Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18596562A>GCA657092619CRLF1c.1024+60T>C (n.1024+60T>C)
c.447+102T>C
c.958+60T>C (n.958+60T>C)
19g.18596563G>ACA306260209CRLF1c.1024+59C>T (n.1024+59C>T)
c.447+101C>T
c.958+59C>T (n.958+59C>T)
 dbSNP gnomAD v4
19g.18596563G=CA2326432184CRLF1c.1024+59C= (n.1024+59C=)
c.447+101C=
c.958+59C= (n.958+59C=)
19g.18596564A>GCA2583603037CRLF1c.1024+58T>C (n.1024+58T>C)
c.447+100T>C
c.958+58T>C (n.958+58T>C)
 gnomAD v4
19g.18596565G>ACA306260210CRLF1c.1024+57C>T (n.1024+57C>T)
c.447+99C>T
c.958+57C>T (n.958+57C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596565G=CA2326432185CRLF1c.1024+57C= (n.1024+57C=)
c.447+99C=
c.958+57C= (n.958+57C=)
19g.18596565G>TCA2583603038CRLF1c.1024+57C>A (n.1024+57C>A)
c.447+99C>A
c.958+57C>A (n.958+57C>A)
 gnomAD v4
19g.18596566G>CCA2583603039CRLF1c.1024+56C>G (n.1024+56C>G)
c.447+98C>G
c.958+56C>G (n.958+56C>G)
 gnomAD v4
19g.18596566G=CA2326432186CRLF1c.1024+56C= (n.1024+56C=)
c.447+98C=
c.958+56C= (n.958+56C=)
19g.18596566G>TCA632364897CRLF1c.1024+56C>A (n.1024+56C>A)
c.447+98C>A
c.958+56C>A (n.958+56C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596567C>TCA2576724680CRLF1c.1024+55G>A (n.1024+55G>A)
c.447+97G>A
c.958+55G>A (n.958+55G>A)
19g.18596569C>ACA2583603040CRLF1c.1024+53G>T (n.1024+53G>T)
c.447+95G>T
c.958+53G>T (n.958+53G>T)
 gnomAD v4
19g.18596569C=CA2326432187CRLF1c.1024+53G= (n.1024+53G=)
c.447+95G=
c.958+53G= (n.958+53G=)
19g.18596569C>GCA2326432188CRLF1c.1024+53G>C (n.1024+53G>C)
c.447+95G>C
c.958+53G>C (n.958+53G>C)
 dbSNP gnomAD v4
19g.18596569C>TCA2576724681CRLF1c.1024+53G>A (n.1024+53G>A)
c.447+95G>A
c.958+53G>A (n.958+53G>A)
 gnomAD v4
19g.18596570T>CCA2813827675CRLF1c.1024+52A>G (n.1024+52A>G)
c.447+94A>G
c.958+52A>G (n.958+52A>G)
19g.18596570T>GCA2583603041CRLF1c.1024+52A>C (n.1024+52A>C)
c.447+94A>C
c.958+52A>C (n.958+52A>C)
 gnomAD v4
19g.18596571A=CA2326432189CRLF1c.1024+51T= (n.1024+51T=)
c.447+93T=
c.958+51T= (n.958+51T=)
19g.18596571A>GCA632364898CRLF1c.1024+51T>C (n.1024+51T>C)
c.447+93T>C
c.958+51T>C (n.958+51T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596571A>TCA632364899CRLF1c.1024+51T>A (n.1024+51T>A)
c.447+93T>A
c.958+51T>A (n.958+51T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596572G>TCA2583603042CRLF1c.1024+50C>A (n.1024+50C>A)
c.447+92C>A
c.958+50C>A (n.958+50C>A)
 gnomAD v4
19g.18596573C>GCA2583603043CRLF1c.1024+49G>C (n.1024+49G>C)
c.447+91G>C
c.958+49G>C (n.958+49G>C)
 gnomAD v4
19g.18596580C>ACA657092644CRLF1c.1024+42G>T (n.1024+42G>T)
c.447+84G>T
c.958+42G>T (n.958+42G>T)
 COSMIC
19g.18596580C=CA2326432190CRLF1c.1024+42G= (n.1024+42G=)
c.447+84G=
c.958+42G= (n.958+42G=)
19g.18596580C>GCA2581374262CRLF1c.1024+42G>C (n.1024+42G>C)
c.447+84G>C
c.958+42G>C (n.958+42G>C)
19g.18596580C>TCA9314017CRLF1c.1024+42G>A (n.1024+42G>A)
c.447+84G>A
c.958+42G>A (n.958+42G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596581G>ACA9314018CRLF1c.1024+41C>T (n.1024+41C>T)
c.447+83C>T
c.958+41C>T (n.958+41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596581G>CCA2583603044CRLF1c.1024+41C>G (n.1024+41C>G)
c.447+83C>G
c.958+41C>G (n.958+41C>G)
 gnomAD v4
19g.18596581G=CA2326432191CRLF1c.1024+41C= (n.1024+41C=)
c.447+83C=
c.958+41C= (n.958+41C=)
19g.18596581G>TCA9314019CRLF1c.1024+41C>A (n.1024+41C>A)
