.547+19_547+20del (n.547+19_547+20del)
c.325+19_325+20del (n.325+19_325+20del)
c.292+19_292+20del (n.292+19_292+20del)
2g.31531352G>ACA2739274289SRD5A2c.547+19C>T (n.547+19C>T)
c.325+19C>T (n.325+19C>T)
c.292+19C>T (n.292+19C>T)
 ClinVar
2g.31531352G>CCA1242198292SRD5A2c.547+19C>G (n.547+19C>G)
c.325+19C>G (n.325+19C>G)
c.292+19C>G (n.292+19C>G)
 ClinVar dbSNP gnomAD v4
2g.31531352G=CA1242198291SRD5A2c.547+19C= (n.547+19C=)
c.325+19C= (n.325+19C=)
c.292+19C= (n.292+19C=)
2g.31531352G>TCA2658498565SRD5A2c.547+19C>A (n.547+19C>A)
c.325+19C>A (n.325+19C>A)
c.292+19C>A (n.292+19C>A)
 gnomAD v4
2g.31531353G>ACA2533108731SRD5A2c.547+18C>T (n.547+18C>T)
c.325+18C>T (n.325+18C>T)
c.292+18C>T (n.292+18C>T)
 gnomAD v4
2g.31531354G>ACA1599913SRD5A2c.547+17C>T (n.547+17C>T)
c.325+17C>T (n.325+17C>T)
c.292+17C>T (n.292+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531354G=CA1242198293SRD5A2c.547+17C= (n.547+17C=)
c.325+17C= (n.325+17C=)
c.292+17C= (n.292+17C=)
2g.31531354G>TCA2658498572SRD5A2c.547+17C>A (n.547+17C>A)
c.325+17C>A (n.325+17C>A)
c.292+17C>A (n.292+17C>A)
 gnomAD v4
2g.31531355G>ACA1242198295SRD5A2c.547+16C>T (n.547+16C>T)
c.325+16C>T (n.325+16C>T)
c.292+16C>T (n.292+16C>T)
 dbSNP gnomAD v4
2g.31531355G=CA1242198294SRD5A2c.547+16C= (n.547+16C=)
c.325+16C= (n.325+16C=)
c.292+16C= (n.292+16C=)
2g.31531355G>TCA1028963412SRD5A2c.547+16C>A (n.547+16C>A)
c.325+16C>A (n.325+16C>A)
c.292+16C>A (n.292+16C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.31531356C>ACA2658498579SRD5A2c.547+15G>T (n.547+15G>T)
c.325+15G>T (n.325+15G>T)
c.292+15G>T (n.292+15G>T)
 gnomAD v4
2g.31531356C>TCA2658498578SRD5A2c.547+15G>A (n.547+15G>A)
c.325+15G>A (n.325+15G>A)
c.292+15G>A (n.292+15G>A)
 gnomAD v4
2g.31531357A=CA1242198296SRD5A2c.547+14T= (n.547+14T=)
c.325+14T= (n.325+14T=)
c.292+14T= (n.292+14T=)
2g.31531357A>GCA531712323SRD5A2c.547+14T>C (n.547+14T>C)
c.325+14T>C (n.325+14T>C)
c.292+14T>C (n.292+14T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.31531358G>ACA2658498583SRD5A2c.547+13C>T (n.547+13C>T)
c.325+13C>T (n.325+13C>T)
c.292+13C>T (n.292+13C>T)
 gnomAD v4
2g.31531358G>TCA2576929459SRD5A2c.547+13C>A (n.547+13C>A)
c.325+13C>A (n.325+13C>A)
c.292+13C>A (n.292+13C>A)
 gnomAD v4
2g.31531361delCA2576929458SRD5A2c.547+13del (n.547+13del)
c.325+13del (n.325+13del)
c.292+13del (n.292+13del)
 gnomAD v4
2g.31531359G>ACA531712324SRD5A2c.547+12C>T (n.547+12C>T)
c.325+12C>T (n.325+12C>T)
c.292+12C>T (n.292+12C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531359G=CA1242198297SRD5A2c.547+12C= (n.547+12C=)
c.325+12C= (n.325+12C=)
c.292+12C= (n.292+12C=)
2g.31531359G>TCA2658498586SRD5A2c.547+12C>A (n.547+12C>A)
c.325+12C>A (n.325+12C>A)
c.292+12C>A (n.292+12C>A)
 gnomAD v4
