Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.110644380_110644496delCA2789481614RBM20c.-75_42del
c.26+940_26+1056del (n.26+940_26+1056del)
10g.110644432_110644453dupCA659845353RBM20c.-23_-2dup (n.-23_-2dup)
c.26+992_26+1013dup (n.26+992_26+1013dup)
 dbSNP gnomAD v4
10g.110644452delCA2589099373RBM20c.-3del (n.-3del)
c.26+1012del (n.26+1012del)
 gnomAD v3 gnomAD v4
10g.110644450C>ACA2610890276RBM20c.-5C>A (n.-5C>A)
c.26+1010C>A (n.26+1010C>A)
 gnomAD v4
10g.110644450C>TCA2610890277RBM20c.-5C>T (n.-5C>T)
c.26+1010C>T (n.26+1010C>T)
 gnomAD v4
10g.110644451C>ACA2610890278RBM20c.-4C>A (n.-4C>A)
c.26+1011C>A (n.26+1011C>A)
 gnomAD v4
10g.110644451C>TCA2610890279RBM20c.-4C>T (n.-4C>T)
c.26+1011C>T (n.26+1011C>T)
 gnomAD v4
10g.110644452C>ACA2610890280RBM20c.-3C>A (n.-3C>A)
c.26+1012C>A (n.26+1012C>A)
 gnomAD v4
10g.110644452C>GCA2610890282RBM20c.-3C>G (n.-3C>G)
c.26+1012C>G (n.26+1012C>G)
 gnomAD v4
10g.110644452C>TCA2610890281RBM20c.-3C>T (n.-3C>T)
c.26+1012C>T (n.26+1012C>T)
 gnomAD v4
10g.110644453G>ACA2610890283RBM20c.-2G>A (n.-2G>A)
c.26+1013G>A (n.26+1013G>A)
 gnomAD v4
10g.110644453G>CCA659845415RBM20c.-2G>C (n.-2G>C)
c.26+1013G>C (n.26+1013G>C)
 dbSNP
10g.110644453G>TCA2580081240RBM20c.-2G>T (n.-2G>T)
c.26+1013G>T (n.26+1013G>T)
 ClinVar dbSNP gnomAD v4
10g.110644454C>ACA2610890284RBM20c.-1C>A (n.-1C>A)
c.26+1014C>A (n.26+1014C>A)
 gnomAD v4
10g.110644454C>TCA5688483RBM20c.-1C>T (n.-1C>T)
c.26+1014C>T (n.26+1014C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110644455A>CCA378527209RBM20c.1A>C (p.Met1Leu)
c.26+1015A>C (n.26+1015A>C)
10g.110644455A>GCA378527211RBM20c.1A>G (p.Met1Val)
c.26+1015A>G (n.26+1015A>G)
 dbSNP gnomAD v4
10g.110644455A>TCA378527213RBM20c.1A>T (p.Met1Leu)
c.26+1015A>T (n.26+1015A>T)
10g.110644456T>ACA378527216RBM20c.2T>A (p.Met1Lys)
c.26+1016T>A (n.26+1016T>A)
10g.110644456T>CCA378527221RBM20c.2T>C (p.Met1Thr)
c.26+1016T>C (n.26+1016T>C)
 dbSNP gnomAD v3 gnomAD v4
10g.110644456T>GCA378527218RBM20c.2T>G (p.Met1Arg)
c.26+1016T>G (n.26+1016T>G)
10g.110644457G>ACA378527223RBM20c.3G>A (p.Met1Ile)
c.26+1017G>A (n.26+1017G>A)
 gnomAD v4
10g.110644457G>CCA378527225RBM20c.3G>C (p.Met1Ile)
c.26+1017G>C (n.26+1017G>C)
10g.110644457G>TCA378527227RBM20c.3G>T (p.Met1Ile)
c.26+1017G>T (n.26+1017G>T)
 gnomAD v4
10g.110644458G>ACA378527229RBM20c.4G>A (p.Val2Met)
c.26+1018G>A (n.26+1018G>A)
 gnomAD v4
10g.110644458G>CCA378527231RBM20c.4G>C (p.Val2Leu)
c.26+1018G>C (n.26+1018G>C)
 gnomAD v4
10g.110644458G>TCA378527233RBM20c.4G>T (p.Val2Leu)
c.26+1018G>T (n.26+1018G>T)
 ClinVar dbSNP gnomAD v4
10g.110644458_110644459insCCA2574675165RBM20c.4_5insC (p.Val2AlafsTer?)
