Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219418465_219418509delCA2663248423DESc.3_47del (p.Met1_Arg16delinsIle)
gnomAD v4
2g.219418466_219418517dupCA2663248413DESc.4_55dup (p.Gly19GlufsTer42)
gnomAD v4
2g.219418497C>ACA350682247DESc.35C>A (p.Ser12Tyr)
2g.219418497C=CA1329209813DESc.35C= (p.Ser12=)
2g.219418497C>GCA350682251DESc.35C>G (p.Ser12Cys)
2g.219418497C>TCA217069DESc.35C>T (p.Ser12Phe)
ClinVar dbSNP gnomAD v4
2g.219418498C>ACA431284019DESc.36C>A (p.Ser12=)
gnomAD v4
2g.219418498C>GCA431284020DESc.36C>G (p.Ser12=)
2g.219418498C>TCA431284021DESc.36C>T (p.Ser12=)
ClinVar gnomAD v4
2g.219418499_219419548delCA1139655693DESc.37_578+508del
c.37_495+591del
ClinVar
2g.219418499T>ACA350682264DESc.37T>A (p.Ser13Thr)
2g.219418499T>CCA350682267DESc.37T>C (p.Ser13Pro)
ClinVar dbSNP
2g.219418499T>GCA350682270DESc.37T>G (p.Ser13Ala)
2g.219418499T=CA1329209814DESc.37T= (p.Ser13=)
2g.219418499_219418511delinsTCCTACCGCCGCACA1329209815DESc.37_49delinsTCCTACCGCCGCA (p.Ser13=)
2g.219418500C>ACA350682283DESc.38C>A (p.Ser13Tyr)
ClinVar dbSNP
2g.219418500C=CA1329209816DESc.38C= (p.Ser13=)
2g.219418500C>GCA350682275DESc.38C>G (p.Ser13Cys)
2g.219418500C>TCA261520DESc.38C>T (p.Ser13Phe)
ClinVar dbSNP
2g.219418503_219418514delCA1042519974DESc.41_52del (p.Tyr14_Thr17del)
dbSNP gnomAD v3 gnomAD v4
2g.219418501C>ACA431427411DESc.39C>A (p.Ser13=)
gnomAD v4
2g.219418501C>GCA431427412DESc.39C>G (p.Ser13=)
gnomAD v4
2g.219418501C>TCA431427413DESc.39C>T (p.Ser13=)
2g.219418502delCA2663248650DESc.40del (p.Tyr14ThrfsTer17)
gnomAD v4
2g.219418502T>ACA350682285DESc.40T>A (p.Tyr14Asn)
2g.219418502T>CCA2125006DESc.40T>C (p.Tyr14His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219418502T>GCA350682287DESc.40T>G (p.Tyr14Asp)
2g.219418502T=CA1329209817DESc.40T= (p.Tyr14=)
2g.219418503A>CCA350682294DESc.41A>C (p.Tyr14Ser)
dbSNP gnomAD v4
2g.219418503A>GCA350682296DESc.41A>G (p.Tyr14Cys)
2g.219418503A>TCA350682298DESc.41A>T (p.Tyr14Phe)
2g.219418504C>ACA350682306DESc.42C>A (p.Tyr14Ter)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.219418504C=CA1329209818DESc.42C= (p.Tyr14=)
2g.219418504C>GCA350682314DESc.42C>G (p.Tyr14Ter)
2g.219418504C>TCA431427414DESc.42C>T (p.Tyr14=)
2g.219418505C>ACA16622111DESc.43C>A (p.Arg15Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219418505C=CA1329209819DESc.43C= (p.Arg15=)
2g.219418505C>GCA2125007DESc.43C>G (p.Arg15Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.219418505C>TCA2125008DESc.43C>T (p.Arg15Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219418506G>ACA65980589DESc.44G>A (p.Arg15His)
dbSNP gnomAD v3 gnomAD v4
2g.219418506G>CCA350682324DESc.44G>C (p.Arg15Pro)
dbSNP
2g.219418506G=CA1329209820DESc.44G= (p.Arg15=)
2g.219418506G>TCA350682330DESc.44G>T (p.Arg15Leu)
gnomAD v4
2g.219418507C>ACA431427415DESc.45C>A (p.Arg15=)
gnomAD v4
2g.219418507C=CA1329209821DESc.45C= (p.Arg15=)
2g.219418507C>GCA431427416DESc.45C>G (p.Arg15=)
2g.219418507C>TCA431427417DESc.45C>T (p.Arg15=)
ClinVar dbSNP
2g.219418508C>ACA350682339DESc.46C>A (p.Arg16Ser)
ClinVar dbSNP
2g.219418508C=CA1329209822DESc.46C= (p.Arg16=)
2g.219418508C>GCA350682336DESc.46C>G (p.Arg16Gly)

Number of alleles fetched