Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.4418054_4418082delCA2664206516SUMF1c.654_682del (p.Cys218Ter)
c.579_607del (p.Cys193Ter)
c.445-7103_445-7075del (n.445-7103_445-7075del)
 gnomAD v4
3g.4418060C>ACA432313687SUMF1c.675G>T (p.Leu225=)
c.600G>T (p.Leu200=)
c.445-7082G>T (n.445-7082G>T)
 ClinVar dbSNP gnomAD v4
3g.4418060C=CA1342154225SUMF1c.675G= (p.Leu225=)
c.600G= (p.Leu200=)
c.445-7082G= (n.445-7082G=)
3g.4418060C>GCA432313690SUMF1c.675G>C (p.Leu225=)
c.600G>C (p.Leu200=)
c.445-7082G>C (n.445-7082G>C)
 gnomAD v4
3g.4418060C>TCA2230502SUMF1c.675G>A (p.Leu225=)
c.600G>A (p.Leu200=)
c.445-7082G>A (n.445-7082G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418060dupCA2580069165SUMF1c.675dup (p.Pro226AlafsTer5)
c.600dup (p.Pro201AlafsTer5)
c.445-7082dup (n.445-7082dup)
 ClinVar
3g.4418061A>CCA351632586SUMF1c.674T>G (p.Leu225Arg)
c.599T>G (p.Leu200Arg)
c.445-7083T>G (n.445-7083T>G)
3g.4418061A>GCA351632587SUMF1c.674T>C (p.Leu225Pro)
c.599T>C (p.Leu200Pro)
c.445-7083T>C (n.445-7083T>C)
 gnomAD v4
3g.4418061A>TCA351632589SUMF1c.674T>A (p.Leu225Gln)
c.599T>A (p.Leu200Gln)
c.445-7083T>A (n.445-7083T>A)
3g.4418062G>ACA432313699SUMF1c.673C>T (p.Leu225=)
c.598C>T (p.Leu200=)
c.445-7084C>T (n.445-7084C>T)
3g.4418062G>CCA351632591SUMF1c.673C>G (p.Leu225Val)
c.598C>G (p.Leu200Val)
c.445-7084C>G (n.445-7084C>G)
3g.4418062G>TCA351632594SUMF1c.673C>A (p.Leu225Met)
c.598C>A (p.Leu200Met)
c.445-7084C>A (n.445-7084C>A)
3g.4418063C>ACA432313710SUMF1c.672G>T (p.Arg224=)
c.597G>T (p.Arg199=)
c.445-7085G>T (n.445-7085G>T)
3g.4418063C=CA1342154227SUMF1c.672G= (p.Arg224=)
c.597G= (p.Arg199=)
c.445-7085G= (n.445-7085G=)
3g.4418063C>GCA432313714SUMF1c.672G>C (p.Arg224=)
c.597G>C (p.Arg199=)
c.445-7085G>C (n.445-7085G>C)
 dbSNP
3g.4418063C>TCA432313719SUMF1c.672G>A (p.Arg224=)
c.597G>A (p.Arg199=)
c.445-7085G>A (n.445-7085G>A)
 dbSNP gnomAD v4
3g.4418064C>ACA351632598SUMF1c.671G>T (p.Arg224Leu)
c.596G>T (p.Arg199Leu)
c.445-7086G>T (n.445-7086G>T)
3g.4418064C=CA1342154233SUMF1c.671G= (p.Arg224=)
c.596G= (p.Arg199=)
c.445-7086G= (n.445-7086G=)
3g.4418064C>GCA351632599SUMF1c.671G>C (p.Arg224Pro)
c.596G>C (p.Arg199Pro)
c.445-7086G>C (n.445-7086G>C)
 ClinVar gnomAD v4
3g.4418064C>TCA351632600SUMF1c.671G>A (p.Arg224Gln)
c.596G>A (p.Arg199Gln)
c.445-7086G>A (n.445-7086G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.4418065G>ACA2230503SUMF1c.670C>T (p.Arg224Trp)
c.595C>T (p.Arg199Trp)
c.445-7087C>T (n.445-7087C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418065G>CCA351632603SUMF1c.670C>G (p.Arg224Gly)
c.595C>G (p.Arg199Gly)
c.445-7087C>G (n.445-7087C>G)
3g.4418065G=CA1342154239SUMF1c.670C= (p.Arg224=)
c.595C= (p.Arg199=)
c.445-7087C= (n.445-7087C=)
3g.4418065G>TCA432313737SUMF1c.670C>A (p.Arg224=)
c.595C>A (p.Arg199=)
c.445-7087C>A (n.445-7087C>A)
3g.4418066C>ACA351632608SUMF1c.669G>T (p.Lys223Asn)
c.594G>T (p.Lys198Asn)
c.445-7088G>T (n.445-7088G>T)
3g.4418066C>GCA351632607SUMF1c.669G>C (p.Lys223Asn)
c.594G>C (p.Lys198Asn)
c.445-7088G>C (n.445-7088G>C)
3g.4418066C>TCA432313741SUMF1c.669G>A (p.Lys223=)
c.594G>A (p.Lys198=)
c.445-7088G>A (n.445-7088G>A)
3g.4418067T>ACA351632611SUMF1c.668A>T (p.Lys223Met)
c.593A>T (p.Lys198Met)
c.445-7089A>T (n.445-7089A>T)
3g.4418067T>CCA351632619SUMF1c.668A>G (p.Lys223Arg)
c.593A>G (p.Lys198Arg)
c.445-7089A>G (n.445-7089A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.4418067T>GCA351632621SUMF1c.668A>C (p.Lys223Thr)
c.593A>C (p.Lys198Thr)
c.445-7089A>C (n.445-7089A>C)
3g.4418067T=CA1342154242SUMF1c.668A= (p.Lys223=)
c.593A= (p.Lys198=)
c.445-7089A= (n.445-7089A=)
3g.4418068delCA2573136906SUMF1c.668del (p.Lys223SerfsTer?)
c.593del (p.Lys198SerfsTer?)