c.26+1018_26+1019insC (n.26+1018_26+1019insC)
10g.110644459T>ACA378527235RBM20c.5T>A (p.Val2Glu)
c.26+1019T>A (n.26+1019T>A)
10g.110644459T>CCA213903184RBM20c.5T>C (p.Val2Ala)
c.26+1019T>C (n.26+1019T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644459T>GCA378527238RBM20c.5T>G (p.Val2Gly)
c.26+1019T>G (n.26+1019T>G)
10g.110644460G>ACA471464146RBM20c.6G>A (p.Val2=)
c.26+1020G>A (n.26+1020G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.110644460G>CCA471464147RBM20c.6G>C (p.Val2=)
c.26+1020G>C (n.26+1020G>C)
10g.110644460G>TCA471464148RBM20c.6G>T (p.Val2=)
c.26+1020G>T (n.26+1020G>T)
 gnomAD v4
10g.110644461C>ACA378527240RBM20c.7C>A (p.Leu3Met)
c.26+1021C>A (n.26+1021C>A)
 gnomAD v4
10g.110644461C>GCA378527241RBM20c.7C>G (p.Leu3Val)
c.26+1021C>G (n.26+1021C>G)
 gnomAD v4
10g.110644461C>TCA16612832RBM20c.7C>T (p.Leu3=)
c.26+1021C>T (n.26+1021C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644462T>ACA378527245RBM20c.8T>A (p.Leu3Gln)
c.26+1022T>A (n.26+1022T>A)
10g.110644462T>CCA378527247RBM20c.8T>C (p.Leu3Pro)
c.26+1022T>C (n.26+1022T>C)
 gnomAD v4
10g.110644462T>GCA378527243RBM20c.8T>G (p.Leu3Arg)
c.26+1022T>G (n.26+1022T>G)
10g.110644463G>ACA471464149RBM20c.9G>A (p.Leu3=)
c.26+1023G>A (n.26+1023G>A)
 dbSNP gnomAD v4
10g.110644463G>CCA471464150RBM20c.9G>C (p.Leu3=)
c.26+1023G>C (n.26+1023G>C)
10g.110644463G>TCA471464151RBM20c.9G>T (p.Leu3=)
c.26+1023G>T (n.26+1023G>T)
 gnomAD v4
10g.110644464G>ACA378527250RBM20c.10G>A (p.Ala4Thr)
c.26+1024G>A (n.26+1024G>A)
 gnomAD v4
10g.110644464G>CCA378527248RBM20c.10G>C (p.Ala4Pro)
c.26+1024G>C (n.26+1024G>C)
10g.110644464G>TCA378527252RBM20c.10G>T (p.Ala4Ser)
c.26+1024G>T (n.26+1024G>T)
 gnomAD v4
10g.110644465C>ACA378527253RBM20c.11C>A (p.Ala4Glu)
c.26+1025C>A (n.26+1025C>A)
 gnomAD v4
10g.110644465C>GCA378527255RBM20c.11C>G (p.Ala4Gly)
c.26+1025C>G (n.26+1025C>G)
10g.110644465C>TCA378527257RBM20c.11C>T (p.Ala4Val)
c.26+1025C>T (n.26+1025C>T)
 gnomAD v4
10g.110644466A>CCA471464152RBM20c.12A>C (p.Ala4=)
c.26+1026A>C (n.26+1026A>C)
10g.110644466A>GCA471464153RBM20c.12A>G (p.Ala4=)
c.26+1026A>G (n.26+1026A>G)
 dbSNP gnomAD v4
10g.110644466A>TCA471464154RBM20c.12A>T (p.Ala4=)
c.26+1026A>T (n.26+1026A>T)
10g.110644467G>ACA378527259RBM20c.13G>A (p.Ala5Thr)
c.26+1027G>A (n.26+1027G>A)
 gnomAD v4
10g.110644467G>CCA378527260RBM20c.13G>C (p.Ala5Pro)
c.26+1027G>C (n.26+1027G>C)
10g.110644467G>TCA378527262RBM20c.13G>T (p.Ala5Ser)
c.26+1027G>T (n.26+1027G>T)
 gnomAD v4
10g.110644468C>ACA378527264RBM20c.14C>A (p.Ala5Glu)
c.26+1028C>A (n.26+1028C>A)
 gnomAD v4
10g.110644468C>GCA378527266RBM20c.14C>G (p.Ala5Gly)
c.26+1028C>G (n.26+1028C>G)
10g.110644468C>TCA378527267RBM20c.14C>T (p.Ala5Val)
c.26+1028C>T (n.26+1028C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644469A>CCA471464155RBM20c.15A>C (p.Ala5=)
c.26+1029A>C (n.26+1029A>C)
10g.110644469A>GCA471464156RBM20c.15A>G (p.Ala5=)
c.26+1029A>G (n.26+1029A>G)
10g.110644469A>TCA471464157RBM20c.15A>T (p.Ala5=)
c.26+1029A>T (n.26+1029A>T)
 ClinVar dbSNP gnomAD v4
10g.110644470delCA2574675166RBM20c.16del (p.Ala6ProfsTer2)
c.26+1030del (n.26+1030del)
10g.110644470G>ACA5688484RBM20c.16G>A (p.Ala6Thr)
c.26+1030G>A (n.26+1030G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110644470G>CCA378527270RBM20c.16G>C (p.Ala6Pro)
c.26+1030G>C (n.26+1030G>C)
10g.110644470G>TCA378527272RBM20c.16G>T (p.Ala6Ser)
c.26+1030G>T (n.26+1030G>T)
 gnomAD v4
10g.110644471C>ACA378527277RBM20c.17C>A (p.Ala6Asp)
c.26+1031C>A (n.26+1031C>A)
 gnomAD v4
10g.110644471C>GCA378527276RBM20c.17C>G (p.Ala6Gly)
c.26+1031C>G (n.26+1031C>G)
10g.110644471C>TCA378527274RBM20c.17C>T (p.Ala6Val)
c.26+1031C>T (n.26+1031C>T)
 gnomAD v4
10g.110644472C>ACA471464158RBM20c.18C>A (p.Ala6=)
c.26+1032C>A (n.26+1032C>A)
 gnomAD v4
10g.110644472C>GCA471464159RBM20c.18C>G (p.Ala6=)
c.26+1032C>G (n.26+1032C>G)
10g.110644472C>TCA471464160RBM20c.18C>T (p.Ala6=)
c.26+1032C>T (n.26+1032C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.110644473A>CCA378527278RBM20c.19A>C (p.Met7Leu)
c.26+1033A>C (n.26+1033A>C)
10g.110644473A>GCA378527280RBM20c.19A>G (p.Met7Val)
c.26+1033A>G (n.26+1033A>G)
 ClinVar dbSNP gnomAD v4
10g.110644473A>TCA378527283RBM20c.19A>T (p.Met7Leu)
c.26+1033A>T (n.26+1033A>T)
 ClinVar dbSNP gnomAD v4
10g.110644474T>ACA378527285RBM20c.20T>A (p.Met7Lys)
c.26+1034T>A (n.26+1034T>A)
10g.110644474T>CCA378527287RBM20c.20T>C (p.Met7Thr)
c.26+1034T>C (n.26+1034T>C)
 ClinVar gnomAD v4
10g.110644474T>GCA213903185RBM20c.20T>G (p.Met7Arg)
