Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125481563G>ACA3074164FAT4c.12647G>A (p.Arg4216His)
c.7418G>A (p.Arg2473His)
c.7364G>A (p.Arg2455His)
c.12641G>A (p.Arg4214His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125481563G>CCA358132485FAT4c.12647G>C (p.Arg4216Pro)
c.7418G>C (p.Arg2473Pro)
c.7364G>C (p.Arg2455Pro)
c.12641G>C (p.Arg4214Pro)
4g.125481563G=CA1491668594FAT4c.12647G= (p.Arg4216=)
c.7418G= (p.Arg2473=)
c.7364G= (p.Arg2455=)
c.12641G= (p.Arg4214=)
4g.125481563G>TCA358132486FAT4c.12647G>T (p.Arg4216Leu)
c.7418G>T (p.Arg2473Leu)
c.7364G>T (p.Arg2455Leu)
c.12641G>T (p.Arg4214Leu)
4g.125481564C>ACA441204523FAT4c.12648C>A (p.Arg4216=)
c.7419C>A (p.Arg2473=)
c.7365C>A (p.Arg2455=)
c.12642C>A (p.Arg4214=)
4g.125481564C>GCA441204524FAT4c.12648C>G (p.Arg4216=)
c.7419C>G (p.Arg2473=)
c.7365C>G (p.Arg2455=)
c.12642C>G (p.Arg4214=)
4g.125481564C>TCA441204525FAT4c.12648C>T (p.Arg4216=)
c.7419C>T (p.Arg2473=)
c.7365C>T (p.Arg2455=)
c.12642C>T (p.Arg4214=)
4g.125481565T>ACA358132487FAT4c.12649T>A (p.Leu4217Met)
c.7420T>A (p.Leu2474Met)
c.7366T>A (p.Leu2456Met)
c.12643T>A (p.Leu4215Met)
4g.125481565T>CCA441204526FAT4c.12649T>C (p.Leu4217=)
c.7420T>C (p.Leu2474=)
c.7366T>C (p.Leu2456=)
c.12643T>C (p.Leu4215=)
gnomAD v4
4g.125481565T>GCA358132488FAT4c.12649T>G (p.Leu4217Val)
c.7420T>G (p.Leu2474Val)
c.7366T>G (p.Leu2456Val)
c.12643T>G (p.Leu4215Val)
dbSNP gnomAD v4
4g.125481566T>ACA358132489FAT4c.12650T>A (p.Leu4217Ter)
c.7421T>A (p.Leu2474Ter)
c.7367T>A (p.Leu2456Ter)
c.12644T>A (p.Leu4215Ter)
4g.125481566T>CCA358132490FAT4c.12650T>C (p.Leu4217Ser)
c.7421T>C (p.Leu2474Ser)
c.7367T>C (p.Leu2456Ser)
c.12644T>C (p.Leu4215Ser)
4g.125481566T>GCA358132491FAT4c.12650T>G (p.Leu4217Trp)
c.7421T>G (p.Leu2474Trp)
c.7367T>G (p.Leu2456Trp)
c.12644T>G (p.Leu4215Trp)
4g.125481567G>ACA441204527FAT4c.12651G>A (p.Leu4217=)
c.7422G>A (p.Leu2474=)
c.7368G>A (p.Leu2456=)
c.12645G>A (p.Leu4215=)
4g.125481567G>CCA358132492FAT4c.12651G>C (p.Leu4217Phe)
c.7422G>C (p.Leu2474Phe)
c.7368G>C (p.Leu2456Phe)
c.12645G>C (p.Leu4215Phe)
4g.125481567G>TCA358132493FAT4c.12651G>T (p.Leu4217Phe)
c.7422G>T (p.Leu2474Phe)
c.7368G>T (p.Leu2456Phe)
c.12645G>T (p.Leu4215Phe)
COSMIC COSMIC COSMIC
4g.125481568G>ACA358132494FAT4c.12652G>A (p.Asp4218Asn)