c.445-7089del (n.445-7089del)
 ClinVar dbSNP gnomAD v4
3g.4418068T>ACA351632624SUMF1c.667A>T (p.Lys223Ter)
c.592A>T (p.Lys198Ter)
c.445-7090A>T (n.445-7090A>T)
3g.4418068T>CCA351632626SUMF1c.667A>G (p.Lys223Glu)
c.592A>G (p.Lys198Glu)
c.445-7090A>G (n.445-7090A>G)
3g.4418068T>GCA351632628SUMF1c.667A>C (p.Lys223Gln)
c.592A>C (p.Lys198Gln)
c.445-7090A>C (n.445-7090A>C)
3g.4418069C>ACA432313779SUMF1c.666G>T (p.Gly222=)
c.591G>T (p.Gly197=)
c.445-7091G>T (n.445-7091G>T)
3g.4418069C=CA1342154246SUMF1c.666G= (p.Gly222=)
c.591G= (p.Gly197=)
c.445-7091G= (n.445-7091G=)
3g.4418069C>GCA432313782SUMF1c.666G>C (p.Gly222=)
c.591G>C (p.Gly197=)
c.445-7091G>C (n.445-7091G>C)
3g.4418069C>TCA432313785SUMF1c.666G>A (p.Gly222=)
c.591G>A (p.Gly197=)
c.445-7091G>A (n.445-7091G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.4418070C>ACA351632630SUMF1c.665G>T (p.Gly222Val)
c.590G>T (p.Gly197Val)
c.445-7092G>T (n.445-7092G>T)
3g.4418070C=CA1342154250SUMF1c.665G= (p.Gly222=)
c.590G= (p.Gly197=)
c.445-7092G= (n.445-7092G=)
3g.4418070C>GCA351632632SUMF1c.665G>C (p.Gly222Ala)
c.590G>C (p.Gly197Ala)
c.445-7092G>C (n.445-7092G>C)
3g.4418070C>TCA2230504SUMF1c.665G>A (p.Gly222Glu)
c.590G>A (p.Gly197Glu)
c.445-7092G>A (n.445-7092G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418071C>ACA351632640SUMF1c.664G>T (p.Gly222Trp)
c.589G>T (p.Gly197Trp)
c.445-7093G>T (n.445-7093G>T)
3g.4418071C=CA1342154254SUMF1c.664G= (p.Gly222=)
c.589G= (p.Gly197=)
c.445-7093G= (n.445-7093G=)
3g.4418071C>GCA2230505SUMF1c.664G>C (p.Gly222Arg)
c.589G>C (p.Gly197Arg)
c.445-7093G>C (n.445-7093G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418071C>TCA351632643SUMF1c.664G>A (p.Gly222Arg)
c.589G>A (p.Gly197Arg)
c.445-7093G>A (n.445-7093G>A)
3g.4418072T>ACA432313803SUMF1c.663A>T (p.Ala221=)
c.588A>T (p.Ala196=)
c.445-7094A>T (n.445-7094A>T)
3g.4418072T>CCA432313808SUMF1c.663A>G (p.Ala221=)
c.588A>G (p.Ala196=)
c.445-7094A>G (n.445-7094A>G)
 dbSNP gnomAD v4
3g.4418072T>GCA2230506SUMF1c.663A>C (p.Ala221=)
c.588A>C (p.Ala196=)
c.445-7094A>C (n.445-7094A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418072T=CA1342154261SUMF1c.663A= (p.Ala221=)
c.588A= (p.Ala196=)
c.445-7094A= (n.445-7094A=)
3g.4418073G>ACA351632651SUMF1c.662C>T (p.Ala221Val)
c.587C>T (p.Ala196Val)
c.445-7095C>T (n.445-7095C>T)
3g.4418073G>CCA351632654SUMF1c.662C>G (p.Ala221Gly)
c.587C>G (p.Ala196Gly)
c.445-7095C>G (n.445-7095C>G)
3g.4418073G>TCA351632652SUMF1c.662C>A (p.Ala221Glu)
c.587C>A (p.Ala196Glu)
c.445-7095C>A (n.445-7095C>A)
3g.4418073_4418074delinsGCCA1342154265SUMF1c.661_662delinsGC (p.Ala221=)
c.586_587delinsGC (p.Ala196=)
c.445-7096_445-7095delinsGC (n.445-7096_445-7095delinsGC)
3g.4418074C>ACA351632657SUMF1c.661G>T (p.Ala221Ser)
c.586G>T (p.Ala196Ser)
c.445-7096G>T (n.445-7096G>T)
3g.4418074C=CA1342154270SUMF1c.661G= (p.Ala221=)
c.586G= (p.Ala196=)
c.445-7096G= (n.445-7096G=)
3g.4418074C>GCA351632659SUMF1c.661G>C (p.Ala221Pro)
c.586G>C (p.Ala196Pro)
c.445-7096G>C (n.445-7096G>C)
3g.4418074C>TCA2230507SUMF1c.661G>A (p.Ala221Thr)
c.586G>A (p.Ala196Thr)
c.445-7096G>A (n.445-7096G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418076delCA212800SUMF1c.661del (p.Ala221GlnfsTer?)
c.586del (p.Ala196GlnfsTer?)
c.445-7096del (n.445-7096del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418075C>ACA351632663SUMF1c.660G>T (p.Trp220Cys)
c.585G>T (p.Trp195Cys)
c.445-7097G>T (n.445-7097G>T)
 COSMIC COSMIC
3g.4418075C>GCA351632665SUMF1c.660G>C (p.Trp220Cys)
c.585G>C (p.Trp195Cys)
c.445-7097G>C (n.445-7097G>C)
3g.4418075C>TCA351632667SUMF1c.660G>A (p.Trp220Ter)
c.585G>A (p.Trp195Ter)
c.445-7097G>A (n.445-7097G>A)
3g.4418076C>ACA351632669SUMF1c.659G>T (p.Trp220Leu)
c.584G>T (p.Trp195Leu)
c.445-7098G>T (n.445-7098G>T)
 gnomAD v4
3g.4418076C=CA1342154279SUMF1c.659G= (p.Trp220=)
c.584G= (p.Trp195=)
c.445-7098G= (n.445-7098G=)
3g.4418076C>GCA351632671SUMF1c.659G>C (p.Trp220Ser)
c.584G>C (p.Trp195Ser)
c.445-7098G>C (n.445-7098G>C)
 dbSNP gnomAD v4
3g.4418076C>TCA351632673SUMF1c.659G>A (p.Trp220Ter)
c.584G>A (p.Trp195Ter)
c.445-7098G>A (n.445-7098G>A)
 ClinVar dbSNP gnomAD v4
3g.4418077A>CCA351632675SUMF1c.658T>G (p.Trp220Gly)
c.583T>G (p.Trp195Gly)
c.445-7099T>G (n.445-7099T>G)
3g.4418077A>GCA351632676SUMF1c.658T>C (p.Trp220Arg)
c.583T>C (p.Trp195Arg)
c.445-7099T>C (n.445-7099T>C)
3g.4418077A>TCA351632677SUMF1c.658T>A (p.Trp220Arg)
c.583T>A (p.Trp195Arg)
c.445-7099T>A (n.445-7099T>A)
3g.4418078A>CCA432313850SUMF1c.657T>G (p.Thr219=)
c.582T>G (p.Thr194=)
c.445-7100T>G (n.445-7100T>G)
3g.4418078A>GCA432313856SUMF1c.657T>C (p.Thr219=)
c.582T>C (p.Thr194=)
c.445-7100T>C (n.445-7100T>C)
3g.4418078A>TCA432313858SUMF1c.657T>A (p.Thr219=)
c.582T>A (p.Thr194=)
c.445-7100T>A (n.445-7100T>A)
3g.4418079_4418109delCA2739278161SUMF1c.627_657del (p.Ser210GlyfsTer?)
c.552_582del (p.Ser185GlyfsTer?)