c.26+1034T>G (n.26+1034T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644475G>ACA378527289RBM20c.21G>A (p.Met7Ile)
c.26+1035G>A (n.26+1035G>A)
 gnomAD v4
10g.110644475G>CCA378527290RBM20c.21G>C (p.Met7Ile)
c.26+1035G>C (n.26+1035G>C)
10g.110644475G>TCA378527292RBM20c.21G>T (p.Met7Ile)
c.26+1035G>T (n.26+1035G>T)
 gnomAD v4
10g.110644476A>CCA378527294RBM20c.22A>C (p.Ser8Arg)
c.26+1036A>C (n.26+1036A>C)
10g.110644476A>GCA378527296RBM20c.22A>G (p.Ser8Gly)
c.26+1036A>G (n.26+1036A>G)
 gnomAD v4
10g.110644476A>TCA378527298RBM20c.22A>T (p.Ser8Cys)
c.26+1036A>T (n.26+1036A>T)
10g.110644477G>ACA378527304RBM20c.23G>A (p.Ser8Asn)
c.26+1037G>A (n.26+1037G>A)
10g.110644477G>CCA378527302RBM20c.23G>C (p.Ser8Thr)
c.26+1037G>C (n.26+1037G>C)
10g.110644477G>TCA378527300RBM20c.23G>T (p.Ser8Ile)
c.26+1037G>T (n.26+1037G>T)
 gnomAD v4
10g.110644478C>ACA378527306RBM20c.24C>A (p.Ser8Arg)
c.26+1038C>A (n.26+1038C>A)
10g.110644478C>GCA378527308RBM20c.24C>G (p.Ser8Arg)
c.26+1038C>G (n.26+1038C>G)
 gnomAD v4
10g.110644478C>TCA471464161RBM20c.24C>T (p.Ser8=)
c.26+1038C>T (n.26+1038C>T)
 gnomAD v4
10g.110644479C>ACA378527310RBM20c.25C>A (p.Gln9Lys)
c.26+1039C>A (n.26+1039C>A)
 gnomAD v4
10g.110644479C>GCA378527312RBM20c.25C>G (p.Gln9Glu)
c.26+1039C>G (n.26+1039C>G)
10g.110644479C>TCA378527314RBM20c.25C>T (p.Gln9Ter)
c.26+1039C>T (n.26+1039C>T)
 ClinVar dbSNP
10g.110644480A>CCA378527315RBM20c.26A>C (p.Gln9Pro)
c.26+1040A>C (n.26+1040A>C)
10g.110644480A>GCA378527316RBM20c.26A>G (p.Gln9Arg)
c.26+1040A>G (n.26+1040A>G)
 gnomAD v4
10g.110644480A>TCA378527318RBM20c.26A>T (p.Gln9Leu)
c.26+1040A>T (n.26+1040A>T)
10g.110644481G>ACA471464162RBM20c.27G>A (p.Gln9=)
c.26+1041G>A (n.26+1041G>A)
 gnomAD v4
10g.110644481G>CCA378527321RBM20c.27G>C (p.Gln9His)
c.26+1041G>C (n.26+1041G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110644481G>TCA378527322RBM20c.27G>T (p.Gln9His)
c.26+1041G>T (n.26+1041G>T)
 gnomAD v4
10g.110644482G>ACA378527324RBM20c.28G>A (p.Asp10Asn)
c.26+1042G>A (n.26+1042G>A)
 gnomAD v4
10g.110644482G>CCA378527326RBM20c.28G>C (p.Asp10His)
c.26+1042G>C (n.26+1042G>C)
10g.110644482G>TCA378527328RBM20c.28G>T (p.Asp10Tyr)
c.26+1042G>T (n.26+1042G>T)
 gnomAD v4
10g.110644483A>CCA378527334RBM20c.29A>C (p.Asp10Ala)
c.26+1043A>C (n.26+1043A>C)
10g.110644483A>GCA378527330RBM20c.29A>G (p.Asp10Gly)
c.26+1043A>G (n.26+1043A>G)
 gnomAD v4
10g.110644483A>TCA378527332RBM20c.29A>T (p.Asp10Val)
c.26+1043A>T (n.26+1043A>T)
10g.110644484C>ACA378527337RBM20c.30C>A (p.Asp10Glu)
c.26+1044C>A (n.26+1044C>A)
 dbSNP gnomAD v2 gnomAD v4
10g.110644484C>GCA378527338RBM20c.30C>G (p.Asp10Glu)
c.26+1044C>G (n.26+1044C>G)
10g.110644484C>TCA471464163RBM20c.30C>T (p.Asp10=)
c.26+1044C>T (n.26+1044C>T)
10g.110644485G>ACA378527340RBM20c.31G>A (p.Ala11Thr)
c.26+1045G>A (n.26+1045G>A)
 gnomAD v4
10g.110644485G>CCA378527342RBM20c.31G>C (p.Ala11Pro)
c.26+1045G>C (n.26+1045G>C)
10g.110644485G>TCA378527345RBM20c.31G>T (p.Ala11Ser)
c.26+1045G>T (n.26+1045G>T)
 gnomAD v4
10g.110644486C>ACA378527346RBM20c.32C>A (p.Ala11Glu)
c.26+1046C>A (n.26+1046C>A)
 gnomAD v4
10g.110644486C>GCA378527348RBM20c.32C>G (p.Ala11Gly)
c.26+1046C>G (n.26+1046C>G)
 dbSNP gnomAD v4
10g.110644486C>TCA238690RBM20c.32C>T (p.Ala11Val)
c.26+1046C>T (n.26+1046C>T)
 ClinVar dbSNP gnomAD v4
10g.110644487G>ACA471464164RBM20c.33G>A (p.Ala11=)
c.26+1047G>A (n.26+1047G>A)
 dbSNP gnomAD v4
10g.110644487G>CCA471464165RBM20c.33G>C (p.Ala11=)
c.26+1047G>C (n.26+1047G>C)
10g.110644487G>TCA471464166RBM20c.33G>T (p.Ala11=)
c.26+1047G>T (n.26+1047G>T)
 gnomAD v4
10g.110644488G>ACA378527351RBM20c.34G>A (p.Asp12Asn)
c.26+1048G>A (n.26+1048G>A)
10g.110644488G>CCA378527353RBM20c.34G>C (p.Asp12His)
c.26+1048G>C (n.26+1048G>C)
10g.110644488G>TCA378527355RBM20c.34G>T (p.Asp12Tyr)
c.26+1048G>T (n.26+1048G>T)
 gnomAD v4
10g.110644489A>CCA378527359RBM20c.35A>C (p.Asp12Ala)
c.26+1049A>C (n.26+1049A>C)
10g.110644489A>GCA378527357RBM20c.35A>G (p.Asp12Gly)
c.26+1049A>G (n.26+1049A>G)
 gnomAD v4
10g.110644489A>TCA213903186RBM20c.35A>T (p.Asp12Val)
c.26+1049A>T (n.26+1049A>T)
 ClinVar dbSNP gnomAD v4
10g.110644490C>ACA5688485RBM20c.36C>A (p.Asp12Glu)
c.26+1050C>A (n.26+1050C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110644490C>GCA378527362RBM20c.36C>G (p.Asp12Glu)
c.26+1050C>G (n.26+1050C>G)
10g.110644490C>TCA471464167RBM20c.36C>T (p.Asp12=)
c.26+1050C>T (n.26+1050C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644493delCA2610890413RBM20c.39del (p.Ser14AlafsTer?)