2g.31531360G>ACA2658498589SRD5A2c.547+11C>T (n.547+11C>T)
c.325+11C>T (n.325+11C>T)
c.292+11C>T (n.292+11C>T)
 gnomAD v4
2g.31531360G>CCA531712325SRD5A2c.547+11C>G (n.547+11C>G)
c.325+11C>G (n.325+11C>G)
c.292+11C>G (n.292+11C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531360G=CA1242198298SRD5A2c.547+11C= (n.547+11C=)
c.325+11C= (n.325+11C=)
c.292+11C= (n.292+11C=)
2g.31531360G>TCA1242198299SRD5A2c.547+11C>A (n.547+11C>A)
c.325+11C>A (n.325+11C>A)
c.292+11C>A (n.292+11C>A)
 dbSNP gnomAD v4
2g.31531361G>ACA2658498592SRD5A2c.547+10C>T (n.547+10C>T)
c.325+10C>T (n.325+10C>T)
c.292+10C>T (n.292+10C>T)
 gnomAD v4
2g.31531361G>TCA2658498594SRD5A2c.547+10C>A (n.547+10C>A)
c.325+10C>A (n.325+10C>A)
c.292+10C>A (n.292+10C>A)
 gnomAD v4
2g.31531362A>CCA2658498596SRD5A2c.547+9T>G (n.547+9T>G)
c.325+9T>G (n.325+9T>G)
c.292+9T>G (n.292+9T>G)
 gnomAD v4
2g.31531362A>GCA2658498597SRD5A2c.547+9T>C (n.547+9T>C)
c.325+9T>C (n.325+9T>C)
c.292+9T>C (n.292+9T>C)
 gnomAD v4
2g.31531362A>TCA2658498599SRD5A2c.547+9T>A (n.547+9T>A)
c.325+9T>A (n.325+9T>A)
c.292+9T>A (n.292+9T>A)
 gnomAD v4
2g.31531363G>TCA2658498601SRD5A2c.547+8C>A (n.547+8C>A)
c.325+8C>A (n.325+8C>A)
c.292+8C>A (n.292+8C>A)
 gnomAD v4
2g.31531364A=CA1242198300SRD5A2c.547+7T= (n.547+7T=)
c.325+7T= (n.325+7T=)
c.292+7T= (n.292+7T=)
2g.31531364A>GCA767760019SRD5A2c.547+7T>C (n.547+7T>C)
c.325+7T>C (n.325+7T>C)
c.292+7T>C (n.292+7T>C)
 dbSNP gnomAD v4
2g.31531364A>TCA2658498603SRD5A2c.547+7T>A (n.547+7T>A)
c.325+7T>A (n.325+7T>A)
c.292+7T>A (n.292+7T>A)
 gnomAD v4
2g.31531365C>ACA531712326SRD5A2c.547+6G>T (n.547+6G>T)
c.325+6G>T (n.325+6G>T)
c.292+6G>T (n.292+6G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.31531365C=CA1242198301SRD5A2c.547+6G= (n.547+6G=)
c.325+6G= (n.325+6G=)
c.292+6G= (n.292+6G=)
2g.31531365C>TCA767760025SRD5A2c.547+6G>A (n.547+6G>A)
c.325+6G>A (n.325+6G>A)
c.292+6G>A (n.292+6G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.31531366A>CCA2658498608SRD5A2c.547+5T>G (n.547+5T>G)
c.325+5T>G (n.325+5T>G)
c.292+5T>G (n.292+5T>G)
 gnomAD v4
2g.31531366A>TCA2658498609SRD5A2c.547+5T>A (n.547+5T>A)
c.325+5T>A (n.325+5T>A)
c.292+5T>A (n.292+5T>A)
 gnomAD v4
2g.31531367T>ACA2658498613SRD5A2c.547+4A>T (n.547+4A>T)
c.325+4A>T (n.325+4A>T)
c.292+4A>T (n.292+4A>T)
 gnomAD v4
2g.31531367T>CCA2658498611SRD5A2c.547+4A>G (n.547+4A>G)
c.325+4A>G (n.325+4A>G)
c.292+4A>G (n.292+4A>G)
 gnomAD v4
2g.31531368T>CCA2576929460SRD5A2c.547+3A>G (n.547+3A>G)
c.325+3A>G (n.325+3A>G)
c.292+3A>G (n.292+3A>G)
 gnomAD v4
2g.31531369A>CCA346598151SRD5A2c.547+2T>G (n.547+2T>G)
c.325+2T>G (n.325+2T>G)
c.292+2T>G (n.292+2T>G)
2g.31531369A>GCA346598152SRD5A2c.547+2T>C (n.547+2T>C)
c.325+2T>C (n.325+2T>C)
c.292+2T>C (n.292+2T>C)
 gnomAD v4