c.445-7130_445-7100del (n.445-7130_445-7100del)
 ClinVar
3g.4418079G>ACA351632680SUMF1c.656C>T (p.Thr219Ile)
c.581C>T (p.Thr194Ile)
c.445-7101C>T (n.445-7101C>T)
3g.4418079G>CCA351632679SUMF1c.656C>G (p.Thr219Ser)
c.581C>G (p.Thr194Ser)
c.445-7101C>G (n.445-7101C>G)
 dbSNP gnomAD v3 gnomAD v4
3g.4418079G=CA1342154282SUMF1c.656C= (p.Thr219=)
c.581C= (p.Thr194=)
c.445-7101C= (n.445-7101C=)
3g.4418079G>TCA351632678SUMF1c.656C>A (p.Thr219Asn)
c.581C>A (p.Thr194Asn)
c.445-7101C>A (n.445-7101C>A)
3g.4418080T>ACA351632684SUMF1c.655A>T (p.Thr219Ser)
c.580A>T (p.Thr194Ser)
c.445-7102A>T (n.445-7102A>T)
3g.4418080T>CCA351632686SUMF1c.655A>G (p.Thr219Ala)
c.580A>G (p.Thr194Ala)
c.445-7102A>G (n.445-7102A>G)
 gnomAD v4
3g.4418080T>GCA351632688SUMF1c.655A>C (p.Thr219Pro)
c.580A>C (p.Thr194Pro)
c.445-7102A>C (n.445-7102A>C)
 dbSNP gnomAD v2 gnomAD v4
3g.4418080T=CA1342154284SUMF1c.655A= (p.Thr219=)
c.580A= (p.Thr194=)
c.445-7102A= (n.445-7102A=)
3g.4418081G>ACA432313876SUMF1c.654C>T (p.Cys218=)
c.579C>T (p.Cys193=)
c.445-7103C>T (n.445-7103C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.4418081G>CCA351632690SUMF1c.654C>G (p.Cys218Trp)
c.579C>G (p.Cys193Trp)
c.445-7103C>G (n.445-7103C>G)
3g.4418081G=CA1342154288SUMF1c.654C= (p.Cys218=)
c.579C= (p.Cys193=)
c.445-7103C= (n.445-7103C=)
3g.4418081G>TCA351632692SUMF1c.654C>A (p.Cys218Ter)
c.579C>A (p.Cys193Ter)
c.445-7103C>A (n.445-7103C>A)
3g.4418082C>ACA351632695SUMF1c.653G>T (p.Cys218Phe)
c.578G>T (p.Cys193Phe)
c.445-7104G>T (n.445-7104G>T)
3g.4418082C=CA1342154292SUMF1c.653G= (p.Cys218=)
c.578G= (p.Cys193=)
c.445-7104G= (n.445-7104G=)
3g.4418082C>GCA351632697SUMF1c.653G>C (p.Cys218Ser)
c.578G>C (p.Cys193Ser)
c.445-7104G>C (n.445-7104G>C)
3g.4418082C>TCA115680SUMF1c.653G>A (p.Cys218Tyr)
c.578G>A (p.Cys193Tyr)
c.445-7104G>A (n.445-7104G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.4418083A>CCA351632699SUMF1c.652T>G (p.Cys218Gly)
c.577T>G (p.Cys193Gly)
c.445-7105T>G (n.445-7105T>G)
3g.4418083A>GCA351632700SUMF1c.652T>C (p.Cys218Arg)
c.577T>C (p.Cys193Arg)
c.445-7105T>C (n.445-7105T>C)
 gnomAD v4
3g.4418083A>TCA351632701SUMF1c.652T>A (p.Cys218Ser)
c.577T>A (p.Cys193Ser)
c.445-7105T>A (n.445-7105T>A)
 gnomAD v4
3g.4418084G>ACA2230508SUMF1c.651C>T (p.Tyr217=)
c.576C>T (p.Tyr192=)
c.445-7106C>T (n.445-7106C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418084G>CCA351632703SUMF1c.651C>G (p.Tyr217Ter)
c.576C>G (p.Tyr192Ter)
c.445-7106C>G (n.445-7106C>G)
3g.4418084G=CA1342154297SUMF1c.651C= (p.Tyr217=)
c.576C= (p.Tyr192=)
c.445-7106C= (n.445-7106C=)
3g.4418084G>TCA351632704SUMF1c.651C>A (p.Tyr217Ter)
c.576C>A (p.Tyr192Ter)
c.445-7106C>A (n.445-7106C>A)
3g.4418085T>ACA351632707SUMF1c.650A>T (p.Tyr217Phe)
c.575A>T (p.Tyr192Phe)
c.445-7107A>T (n.445-7107A>T)
3g.4418085T>CCA351632706SUMF1c.650A>G (p.Tyr217Cys)
c.575A>G (p.Tyr192Cys)
c.445-7107A>G (n.445-7107A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.4418085T>GCA351632705SUMF1c.650A>C (p.Tyr217Ser)
c.575A>C (p.Tyr192Ser)
c.445-7107A>C (n.445-7107A>C)
3g.4418085T=CA1342154301SUMF1c.650A= (p.Tyr217=)
c.575A= (p.Tyr192=)
c.445-7107A= (n.445-7107A=)
3g.4418086A>CCA351632708SUMF1c.649T>G (p.Tyr217Asp)
c.574T>G (p.Tyr192Asp)
c.445-7108T>G (n.445-7108T>G)
3g.4418086A>GCA351632709SUMF1c.649T>C (p.Tyr217His)
c.574T>C (p.Tyr192His)
c.445-7108T>C (n.445-7108T>C)
3g.4418086A>TCA351632710SUMF1c.649T>A (p.Tyr217Asn)
c.574T>A (p.Tyr192Asn)
c.445-7108T>A (n.445-7108T>A)
3g.4418087G>ACA432313915SUMF1c.648C>T (p.Ala216=)
c.573C>T (p.Ala191=)
c.445-7109C>T (n.445-7109C>T)
3g.4418087G>CCA432313923SUMF1c.648C>G (p.Ala216=)
c.573C>G (p.Ala191=)
c.445-7109C>G (n.445-7109C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.4418087G=CA1342154305SUMF1c.648C= (p.Ala216=)
c.573C= (p.Ala191=)
c.445-7109C= (n.445-7109C=)
3g.4418087G>TCA432313920SUMF1c.648C>A (p.Ala216=)
c.573C>A (p.Ala191=)
c.445-7109C>A (n.445-7109C>A)
3g.4418088G>ACA351632711SUMF1c.647C>T (p.Ala216Val)
c.572C>T (p.Ala191Val)
c.445-7110C>T (n.445-7110C>T)
3g.4418088G>CCA351632712SUMF1c.647C>G (p.Ala216Gly)
c.572C>G (p.Ala191Gly)
c.445-7110C>G (n.445-7110C>G)
3g.4418088G>TCA351632713SUMF1c.647C>A (p.Ala216Asp)
c.572C>A (p.Ala191Asp)
c.445-7110C>A (n.445-7110C>A)
3g.4418089C>ACA351632714SUMF1c.646G>T (p.Ala216Ser)
c.571G>T (p.Ala191Ser)
c.445-7111G>T (n.445-7111G>T)
3g.4418089C>GCA351632715SUMF1c.646G>C (p.Ala216Pro)
c.571G>C (p.Ala191Pro)
c.445-7111G>C (n.445-7111G>C)
3g.4418089C>TCA351632716SUMF1c.646G>A (p.Ala216Thr)
c.571G>A (p.Ala191Thr)
c.445-7111G>A (n.445-7111G>A)
3g.4418090A=CA1342154309SUMF1c.645T= (p.Val215=)
c.570T= (p.Val190=)
c.445-7112T= (n.445-7112T=)
3g.4418090A>CCA432313946SUMF1c.645T>G (p.Val215=)
c.570T>G (p.Val190=)
c.445-7112T>G (n.445-7112T>G)
3g.4418090A>GCA2230509SUMF1c.645T>C (p.Val215=)
c.570T>C (p.Val190=)
c.445-7112T>C (n.445-7112T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418090A>TCA432313947SUMF1c.645T>A (p.Val215=)
c.570T>A (p.Val190=)
c.445-7112T>A (n.445-7112T>A)
3g.4418091A=CA1342154313SUMF1c.644T= (p.Val215=)
c.569T= (p.Val190=)
c.445-7113T= (n.445-7113T=)
3g.4418091A>CCA351632717SUMF1c.644T>G (p.Val215Gly)
c.569T>G (p.Val190Gly)
c.445-7113T>G (n.445-7113T>G)