c.26+1053del (n.26+1053del)
 gnomAD v4
10g.110644491C>ACA378527363RBM20c.37C>A (p.Pro13Thr)
c.26+1051C>A (n.26+1051C>A)
10g.110644491C>GCA378527364RBM20c.37C>G (p.Pro13Ala)
c.26+1051C>G (n.26+1051C>G)
10g.110644491C>TCA378527366RBM20c.37C>T (p.Pro13Ser)
c.26+1051C>T (n.26+1051C>T)
10g.110644492C>ACA378527368RBM20c.38C>A (p.Pro13His)
c.26+1052C>A (n.26+1052C>A)
10g.110644492C>GCA378527370RBM20c.38C>G (p.Pro13Arg)
c.26+1052C>G (n.26+1052C>G)
10g.110644492C>TCA378527371RBM20c.38C>T (p.Pro13Leu)
c.26+1052C>T (n.26+1052C>T)
 dbSNP gnomAD v4
10g.110644493C>ACA471464168RBM20c.39C>A (p.Pro13=)
c.26+1053C>A (n.26+1053C>A)
 gnomAD v4
10g.110644493C>GCA471464169RBM20c.39C>G (p.Pro13=)
c.26+1053C>G (n.26+1053C>G)
10g.110644493C>TCA471464170RBM20c.39C>T (p.Pro13=)
c.26+1053C>T (n.26+1053C>T)
 gnomAD v4
10g.110644494A>CCA378527374RBM20c.40A>C (p.Ser14Arg)
c.26+1054A>C (n.26+1054A>C)
10g.110644494A>GCA378527375RBM20c.40A>G (p.Ser14Gly)
c.26+1054A>G (n.26+1054A>G)
 gnomAD v4
10g.110644494A>TCA378527376RBM20c.40A>T (p.Ser14Cys)
c.26+1054A>T (n.26+1054A>T)
10g.110644495G>ACA378527380RBM20c.41G>A (p.Ser14Asn)
c.26+1055G>A (n.26+1055G>A)
10g.110644495G>CCA378527381RBM20c.41G>C (p.Ser14Thr)
c.26+1055G>C (n.26+1055G>C)
10g.110644495G>TCA378527383RBM20c.41G>T (p.Ser14Ile)
c.26+1055G>T (n.26+1055G>T)
 gnomAD v4
10g.110644496C>ACA378527386RBM20c.42C>A (p.Ser14Arg)
c.26+1056C>A (n.26+1056C>A)
 gnomAD v4
10g.110644496C>GCA335577RBM20c.42C>G (p.Ser14Arg)
c.26+1056C>G (n.26+1056C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110644496C>TCA471464171RBM20c.42C>T (p.Ser14=)
c.26+1056C>T (n.26+1056C>T)
 gnomAD v4
10g.110644497G>ACA378527389RBM20c.43G>A (p.Gly15Ser)
c.26+1057G>A (n.26+1057G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110644497G>CCA5688486RBM20c.43G>C (p.Gly15Arg)
c.26+1057G>C (n.26+1057G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110644497G>TCA378527392RBM20c.43G>T (p.Gly15Cys)
c.26+1057G>T (n.26+1057G>T)
 gnomAD v4
10g.110644498G>ACA378527394RBM20c.44G>A (p.Gly15Asp)
c.26+1058G>A (n.26+1058G>A)
 gnomAD v4
10g.110644498G>CCA378527396RBM20c.44G>C (p.Gly15Ala)
c.26+1058G>C (n.26+1058G>C)
10g.110644498G>TCA378527398RBM20c.44G>T (p.Gly15Val)
c.26+1058G>T (n.26+1058G>T)
 gnomAD v4
10g.110644499T>ACA471464172RBM20c.45T>A (p.Gly15=)
c.26+1059T>A (n.26+1059T>A)
10g.110644499T>CCA471464174RBM20c.45T>C (p.Gly15=)
c.26+1059T>C (n.26+1059T>C)
10g.110644499T>GCA471464173RBM20c.45T>G (p.Gly15=)
c.26+1059T>G (n.26+1059T>G)
10g.110644500C>ACA378527399RBM20c.46C>A (p.Pro16Thr)
c.26+1060C>A (n.26+1060C>A)
 gnomAD v4
10g.110644500C>GCA378527401RBM20c.46C>G (p.Pro16Ala)
c.26+1060C>G (n.26+1060C>G)
10g.110644500C>TCA378527403RBM20c.46C>T (p.Pro16Ser)
c.26+1060C>T (n.26+1060C>T)
 gnomAD v4
10g.110644501C>ACA378527404RBM20c.47C>A (p.Pro16Gln)
c.26+1061C>A (n.26+1061C>A)
 gnomAD v4
10g.110644501C>GCA378527405RBM20c.47C>G (p.Pro16Arg)
c.26+1061C>G (n.26+1061C>G)
10g.110644501C>TCA378527407RBM20c.47C>T (p.Pro16Leu)
c.26+1061C>T (n.26+1061C>T)
 gnomAD v4
10g.110644502G>ACA471464175RBM20c.48G>A (p.Pro16=)
c.26+1062G>A (n.26+1062G>A)
 gnomAD v4
10g.110644502G>CCA471464176RBM20c.48G>C (p.Pro16=)
c.26+1062G>C (n.26+1062G>C)
 ClinVar dbSNP gnomAD v4
10g.110644502G>TCA471464177RBM20c.48G>T (p.Pro16=)
c.26+1062G>T (n.26+1062G>T)
 gnomAD v4
10g.110644503G>ACA378527411RBM20c.49G>A (p.Glu17Lys)
c.26+1063G>A (n.26+1063G>A)
10g.110644503G>CCA378527412RBM20c.49G>C (p.Glu17Gln)
c.26+1063G>C (n.26+1063G>C)