2g.31531369A>TCA346598153SRD5A2c.547+2T>A (n.547+2T>A)
c.325+2T>A (n.325+2T>A)
c.292+2T>A (n.292+2T>A)
2g.31531370C>ACA346598154SRD5A2c.547+1G>T (n.547+1G>T)
c.325+1G>T (n.325+1G>T)
c.292+1G>T (n.292+1G>T)
 gnomAD v4
2g.31531370C>GCA346598155SRD5A2c.547+1G>C (n.547+1G>C)
c.325+1G>C (n.325+1G>C)
c.292+1G>C (n.292+1G>C)
 ClinVar
2g.31531370C>TCA346598156SRD5A2c.547+1G>A (n.547+1G>A)
c.325+1G>A (n.325+1G>A)
c.292+1G>A (n.292+1G>A)
 gnomAD v4
2g.31531371C>ACA346598157SRD5A2c.547G>T (p.Gly183Cys)
c.325G>T (p.Gly109Cys)
c.292G>T (p.Gly98Cys)
 gnomAD v4
2g.31531371C=CA1242198302SRD5A2c.547G= (p.Gly183=)
c.325G= (p.Gly109=)
c.292G= (p.Gly98=)
2g.31531371C>GCA346598158SRD5A2c.547G>C (p.Gly183Arg)
c.325G>C (p.Gly109Arg)
c.292G>C (p.Gly98Arg)
2g.31531371C>TCA340072SRD5A2c.547G>A (p.Gly183Ser)
c.325G>A (p.Gly109Ser)
c.292G>A (p.Gly98Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531372T>ACA346598159SRD5A2c.546A>T (p.Gln182His)
c.324A>T (p.Gln108His)
c.291A>T (p.Gln97His)
2g.31531372T>CCA425567502SRD5A2c.546A>G (p.Gln182=)
c.324A>G (p.Gln108=)
c.291A>G (p.Gln97=)
2g.31531372T>GCA346598160SRD5A2c.546A>C (p.Gln182His)
c.324A>C (p.Gln108His)
c.291A>C (p.Gln97His)
2g.31531373T>ACA346598162SRD5A2c.545A>T (p.Gln182Leu)
c.323A>T (p.Gln108Leu)
c.290A>T (p.Gln97Leu)
 COSMIC
2g.31531373T>CCA346598163SRD5A2c.545A>G (p.Gln182Arg)
c.323A>G (p.Gln108Arg)
c.290A>G (p.Gln97Arg)
2g.31531373T>GCA346598161SRD5A2c.545A>C (p.Gln182Pro)
c.323A>C (p.Gln108Pro)
c.290A>C (p.Gln97Pro)
2g.31531374G>ACA346598164SRD5A2c.544C>T (p.Gln182Ter)
c.322C>T (p.Gln108Ter)
c.289C>T (p.Gln97Ter)
 ClinVar gnomAD v4
2g.31531374G>CCA346598165SRD5A2c.544C>G (p.Gln182Glu)
c.322C>G (p.Gln108Glu)
c.289C>G (p.Gln97Glu)
 gnomAD v4
2g.31531374G>TCA346598166SRD5A2c.544C>A (p.Gln182Lys)
c.322C>A (p.Gln108Lys)
c.289C>A (p.Gln97Lys)
2g.31531375T>ACA425567503SRD5A2c.543A>T (p.Pro181=)
c.321A>T (p.Pro107=)
c.288A>T (p.Pro96=)
 gnomAD v4
2g.31531375T>CCA425567504SRD5A2c.543A>G (p.Pro181=)
c.321A>G (p.Pro107=)
c.288A>G (p.Pro96=)
 gnomAD v4
2g.31531375T>GCA425567505SRD5A2c.543A>C (p.Pro181=)
c.321A>C (p.Pro107=)
c.288A>C (p.Pro96=)
2g.31531375_31531376delinsTGCA1242198303SRD5A2c.542_543delinsCA (p.Pro181=)
c.320_321delinsCA (p.Pro107=)
c.287_288delinsCA (p.Pro96=)
2g.31531376G>ACA16042440SRD5A2c.542C>T (p.Pro181Leu)
c.320C>T (p.Pro107Leu)
c.287C>T (p.Pro96Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531376G>CCA346598167SRD5A2c.542C>G (p.Pro181Arg)
c.320C>G (p.Pro107Arg)
c.287C>G (p.Pro96Arg)
2g.31531376G=CA1242198304SRD5A2c.542C= (p.Pro181=)
c.320C= (p.Pro107=)
c.287C= (p.Pro96=)
2g.31531376G>TCA346598168SRD5A2c.542C>A (p.Pro181Gln)
c.320C>A (p.Pro107Gln)
c.287C>A (p.Pro96Gln)
 gnomAD v4
2g.31531377delCA531712329SRD5A2c.542del (p.Pro181HisfsTer?)