3g.4418091A>GCA351632718SUMF1c.644T>C (p.Val215Ala)
c.569T>C (p.Val190Ala)
c.445-7113T>C (n.445-7113T>C)
3g.4418091A>TCA68802873SUMF1c.644T>A (p.Val215Asp)
c.569T>A (p.Val190Asp)
c.445-7113T>A (n.445-7113T>A)
 dbSNP
3g.4418092C>ACA351632722SUMF1c.643G>T (p.Val215Phe)
c.568G>T (p.Val190Phe)
c.445-7114G>T (n.445-7114G>T)
3g.4418092C=CA1342154316SUMF1c.643G= (p.Val215=)
c.568G= (p.Val190=)
c.445-7114G= (n.445-7114G=)
3g.4418092C>GCA351632721SUMF1c.643G>C (p.Val215Leu)
c.568G>C (p.Val190Leu)
c.445-7114G>C (n.445-7114G>C)
3g.4418092C>TCA351632719SUMF1c.643G>A (p.Val215Ile)
c.568G>A (p.Val190Ile)
c.445-7114G>A (n.445-7114G>A)
 dbSNP gnomAD v2
3g.4418093C>ACA2230511SUMF1c.642G>T (p.Ala214=)
c.567G>T (p.Ala189=)
c.445-7115G>T (n.445-7115G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418093C=CA1342154319SUMF1c.642G= (p.Ala214=)
c.567G= (p.Ala189=)
c.445-7115G= (n.445-7115G=)
3g.4418093C>GCA432313961SUMF1c.642G>C (p.Ala214=)
c.567G>C (p.Ala189=)
c.445-7115G>C (n.445-7115G>C)
 gnomAD v4
3g.4418093C>TCA2230510SUMF1c.642G>A (p.Ala214=)
c.567G>A (p.Ala189=)
c.445-7115G>A (n.445-7115G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418094G>ACA2230512SUMF1c.641C>T (p.Ala214Val)
c.566C>T (p.Ala189Val)
c.445-7116C>T (n.445-7116C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418094G>CCA351632723SUMF1c.641C>G (p.Ala214Gly)
c.566C>G (p.Ala189Gly)
c.445-7116C>G (n.445-7116C>G)
3g.4418094G=CA1342154323SUMF1c.641C= (p.Ala214=)
c.566C= (p.Ala189=)
c.445-7116C= (n.445-7116C=)
3g.4418094G>TCA351632724SUMF1c.641C>A (p.Ala214Glu)
c.566C>A (p.Ala189Glu)
c.445-7116C>A (n.445-7116C>A)
 dbSNP gnomAD v3 gnomAD v4
3g.4418095C>ACA351632725SUMF1c.640G>T (p.Ala214Ser)
c.565G>T (p.Ala189Ser)
c.445-7117G>T (n.445-7117G>T)
3g.4418095C>GCA351632726SUMF1c.640G>C (p.Ala214Pro)
c.565G>C (p.Ala189Pro)
c.445-7117G>C (n.445-7117G>C)
3g.4418095C>TCA351632727SUMF1c.640G>A (p.Ala214Thr)
c.565G>A (p.Ala189Thr)
c.445-7117G>A (n.445-7117G>A)
 gnomAD v4
3g.4418096A>CCA351632728SUMF1c.639T>G (p.Asp213Glu)
c.564T>G (p.Asp188Glu)
c.445-7118T>G (n.445-7118T>G)
3g.4418096A>GCA432313991SUMF1c.639T>C (p.Asp213=)
c.564T>C (p.Asp188=)
c.445-7118T>C (n.445-7118T>C)
 gnomAD v4
3g.4418096A>TCA351632729SUMF1c.639T>A (p.Asp213Glu)
c.564T>A (p.Asp188Glu)
c.445-7118T>A (n.445-7118T>A)
 gnomAD v4
3g.4418097T>ACA351632730SUMF1c.638A>T (p.Asp213Val)
c.563A>T (p.Asp188Val)
c.445-7119A>T (n.445-7119A>T)
 ClinVar dbSNP gnomAD v4
3g.4418097T>CCA2230513SUMF1c.638A>G (p.Asp213Gly)
c.563A>G (p.Asp188Gly)
c.445-7119A>G (n.445-7119A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418097T>GCA351632731SUMF1c.638A>C (p.Asp213Ala)
c.563A>C (p.Asp188Ala)
c.445-7119A>C (n.445-7119A>C)
3g.4418097T=CA1342154325SUMF1c.638A= (p.Asp213=)
c.563A= (p.Asp188=)
c.445-7119A= (n.445-7119A=)
3g.4418098C>ACA351632733SUMF1c.637G>T (p.Asp213Tyr)
c.562G>T (p.Asp188Tyr)
c.445-7120G>T (n.445-7120G>T)
3g.4418098C>GCA351632734SUMF1c.637G>C (p.Asp213His)
c.562G>C (p.Asp188His)
c.445-7120G>C (n.445-7120G>C)
3g.4418098C>TCA351632732SUMF1c.637G>A (p.Asp213Asn)
c.562G>A (p.Asp188Asn)
c.445-7120G>A (n.445-7120G>A)
3g.4418099A>CCA351632735SUMF1c.636T>G (p.Asn212Lys)
c.561T>G (p.Asn187Lys)
c.445-7121T>G (n.445-7121T>G)
3g.4418099A>GCA432314006SUMF1c.636T>C (p.Asn212=)
c.561T>C (p.Asn187=)
c.445-7121T>C (n.445-7121T>C)
3g.4418099A>TCA351632736SUMF1c.636T>A (p.Asn212Lys)
c.561T>A (p.Asn187Lys)
c.445-7121T>A (n.445-7121T>A)
3g.4418100T>ACA351632737SUMF1c.635A>T (p.Asn212Ile)
c.560A>T (p.Asn187Ile)
c.445-7122A>T (n.445-7122A>T)
3g.4418100T>CCA351632738SUMF1c.635A>G (p.Asn212Ser)
c.560A>G (p.Asn187Ser)
c.445-7122A>G (n.445-7122A>G)
 gnomAD v4
3g.4418100T>GCA351632739SUMF1c.635A>C (p.Asn212Thr)
c.560A>C (p.Asn187Thr)
c.445-7122A>C (n.445-7122A>C)
3g.4418101dupCA2697550632SUMF1c.635dup (p.Asn212LysfsTer2)
c.560dup (p.Asn187LysfsTer2)
c.445-7122dup (n.445-7122dup)
 ClinVar
3g.4418101T>ACA351632740SUMF1c.634A>T (p.Asn212Tyr)
c.559A>T (p.Asn187Tyr)
c.445-7123A>T (n.445-7123A>T)
3g.4418101T>CCA351632741SUMF1c.634A>G (p.Asn212Asp)
c.559A>G (p.Asn187Asp)
c.445-7123A>G (n.445-7123A>G)
3g.4418101T>GCA351632742SUMF1c.634A>C (p.Asn212His)
c.559A>C (p.Asn187His)
c.445-7123A>C (n.445-7123A>C)
3g.4418102C>ACA351632743SUMF1c.633G>T (p.Trp211Cys)
c.558G>T (p.Trp186Cys)
c.445-7124G>T (n.445-7124G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.4418102C=CA1342154327SUMF1c.633G= (p.Trp211=)
c.558G= (p.Trp186=)
c.445-7124G= (n.445-7124G=)
3g.4418102C>GCA351632744SUMF1c.633G>C (p.Trp211Cys)
c.558G>C (p.Trp186Cys)
c.445-7124G>C (n.445-7124G>C)
3g.4418102C>TCA351632745SUMF1c.633G>A (p.Trp211Ter)
c.558G>A (p.Trp186Ter)
c.445-7124G>A (n.445-7124G>A)
3g.4418103C>ACA351632746SUMF1c.632G>T (p.Trp211Leu)
c.557G>T (p.Trp186Leu)
c.445-7125G>T (n.445-7125G>T)
3g.4418103C=CA1342154331SUMF1c.632G= (p.Trp211=)
c.557G= (p.Trp186=)
c.445-7125G= (n.445-7125G=)
3g.4418103C>GCA351632747SUMF1c.632G>C (p.Trp211Ser)
c.557G>C (p.Trp186Ser)
c.445-7125G>C (n.445-7125G>C)
3g.4418103C>TCA351632748SUMF1c.632G>A (p.Trp211Ter)
c.557G>A (p.Trp186Ter)
c.445-7125G>A (n.445-7125G>A)
 ClinVar dbSNP
3g.4418105_4418111delCA2664206517SUMF1c.626_632del (p.Val209GlyfsTer?)