10g.110644503G>TCA378527409RBM20c.49G>T (p.Glu17Ter)
c.26+1063G>T (n.26+1063G>T)
 gnomAD v4
10g.110644504A>CCA378527414RBM20c.50A>C (p.Glu17Ala)
c.26+1064A>C (n.26+1064A>C)
10g.110644504A>GCA378527416RBM20c.50A>G (p.Glu17Gly)
c.26+1064A>G (n.26+1064A>G)
10g.110644504A>TCA378527418RBM20c.50A>T (p.Glu17Val)
c.26+1064A>T (n.26+1064A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644505G>ACA471464183RBM20c.51G>A (p.Glu17=)
c.26+1065G>A (n.26+1065G>A)
 gnomAD v4
10g.110644505G>CCA378527420RBM20c.51G>C (p.Glu17Asp)
c.26+1065G>C (n.26+1065G>C)
10g.110644505G>TCA378527422RBM20c.51G>T (p.Glu17Asp)
c.26+1065G>T (n.26+1065G>T)
 gnomAD v4
10g.110644506C>ACA213903187RBM20c.52C>A (p.Gln18Lys)
c.26+1066C>A (n.26+1066C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110644506C>GCA378527425RBM20c.52C>G (p.Gln18Glu)
c.26+1066C>G (n.26+1066C>G)
 gnomAD v4
10g.110644506C>TCA378527427RBM20c.52C>T (p.Gln18Ter)
c.26+1066C>T (n.26+1066C>T)
 gnomAD v4
10g.110644507A>CCA378527429RBM20c.53A>C (p.Gln18Pro)
c.26+1067A>C (n.26+1067A>C)
10g.110644507A>GCA378527431RBM20c.53A>G (p.Gln18Arg)
c.26+1067A>G (n.26+1067A>G)
 gnomAD v4
10g.110644507A>TCA378527433RBM20c.53A>T (p.Gln18Leu)
c.26+1067A>T (n.26+1067A>T)
 dbSNP gnomAD v4
10g.110644508G>ACA471464184RBM20c.54G>A (p.Gln18=)
c.26+1068G>A (n.26+1068G>A)
 gnomAD v4
10g.110644508G>CCA378527436RBM20c.54G>C (p.Gln18His)
c.26+1068G>C (n.26+1068G>C)
10g.110644508G>TCA378527437RBM20c.54G>T (p.Gln18His)
c.26+1068G>T (n.26+1068G>T)
 gnomAD v4
10g.110644509C>ACA378527443RBM20c.55C>A (p.Pro19Thr)
c.26+1069C>A (n.26+1069C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110644509C>GCA378527442RBM20c.55C>G (p.Pro19Ala)
c.26+1069C>G (n.26+1069C>G)
10g.110644509C>TCA378527440RBM20c.55C>T (p.Pro19Ser)
c.26+1069C>T (n.26+1069C>T)
 gnomAD v4
10g.110644510C>ACA378527446RBM20c.56C>A (p.Pro19Gln)
c.26+1070C>A (n.26+1070C>A)
 gnomAD v4
10g.110644510C>GCA184130RBM20c.56C>G (p.Pro19Arg)
c.26+1070C>G (n.26+1070C>G)
 ClinVar dbSNP gnomAD v4
10g.110644510C>TCA378527448RBM20c.56C>T (p.Pro19Leu)
c.26+1070C>T (n.26+1070C>T)
 gnomAD v4
10g.110644511G>ACA5688487RBM20c.57G>A (p.Pro19=)
c.26+1071G>A (n.26+1071G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110644511G>CCA471464185RBM20c.57G>C (p.Pro19=)
c.26+1071G>C (n.26+1071G>C)
 gnomAD v4
10g.110644511G>TCA16605602RBM20c.57G>T (p.Pro19=)
c.26+1071G>T (n.26+1071G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644511_110644512delinsTTCA2573145535RBM20c.57_58delinsTT (p.Asp20Tyr)
c.26+1071_26+1072delinsTT (n.26+1071_26+1072delinsTT)
 ClinVar dbSNP
10g.110644512G>ACA378527451RBM20c.58G>A (p.Asp20Asn)
c.26+1072G>A (n.26+1072G>A)
 dbSNP gnomAD v4
10g.110644512G>CCA378527453RBM20c.58G>C (p.Asp20His)
c.26+1072G>C (n.26+1072G>C)
10g.110644512G>TCA378527455RBM20c.58G>T (p.Asp20Tyr)
c.26+1072G>T (n.26+1072G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644513A>CCA378527457RBM20c.59A>C (p.Asp20Ala)
c.26+1073A>C (n.26+1073A>C)
10g.110644513A>GCA378527459RBM20c.59A>G (p.Asp20Gly)
c.26+1073A>G (n.26+1073A>G)
 gnomAD v4
10g.110644513A>TCA378527461RBM20c.59A>T (p.Asp20Val)
c.26+1073A>T (n.26+1073A>T)
10g.110644514C>ACA378527463RBM20c.60C>A (p.Asp20Glu)
c.26+1074C>A (n.26+1074C>A)
 gnomAD v4
10g.110644514C>GCA378527465RBM20c.60C>G (p.Asp20Glu)
c.26+1074C>G (n.26+1074C>G)
 gnomAD v4
10g.110644514C>TCA471464186RBM20c.60C>T (p.Asp20=)
c.26+1074C>T (n.26+1074C>T)
10g.110644515A>CCA471464187RBM20c.61A>C (p.Arg21=)