c.320del (p.Pro107HisfsTer?)
c.287del (p.Pro96HisfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531377G>ACA346598169SRD5A2c.541C>T (p.Pro181Ser)
c.319C>T (p.Pro107Ser)
c.286C>T (p.Pro96Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.31531377G>CCA346598171SRD5A2c.541C>G (p.Pro181Ala)
c.319C>G (p.Pro107Ala)
c.286C>G (p.Pro96Ala)
2g.31531377G=CA1242198305SRD5A2c.541C= (p.Pro181=)
c.319C= (p.Pro107=)
c.286C= (p.Pro96=)
2g.31531377G>TCA346598170SRD5A2c.541C>A (p.Pro181Thr)
c.319C>A (p.Pro107Thr)
c.286C>A (p.Pro96Thr)
 gnomAD v4
2g.31531378A>CCA346598172SRD5A2c.540T>G (p.Ile180Met)
c.318T>G (p.Ile106Met)
c.285T>G (p.Ile95Met)
2g.31531378A>GCA425567506SRD5A2c.540T>C (p.Ile180=)
c.318T>C (p.Ile106=)
c.285T>C (p.Ile95=)
 gnomAD v4
2g.31531378A>TCA425567507SRD5A2c.540T>A (p.Ile180=)
c.318T>A (p.Ile106=)
c.285T>A (p.Ile95=)
 gnomAD v4
2g.31531379A>CCA346598173SRD5A2c.539T>G (p.Ile180Ser)
c.317T>G (p.Ile106Ser)
c.284T>G (p.Ile95Ser)
2g.31531379A>GCA346598174SRD5A2c.539T>C (p.Ile180Thr)
c.317T>C (p.Ile106Thr)
c.284T>C (p.Ile95Thr)
 gnomAD v4
2g.31531379A>TCA346598175SRD5A2c.539T>A (p.Ile180Asn)
c.317T>A (p.Ile106Asn)
c.284T>A (p.Ile95Asn)
2g.31531380T>ACA346598177SRD5A2c.538A>T (p.Ile180Phe)
c.316A>T (p.Ile106Phe)
c.283A>T (p.Ile95Phe)
2g.31531380T>CCA1599914SRD5A2c.538A>G (p.Ile180Val)
c.316A>G (p.Ile106Val)
c.283A>G (p.Ile95Val)
 dbSNP ExAC gnomAD v2
2g.31531380T>GCA346598176SRD5A2c.538A>C (p.Ile180Leu)
c.316A>C (p.Ile106Leu)
c.283A>C (p.Ile95Leu)
2g.31531380T=CA1242198306SRD5A2c.538A= (p.Ile180=)
c.316A= (p.Ile106=)
c.283A= (p.Ile95=)
2g.31531381C>ACA1599915SRD5A2c.537G>T (p.Arg179Ser)
c.315G>T (p.Arg105Ser)
c.282G>T (p.Arg94Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531381C=CA1242198307SRD5A2c.537G= (p.Arg179=)
c.315G= (p.Arg105=)
c.282G= (p.Arg94=)
2g.31531381C>GCA346598178SRD5A2c.537G>C (p.Arg179Ser)
c.315G>C (p.Arg105Ser)
c.282G>C (p.Arg94Ser)
2g.31531381C>TCA425567508SRD5A2c.537G>A (p.Arg179=)
c.315G>A (p.Arg105=)
c.282G>A (p.Arg94=)
 ClinVar dbSNP gnomAD v4
2g.31531382C>ACA45136526SRD5A2c.536G>T (p.Arg179Met)
c.314G>T (p.Arg105Met)
c.281G>T (p.Arg94Met)
 dbSNP gnomAD v4
2g.31531382C=CA1242198308SRD5A2c.536G= (p.Arg179=)
c.314G= (p.Arg105=)
c.281G= (p.Arg94=)
2g.31531382C>GCA346598179SRD5A2c.536G>C (p.Arg179Thr)
c.314G>C (p.Arg105Thr)
c.281G>C (p.Arg94Thr)