c.551_557del (p.Val184GlyfsTer?)
c.445-7131_445-7125del (n.445-7131_445-7125del)
 gnomAD v4
3g.4418104A>CCA351632749SUMF1c.631T>G (p.Trp211Gly)
c.556T>G (p.Trp186Gly)
c.445-7126T>G (n.445-7126T>G)
3g.4418104A>GCA351632751SUMF1c.631T>C (p.Trp211Arg)
c.556T>C (p.Trp186Arg)
c.445-7126T>C (n.445-7126T>C)
3g.4418104A>TCA351632750SUMF1c.631T>A (p.Trp211Arg)
c.556T>A (p.Trp186Arg)
c.445-7126T>A (n.445-7126T>A)
3g.4418105G>ACA432314046SUMF1c.630C>T (p.Ser210=)
c.555C>T (p.Ser185=)
c.445-7127C>T (n.445-7127C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.4418105G>CCA432314051SUMF1c.630C>G (p.Ser210=)
c.555C>G (p.Ser185=)
c.445-7127C>G (n.445-7127C>G)
3g.4418105G=CA1342154335SUMF1c.630C= (p.Ser210=)
c.555C= (p.Ser185=)
c.445-7127C= (n.445-7127C=)
3g.4418105G>TCA432314049SUMF1c.630C>A (p.Ser210=)
c.555C>A (p.Ser185=)
c.445-7127C>A (n.445-7127C>A)
3g.4418106G>ACA351632752SUMF1c.629C>T (p.Ser210Phe)
c.554C>T (p.Ser185Phe)
c.445-7128C>T (n.445-7128C>T)
 gnomAD v4
3g.4418106G>CCA351632753SUMF1c.629C>G (p.Ser210Cys)
c.554C>G (p.Ser185Cys)
c.445-7128C>G (n.445-7128C>G)
3g.4418106G>TCA351632754SUMF1c.629C>A (p.Ser210Tyr)
c.554C>A (p.Ser185Tyr)
c.445-7128C>A (n.445-7128C>A)
3g.4418107A>CCA351632755SUMF1c.628T>G (p.Ser210Ala)
c.553T>G (p.Ser185Ala)
c.445-7129T>G (n.445-7129T>G)
3g.4418107A>GCA351632756SUMF1c.628T>C (p.Ser210Pro)
c.553T>C (p.Ser185Pro)
c.445-7129T>C (n.445-7129T>C)
3g.4418107A>TCA351632757SUMF1c.628T>A (p.Ser210Thr)
c.553T>A (p.Ser185Thr)
c.445-7129T>A (n.445-7129T>A)
3g.4418108C>ACA432314084SUMF1c.627G>T (p.Val209=)
c.552G>T (p.Val184=)
c.445-7130G>T (n.445-7130G>T)
3g.4418108C=CA1342154338SUMF1c.627G= (p.Val209=)
c.552G= (p.Val184=)
c.445-7130G= (n.445-7130G=)
3g.4418108C>GCA432314087SUMF1c.627G>C (p.Val209=)
c.552G>C (p.Val184=)
c.445-7130G>C (n.445-7130G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.4418108C>TCA2230514SUMF1c.627G>A (p.Val209=)
c.552G>A (p.Val184=)
c.445-7130G>A (n.445-7130G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418109A=CA1342154346SUMF1c.626T= (p.Val209=)
c.551T= (p.Val184=)
c.445-7131T= (n.445-7131T=)
3g.4418109A>CCA351632758SUMF1c.626T>G (p.Val209Gly)
c.551T>G (p.Val184Gly)
c.445-7131T>G (n.445-7131T>G)
3g.4418109A>GCA2230515SUMF1c.626T>C (p.Val209Ala)
c.551T>C (p.Val184Ala)
c.445-7131T>C (n.445-7131T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418109A>TCA351632759SUMF1c.626T>A (p.Val209Glu)
c.551T>A (p.Val184Glu)
c.445-7131T>A (n.445-7131T>A)
3g.4418110C>ACA351632761SUMF1c.625G>T (p.Val209Leu)
c.550G>T (p.Val184Leu)
c.445-7132G>T (n.445-7132G>T)
 dbSNP
3g.4418110C=CA1342154349SUMF1c.625G= (p.Val209=)
c.550G= (p.Val184=)
c.445-7132G= (n.445-7132G=)
3g.4418110C>GCA351632762SUMF1c.625G>C (p.Val209Leu)
c.550G>C (p.Val184Leu)
c.445-7132G>C (n.445-7132G>C)
3g.4418110C>TCA351632760SUMF1c.625G>A (p.Val209Met)
c.550G>A (p.Val184Met)
c.445-7132G>A (n.445-7132G>A)
3g.4418111A=CA1342154353SUMF1c.624T= (p.His208=)
c.549T= (p.His183=)
c.445-7133T= (n.445-7133T=)
3g.4418111A>CCA351632763SUMF1c.624T>G (p.His208Gln)
c.549T>G (p.His183Gln)
c.445-7133T>G (n.445-7133T>G)
3g.4418111A>GCA2230516SUMF1c.624T>C (p.His208=)
c.549T>C (p.His183=)
c.445-7133T>C (n.445-7133T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418111A>TCA351632764SUMF1c.624T>A (p.His208Gln)
c.549T>A (p.His183Gln)
c.445-7133T>A (n.445-7133T>A)
3g.4418111_4418119delinsATGGAGAACCA1342154352SUMF1c.616_624delinsGTTCTCCAT (p.Val206=)
c.541_549delinsGTTCTCCAT (p.Val181=)
c.445-7141_445-7133delinsGTTCTCCAT (n.445-7141_445-7133delinsGTTCTCCAT)
3g.4418112T>ACA351632765SUMF1c.623A>T (p.His208Leu)
c.548A>T (p.His183Leu)
c.445-7134A>T (n.445-7134A>T)
3g.4418112T>CCA351632766SUMF1c.623A>G (p.His208Arg)
c.548A>G (p.His183Arg)
c.445-7134A>G (n.445-7134A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.4418112T>GCA351632767SUMF1c.623A>C (p.His208Pro)
c.548A>C (p.His183Pro)
c.445-7134A>C (n.445-7134A>C)
 gnomAD v4
3g.4418112T=CA1342154358SUMF1c.623A= (p.His208=)
c.548A= (p.His183=)
c.445-7134A= (n.445-7134A=)
3g.4418116_4418123delCA2230517SUMF1c.616_623del (p.Val206CysfsTer5)
c.541_548del (p.Val181CysfsTer5)
c.445-7141_445-7134del (n.445-7141_445-7134del)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
3g.4418113G>ACA351632768SUMF1c.622C>T (p.His208Tyr)
c.547C>T (p.His183Tyr)
c.445-7135C>T (n.445-7135C>T)
 COSMIC COSMIC
3g.4418113G>CCA351632769SUMF1c.622C>G (p.His208Asp)