c.447+83C>A
c.958+41C>A (n.958+41C>A)
 dbSNP ExAC gnomAD v4
19g.18596582G>ACA2326432193CRLF1c.1024+40C>T (n.1024+40C>T)
c.447+82C>T
c.958+40C>T (n.958+40C>T)
 dbSNP gnomAD v4
19g.18596582G=CA2326432192CRLF1c.1024+40C= (n.1024+40C=)
c.447+82C=
c.958+40C= (n.958+40C=)
19g.18596582G>TCA783933156CRLF1c.1024+40C>A (n.1024+40C>A)
c.447+82C>A
c.958+40C>A (n.958+40C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18596585T>CCA783933165CRLF1c.1024+37A>G (n.1024+37A>G)
c.447+79A>G
c.958+37A>G (n.958+37A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.18596585T=CA2326432194CRLF1c.1024+37A= (n.1024+37A=)
c.447+79A=
c.958+37A= (n.958+37A=)
19g.18596586G>CCA783933167CRLF1c.1024+36C>G (n.1024+36C>G)
c.447+78C>G
c.958+36C>G (n.958+36C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.18596586G=CA2326432195CRLF1c.1024+36C= (n.1024+36C=)
c.447+78C=
c.958+36C= (n.958+36C=)
19g.18596587G>ACA9314020CRLF1c.1024+35C>T (n.1024+35C>T)
c.447+77C>T
c.958+35C>T (n.958+35C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596587G=CA2326432196CRLF1c.1024+35C= (n.1024+35C=)
c.447+77C=
c.958+35C= (n.958+35C=)
19g.18596587G>TCA2583603045CRLF1c.1024+35C>A (n.1024+35C>A)
c.447+77C>A
c.958+35C>A (n.958+35C>A)
 gnomAD v4
19g.18596588C=CA2326432197CRLF1c.1024+34G= (n.1024+34G=)
c.447+76G=
c.958+34G= (n.958+34G=)
19g.18596588C>TCA9314021CRLF1c.1024+34G>A (n.1024+34G>A)
c.447+76G>A
c.958+34G>A (n.958+34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596589C>ACA9314022CRLF1c.1024+33G>T (n.1024+33G>T)
c.447+75G>T
c.958+33G>T (n.958+33G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596589C=CA2326432198CRLF1c.1024+33G= (n.1024+33G=)
c.447+75G=
c.958+33G= (n.958+33G=)
19g.18596589C>GCA9314024CRLF1c.1024+33G>C (n.1024+33G>C)
c.447+75G>C
c.958+33G>C (n.958+33G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596589C>TCA9314023CRLF1c.1024+33G>A (n.1024+33G>A)
c.447+75G>A
c.958+33G>A (n.958+33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596590G>ACA9314025CRLF1c.1024+32C>T (n.1024+32C>T)
c.447+74C>T
c.958+32C>T (n.958+32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596590G=CA2326432199CRLF1c.1024+32C= (n.1024+32C=)
c.447+74C=
c.958+32C= (n.958+32C=)
19g.18596592T>CCA2583603046CRLF1c.1024+30A>G (n.1024+30A>G)
c.447+72A>G
c.958+30A>G (n.958+30A>G)
 gnomAD v4
19g.18596593G>TCA2583603047CRLF1c.1024+29C>A (n.1024+29C>A)
c.447+71C>A
c.958+29C>A (n.958+29C>A)
 gnomAD v4
19g.18596594G>ACA2326432201CRLF1c.1024+28C>T (n.1024+28C>T)
c.447+70C>T
c.958+28C>T (n.958+28C>T)
 dbSNP
19g.18596594G=CA2326432200CRLF1c.1024+28C= (n.1024+28C=)
c.447+70C=
c.958+28C= (n.958+28C=)
19g.18596595A=CA2326432202CRLF1c.1024+27T= (n.1024+27T=)
c.447+69T=
c.958+27T= (n.958+27T=)
19g.18596595A>CCA9314026CRLF1c.1024+27T>G (n.1024+27T>G)
c.447+69T>G
c.958+27T>G (n.958+27T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596596T>CCA994214026CRLF1c.1024+26A>G (n.1024+26A>G)
c.447+68A>G
c.958+26A>G (n.958+26A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.18596596T=CA2326432203CRLF1c.1024+26A= (n.1024+26A=)
c.447+68A=
c.958+26A= (n.958+26A=)
19g.18596599C>TCA2583603048CRLF1c.1024+23G>A (n.1024+23G>A)
c.447+65G>A
c.958+23G>A (n.958+23G>A)
 gnomAD v4
19g.18596600C=CA2326432204CRLF1c.1024+22G= (n.1024+22G=)
c.447+64G=
c.958+22G= (n.958+22G=)