c.7423G>A (p.Asp2475Asn)
c.7369G>A (p.Asp2457Asn)
c.12646G>A (p.Asp4216Asn)
4g.125481568G>CCA358132495FAT4c.12652G>C (p.Asp4218His)
c.7423G>C (p.Asp2475His)
c.7369G>C (p.Asp2457His)
c.12646G>C (p.Asp4216His)
4g.125481568G>TCA358132496FAT4c.12652G>T (p.Asp4218Tyr)
c.7423G>T (p.Asp2475Tyr)
c.7369G>T (p.Asp2457Tyr)
c.12646G>T (p.Asp4216Tyr)
4g.125481569A>CCA358132498FAT4c.12653A>C (p.Asp4218Ala)
c.7424A>C (p.Asp2475Ala)
c.7370A>C (p.Asp2457Ala)
c.12647A>C (p.Asp4216Ala)
4g.125481569A>GCA358132499FAT4c.12653A>G (p.Asp4218Gly)
c.7424A>G (p.Asp2475Gly)
c.7370A>G (p.Asp2457Gly)
c.12647A>G (p.Asp4216Gly)
4g.125481569A>TCA358132497FAT4c.12653A>T (p.Asp4218Val)
c.7424A>T (p.Asp2475Val)
c.7370A>T (p.Asp2457Val)
c.12647A>T (p.Asp4216Val)
4g.125481570C>ACA358132500FAT4c.12654C>A (p.Asp4218Glu)
c.7425C>A (p.Asp2475Glu)
c.7371C>A (p.Asp2457Glu)
c.12648C>A (p.Asp4216Glu)
4g.125481570C>GCA358132501FAT4c.12654C>G (p.Asp4218Glu)
c.7425C>G (p.Asp2475Glu)
c.7371C>G (p.Asp2457Glu)
c.12648C>G (p.Asp4216Glu)
4g.125481570C>TCA441204528FAT4c.12654C>T (p.Asp4218=)
c.7425C>T (p.Asp2475=)
c.7371C>T (p.Asp2457=)
c.12648C>T (p.Asp4216=)
4g.125481571T>ACA358132502FAT4c.12655T>A (p.Tyr4219Asn)
c.7426T>A (p.Tyr2476Asn)
c.7372T>A (p.Tyr2458Asn)
c.12649T>A (p.Tyr4217Asn)
4g.125481571T>CCA358132503FAT4c.12655T>C (p.Tyr4219His)
c.7426T>C (p.Tyr2476His)
c.7372T>C (p.Tyr2458His)
c.12649T>C (p.Tyr4217His)
4g.125481571T>GCA358132504FAT4c.12655T>G (p.Tyr4219Asp)
c.7426T>G (p.Tyr2476Asp)
c.7372T>G (p.Tyr2458Asp)
c.12649T>G (p.Tyr4217Asp)
4g.125481572A=CA1491668599FAT4c.12656A= (p.Tyr4219=)
c.7427A= (p.Tyr2476=)
c.7373A= (p.Tyr2458=)
c.12650A= (p.Tyr4217=)
4g.125481572A>CCA358132505FAT4c.12656A>C (p.Tyr4219Ser)
c.7427A>C (p.Tyr2476Ser)
c.7373A>C (p.Tyr2458Ser)
c.12650A>C (p.Tyr4217Ser)
4g.125481572A>GCA358132506FAT4c.12656A>G (p.Tyr4219Cys)
c.7427A>G (p.Tyr2476Cys)
c.7373A>G (p.Tyr2458Cys)
c.12650A>G (p.Tyr4217Cys)
dbSNP
4g.125481572A>TCA358132507FAT4c.12656A>T (p.Tyr4219Phe)
c.7427A>T (p.Tyr2476Phe)
c.7373A>T (p.Tyr2458Phe)
c.12650A>T (p.Tyr4217Phe)
4g.125481573C>ACA358132508FAT4c.12657C>A (p.Tyr4219Ter)
c.7428C>A (p.Tyr2476Ter)
c.7374C>A (p.Tyr2458Ter)
c.12651C>A (p.Tyr4217Ter)
4g.125481573C=CA1491668603FAT4c.12657C= (p.Tyr4219=)
c.7428C= (p.Tyr2476=)
c.7374C= (p.Tyr2458=)