c.547C>G (p.His183Asp)
c.445-7135C>G (n.445-7135C>G)
3g.4418113G>TCA351632770SUMF1c.622C>A (p.His208Asn)
c.547C>A (p.His183Asn)
c.445-7135C>A (n.445-7135C>A)
3g.4418114G>ACA432314134SUMF1c.621C>T (p.Leu207=)
c.546C>T (p.Leu182=)
c.445-7136C>T (n.445-7136C>T)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
3g.4418114G>CCA2230518SUMF1c.621C>G (p.Leu207=)
c.546C>G (p.Leu182=)
c.445-7136C>G (n.445-7136C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418114G=CA1342154361SUMF1c.621C= (p.Leu207=)
c.546C= (p.Leu182=)
c.445-7136C= (n.445-7136C=)
3g.4418114G>TCA432314133SUMF1c.621C>A (p.Leu207=)
c.546C>A (p.Leu182=)
c.445-7136C>A (n.445-7136C>A)
3g.4418115A>CCA351632771SUMF1c.620T>G (p.Leu207Arg)
c.545T>G (p.Leu182Arg)
c.445-7137T>G (n.445-7137T>G)
3g.4418115A>GCA351632772SUMF1c.620T>C (p.Leu207Pro)
c.545T>C (p.Leu182Pro)
c.445-7137T>C (n.445-7137T>C)
3g.4418115A>TCA351632773SUMF1c.620T>A (p.Leu207His)
c.545T>A (p.Leu182His)
c.445-7137T>A (n.445-7137T>A)
3g.4418116G>ACA351632776SUMF1c.619C>T (p.Leu207Phe)
c.544C>T (p.Leu182Phe)
c.445-7138C>T (n.445-7138C>T)
3g.4418116G>CCA351632775SUMF1c.619C>G (p.Leu207Val)
c.544C>G (p.Leu182Val)
c.445-7138C>G (n.445-7138C>G)
3g.4418116G=CA1342154364SUMF1c.619C= (p.Leu207=)
c.544C= (p.Leu182=)
c.445-7138C= (n.445-7138C=)
3g.4418116G>TCA351632774SUMF1c.619C>A (p.Leu207Ile)
c.544C>A (p.Leu182Ile)
c.445-7138C>A (n.445-7138C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.4418117A>CCA432314147SUMF1c.618T>G (p.Val206=)
c.543T>G (p.Val181=)
c.445-7139T>G (n.445-7139T>G)
3g.4418117A>GCA432314149SUMF1c.618T>C (p.Val206=)
c.543T>C (p.Val181=)
c.445-7139T>C (n.445-7139T>C)
3g.4418117A>TCA432314152SUMF1c.618T>A (p.Val206=)
c.543T>A (p.Val181=)
c.445-7139T>A (n.445-7139T>A)
3g.4418118A>CCA351632777SUMF1c.617T>G (p.Val206Gly)
c.542T>G (p.Val181Gly)
c.445-7140T>G (n.445-7140T>G)
3g.4418118A>GCA351632778SUMF1c.617T>C (p.Val206Ala)
c.542T>C (p.Val181Ala)
c.445-7140T>C (n.445-7140T>C)
3g.4418118A>TCA351632779SUMF1c.617T>A (p.Val206Asp)
c.542T>A (p.Val181Asp)
c.445-7140T>A (n.445-7140T>A)
3g.4418119C>ACA351632780SUMF1c.616G>T (p.Val206Phe)
c.541G>T (p.Val181Phe)
c.445-7141G>T (n.445-7141G>T)
3g.4418119C=CA1342154366SUMF1c.616G= (p.Val206=)
c.541G= (p.Val181=)
c.445-7141G= (n.445-7141G=)
3g.4418119C>GCA351632781SUMF1c.616G>C (p.Val206Leu)
c.541G>C (p.Val181Leu)
c.445-7141G>C (n.445-7141G>C)
3g.4418119C>TCA351632782SUMF1c.616G>A (p.Val206Ile)
c.541G>A (p.Val181Ile)
c.445-7141G>A (n.445-7141G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.4418120T>ACA432314173SUMF1c.615A>T (p.Pro205=)
c.540A>T (p.Pro180=)
c.445-7142A>T (n.445-7142A>T)
3g.4418120T>CCA432314175SUMF1c.615A>G (p.Pro205=)
c.540A>G (p.Pro180=)
c.445-7142A>G (n.445-7142A>G)
3g.4418120T>GCA432314178SUMF1c.615A>C (p.Pro205=)
c.540A>C (p.Pro180=)
c.445-7142A>C (n.445-7142A>C)
3g.4418121G>ACA351632783SUMF1c.614C>T (p.Pro205Leu)
c.539C>T (p.Pro180Leu)
c.445-7143C>T (n.445-7143C>T)
3g.4418121G>CCA351632784SUMF1c.614C>G (p.Pro205Arg)
c.539C>G (p.Pro180Arg)
c.445-7143C>G (n.445-7143C>G)
 dbSNP
3g.4418121G=CA1342154368SUMF1c.614C= (p.Pro205=)
c.539C= (p.Pro180=)
c.445-7143C= (n.445-7143C=)
3g.4418121G>TCA351632785SUMF1c.614C>A (p.Pro205Gln)
c.539C>A (p.Pro180Gln)
c.445-7143C>A (n.445-7143C>A)
3g.4418122G>ACA351632786SUMF1c.613C>T (p.Pro205Ser)
c.538C>T (p.Pro180Ser)
c.445-7144C>T (n.445-7144C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.4418122G>CCA351632787SUMF1c.613C>G (p.Pro205Ala)
c.538C>G (p.Pro180Ala)
c.445-7144C>G (n.445-7144C>G)
 gnomAD v4
3g.4418122G=CA1342154372SUMF1c.613C= (p.Pro205=)
c.538C= (p.Pro180=)
c.445-7144C= (n.445-7144C=)
3g.4418122G>TCA351632788SUMF1c.613C>A (p.Pro205Thr)
c.538C>A (p.Pro180Thr)
c.445-7144C>A (n.445-7144C>A)
3g.4418123A=CA1342154374SUMF1c.612T= (p.His204=)
c.537T= (p.His179=)
c.445-7145T= (n.445-7145T=)
3g.4418123A>CCA351632789SUMF1c.612T>G (p.His204Gln)
c.537T>G (p.His179Gln)
c.445-7145T>G (n.445-7145T>G)
3g.4418123A>GCA68802919SUMF1c.612T>C (p.His204=)
c.537T>C (p.His179=)
c.445-7145T>C (n.445-7145T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.4418123A>TCA351632790SUMF1c.612T>A (p.His204Gln)
c.537T>A (p.His179Gln)
c.445-7145T>A (n.445-7145T>A)
3g.4418124T>ACA351632791SUMF1c.611A>T (p.His204Leu)
c.536A>T (p.His179Leu)
c.445-7146A>T (n.445-7146A>T)
3g.4418124T>CCA351632793SUMF1c.611A>G (p.His204Arg)