19g.18596600C>GCA2326432205CRLF1c.1024+22G>C (n.1024+22G>C)
c.447+64G>C
c.958+22G>C (n.958+22G>C)
 dbSNP gnomAD v4
19g.18596600C>TCA9314027CRLF1c.1024+22G>A (n.1024+22G>A)
c.447+64G>A
c.958+22G>A (n.958+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596601C>TCA2583603049CRLF1c.1024+21G>A (n.1024+21G>A)
c.447+63G>A
c.958+21G>A (n.958+21G>A)
 gnomAD v4
19g.18596602A>GCA2583603050CRLF1c.1024+20T>C (n.1024+20T>C)
c.447+62T>C
c.958+20T>C (n.958+20T>C)
 gnomAD v4
19g.18596604C>ACA632364901CRLF1c.1024+18G>T (n.1024+18G>T)
c.447+60G>T
c.958+18G>T (n.958+18G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18596604C=CA2326432206CRLF1c.1024+18G= (n.1024+18G=)
c.447+60G=
c.958+18G= (n.958+18G=)
19g.18596604C>TCA632364900CRLF1c.1024+18G>A (n.1024+18G>A)
c.447+60G>A
c.958+18G>A (n.958+18G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18596605C=CA2326432207CRLF1c.1024+17G= (n.1024+17G=)
c.447+59G=
c.958+17G= (n.958+17G=)
19g.18596605C>TCA306260242CRLF1c.1024+17G>A (n.1024+17G>A)
c.447+59G>A
c.958+17G>A (n.958+17G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18596606C=CA2326432208CRLF1c.1024+16G= (n.1024+16G=)
c.447+58G=
c.958+16G= (n.958+16G=)
19g.18596606C>TCA2326432209CRLF1c.1024+16G>A (n.1024+16G>A)
c.447+58G>A
c.958+16G>A (n.958+16G>A)
 dbSNP gnomAD v4
19g.18596608A=CA2326432210CRLF1c.1024+14T= (n.1024+14T=)
c.447+56T=
c.958+14T= (n.958+14T=)
19g.18596608A>TCA632364902CRLF1c.1024+14T>A (n.1024+14T>A)
c.447+56T>A
c.958+14T>A (n.958+14T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596609G>CCA2583603051CRLF1c.1024+13C>G (n.1024+13C>G)
c.447+55C>G
c.958+13C>G (n.958+13C>G)
 gnomAD v4
19g.18596610G>ACA9314028CRLF1c.1024+12C>T (n.1024+12C>T)
c.447+54C>T
c.958+12C>T (n.958+12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596610G=CA2326432211CRLF1c.1024+12C= (n.1024+12C=)
c.447+54C=
c.958+12C= (n.958+12C=)
19g.18596611A=CA2326432212CRLF1c.1024+11T= (n.1024+11T=)
c.447+53T=
c.958+11T= (n.958+11T=)
19g.18596611A>GCA9314029CRLF1c.1024+11T>C (n.1024+11T>C)
c.447+53T>C
c.958+11T>C (n.958+11T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596612G>ACA306260252CRLF1c.1024+10C>T (n.1024+10C>T)
c.447+52C>T
c.958+10C>T (n.958+10C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596612G=CA2326432213CRLF1c.1024+10C= (n.1024+10C=)
c.447+52C=
c.958+10C= (n.958+10C=)
19g.18596613G>ACA306260255CRLF1c.1024+9C>T (n.1024+9C>T)
c.447+51C>T
c.958+9C>T (n.958+9C>T)
 dbSNP gnomAD v4
19g.18596613G=CA2326432214CRLF1c.1024+9C= (n.1024+9C=)
c.447+51C=
c.958+9C= (n.958+9C=)
19g.18596613G>TCA9314030CRLF1c.1024+9C>A (n.1024+9C>A)
c.447+51C>A
c.958+9C>A (n.958+9C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596614G>ACA2583603052CRLF1c.1024+8C>T (n.1024+8C>T)
c.447+50C>T
c.958+8C>T (n.958+8C>T)
 gnomAD v4
19g.18596614_18596624delinsGTGCTCACCACCA2326432215CRLF1c.1022_1024+8delinsGTGGTGAGCAC
c.447+40_447+50delinsGTGGTGAGCAC
c.956_958+8delinsGTGGTGAGCAC
19g.18596618_18596627delCA2326432216CRLF1c.1022_1024+7del
c.447+40_447+49del
c.956_958+7del
 dbSNP gnomAD v4
19g.18596616G>ACA9314031CRLF1c.1024+6C>T (n.1024+6C>T)
c.447+48C>T
c.958+6C>T (n.958+6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596616G=CA2326432217CRLF1c.1024+6C= (n.1024+6C=)
c.447+48C=
c.958+6C= (n.958+6C=)
19g.18596618_18596621dupCA9314032CRLF1c.1024+2_1024+5dup (n.1024+2_1024+5dup)