2g.31531382C>TCA346598180SRD5A2c.536G>A (p.Arg179Lys)
c.314G>A (p.Arg105Lys)
c.281G>A (p.Arg94Lys)
2g.31531383T>ACA346598181SRD5A2c.535A>T (p.Arg179Trp)
c.313A>T (p.Arg105Trp)
c.280A>T (p.Arg94Trp)
2g.31531383T>CCA346598182SRD5A2c.535A>G (p.Arg179Gly)
c.313A>G (p.Arg105Gly)
c.280A>G (p.Arg94Gly)
 gnomAD v4
2g.31531383T>GCA425567509SRD5A2c.535A>C (p.Arg179=)
c.313A>C (p.Arg105=)
c.280A>C (p.Arg94=)
 ClinVar dbSNP gnomAD v4
2g.31531383T=CA1242198309SRD5A2c.535A= (p.Arg179=)
c.313A= (p.Arg105=)
c.280A= (p.Arg94=)
2g.31531384delCA2586969028SRD5A2c.534del (p.Tyr178Ter)
c.312del (p.Tyr104Ter)
c.279del (p.Tyr93Ter)
2g.31531384G>ACA425567510SRD5A2c.534C>T (p.Tyr178=)
c.312C>T (p.Tyr104=)
c.279C>T (p.Tyr93=)
 dbSNP gnomAD v2 gnomAD v4
2g.31531384G>CCA346598183SRD5A2c.534C>G (p.Tyr178Ter)
c.312C>G (p.Tyr104Ter)
c.279C>G (p.Tyr93Ter)
2g.31531384G=CA1242198310SRD5A2c.534C= (p.Tyr178=)
c.312C= (p.Tyr104=)
c.279C= (p.Tyr93=)
2g.31531384G>TCA346598184SRD5A2c.534C>A (p.Tyr178Ter)
c.312C>A (p.Tyr104Ter)
c.279C>A (p.Tyr93Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531385T>ACA346598187SRD5A2c.533A>T (p.Tyr178Phe)
c.311A>T (p.Tyr104Phe)
c.278A>T (p.Tyr93Phe)
2g.31531385T>CCA346598185SRD5A2c.533A>G (p.Tyr178Cys)
c.311A>G (p.Tyr104Cys)
c.278A>G (p.Tyr93Cys)
 gnomAD v4
2g.31531385T>GCA346598186SRD5A2c.533A>C (p.Tyr178Ser)
c.311A>C (p.Tyr104Ser)
c.278A>C (p.Tyr93Ser)
2g.31531386A>CCA346598188SRD5A2c.532T>G (p.Tyr178Asp)
c.310T>G (p.Tyr104Asp)
c.277T>G (p.Tyr93Asp)
2g.31531386A>GCA346598189SRD5A2c.532T>C (p.Tyr178His)
c.310T>C (p.Tyr104His)
c.277T>C (p.Tyr93His)
2g.31531386A>TCA346598190SRD5A2c.532T>A (p.Tyr178Asn)
c.310T>A (p.Tyr104Asn)
c.277T>A (p.Tyr93Asn)
 gnomAD v4
2g.31531387G>ACA425567511SRD5A2c.531C>T (p.Ser177=)
c.309C>T (p.Ser103=)
c.276C>T (p.Ser92=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531387G>CCA346598191SRD5A2c.531C>G (p.Ser177Arg)
c.309C>G (p.Ser103Arg)
c.276C>G (p.Ser92Arg)
2g.31531387G=CA1242198311SRD5A2c.531C= (p.Ser177=)
c.309C= (p.Ser103=)
c.276C= (p.Ser92=)
2g.31531387G>TCA346598192SRD5A2c.531C>A (p.Ser177Arg)
c.309C>A (p.Ser103Arg)
c.276C>A (p.Ser92Arg)
 gnomAD v4
2g.31531388C>ACA346598193SRD5A2c.530G>T (p.Ser177Ile)
c.308G>T (p.Ser103Ile)
c.275G>T (p.Ser92Ile)
 gnomAD v4
2g.31531388C=CA1242198312SRD5A2c.530G= (p.Ser177=)
c.308G= (p.Ser103=)
c.275G= (p.Ser92=)