c.26+1075A>C (n.26+1075A>C)
10g.110644515A>GCA378527467RBM20c.61A>G (p.Arg21Gly)
c.26+1075A>G (n.26+1075A>G)
 dbSNP gnomAD v4
10g.110644515A>TCA378527468RBM20c.61A>T (p.Arg21Ter)
c.26+1075A>T (n.26+1075A>T)
10g.110644516G>ACA378527473RBM20c.62G>A (p.Arg21Lys)
c.26+1076G>A (n.26+1076G>A)
10g.110644516G>CCA378527475RBM20c.62G>C (p.Arg21Thr)
c.26+1076G>C (n.26+1076G>C)
10g.110644516G>TCA378527471RBM20c.62G>T (p.Arg21Ile)
c.26+1076G>T (n.26+1076G>T)
 gnomAD v4
10g.110644517A>CCA378527479RBM20c.63A>C (p.Arg21Ser)
c.26+1077A>C (n.26+1077A>C)
10g.110644517A>GCA471464188RBM20c.63A>G (p.Arg21=)
c.26+1077A>G (n.26+1077A>G)
 gnomAD v4
10g.110644517A>TCA378527478RBM20c.63A>T (p.Arg21Ser)
c.26+1077A>T (n.26+1077A>T)
10g.110644518G>ACA378527484RBM20c.64G>A (p.Val22Ile)
c.26+1078G>A (n.26+1078G>A)
 gnomAD v4
10g.110644518G>CCA378527482RBM20c.64G>C (p.Val22Leu)
c.26+1078G>C (n.26+1078G>C)
10g.110644518G>TCA378527486RBM20c.64G>T (p.Val22Phe)
c.26+1078G>T (n.26+1078G>T)
 gnomAD v4
10g.110644519T>ACA378527488RBM20c.65T>A (p.Val22Asp)
c.26+1079T>A (n.26+1079T>A)
10g.110644519T>CCA378527489RBM20c.65T>C (p.Val22Ala)
c.26+1079T>C (n.26+1079T>C)
 gnomAD v4
10g.110644519T>GCA378527491RBM20c.65T>G (p.Val22Gly)
c.26+1079T>G (n.26+1079T>G)
10g.110644520T>ACA471464190RBM20c.66T>A (p.Val22=)
c.26+1080T>A (n.26+1080T>A)
10g.110644520T>CCA471464191RBM20c.66T>C (p.Val22=)
c.26+1080T>C (n.26+1080T>C)
 gnomAD v4
10g.110644520T>GCA471464189RBM20c.66T>G (p.Val22=)
c.26+1080T>G (n.26+1080T>G)
10g.110644521G>ACA378527493RBM20c.67G>A (p.Ala23Thr)
c.26+1081G>A (n.26+1081G>A)
 gnomAD v4 COSMIC
10g.110644521G>CCA378527495RBM20c.67G>C (p.Ala23Pro)
c.26+1081G>C (n.26+1081G>C)
10g.110644521G>TCA378527497RBM20c.67G>T (p.Ala23Ser)
c.26+1081G>T (n.26+1081G>T)
 gnomAD v4
10g.110644522C>ACA378527500RBM20c.68C>A (p.Ala23Asp)
c.26+1082C>A (n.26+1082C>A)
 gnomAD v4
10g.110644522C>GCA378527501RBM20c.68C>G (p.Ala23Gly)
c.26+1082C>G (n.26+1082C>G)
 ClinVar gnomAD v4
10g.110644522C>TCA213903188RBM20c.68C>T (p.Ala23Val)
c.26+1082C>T (n.26+1082C>T)
 ClinVar dbSNP gnomAD v4
10g.110644523C>ACA471464194RBM20c.69C>A (p.Ala23=)
c.26+1083C>A (n.26+1083C>A)
 gnomAD v4
10g.110644523C>GCA471464192RBM20c.69C>G (p.Ala23=)
c.26+1083C>G (n.26+1083C>G)
10g.110644523C>TCA471464193RBM20c.69C>T (p.Ala23=)
c.26+1083C>T (n.26+1083C>T)
 ClinVar dbSNP gnomAD v4
10g.110644524T>ACA378527504RBM20c.70T>A (p.Cys24Ser)
c.26+1084T>A (n.26+1084T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110644524T>CCA378527506RBM20c.70T>C (p.Cys24Arg)
c.26+1084T>C (n.26+1084T>C)
 ClinVar dbSNP gnomAD v4
10g.110644524T>GCA378527507RBM20c.70T>G (p.Cys24Gly)
c.26+1084T>G (n.26+1084T>G)
10g.110644525G>ACA378527511RBM20c.71G>A (p.Cys24Tyr)
c.26+1085G>A (n.26+1085G>A)
 gnomAD v4
10g.110644525G>CCA378527509RBM20c.71G>C (p.Cys24Ser)
c.26+1085G>C (n.26+1085G>C)
10g.110644525G>TCA378527510RBM20c.71G>T (p.Cys24Phe)
c.26+1085G>T (n.26+1085G>T)
 gnomAD v4
10g.110644526C>ACA378527513RBM20c.72C>A (p.Cys24Ter)
c.26+1086C>A (n.26+1086C>A)
 gnomAD v4
10g.110644526C>GCA378527517RBM20c.72C>G (p.Cys24Trp)
c.26+1086C>G (n.26+1086C>G)
10g.110644526C>TCA471464195RBM20c.72C>T (p.Cys24=)
c.26+1086C>T (n.26+1086C>T)
 ClinVar dbSNP gnomAD v4
10g.110644527A>CCA378527519RBM20c.73A>C (p.Ser25Arg)
c.26+1087A>C (n.26+1087A>C)
10g.110644527A>GCA378527521RBM20c.73A>G (p.Ser25Gly)
c.26+1087A>G (n.26+1087A>G)
 gnomAD v4
10g.110644527A>TCA378527523RBM20c.73A>T (p.Ser25Cys)
c.26+1087A>T (n.26+1087A>T)