c.447+44_447+47dup
c.958+2_958+5dup (n.958+2_958+5dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596618T>CCA2576724682CRLF1c.1024+4A>G (n.1024+4A>G)
c.447+46A>G
c.958+4A>G (n.958+4A>G)
 gnomAD v4
19g.18596618_18596630delinsTCACCACTGCGGGCA2326432218CRLF1c.1016_1024+4delinsCCCGCAGTGGTGA
c.447+34_447+46delinsCCCGCAGTGGTGA
c.950_958+4delinsCCCGCAGTGGTGA
19g.18596619_18596630delCA2326432219CRLF1c.1016_1024+3del
c.447+34_447+45del
c.950_958+3del
 dbSNP gnomAD v4
19g.18596620A>CCA404850412CRLF1c.1024+2T>G (n.1024+2T>G)
c.447+44T>G
c.958+2T>G (n.958+2T>G)
19g.18596620A>GCA404850413CRLF1c.1024+2T>C (n.1024+2T>C)
c.447+44T>C
c.958+2T>C (n.958+2T>C)
19g.18596620A>TCA404850414CRLF1c.1024+2T>A (n.1024+2T>A)
c.447+44T>A
c.958+2T>A (n.958+2T>A)
19g.18596620_18596621delinsACCA2326432220CRLF1c.1024+1_1024+2delinsGT (n.1024+1_1024+2delinsGT)
c.447+43_447+44delinsGT
c.958+1_958+2delinsGT (n.958+1_958+2delinsGT)
19g.18596621C>ACA404850415CRLF1c.1024+1G>T (n.1024+1G>T)
c.447+43G>T
c.958+1G>T (n.958+1G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18596621C=CA2326432221CRLF1c.1024+1G= (n.1024+1G=)
c.447+43G=
c.958+1G= (n.958+1G=)
19g.18596621C>GCA404850416CRLF1c.1024+1G>C (n.1024+1G>C)
c.447+43G>C
c.958+1G>C (n.958+1G>C)
19g.18596621C>TCA404850417CRLF1c.1024+1G>A (n.1024+1G>A)
c.447+43G>A
c.958+1G>A (n.958+1G>A)
 gnomAD v4
19g.18596622delCA9314033CRLF1c.1024+1del
c.447+43del
c.958+1del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596622C>ACA404850418CRLF1c.1024G>T (p.Glu342Ter)
c.447+42G>T
c.958G>T (p.Glu320Ter)
19g.18596622C>GCA404850419CRLF1c.1024G>C (p.Glu342Gln)
c.447+42G>C
c.958G>C (p.Glu320Gln)
19g.18596622C>TCA404850420CRLF1c.1024G>A (p.Glu342Lys)
c.447+42G>A
c.958G>A (p.Glu320Lys)
19g.18596623A>CCA404850421CRLF1c.1023T>G (p.Ser341Arg)
c.447+41T>G
c.957T>G (p.Ser319Arg)
19g.18596623A>GCA506044235CRLF1c.1023T>C (p.Ser341=)
c.447+41T>C
c.957T>C (p.Ser319=)
19g.18596623A>TCA404850422CRLF1c.1023T>A (p.Ser341Arg)
c.447+41T>A
c.957T>A (p.Ser319Arg)
19g.18596624C>ACA404850423CRLF1c.1022G>T (p.Ser341Ile)
c.447+40G>T
c.956G>T (p.Ser319Ile)
19g.18596624C>GCA404850424CRLF1c.1022G>C (p.Ser341Thr)
c.447+40G>C
c.956G>C (p.Ser319Thr)
19g.18596624C>TCA404850425CRLF1c.1022G>A (p.Ser341Asn)
c.447+40G>A
c.956G>A (p.Ser319Asn)
 gnomAD v4
19g.18596625T>ACA404850426CRLF1c.1021A>T (p.Ser341Cys)
c.447+39A>T
c.955A>T (p.Ser319Cys)
19g.18596625T>CCA404850427CRLF1c.1021A>G (p.Ser341Gly)
c.447+39A>G
c.955A>G (p.Ser319Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.18596625T>GCA404850428CRLF1c.1021A>C (p.Ser341Arg)
c.447+39A>C
c.955A>C (p.Ser319Arg)
19g.18596625T=CA2326432222CRLF1c.1021A= (p.Ser341=)
c.447+39A=
c.955A= (p.Ser319=)
19g.18596626G>ACA506044238CRLF1c.1020C>T (p.Arg340=)
c.447+38C>T
c.954C>T (p.Arg318=)
 dbSNP gnomAD v3 gnomAD v4
19g.18596626G>CCA306260261CRLF1c.1020C>G (p.Arg340=)
c.447+38C>G
c.954C>G (p.Arg318=)
 dbSNP
19g.18596626G=CA2326432223CRLF1c.1020C= (p.Arg340=)
c.447+38C=
c.954C= (p.Arg318=)
19g.18596626G>TCA506044240CRLF1c.1020C>A (p.Arg340=)
c.447+38C>A
c.954C>A (p.Arg318=)
 ClinVar COSMIC
19g.18596626_18596627delinsGCCA2326432224CRLF1c.1019_1020delinsGC (p.Arg340=)
c.447+37_447+38delinsGC
c.953_954delinsGC (p.Arg318=)
19g.18596627delCA783933229CRLF1c.1019del (p.Arg340ProfsTer?)
c.447+37del
c.953del (p.Arg318ProfsTer?)