2g.31531388C>GCA346598195SRD5A2c.530G>C (p.Ser177Thr)
c.308G>C (p.Ser103Thr)
c.275G>C (p.Ser92Thr)
2g.31531388C>TCA346598194SRD5A2c.530G>A (p.Ser177Asn)
c.308G>A (p.Ser103Asn)
c.275G>A (p.Ser92Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.31531389T>ACA346598196SRD5A2c.529A>T (p.Ser177Cys)
c.307A>T (p.Ser103Cys)
c.274A>T (p.Ser92Cys)
2g.31531389T>CCA346598197SRD5A2c.529A>G (p.Ser177Gly)
c.307A>G (p.Ser103Gly)
c.274A>G (p.Ser92Gly)
 gnomAD v4
2g.31531389T>GCA346598198SRD5A2c.529A>C (p.Ser177Arg)
c.307A>C (p.Ser103Arg)
c.274A>C (p.Ser92Arg)
2g.31531390G>ACA425567521SRD5A2c.528C>T (p.Ile176=)
c.306C>T (p.Ile102=)
c.273C>T (p.Ile91=)
2g.31531390G>CCA346598199SRD5A2c.528C>G (p.Ile176Met)
c.306C>G (p.Ile102Met)
c.273C>G (p.Ile91Met)
2g.31531390G>TCA425567523SRD5A2c.528C>A (p.Ile176=)
c.306C>A (p.Ile102=)
c.273C>A (p.Ile91=)
 gnomAD v4
2g.31531391A>CCA346598200SRD5A2c.527T>G (p.Ile176Ser)
c.305T>G (p.Ile102Ser)
c.272T>G (p.Ile91Ser)
2g.31531391A>GCA346598201SRD5A2c.527T>C (p.Ile176Thr)
c.305T>C (p.Ile102Thr)
c.272T>C (p.Ile91Thr)
2g.31531391A>TCA346598202SRD5A2c.527T>A (p.Ile176Asn)
c.305T>A (p.Ile102Asn)
c.272T>A (p.Ile91Asn)
2g.31531392T>ACA346598203SRD5A2c.526A>T (p.Ile176Phe)
c.304A>T (p.Ile102Phe)
c.271A>T (p.Ile91Phe)
2g.31531392T>CCA346598204SRD5A2c.526A>G (p.Ile176Val)
c.304A>G (p.Ile102Val)
c.271A>G (p.Ile91Val)
2g.31531392T>GCA346598205SRD5A2c.526A>C (p.Ile176Leu)
c.304A>C (p.Ile102Leu)
c.271A>C (p.Ile91Leu)
2g.31531393T>ACA346598206SRD5A2c.525A>T (p.Glu175Asp)
c.303A>T (p.Glu101Asp)
c.270A>T (p.Glu90Asp)
2g.31531393T>CCA425567530SRD5A2c.525A>G (p.Glu175=)
c.303A>G (p.Glu101=)
c.270A>G (p.Glu90=)
2g.31531393T>GCA346598207SRD5A2c.525A>C (p.Glu175Asp)
c.303A>C (p.Glu101Asp)
c.270A>C (p.Glu90Asp)
2g.31531394T>ACA346598208SRD5A2c.524A>T (p.Glu175Val)
c.302A>T (p.Glu101Val)
c.269A>T (p.Glu90Val)
2g.31531394T>CCA346598210SRD5A2c.524A>G (p.Glu175Gly)
c.302A>G (p.Glu101Gly)
c.269A>G (p.Glu90Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.31531394T>GCA346598209SRD5A2c.524A>C (p.Glu175Ala)
c.302A>C (p.Glu101Ala)
c.269A>C (p.Glu90Ala)
2g.31531394T=CA1242198313SRD5A2c.524A= (p.Glu175=)
c.302A= (p.Glu101=)
c.269A= (p.Glu90=)
2g.31531395C>ACA346598211SRD5A2c.523G>T (p.Glu175Ter)
c.301G>T (p.Glu101Ter)
c.268G>T (p.Glu90Ter)
 gnomAD v4 COSMIC
2g.31531395C>GCA346598212SRD5A2c.523G>C (p.Glu175Gln)
