Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.70642686G>ACA439943361ENAMc.1260G>A (p.Leu420=)
n.99+4843G>A
c.606G>A (p.Leu202=)
4g.70642686G>CCA439943363ENAMc.1260G>C (p.Leu420=)
n.99+4843G>C
c.606G>C (p.Leu202=)
4g.70642686G>TCA439943366ENAMc.1260G>T (p.Leu420=)
n.99+4843G>T
c.606G>T (p.Leu202=)
4g.70642687G>ACA357140291ENAMc.1261G>A (p.Gly421Ser)
n.99+4844G>A
c.607G>A (p.Gly203Ser)
gnomAD v4
4g.70642687G>CCA357140293ENAMc.1261G>C (p.Gly421Arg)
n.99+4844G>C
c.607G>C (p.Gly203Arg)
4g.70642687G>TCA357140295ENAMc.1261G>T (p.Gly421Cys)
n.99+4844G>T
c.607G>T (p.Gly203Cys)
4g.70642688G>ACA357140298ENAMc.1262G>A (p.Gly421Asp)
n.99+4845G>A
c.608G>A (p.Gly203Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.70642688G>CCA357140300ENAMc.1262G>C (p.Gly421Ala)
n.99+4845G>C
c.608G>C (p.Gly203Ala)
4g.70642688G=CA1466851446ENAMc.1262G= (p.Gly421=)
n.99+4845G=
c.608G= (p.Gly203=)
4g.70642688G>TCA357140301ENAMc.1262G>T (p.Gly421Val)
n.99+4845G>T
c.608G>T (p.Gly203Val)
4g.70642689T>ACA439943378ENAMc.1263T>A (p.Gly421=)
n.99+4846T>A
c.609T>A (p.Gly203=)
4g.70642689T>CCA439943376ENAMc.1263T>C (p.Gly421=)
n.99+4846T>C
c.609T>C (p.Gly203=)
4g.70642689T>GCA439943377ENAMc.1263T>G (p.Gly421=)
n.99+4846T>G
c.609T>G (p.Gly203=)
4g.70642690C>ACA357140306ENAMc.1264C>A (p.Pro422Thr)
n.99+4847C>A
c.610C>A (p.Pro204Thr)
4g.70642690C=CA1466851456ENAMc.1264C= (p.Pro422=)
n.99+4847C=
c.610C= (p.Pro204=)
4g.70642690C>GCA357140309ENAMc.1264C>G (p.Pro422Ala)
n.99+4847C>G
c.610C>G (p.Pro204Ala)
4g.70642690C>TCA357140305ENAMc.1264C>T (p.Pro422Ser)
n.99+4847C>T
c.610C>T (p.Pro204Ser)
dbSNP gnomAD v3 gnomAD v4
4g.70642691C>ACA357140312ENAMc.1265C>A (p.Pro422His)
n.99+4848C>A
c.611C>A (p.Pro204His)
gnomAD v4
4g.70642691C=CA1466851463ENAMc.1265C= (p.Pro422=)
n.99+4848C=
c.611C= (p.Pro204=)
4g.70642691C>GCA2952099ENAMc.1265C>G (p.Pro422Arg)
n.99+4848C>G
c.611C>G (p.Pro204Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.70642691C>TCA357140315ENAMc.1265C>T (p.Pro422Leu)
n.99+4848C>T
c.611C>T (p.Pro204Leu)
dbSNP gnomAD v3 gnomAD v4
4g.70642692C>ACA439943388ENAMc.1266C>A (p.Pro422=)
n.99+4849C>A
c.612C>A (p.Pro204=)
4g.70642692C>GCA439943389ENAMc.1266C>G (p.Pro422=)
n.99+4849C>G
c.612C>G (p.Pro204=)
4g.70642692C>TCA439943391ENAMc.1266C>T (p.Pro422=)
n.99+4849C>T
c.612C>T (p.Pro204=)
4g.70642693A>CCA357140318ENAMc.1267A>C (p.Lys423Gln)
n.99+4850A>C
