Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.60371737_60371748dupCA2642029298MC4Rc.603_614dup (p.Leu205_Ala206insPheThrMetLeu)
gnomAD v4
18g.60371746_60371757delCA2695227733MC4Rc.601_612del (p.Phe201_Met204del)
18g.60371742G>ACA402719445MC4Rc.608C>T (p.Thr203Ile)
18g.60371742G>CCA402719447MC4Rc.608C>G (p.Thr203Ser)
18g.60371742G>TCA402719446MC4Rc.608C>A (p.Thr203Asn)
18g.60371743T>ACA402719448MC4Rc.607A>T (p.Thr203Ser)
18g.60371743T>CCA402719450MC4Rc.607A>G (p.Thr203Ala)
18g.60371743T>GCA402719449MC4Rc.607A>C (p.Thr203Pro)
COSMIC
18g.60371744G>ACA504305552MC4Rc.606C>T (p.Phe202=)
18g.60371744G>CCA402719451MC4Rc.606C>G (p.Phe202Leu)
18g.60371744G=CA2307359112MC4Rc.606C= (p.Phe202=)
18g.60371744G>TCA214142MC4Rc.606C>A (p.Phe202Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371745A>CCA402719452MC4Rc.605T>G (p.Phe202Cys)
18g.60371745A>GCA402719454MC4Rc.605T>C (p.Phe202Ser)
18g.60371745A>TCA402719453MC4Rc.605T>A (p.Phe202Tyr)
18g.60371746A>CCA402719455MC4Rc.604T>G (p.Phe202Val)
18g.60371746A>GCA402719456MC4Rc.604T>C (p.Phe202Leu)
18g.60371746A>TCA402719457MC4Rc.604T>A (p.Phe202Ile)
18g.60371747G>ACA504305556MC4Rc.603C>T (p.Phe201=)
dbSNP
18g.60371747G>CCA402719458MC4Rc.603C>G (p.Phe201Leu)
18g.60371747G=CA2307359113MC4Rc.603C= (p.Phe201=)
18g.60371747G>TCA8980883MC4Rc.603C>A (p.Phe201Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371748A>CCA402719459MC4Rc.602T>G (p.Phe201Cys)
18g.60371748A>GCA402719460MC4Rc.602T>C (p.Phe201Ser)
18g.60371748A>TCA402719461MC4Rc.602T>A (p.Phe201Tyr)
18g.60371749A>CCA402719462MC4Rc.601T>G (p.Phe201Val)
18g.60371749A>GCA402719463MC4Rc.601T>C (p.Phe201Leu)
18g.60371749A>TCA402719464MC4Rc.601T>A (p.Phe201Ile)
18g.60371750C>ACA402719465MC4Rc.600G>T (p.Met200Ile)
18g.60371750C>GCA402719467MC4Rc.600G>C (p.Met200Ile)
18g.60371750C>TCA402719466MC4Rc.600G>A (p.Met200Ile)
18g.60371750_60371752delCA2695227734MC4Rc.598_600del (p.Met200del)
18g.60371751A=CA2307359114MC4Rc.599T= (p.Met200=)
18g.60371751A>CCA402719468MC4Rc.599T>G (p.Met200Arg)
18g.60371751A>GCA402719469MC4Rc.599T>C (p.Met200Thr)
dbSNP gnomAD v4
18g.60371751A>TCA402719470MC4Rc.599T>A (p.Met200Lys)
18g.60371751_60371753delCA2642029299MC4Rc.597_599del (p.Met200del)
gnomAD v4
18g.60371752T>ACA402719471MC4Rc.598A>T (p.Met200Leu)
18g.60371752T>CCA8980884MC4Rc.598A>G (p.Met200Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371752T>GCA402719472MC4Rc.598A>C (p.Met200Leu)
18g.60371752T=CA2307359115MC4Rc.598A= (p.Met200=)
18g.60371753G>ACA504305560MC4Rc.597C>T (p.Thr199=)
18g.60371753G>CCA504305558MC4Rc.597C>G (p.Thr199=)
18g.60371753G>TCA504305559MC4Rc.597C>A (p.Thr199=)
18g.60371754G>ACA402719473MC4Rc.596C>T (p.Thr199Ile)
18g.60371754G>CCA402719474MC4Rc.596C>G (p.Thr199Ser)
18g.60371754G>TCA402719475MC4Rc.596C>A (p.Thr199Asn)
18g.60371755T>ACA402719477MC4Rc.595A>T (p.Thr199Ser)
18g.60371755T>CCA402719478MC4Rc.595A>G (p.Thr199Ala)
18g.60371755T>GCA402719476MC4Rc.595A>C (p.Thr199Pro)

Number of alleles fetched