c.301G>C (p.Glu101Gln)
c.268G>C (p.Glu90Gln)
2g.31531395C>TCA346598213SRD5A2c.523G>A (p.Glu175Lys)
c.301G>A (p.Glu101Lys)
c.268G>A (p.Glu90Lys)
2g.31531396T>ACA425567537SRD5A2c.522A>T (p.Gly174=)
c.300A>T (p.Gly100=)
c.267A>T (p.Gly89=)
2g.31531396T>CCA425567538SRD5A2c.522A>G (p.Gly174=)
c.300A>G (p.Gly100=)
c.267A>G (p.Gly89=)
 gnomAD v4
2g.31531396T>GCA425567540SRD5A2c.522A>C (p.Gly174=)
c.300A>C (p.Gly100=)
c.267A>C (p.Gly89=)
2g.31531397C>ACA346598214SRD5A2c.521G>T (p.Gly174Val)
c.299G>T (p.Gly100Val)
c.266G>T (p.Gly89Val)
 gnomAD v4
2g.31531397C>GCA346598215SRD5A2c.521G>C (p.Gly174Ala)
c.299G>C (p.Gly100Ala)
c.266G>C (p.Gly89Ala)
2g.31531397C>TCA346598216SRD5A2c.521G>A (p.Gly174Glu)
c.299G>A (p.Gly100Glu)
c.266G>A (p.Gly89Glu)
2g.31531398C>ACA346598217SRD5A2c.520G>T (p.Gly174Ter)
c.298G>T (p.Gly100Ter)
c.265G>T (p.Gly89Ter)
 gnomAD v4
2g.31531398C=CA1242198314SRD5A2c.520G= (p.Gly174=)
c.298G= (p.Gly100=)
c.265G= (p.Gly89=)
2g.31531398C>GCA346598218SRD5A2c.520G>C (p.Gly174Arg)
c.298G>C (p.Gly100Arg)
c.265G>C (p.Gly89Arg)
2g.31531398C>TCA45136527SRD5A2c.520G>A (p.Gly174Arg)
c.298G>A (p.Gly100Arg)
c.265G>A (p.Gly89Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.31531399A=CA1242198315SRD5A2c.519T= (p.Pro173=)
c.297T= (p.Pro99=)
c.264T= (p.Pro88=)
2g.31531399A>CCA425567548SRD5A2c.519T>G (p.Pro173=)
c.297T>G (p.Pro99=)
c.264T>G (p.Pro88=)
2g.31531399A>GCA425567551SRD5A2c.519T>C (p.Pro173=)
c.297T>C (p.Pro99=)
c.264T>C (p.Pro88=)
 gnomAD v4
2g.31531399A>TCA425567550SRD5A2c.519T>A (p.Pro173=)
c.297T>A (p.Pro99=)
c.264T>A (p.Pro88=)
 dbSNP gnomAD v2
2g.31531400G>ACA346598219SRD5A2c.518C>T (p.Pro173Leu)
c.296C>T (p.Pro99Leu)
c.263C>T (p.Pro88Leu)
 dbSNP gnomAD v4
2g.31531400G>CCA346598220SRD5A2c.518C>G (p.Pro173Arg)
c.296C>G (p.Pro99Arg)
c.263C>G (p.Pro88Arg)
 gnomAD v4
2g.31531400G=CA1242198316SRD5A2c.518C= (p.Pro173=)
c.296C= (p.Pro99=)
c.263C= (p.Pro88=)
2g.31531400G>TCA346598221SRD5A2c.518C>A (p.Pro173His)
c.296C>A (p.Pro99His)
c.263C>A (p.Pro88His)
2g.31531401G>ACA1599916SRD5A2c.517C>T (p.Pro173Ser)
c.295C>T (p.Pro99Ser)
c.262C>T (p.Pro88Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.31531401G>CCA346598223SRD5A2c.517C>G (p.Pro173Ala)
c.295C>G (p.Pro99Ala)
c.262C>G (p.Pro88Ala)
 gnomAD v4
2g.31531401G=CA1242198317SRD5A2c.517C= (p.Pro173=)
c.295C= (p.Pro99=)
c.262C= (p.Pro88=)