 dbSNP
19g.18596627C>ACA404850429CRLF1c.1019G>T (p.Arg340Leu)
c.447+37G>T
c.953G>T (p.Arg318Leu)
19g.18596627C=CA2326432225CRLF1c.1019G= (p.Arg340=)
c.447+37G=
c.953G= (p.Arg318=)
19g.18596627C>GCA404850430CRLF1c.1019G>C (p.Arg340Pro)
c.447+37G>C
c.953G>C (p.Arg318Pro)
 gnomAD v4
19g.18596627C>TCA306260270CRLF1c.1019G>A (p.Arg340His)
c.447+37G>A
c.953G>A (p.Arg318His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596628G>ACA9314034CRLF1c.1018C>T (p.Arg340Cys)
c.447+36C>T
c.952C>T (p.Arg318Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18596628G>CCA306260277CRLF1c.1018C>G (p.Arg340Gly)
c.447+36C>G
c.952C>G (p.Arg318Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18596628G=CA2326432226CRLF1c.1018C= (p.Arg340=)
c.447+36C=
c.952C= (p.Arg318=)
19g.18596628G>TCA404850431CRLF1c.1018C>A (p.Arg340Ser)
c.447+36C>A
c.952C>A (p.Arg318Ser)
19g.18596631delCA2583603053CRLF1c.1018del (p.Arg340AlafsTer?)
c.447+36del
c.952del (p.Arg318AlafsTer?)
 gnomAD v4
19g.18596629G>ACA306260278CRLF1c.1017C>T (p.Pro339=)
c.447+35C>T
c.951C>T (p.Pro317=)
 dbSNP
19g.18596629G>CCA506044241CRLF1c.1017C>G (p.Pro339=)
c.447+35C>G
c.951C>G (p.Pro317=)
19g.18596629G=CA2326432227CRLF1c.1017C= (p.Pro339=)
c.447+35C=
c.951C= (p.Pro317=)
19g.18596629G>TCA506044242CRLF1c.1017C>A (p.Pro339=)
c.447+35C>A
c.951C>A (p.Pro317=)
19g.18596630G>ACA404850434CRLF1c.1016C>T (p.Pro339Leu)
c.447+34C>T
c.950C>T (p.Pro317Leu)
19g.18596630G>CCA404850432CRLF1c.1016C>G (p.Pro339Arg)
c.447+34C>G
c.950C>G (p.Pro317Arg)
19g.18596630G>TCA404850433CRLF1c.1016C>A (p.Pro339His)
c.447+34C>A
c.950C>A (p.Pro317His)
19g.18596631G>ACA404850435CRLF1c.1015C>T (p.Pro339Ser)
c.447+33C>T
c.949C>T (p.Pro317Ser)
 gnomAD v4
19g.18596631G>CCA404850436CRLF1c.1015C>G (p.Pro339Ala)
c.447+33C>G
c.949C>G (p.Pro317Ala)
19g.18596631G>TCA404850437CRLF1c.1015C>A (p.Pro339Thr)
c.447+33C>A
c.949C>A (p.Pro317Thr)
19g.18596632A=CA2326432228CRLF1c.1014T= (p.Thr338=)
c.447+32T=
c.948T= (p.Thr316=)
19g.18596632A>CCA306260279CRLF1c.1014T>G (p.Thr338=)
c.447+32T>G
c.948T>G (p.Thr316=)
 dbSNP gnomAD v2
19g.18596632A>GCA506044243CRLF1c.1014T>C (p.Thr338=)
c.447+32T>C
c.948T>C (p.Thr316=)
19g.18596632A>TCA506044244CRLF1c.1014T>A (p.Thr338=)
c.447+32T>A
c.948T>A (p.Thr316=)
19g.18596633G>ACA404850438CRLF1c.1013C>T (p.Thr338Ile)
c.447+31C>T
c.947C>T (p.Thr316Ile)
19g.18596633G>CCA404850439CRLF1c.1013C>G (p.Thr338Ser)
c.447+31C>G
c.947C>G (p.Thr316Ser)
19g.18596633G>TCA404850440CRLF1c.1013C>A (p.Thr338Asn)
c.447+31C>A
c.947C>A (p.Thr316Asn)
19g.18596634T>ACA404850441CRLF1c.1012A>T (p.Thr338Ser)
c.447+30A>T
c.946A>T (p.Thr316Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.18596634T>CCA404850442CRLF1c.1012A>G (p.Thr338Ala)
c.447+30A>G
c.946A>G (p.Thr316Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.18596634T>GCA404850443CRLF1c.1012A>C (p.Thr338Pro)
c.447+30A>C
c.946A>C (p.Thr316Pro)
19g.18596634T=CA2326432229CRLF1c.1012A= (p.Thr338=)
c.447+30A=
c.946A= (p.Thr316=)
19g.18596635G>ACA9314035CRLF1c.1011C>T (p.Ser337=)
c.447+29C>T
c.945C>T (p.Ser315=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596635G>CCA506044246CRLF1c.1011C>G (p.Ser337=)
c.447+29C>G
c.945C>G (p.Ser315=)
19g.18596635G=CA2326432230CRLF1c.1011C= (p.Ser337=)
c.447+29C=
c.945C= (p.Ser315=)