c.613A>C (p.Lys205Gln)
4g.70642693A>GCA357140320ENAMc.1267A>G (p.Lys423Glu)
n.99+4850A>G
c.613A>G (p.Lys205Glu)
4g.70642693A>TCA357140322ENAMc.1267A>T (p.Lys423Ter)
n.99+4850A>T
c.613A>T (p.Lys205Ter)
4g.70642695delCA2670908142ENAMc.1269del (p.Lys423AsnfsTer25)
n.99+4852del
c.615del (p.Lys205AsnfsTer25)
gnomAD v4
4g.70642694A=CA1466851468ENAMc.1268A= (p.Lys423=)
n.99+4851A=
c.614A= (p.Lys205=)
4g.70642694A>CCA357140328ENAMc.1268A>C (p.Lys423Thr)
n.99+4851A>C
c.614A>C (p.Lys205Thr)
4g.70642694A>GCA2952100ENAMc.1268A>G (p.Lys423Arg)
n.99+4851A>G
c.614A>G (p.Lys205Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.70642694A>TCA357140326ENAMc.1268A>T (p.Lys423Ile)
n.99+4851A>T
c.614A>T (p.Lys205Ile)
dbSNP gnomAD v2 gnomAD v4
4g.70642695A>CCA357140331ENAMc.1269A>C (p.Lys423Asn)
n.99+4852A>C
c.615A>C (p.Lys205Asn)
4g.70642695A>GCA439943404ENAMc.1269A>G (p.Lys423=)
n.99+4852A>G
c.615A>G (p.Lys205=)
4g.70642695A>TCA357140332ENAMc.1269A>T (p.Lys423Asn)
n.99+4852A>T
c.615A>T (p.Lys205Asn)
4g.70642696C>ACA357140336ENAMc.1270C>A (p.Pro424Thr)
n.99+4853C>A
c.616C>A (p.Pro206Thr)
4g.70642696C>GCA357140337ENAMc.1270C>G (p.Pro424Ala)
n.99+4853C>G
c.616C>G (p.Pro206Ala)
4g.70642696C>TCA357140339ENAMc.1270C>T (p.Pro424Ser)
n.99+4853C>T
c.616C>T (p.Pro206Ser)
4g.70642697C>ACA357140341ENAMc.1271C>A (p.Pro424His)
n.99+4854C>A
c.617C>A (p.Pro206His)
4g.70642697C>GCA357140345ENAMc.1271C>G (p.Pro424Arg)
n.99+4854C>G
c.617C>G (p.Pro206Arg)
4g.70642697C>TCA357140343ENAMc.1271C>T (p.Pro424Leu)
n.99+4854C>T
c.617C>T (p.Pro206Leu)
COSMIC
4g.70642698T>ACA439943414ENAMc.1272T>A (p.Pro424=)
n.99+4855T>A
c.618T>A (p.Pro206=)
4g.70642698T>CCA439943415ENAMc.1272T>C (p.Pro424=)
n.99+4855T>C
c.618T>C (p.Pro206=)
4g.70642698T>GCA439943417ENAMc.1272T>G (p.Pro424=)
n.99+4855T>G
c.618T>G (p.Pro206=)
4g.70642699G>ACA357140346ENAMc.1273G>A (p.Gly425Ser)
n.99+4856G>A
c.619G>A (p.Gly207Ser)
4g.70642699G>CCA357140348ENAMc.1273G>C (p.Gly425Arg)
n.99+4856G>C
c.619G>C (p.Gly207Arg)
4g.70642699G>TCA357140351ENAMc.1273G>T (p.Gly425Cys)
n.99+4856G>T
c.619G>T (p.Gly207Cys)
4g.70642700G>ACA357140354ENAMc.1274G>A (p.Gly425Asp)
n.99+4857G>A
c.620G>A (p.Gly207Asp)
gnomAD v4
4g.70642700G>CCA357140356ENAMc.1274G>C (p.Gly425Ala)
n.99+4857G>C
c.620G>C (p.Gly207Ala)
4g.70642700G>TCA357140357ENAMc.1274G>T (p.Gly425Val)
n.99+4857G>T
c.620G>T (p.Gly207Val)

Number of alleles fetched