c.536A>G (p.His179Arg)
c.445-7146A>G (n.445-7146A>G)
3g.4418124T>GCA351632792SUMF1c.611A>C (p.His204Pro)
c.536A>C (p.His179Pro)
c.445-7146A>C (n.445-7146A>C)
3g.4418125G>ACA351632794SUMF1c.610C>T (p.His204Tyr)
c.535C>T (p.His179Tyr)
c.445-7147C>T (n.445-7147C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.4418125G>CCA351632796SUMF1c.610C>G (p.His204Asp)
c.535C>G (p.His179Asp)
c.445-7147C>G (n.445-7147C>G)
3g.4418125G=CA1342154378SUMF1c.610C= (p.His204=)
c.535C= (p.His179=)
c.445-7147C= (n.445-7147C=)
3g.4418125G>TCA351632795SUMF1c.610C>A (p.His204Asn)
c.535C>A (p.His179Asn)
c.445-7147C>A (n.445-7147C>A)
3g.4418126A>CCA351632797SUMF1c.609T>G (p.Asp203Glu)
c.534T>G (p.Asp178Glu)
c.445-7148T>G (n.445-7148T>G)
3g.4418126A>GCA432314239SUMF1c.609T>C (p.Asp203=)
c.534T>C (p.Asp178=)
c.445-7148T>C (n.445-7148T>C)
3g.4418126A>TCA351632798SUMF1c.609T>A (p.Asp203Glu)
c.534T>A (p.Asp178Glu)
c.445-7148T>A (n.445-7148T>A)
3g.4418126_4418127delCA2664206518SUMF1c.608_609del (p.Asp203AlafsTer10)
c.533_534del (p.Asp178AlafsTer10)
c.445-7149_445-7148del (n.445-7149_445-7148del)
 gnomAD v4
3g.4418127T>ACA351632799SUMF1c.608A>T (p.Asp203Val)
c.533A>T (p.Asp178Val)
c.445-7149A>T (n.445-7149A>T)
3g.4418127T>CCA351632801SUMF1c.608A>G (p.Asp203Gly)
c.533A>G (p.Asp178Gly)
c.445-7149A>G (n.445-7149A>G)
3g.4418127T>GCA351632800SUMF1c.608A>C (p.Asp203Ala)
c.533A>C (p.Asp178Ala)
c.445-7149A>C (n.445-7149A>C)
3g.4418128C>ACA351632802SUMF1c.607G>T (p.Asp203Tyr)
c.532G>T (p.Asp178Tyr)
c.445-7150G>T (n.445-7150G>T)
3g.4418128C=CA1342154381SUMF1c.607G= (p.Asp203=)
c.532G= (p.Asp178=)
c.445-7150G= (n.445-7150G=)
3g.4418128C>GCA2230519SUMF1c.607G>C (p.Asp203His)
c.532G>C (p.Asp178His)
c.445-7150G>C (n.445-7150G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418128C>TCA351632803SUMF1c.607G>A (p.Asp203Asn)
c.532G>A (p.Asp178Asn)
c.445-7150G>A (n.445-7150G>A)
3g.4418129C>ACA432314260SUMF1c.606G>T (p.Pro202=)
c.531G>T (p.Pro177=)
c.445-7151G>T (n.445-7151G>T)
3g.4418129C=CA1342154384SUMF1c.606G= (p.Pro202=)
c.531G= (p.Pro177=)
c.445-7151G= (n.445-7151G=)
3g.4418129C>GCA432314256SUMF1c.606G>C (p.Pro202=)
c.531G>C (p.Pro177=)
c.445-7151G>C (n.445-7151G>C)
3g.4418129C>TCA2230520SUMF1c.606G>A (p.Pro202=)
c.531G>A (p.Pro177=)
c.445-7151G>A (n.445-7151G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418130G>ACA2230521SUMF1c.605C>T (p.Pro202Leu)
c.530C>T (p.Pro177Leu)
c.445-7152C>T (n.445-7152C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418130G>CCA351632804SUMF1c.605C>G (p.Pro202Arg)
c.530C>G (p.Pro177Arg)
c.445-7152C>G (n.445-7152C>G)
3g.4418130G=CA1342154388SUMF1c.605C= (p.Pro202=)
c.530C= (p.Pro177=)
c.445-7152C= (n.445-7152C=)
3g.4418130G>TCA2230522SUMF1c.605C>A (p.Pro202Gln)
c.530C>A (p.Pro177Gln)
c.445-7152C>A (n.445-7152C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418131G>ACA351632805SUMF1c.604C>T (p.Pro202Ser)
c.529C>T (p.Pro177Ser)
c.445-7153C>T (n.445-7153C>T)
3g.4418131G>CCA351632806SUMF1c.604C>G (p.Pro202Ala)
c.529C>G (p.Pro177Ala)
c.445-7153C>G (n.445-7153C>G)
 dbSNP gnomAD v2
3g.4418131G=CA1342154394SUMF1c.604C= (p.Pro202=)
c.529C= (p.Pro177=)
c.445-7153C= (n.445-7153C=)
3g.4418131G>TCA351632807SUMF1c.604C>A (p.Pro202Thr)
c.529C>A (p.Pro177Thr)
c.445-7153C>A (n.445-7153C>A)
3g.4418132C>ACA351632808SUMF1c.603G>T (p.Arg201Ser)
c.528G>T (p.Arg176Ser)
c.445-7154G>T (n.445-7154G>T)
3g.4418132C>GCA351632809SUMF1c.603G>C (p.Arg201Ser)
c.528G>C (p.Arg176Ser)
c.445-7154G>C (n.445-7154G>C)
3g.4418132C>TCA432314289SUMF1c.603G>A (p.Arg201=)
c.528G>A (p.Arg176=)
c.445-7154G>A (n.445-7154G>A)
 gnomAD v4
3g.4418133C>ACA351632812SUMF1c.603-1G>T (n.603-1G>T)
c.528-1G>T (n.528-1G>T)
c.445-7155G>T (n.445-7155G>T)
3g.4418133C>GCA351632810SUMF1c.603-1G>C (n.603-1G>C)
c.528-1G>C (n.528-1G>C)
c.445-7155G>C (n.445-7155G>C)
 ClinVar dbSNP
3g.4418133C>TCA351632811SUMF1c.603-1G>A (n.603-1G>A)
c.528-1G>A (n.528-1G>A)
c.445-7155G>A (n.445-7155G>A)
3g.4418133_4418134delinsCTCA1342154397SUMF1c.603-2_603-1delinsAG (n.603-2_603-1delinsAG)
c.528-2_528-1delinsAG (n.528-2_528-1delinsAG)
c.445-7156_445-7155delinsAG (n.445-7156_445-7155delinsAG)
3g.4418134delCA2230523SUMF1c.603-2del (n.603-2del)
c.528-2del (n.528-2del)
c.445-7156del (n.445-7156del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418134T>ACA351632813SUMF1c.603-2A>T (n.603-2A>T)
c.528-2A>T (n.528-2A>T)
c.445-7156A>T (n.445-7156A>T)