19g.18596635G>TCA506044245CRLF1c.1011C>A (p.Ser337=)
c.447+29C>A
c.945C>A (p.Ser315=)
19g.18596636G>ACA404850444CRLF1c.1010C>T (p.Ser337Phe)
c.447+28C>T
c.944C>T (p.Ser315Phe)
 dbSNP
19g.18596636G>CCA404850445CRLF1c.1010C>G (p.Ser337Cys)
c.447+28C>G
c.944C>G (p.Ser315Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596636G=CA2326432231CRLF1c.1010C= (p.Ser337=)
c.447+28C=
c.944C= (p.Ser315=)
19g.18596636G>TCA404850446CRLF1c.1010C>A (p.Ser337Tyr)
c.447+28C>A
c.944C>A (p.Ser315Tyr)
19g.18596637A>CCA404850449CRLF1c.1009T>G (p.Ser337Ala)
c.447+27T>G
c.943T>G (p.Ser315Ala)
19g.18596637A>GCA404850447CRLF1c.1009T>C (p.Ser337Pro)
c.447+27T>C
c.943T>C (p.Ser315Pro)
19g.18596637A>TCA404850448CRLF1c.1009T>A (p.Ser337Thr)
c.447+27T>A
c.943T>A (p.Ser315Thr)
19g.18596638G>ACA506044252CRLF1c.1008C>T (p.Ala336=)
c.447+26C>T
c.942C>T (p.Ala314=)
 dbSNP gnomAD v3 gnomAD v4
19g.18596638G>CCA506044249CRLF1c.1008C>G (p.Ala336=)
c.447+26C>G
c.942C>G (p.Ala314=)
19g.18596638G>TCA506044250CRLF1c.1008C>A (p.Ala336=)
c.447+26C>A
c.942C>A (p.Ala314=)
19g.18596639G>ACA404850450CRLF1c.1007C>T (p.Ala336Val)
c.447+25C>T
c.941C>T (p.Ala314Val)
19g.18596639G>CCA404850451CRLF1c.1007C>G (p.Ala336Gly)
c.447+25C>G
c.941C>G (p.Ala314Gly)
19g.18596639G>TCA404850452CRLF1c.1007C>A (p.Ala336Asp)
c.447+25C>A
c.941C>A (p.Ala314Asp)
19g.18596640C>ACA404850453CRLF1c.1006G>T (p.Ala336Ser)
c.447+24G>T
c.940G>T (p.Ala314Ser)
19g.18596640C=CA2326432232CRLF1c.1006G= (p.Ala336=)
c.447+24G=
c.940G= (p.Ala314=)
19g.18596640C>GCA404850454CRLF1c.1006G>C (p.Ala336Pro)
c.447+24G>C
c.940G>C (p.Ala314Pro)
19g.18596640C>TCA9314036CRLF1c.1006G>A (p.Ala336Thr)
c.447+24G>A
c.940G>A (p.Ala314Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596641G>ACA306260287CRLF1c.1005C>T (p.Ala335=)
c.447+23C>T
c.939C>T (p.Ala313=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596641G>CCA506044253CRLF1c.1005C>G (p.Ala335=)
c.447+23C>G
c.939C>G (p.Ala313=)
 dbSNP gnomAD v2 gnomAD v4
19g.18596641G=CA2326432233CRLF1c.1005C= (p.Ala335=)
c.447+23C=
c.939C= (p.Ala313=)
19g.18596641G>TCA306260282CRLF1c.1005C>A (p.Ala335=)
c.447+23C>A
c.939C>A (p.Ala313=)
 ClinVar dbSNP gnomAD v4
19g.18596642G>ACA404850455CRLF1c.1004C>T (p.Ala335Val)
c.447+22C>T
c.938C>T (p.Ala313Val)
19g.18596642G>CCA404850456CRLF1c.1004C>G (p.Ala335Gly)
c.447+22C>G
c.938C>G (p.Ala313Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.18596642G=CA2326432234CRLF1c.1004C= (p.Ala335=)
c.447+22C=
c.938C= (p.Ala313=)
19g.18596642G>TCA404850457CRLF1c.1004C>A (p.Ala335Asp)
c.447+22C>A
c.938C>A (p.Ala313Asp)
19g.18596643C>ACA404850458CRLF1c.1003G>T (p.Ala335Ser)
c.447+21G>T
c.937G>T (p.Ala313Ser)
19g.18596643C=CA2326432235CRLF1c.1003G= (p.Ala335=)
c.447+21G=
c.937G= (p.Ala313=)
19g.18596643C>GCA404850459CRLF1c.1003G>C (p.Ala335Pro)
c.447+21G>C
c.937G>C (p.Ala313Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.18596643C>TCA404850460CRLF1c.1003G>A (p.Ala335Thr)
c.447+21G>A
c.937G>A (p.Ala313Thr)
19g.18596644T>ACA506044255CRLF1c.1002A>T (p.Thr334=)
c.447+20A>T
c.936A>T (p.Thr312=)
19g.18596644T>CCA506044256CRLF1c.1002A>G (p.Thr334=)
c.447+20A>G
c.936A>G (p.Thr312=)
 gnomAD v4
19g.18596644T>GCA506044257CRLF1c.1002A>C (p.Thr334=)
c.447+20A>C