 dbSNP
10g.110644528G>ACA378527525RBM20c.74G>A (p.Ser25Asn)
c.26+1088G>A (n.26+1088G>A)
10g.110644528G>CCA378527527RBM20c.74G>C (p.Ser25Thr)
c.26+1088G>C (n.26+1088G>C)
10g.110644528G>TCA378527528RBM20c.74G>T (p.Ser25Ile)
c.26+1088G>T (n.26+1088G>T)
 gnomAD v4
10g.110644529T>ACA378527531RBM20c.75T>A (p.Ser25Arg)
c.26+1089T>A (n.26+1089T>A)
10g.110644529T>CCA471464196RBM20c.75T>C (p.Ser25=)
c.26+1089T>C (n.26+1089T>C)
 ClinVar dbSNP gnomAD v4
10g.110644529T>GCA378527533RBM20c.75T>G (p.Ser25Arg)
c.26+1089T>G (n.26+1089T>G)
10g.110644530G>ACA378527541RBM20c.76G>A (p.Val26Met)
c.26+1090G>A (n.26+1090G>A)
 gnomAD v4
10g.110644530G>CCA378527538RBM20c.76G>C (p.Val26Leu)
c.26+1090G>C (n.26+1090G>C)
10g.110644530G>TCA378527536RBM20c.76G>T (p.Val26Leu)
c.26+1090G>T (n.26+1090G>T)
 gnomAD v4
10g.110644531T>ACA378527543RBM20c.77T>A (p.Val26Glu)
c.26+1091T>A (n.26+1091T>A)
10g.110644531T>CCA378527545RBM20c.77T>C (p.Val26Ala)
c.26+1091T>C (n.26+1091T>C)
 gnomAD v4
10g.110644531T>GCA378527547RBM20c.77T>G (p.Val26Gly)
c.26+1091T>G (n.26+1091T>G)
10g.110644532G>ACA471464197RBM20c.78G>A (p.Val26=)
c.26+1092G>A (n.26+1092G>A)
 gnomAD v4
10g.110644532G>CCA471464198RBM20c.78G>C (p.Val26=)
c.26+1092G>C (n.26+1092G>C)
10g.110644532G>TCA471464199RBM20c.78G>T (p.Val26=)
c.26+1092G>T (n.26+1092G>T)
 gnomAD v4
10g.110644533C>ACA378527549RBM20c.79C>A (p.Pro27Thr)
c.26+1093C>A (n.26+1093C>A)
 gnomAD v4
10g.110644533C>GCA378527551RBM20c.79C>G (p.Pro27Ala)
c.26+1093C>G (n.26+1093C>G)
10g.110644533C>TCA378527553RBM20c.79C>T (p.Pro27Ser)
c.26+1093C>T (n.26+1093C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.110644534C>ACA378527555RBM20c.80C>A (p.Pro27His)
c.26+1094C>A (n.26+1094C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644534C>GCA378527557RBM20c.80C>G (p.Pro27Arg)
c.26+1094C>G (n.26+1094C>G)
10g.110644534C>TCA378527567RBM20c.80C>T (p.Pro27Leu)
c.26+1094C>T (n.26+1094C>T)
10g.110644535T>ACA471464200RBM20c.81T>A (p.Pro27=)
c.26+1095T>A (n.26+1095T>A)
10g.110644535T>CCA213903189RBM20c.81T>C (p.Pro27=)
c.26+1095T>C (n.26+1095T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110644535T>GCA471464201RBM20c.81T>G (p.Pro27=)
c.26+1095T>G (n.26+1095T>G)
10g.110644536G>ACA378527570RBM20c.82G>A (p.Gly28Ser)
c.26+1096G>A (n.26+1096G>A)
 gnomAD v4
10g.110644536G>CCA378527572RBM20c.82G>C (p.Gly28Arg)
c.26+1096G>C (n.26+1096G>C)
10g.110644536G>TCA378527573RBM20c.82G>T (p.Gly28Cys)
c.26+1096G>T (n.26+1096G>T)
 gnomAD v4
10g.110644537G>ACA378527580RBM20c.83G>A (p.Gly28Asp)
c.26+1097G>A (n.26+1097G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644537G>CCA378527576RBM20c.83G>C (p.Gly28Ala)
c.26+1097G>C (n.26+1097G>C)
10g.110644537G>TCA378527578RBM20c.83G>T (p.Gly28Val)
c.26+1097G>T (n.26+1097G>T)
 gnomAD v4
10g.110644538T>ACA471464202RBM20c.84T>A (p.Gly28=)
c.26+1098T>A (n.26+1098T>A)
10g.110644538T>CCA471464203RBM20c.84T>C (p.Gly28=)
c.26+1098T>C (n.26+1098T>C)
 gnomAD v4
10g.110644538T>GCA471464204RBM20c.84T>G (p.Gly28=)
c.26+1098T>G (n.26+1098T>G)
10g.110644539G>ACA378527582RBM20c.85G>A (p.Ala29Thr)
c.26+1099G>A (n.26+1099G>A)
 gnomAD v4
10g.110644539G>CCA378527584RBM20c.85G>C (p.Ala29Pro)
c.26+1099G>C (n.26+1099G>C)
 gnomAD v4
10g.110644539G>TCA378527586RBM20c.85G>T (p.Ala29Ser)
c.26+1099G>T (n.26+1099G>T)
 gnomAD v4
10g.110644541_110644546delCA2573145536RBM20c.87_92del (p.Arg30_Ala31del)
c.26+1101_26+1106del (n.26+1101_26+1106del)
 ClinVar dbSNP
10g.110644540C>ACA378527594RBM20c.86C>A (p.Ala29Asp)