2g.31531401G>TCA346598222SRD5A2c.517C>A (p.Pro173Thr)
c.295C>A (p.Pro99Thr)
c.262C>A (p.Pro88Thr)
 gnomAD v4
2g.31531402C>ACA346598224SRD5A2c.516G>T (p.Lys172Asn)
c.294G>T (p.Lys98Asn)
c.261G>T (p.Lys87Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.31531402C=CA1242198318SRD5A2c.516G= (p.Lys172=)
c.294G= (p.Lys98=)
c.261G= (p.Lys87=)
2g.31531402C>GCA346598225SRD5A2c.516G>C (p.Lys172Asn)
c.294G>C (p.Lys98Asn)
c.261G>C (p.Lys87Asn)
2g.31531402C>TCA425567559SRD5A2c.516G>A (p.Lys172=)
c.294G>A (p.Lys98=)
c.261G>A (p.Lys87=)
2g.31531403T>ACA346598226SRD5A2c.515A>T (p.Lys172Met)
c.293A>T (p.Lys98Met)
c.260A>T (p.Lys87Met)
2g.31531403T>CCA346598227SRD5A2c.515A>G (p.Lys172Arg)
c.293A>G (p.Lys98Arg)
c.260A>G (p.Lys87Arg)
 gnomAD v4
2g.31531403T>GCA346598228SRD5A2c.515A>C (p.Lys172Thr)
c.293A>C (p.Lys98Thr)
c.260A>C (p.Lys87Thr)
2g.31531404T>ACA346598229SRD5A2c.514A>T (p.Lys172Ter)
c.292A>T (p.Lys98Ter)
c.259A>T (p.Lys87Ter)
 dbSNP gnomAD v4
2g.31531404T>CCA346598230SRD5A2c.514A>G (p.Lys172Glu)
c.292A>G (p.Lys98Glu)
c.259A>G (p.Lys87Glu)
 gnomAD v4
2g.31531404T>GCA346598231SRD5A2c.514A>C (p.Lys172Gln)
c.292A>C (p.Lys98Gln)
c.259A>C (p.Lys87Gln)
2g.31531404T=CA1242198319SRD5A2c.514A= (p.Lys172=)
c.292A= (p.Lys98=)
c.259A= (p.Lys87=)
2g.31531405C>ACA346598232SRD5A2c.513G>T (p.Arg171Ser)
c.291G>T (p.Arg97Ser)
c.258G>T (p.Arg86Ser)
 dbSNP gnomAD v4
2g.31531405C=CA1242198320SRD5A2c.513G= (p.Arg171=)
c.291G= (p.Arg97=)
c.258G= (p.Arg86=)
2g.31531405C>GCA1599917SRD5A2c.513G>C (p.Arg171Ser)
c.291G>C (p.Arg97Ser)
c.258G>C (p.Arg86Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31531405C>TCA425567563SRD5A2c.513G>A (p.Arg171=)
c.291G>A (p.Arg97=)
c.258G>A (p.Arg86=)
 gnomAD v4
2g.31531406C>ACA346598233SRD5A2c.512G>T (p.Arg171Met)
c.290G>T (p.Arg97Met)
c.257G>T (p.Arg86Met)
 gnomAD v4
2g.31531406C>GCA346598234SRD5A2c.512G>C (p.Arg171Thr)
c.290G>C (p.Arg97Thr)
c.257G>C (p.Arg86Thr)
2g.31531406C>TCA346598235SRD5A2c.512G>A (p.Arg171Lys)
c.290G>A (p.Arg97Lys)
c.257G>A (p.Arg86Lys)
2g.31531407T>ACA346598236SRD5A2c.511A>T (p.Arg171Trp)
c.289A>T (p.Arg97Trp)
c.256A>T (p.Arg86Trp)
2g.31531407T>CCA346598237SRD5A2c.511A>G (p.Arg171Gly)
c.289A>G (p.Arg97Gly)
c.256A>G (p.Arg86Gly)
 gnomAD v4
2g.31531407T>GCA425567564SRD5A2c.511A>C (p.Arg171=)
c.289A>C (p.Arg97=)
c.256A>C (p.Arg86=)

Number of alleles fetched