c.936A>C (p.Thr312=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18596644T=CA2326432236CRLF1c.1002A= (p.Thr334=)
c.447+20A=
c.936A= (p.Thr312=)
19g.18596645G>ACA404850461CRLF1c.1001C>T (p.Thr334Ile)
c.447+19C>T
c.935C>T (p.Thr312Ile)
 gnomAD v4
19g.18596645G>CCA404850463CRLF1c.1001C>G (p.Thr334Arg)
c.447+19C>G
c.935C>G (p.Thr312Arg)
 gnomAD v4 COSMIC
19g.18596645G>TCA404850462CRLF1c.1001C>A (p.Thr334Lys)
c.447+19C>A
c.935C>A (p.Thr312Lys)
19g.18596646T>ACA404850464CRLF1c.1000A>T (p.Thr334Ser)
c.447+18A>T
c.934A>T (p.Thr312Ser)
19g.18596646T>CCA404850465CRLF1c.1000A>G (p.Thr334Ala)
c.447+18A>G
c.934A>G (p.Thr312Ala)
19g.18596646T>GCA404850466CRLF1c.1000A>C (p.Thr334Pro)
c.447+18A>C
c.934A>C (p.Thr312Pro)
 gnomAD v4
19g.18596647G>ACA9314037CRLF1c.999C>T (p.Pro333=)
c.447+17C>T
c.933C>T (p.Pro311=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596647G>CCA506044258CRLF1c.999C>G (p.Pro333=)
c.447+17C>G
c.933C>G (p.Pro311=)
19g.18596647G=CA2326432237CRLF1c.999C= (p.Pro333=)
c.447+17C=
c.933C= (p.Pro311=)
19g.18596647G>TCA506044259CRLF1c.999C>A (p.Pro333=)
c.447+17C>A
c.933C>A (p.Pro311=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18596648G>ACA404850467CRLF1c.998C>T (p.Pro333Leu)
c.447+16C>T
c.932C>T (p.Pro311Leu)
19g.18596648G>CCA404850468CRLF1c.998C>G (p.Pro333Arg)
c.447+16C>G
c.932C>G (p.Pro311Arg)
 dbSNP
19g.18596648G=CA2326432238CRLF1c.998C= (p.Pro333=)
c.447+16C=
c.932C= (p.Pro311=)
19g.18596648G>TCA404850469CRLF1c.998C>A (p.Pro333His)
c.447+16C>A
c.932C>A (p.Pro311His)
19g.18596649G>ACA404850472CRLF1c.997C>T (p.Pro333Ser)
c.447+15C>T
c.931C>T (p.Pro311Ser)
 dbSNP
19g.18596649G>CCA404850470CRLF1c.997C>G (p.Pro333Ala)
c.447+15C>G
c.931C>G (p.Pro311Ala)
 gnomAD v4
19g.18596649G=CA2326432239CRLF1c.997C= (p.Pro333=)
c.447+15C=
c.931C= (p.Pro311=)
19g.18596649G>TCA404850471CRLF1c.997C>A (p.Pro333Thr)
c.447+15C>A
c.931C>A (p.Pro311Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.18596650G>ACA506044260CRLF1c.996C>T (p.His332=)
c.447+14C>T
c.930C>T (p.His310=)
 dbSNP gnomAD v2 gnomAD v4
19g.18596650G>CCA404850473CRLF1c.996C>G (p.His332Gln)
c.447+14C>G
c.930C>G (p.His310Gln)
19g.18596650G=CA2326432240CRLF1c.996C= (p.His332=)
c.447+14C=
c.930C= (p.His310=)
19g.18596650G>TCA404850474CRLF1c.996C>A (p.His332Gln)
c.447+14C>A
c.930C>A (p.His310Gln)
19g.18596651T>ACA404850475CRLF1c.995A>T (p.His332Leu)
c.447+13A>T
c.929A>T (p.His310Leu)
19g.18596651T>CCA404850476CRLF1c.995A>G (p.His332Arg)
c.447+13A>G
c.929A>G (p.His310Arg)
19g.18596651T>GCA404850477CRLF1c.995A>C (p.His332Pro)
c.447+13A>C
c.929A>C (p.His310Pro)
 gnomAD v4
19g.18596652G>ACA404850478CRLF1c.994C>T (p.His332Tyr)
c.447+12C>T
c.928C>T (p.His310Tyr)
19g.18596652G>CCA404850480CRLF1c.994C>G (p.His332Asp)
c.447+12C>G
c.928C>G (p.His310Asp)
19g.18596652G>TCA404850479CRLF1c.994C>A (p.His332Asn)
c.447+12C>A
c.928C>A (p.His310Asn)
19g.18596653G>ACA506044263CRLF1c.993C>T (p.Ser331=)
c.447+11C>T
c.927C>T (p.Ser309=)
19g.18596653G>CCA404850481CRLF1c.993C>G (p.Ser331Arg)
c.447+11C>G
c.927C>G (p.Ser309Arg)
 gnomAD v4
19g.18596653G>TCA404850482CRLF1c.993C>A (p.Ser331Arg)
c.447+11C>A
c.927C>A (p.Ser309Arg)
 COSMIC
19g.18596654C>ACA404850483CRLF1c.992G>T (p.Ser331Ile)
c.447+10G>T
c.926G>T (p.Ser309Ile)
19g.18596654C=CA2326432241CRLF1c.992G= (p.Ser331=)
c.447+10G=
c.926G= (p.Ser309=)