 ClinVar dbSNP
3g.4418134T>CCA351632814SUMF1c.603-2A>G (n.603-2A>G)
c.528-2A>G (n.528-2A>G)
c.445-7156A>G (n.445-7156A>G)
 gnomAD v4
3g.4418134T>GCA351632815SUMF1c.603-2A>C (n.603-2A>C)
c.528-2A>C (n.528-2A>C)
c.445-7156A>C (n.445-7156A>C)
3g.4418135G>ACA2664206519SUMF1c.603-3C>T (n.603-3C>T)
c.528-3C>T (n.528-3C>T)
c.445-7157C>T (n.445-7157C>T)
 gnomAD v4
3g.4418136G>ACA2755048866SUMF1c.603-4C>T (n.603-4C>T)
c.528-4C>T (n.528-4C>T)
c.445-7158C>T (n.445-7158C>T)
3g.4418136G>CCA2697550633SUMF1c.603-4C>G (n.603-4C>G)
c.528-4C>G (n.528-4C>G)
c.445-7158C>G (n.445-7158C>G)
 ClinVar
3g.4418137G>ACA2499216788SUMF1c.603-5C>T (n.603-5C>T)
c.528-5C>T (n.528-5C>T)
c.445-7159C>T (n.445-7159C>T)
 ClinVar dbSNP
3g.4418137G>CCA2580069171SUMF1c.603-5C>G (n.603-5C>G)
c.528-5C>G (n.528-5C>G)
c.445-7159C>G (n.445-7159C>G)
 ClinVar gnomAD v4
3g.4418137G=CA1342154401SUMF1c.603-5C= (n.603-5C=)
c.528-5C= (n.528-5C=)
c.445-7159C= (n.445-7159C=)
3g.4418137G>TCA2230524SUMF1c.603-5C>A (n.603-5C>A)
c.528-5C>A (n.528-5C>A)
c.445-7159C>A (n.445-7159C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418141G>ACA2499216789SUMF1c.603-9C>T (n.603-9C>T)
c.528-9C>T (n.528-9C>T)
c.445-7163C>T (n.445-7163C>T)
 ClinVar dbSNP
3g.4418141G>CCA1342154404SUMF1c.603-9C>G (n.603-9C>G)
c.528-9C>G (n.528-9C>G)
c.445-7163C>G (n.445-7163C>G)
 dbSNP
3g.4418141G=CA1342154403SUMF1c.603-9C= (n.603-9C=)
c.528-9C= (n.528-9C=)
c.445-7163C= (n.445-7163C=)
3g.4418141G>TCA2580069174SUMF1c.603-9C>A (n.603-9C>A)
c.528-9C>A (n.528-9C>A)
c.445-7163C>A (n.445-7163C>A)
 ClinVar
3g.4418142A=CA1342154406SUMF1c.603-10T= (n.603-10T=)
c.528-10T= (n.528-10T=)
c.445-7164T= (n.445-7164T=)
3g.4418142A>CCA2230525SUMF1c.603-10T>G (n.603-10T>G)
c.528-10T>G (n.528-10T>G)
c.445-7164T>G (n.445-7164T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418142A>GCA2664206520SUMF1c.603-10T>C (n.603-10T>C)
c.528-10T>C (n.528-10T>C)
c.445-7164T>C (n.445-7164T>C)
 ClinVar gnomAD v4
3g.4418143G>CCA2573136907SUMF1c.603-11C>G (n.603-11C>G)
c.528-11C>G (n.528-11C>G)
c.445-7165C>G (n.445-7165C>G)
 ClinVar dbSNP gnomAD v4
3g.4418144C>TCA2664206521SUMF1c.603-12G>A (n.603-12G>A)
c.528-12G>A (n.528-12G>A)
c.445-7166G>A (n.445-7166G>A)
 ClinVar gnomAD v4
3g.4418146A>GCA2577493085SUMF1c.603-14T>C (n.603-14T>C)
c.528-14T>C (n.528-14T>C)
c.445-7168T>C (n.445-7168T>C)
3g.4418147A>CCA2580069175SUMF1c.603-15T>G (n.603-15T>G)
c.528-15T>G (n.528-15T>G)
c.445-7169T>G (n.445-7169T>G)
 ClinVar
3g.4418148A=CA1342154409SUMF1c.603-16T= (n.603-16T=)
c.528-16T= (n.528-16T=)
c.445-7170T= (n.445-7170T=)
3g.4418148A>CCA907351139SUMF1c.603-16T>G (n.603-16T>G)
c.528-16T>G (n.528-16T>G)
c.445-7170T>G (n.445-7170T>G)
 dbSNP
3g.4418149G>ACA2664206522SUMF1c.603-17C>T (n.603-17C>T)
c.528-17C>T (n.528-17C>T)
c.445-7171C>T (n.445-7171C>T)
 gnomAD v4
3g.4418150T>CCA540800723SUMF1c.603-18A>G (n.603-18A>G)
c.528-18A>G (n.528-18A>G)
c.445-7172A>G (n.445-7172A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.4418150T=CA1342154411SUMF1c.603-18A= (n.603-18A=)
c.528-18A= (n.528-18A=)
c.445-7172A= (n.445-7172A=)
3g.4418152G>ACA1342154414SUMF1c.603-20C>T (n.603-20C>T)
c.528-20C>T (n.528-20C>T)
c.445-7174C>T (n.445-7174C>T)
 ClinVar dbSNP gnomAD v4
3g.4418152G=CA1342154416SUMF1c.603-20C= (n.603-20C=)
c.528-20C= (n.528-20C=)
c.445-7174C= (n.445-7174C=)
3g.4418152G>TCA2740096689SUMF1c.603-20C>A (n.603-20C>A)
c.528-20C>A (n.528-20C>A)
c.445-7174C>A (n.445-7174C>A)
 ClinVar
3g.4418153A=CA1342154419SUMF1c.603-21T= (n.603-21T=)
c.528-21T= (n.528-21T=)
c.445-7175T= (n.445-7175T=)
3g.4418153A>CCA2230526SUMF1c.603-21T>G (n.603-21T>G)
c.528-21T>G (n.528-21T>G)
c.445-7175T>G (n.445-7175T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418153A>GCA2664206523SUMF1c.603-21T>C (n.603-21T>C)
c.528-21T>C (n.528-21T>C)
c.445-7175T>C (n.445-7175T>C)
 gnomAD v4
3g.4418155T>ACA2701954080SUMF1c.603-23A>T (n.603-23A>T)
c.528-23A>T (n.528-23A>T)
c.445-7177A>T (n.445-7177A>T)
 dbSNP
3g.4418155T>CCA540800727SUMF1c.603-23A>G (n.603-23A>G)
c.528-23A>G (n.528-23A>G)
c.445-7177A>G (n.445-7177A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.4418155T=CA1342154422SUMF1c.603-23A= (n.603-23A=)
c.528-23A= (n.528-23A=)
c.445-7177A= (n.445-7177A=)
3g.4418156G>TCA2664206524SUMF1c.603-24C>A (n.603-24C>A)
c.528-24C>A (n.528-24C>A)
c.445-7178C>A (n.445-7178C>A)
 gnomAD v4

Number of alleles fetched