c.12651C= (p.Tyr4217=)
4g.125481573C>GCA358132509FAT4c.12657C>G (p.Tyr4219Ter)
c.7428C>G (p.Tyr2476Ter)
c.7374C>G (p.Tyr2458Ter)
c.12651C>G (p.Tyr4217Ter)
4g.125481573C>TCA441204529FAT4c.12657C>T (p.Tyr4219=)
c.7428C>T (p.Tyr2476=)
c.7374C>T (p.Tyr2458=)
c.12651C>T (p.Tyr4217=)
dbSNP gnomAD v2 gnomAD v4
4g.125481574C>ACA358132510FAT4c.12658C>A (p.His4220Asn)
c.7429C>A (p.His2477Asn)
c.7375C>A (p.His2459Asn)
c.12652C>A (p.His4218Asn)
4g.125481574C>GCA358132511FAT4c.12658C>G (p.His4220Asp)
c.7429C>G (p.His2477Asp)
c.7375C>G (p.His2459Asp)
c.12652C>G (p.His4218Asp)
4g.125481574C>TCA358132512FAT4c.12658C>T (p.His4220Tyr)
c.7429C>T (p.His2477Tyr)
c.7375C>T (p.His2459Tyr)
c.12652C>T (p.His4218Tyr)
4g.125481575A>CCA358132515FAT4c.12659A>C (p.His4220Pro)
c.7430A>C (p.His2477Pro)
c.7376A>C (p.His2459Pro)
c.12653A>C (p.His4218Pro)
4g.125481575A>GCA358132514FAT4c.12659A>G (p.His4220Arg)
c.7430A>G (p.His2477Arg)
c.7376A>G (p.His2459Arg)
c.12653A>G (p.His4218Arg)
4g.125481575A>TCA358132513FAT4c.12659A>T (p.His4220Leu)
c.7430A>T (p.His2477Leu)
c.7376A>T (p.His2459Leu)
c.12653A>T (p.His4218Leu)
4g.125481576C>ACA358132516FAT4c.12660C>A (p.His4220Gln)
c.7431C>A (p.His2477Gln)
c.7377C>A (p.His2459Gln)
c.12654C>A (p.His4218Gln)
4g.125481576C>GCA358132517FAT4c.12660C>G (p.His4220Gln)
c.7431C>G (p.His2477Gln)
c.7377C>G (p.His2459Gln)
c.12654C>G (p.His4218Gln)
4g.125481576C>TCA441204530FAT4c.12660C>T (p.His4220=)
c.7431C>T (p.His2477=)
c.7377C>T (p.His2459=)
c.12654C>T (p.His4218=)
4g.125481577A=CA1491668608FAT4c.12661A= (p.Met4221=)
c.7432A= (p.Met2478=)
c.7378A= (p.Met2460=)
c.12655A= (p.Met4219=)
4g.125481577A>CCA358132518FAT4c.12661A>C (p.Met4221Leu)
c.7432A>C (p.Met2478Leu)
c.7378A>C (p.Met2460Leu)
c.12655A>C (p.Met4219Leu)
gnomAD v4
4g.125481577A>GCA358132519FAT4c.12661A>G (p.Met4221Val)
c.7432A>G (p.Met2478Val)
c.7378A>G (p.Met2460Val)
c.12655A>G (p.Met4219Val)
dbSNP
4g.125481577A>TCA358132520FAT4c.12661A>T (p.Met4221Leu)
c.7432A>T (p.Met2478Leu)
c.7378A>T (p.Met2460Leu)
c.12655A>T (p.Met4219Leu)
gnomAD v4
4g.125481577_125481578delCA2672012550FAT4c.12661_12662del (p.Met4221GlufsTer4)
c.7432_7433del (p.Met2478GlufsTer4)
c.7378_7379del (p.Met2460GlufsTer4)
c.12655_12656del (p.Met4219GlufsTer4)
gnomAD v4

Number of alleles fetched