c.26+1100C>A (n.26+1100C>A)
 gnomAD v4
10g.110644540C>GCA378527596RBM20c.86C>G (p.Ala29Gly)
c.26+1100C>G (n.26+1100C>G)
10g.110644540C>TCA378527598RBM20c.86C>T (p.Ala29Val)
c.26+1100C>T (n.26+1100C>T)
 gnomAD v4 COSMIC
10g.110644541C>ACA471464205RBM20c.87C>A (p.Ala29=)
c.26+1101C>A (n.26+1101C>A)
10g.110644541C>GCA471464207RBM20c.87C>G (p.Ala29=)
c.26+1101C>G (n.26+1101C>G)
10g.110644541C>TCA471464206RBM20c.87C>T (p.Ala29=)
c.26+1101C>T (n.26+1101C>T)
 gnomAD v4
10g.110644542C>ACA471464208RBM20c.88C>A (p.Arg30=)
c.26+1102C>A (n.26+1102C>A)
 gnomAD v4
10g.110644542C>GCA378527600RBM20c.88C>G (p.Arg30Gly)
c.26+1102C>G (n.26+1102C>G)
 ClinVar
10g.110644542C>TCA378527601RBM20c.88C>T (p.Arg30Trp)
c.26+1102C>T (n.26+1102C>T)
 dbSNP gnomAD v4
10g.110644543G>ACA378527615RBM20c.89G>A (p.Arg30Gln)
c.26+1103G>A (n.26+1103G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.110644543G>CCA378527616RBM20c.89G>C (p.Arg30Pro)
c.26+1103G>C (n.26+1103G>C)
 dbSNP gnomAD v2 gnomAD v4
10g.110644543G>TCA378527619RBM20c.89G>T (p.Arg30Leu)
c.26+1103G>T (n.26+1103G>T)
 gnomAD v4
10g.110644543_110644544delinsCACA2497306215RBM20c.89_90delinsCA (p.Arg30Pro)
c.26+1103_26+1104delinsCA (n.26+1103_26+1104delinsCA)
 ClinVar dbSNP
10g.110644544G>ACA133423RBM20c.90G>A (p.Arg30=)
c.26+1104G>A (n.26+1104G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110644544G>CCA471464209RBM20c.90G>C (p.Arg30=)
c.26+1104G>C (n.26+1104G>C)
10g.110644544G=CA2573049929RBM20c.90G= (p.Arg30=)
c.26+1104G= (n.26+1104G=)
10g.110644544G>TCA471464210RBM20c.90G>T (p.Arg30=)
c.26+1104G>T (n.26+1104G>T)
 gnomAD v4
10g.110644545G>ACA378527624RBM20c.91G>A (p.Ala31Thr)
c.26+1105G>A (n.26+1105G>A)
 gnomAD v4
10g.110644545G>CCA378527626RBM20c.91G>C (p.Ala31Pro)
c.26+1105G>C (n.26+1105G>C)
10g.110644545G>TCA378527622RBM20c.91G>T (p.Ala31Ser)
c.26+1105G>T (n.26+1105G>T)
 gnomAD v4
10g.110644546C>ACA378527632RBM20c.92C>A (p.Ala31Glu)
c.26+1106C>A (n.26+1106C>A)
 gnomAD v4
10g.110644546C>GCA378527629RBM20c.92C>G (p.Ala31Gly)
c.26+1106C>G (n.26+1106C>G)
10g.110644546C>TCA378527630RBM20c.92C>T (p.Ala31Val)
c.26+1106C>T (n.26+1106C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.110644547G>ACA471464211RBM20c.93G>A (p.Ala31=)
c.26+1107G>A (n.26+1107G>A)
 dbSNP gnomAD v2 gnomAD v4
10g.110644547G>CCA471464212RBM20c.93G>C (p.Ala31=)
c.26+1107G>C (n.26+1107G>C)
10g.110644547G>TCA471464213RBM20c.93G>T (p.Ala31=)
c.26+1107G>T (n.26+1107G>T)
 gnomAD v4
10g.110644548T>ACA378527634RBM20c.94T>A (p.Ser32Thr)
c.26+1108T>A (n.26+1108T>A)
10g.110644548T>CCA378527635RBM20c.94T>C (p.Ser32Pro)
c.26+1108T>C (n.26+1108T>C)
 dbSNP gnomAD v4
10g.110644548T>GCA378527637RBM20c.94T>G (p.Ser32Ala)
c.26+1108T>G (n.26+1108T>G)
10g.110644549C>ACA378527639RBM20c.95C>A (p.Ser32Tyr)
c.26+1109C>A (n.26+1109C>A)
 gnomAD v4
10g.110644549C>GCA378527641RBM20c.95C>G (p.Ser32Cys)
c.26+1109C>G (n.26+1109C>G)
 gnomAD v4
10g.110644549C>TCA378527643RBM20c.95C>T (p.Ser32Phe)
c.26+1109C>T (n.26+1109C>T)
 gnomAD v4
10g.110644552delCA596022008RBM20c.98del (p.Pro33ArgfsTer?)
c.26+1112del (n.26+1112del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110644550C>ACA471464214RBM20c.96C>A (p.Ser32=)
c.26+1110C>A (n.26+1110C>A)
10g.110644550C>GCA5688488RBM20c.96C>G (p.Ser32=)
c.26+1110C>G (n.26+1110C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.110644550C>TCA471464215RBM20c.96C>T (p.Ser32=)
c.26+1110C>T (n.26+1110C>T)
 gnomAD v4

Number of alleles fetched