19g.18596654C>GCA404850484CRLF1c.992G>C (p.Ser331Thr)
c.447+10G>C
c.926G>C (p.Ser309Thr)
19g.18596654C>TCA404850485CRLF1c.992G>A (p.Ser331Asn)
c.447+10G>A
c.926G>A (p.Ser309Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.18596655T>ACA404850486CRLF1c.991A>T (p.Ser331Cys)
c.447+9A>T
c.925A>T (p.Ser309Cys)
19g.18596655T>CCA404850487CRLF1c.991A>G (p.Ser331Gly)
c.447+9A>G
c.925A>G (p.Ser309Gly)
19g.18596655T>GCA404850488CRLF1c.991A>C (p.Ser331Arg)
c.447+9A>C
c.925A>C (p.Ser309Arg)
19g.18596656C>ACA404850489CRLF1c.990G>T (p.Trp330Cys)
c.447+8G>T
c.924G>T (p.Trp308Cys)
19g.18596656C=CA2326432243CRLF1c.990G= (p.Trp330=)
c.447+8G=
c.924G= (p.Trp308=)
19g.18596656C>GCA404850490CRLF1c.990G>C (p.Trp330Cys)
c.447+8G>C
c.924G>C (p.Trp308Cys)
19g.18596656C>TCA306260292CRLF1c.990G>A (p.Trp330Ter)
c.447+8G>A
c.924G>A (p.Trp308Ter)
 dbSNP gnomAD v4
19g.18596656_18596660delinsCCACTCA2326432242CRLF1c.986_990delinsAGTGG (p.Glu329=)
c.447+4_447+8delinsAGTGG
c.920_924delinsAGTGG (p.Glu307=)
19g.18596657C>ACA404850491CRLF1c.989G>T (p.Trp330Leu)
c.447+7G>T
c.923G>T (p.Trp308Leu)
19g.18596657C>GCA404850492CRLF1c.989G>C (p.Trp330Ser)
c.447+7G>C
c.923G>C (p.Trp308Ser)
19g.18596657C>TCA404850493CRLF1c.989G>A (p.Trp330Ter)
c.447+7G>A
c.923G>A (p.Trp308Ter)
19g.18596662_18596665delCA9314038CRLF1c.986_989del (p.Glu329GlyfsTer?)
c.447+4_447+7del
c.920_923del (p.Glu307GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18596658A>CCA404850494CRLF1c.988T>G (p.Trp330Gly)
c.447+6T>G
c.922T>G (p.Trp308Gly)
19g.18596658A>GCA404850495CRLF1c.988T>C (p.Trp330Arg)
c.447+6T>C
c.922T>C (p.Trp308Arg)
19g.18596658A>TCA404850496CRLF1c.988T>A (p.Trp330Arg)
c.447+6T>A
c.922T>A (p.Trp308Arg)
19g.18596659C>ACA404850497CRLF1c.987G>T (p.Glu329Asp)
c.447+5G>T
c.921G>T (p.Glu307Asp)
19g.18596659C=CA2326432244CRLF1c.987G= (p.Glu329=)
c.447+5G=
c.921G= (p.Glu307=)
19g.18596659C>GCA9314039CRLF1c.987G>C (p.Glu329Asp)
c.447+5G>C
c.921G>C (p.Glu307Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596659C>TCA506116306CRLF1c.987G>A (p.Glu329=)
c.447+5G>A
c.921G>A (p.Glu307=)
 dbSNP gnomAD v2 gnomAD v4
19g.18596660T>ACA404850498CRLF1c.986A>T (p.Glu329Val)
c.447+4A>T
c.920A>T (p.Glu307Val)
19g.18596660T>CCA404850499CRLF1c.986A>G (p.Glu329Gly)
c.447+4A>G
c.920A>G (p.Glu307Gly)
19g.18596660T>GCA9314040CRLF1c.986A>C (p.Glu329Ala)
c.447+4A>C
c.920A>C (p.Glu307Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18596660T=CA2326432245CRLF1c.986A= (p.Glu329=)
c.447+4A=
c.920A= (p.Glu307=)
19g.18596661C>ACA404850500CRLF1c.985G>T (p.Glu329Ter)
c.447+3G>T
c.919G>T (p.Glu307Ter)
19g.18596661C>GCA404850501CRLF1c.985G>C (p.Glu329Gln)
c.447+3G>C
c.919G>C (p.Glu307Gln)
19g.18596661C>TCA404850502CRLF1c.985G>A (p.Glu329Lys)
c.447+3G>A
c.919G>A (p.Glu307Lys)
 gnomAD v4
19g.18596661dupCA915952925CRLF1c.985dup (p.Glu329GlyfsTer14)
c.447+3dup
c.919dup (p.Glu307GlyfsTer14)
 ClinVar dbSNP
19g.18596662A=CA2326432246CRLF1c.984T= (p.Ser328=)
c.447+2T=
c.918T= (p.Ser306=)
19g.18596662A>CCA404850504CRLF1c.984T>G (p.Ser328Arg)
c.447+2T>G
c.918T>G (p.Ser306Arg)
19g.18596662A>GCA506116307CRLF1c.984T>C (p.Ser328=)
c.447+2T>C
c.918T>C (p.Ser306=)
 gnomAD v4
19g.18596662A>TCA404850503CRLF1c.984T>A (p.Ser328Arg)
c.447+2T>A
c.918T>A (p.Ser306Arg)

Number of alleles fetched