Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36245961_36246193delinsCTACA2573144542CLTA,GNEc.547_709+70delinsTAG
c.277_439+70delinsTAG
c.454_616+70delinsTAG
c.486-17237_486-17005delinsCTA (n.486-17237_486-17005delinsCTA)
c.439_601+70delinsTAG
 ClinVar dbSNP
9g.36246024T>CCA5056697CLTA,GNEc.709+7A>G (n.709+7A>G)
c.439+7A>G (n.439+7A>G)
c.616+7A>G (n.616+7A>G)
c.486-17174T>C (n.486-17174T>C)
c.601+7A>G (n.601+7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246024T=CA1846374972CLTA,GNEc.709+7A= (n.709+7A=)
c.439+7A= (n.439+7A=)
c.616+7A= (n.616+7A=)
c.486-17174T= (n.486-17174T=)
c.601+7A= (n.601+7A=)
9g.36246025A>GCA2689947821CLTA,GNEc.709+6T>C (n.709+6T>C)
c.439+6T>C (n.439+6T>C)
c.616+6T>C (n.616+6T>C)
c.486-17173A>G (n.486-17173A>G)
c.601+6T>C (n.601+6T>C)
 gnomAD v4
9g.36246026C=CA1846374975CLTA,GNEc.709+5G= (n.709+5G=)
c.439+5G= (n.439+5G=)
c.616+5G= (n.616+5G=)
c.486-17172C= (n.486-17172C=)
c.601+5G= (n.601+5G=)
9g.36246026C>GCA2565778776CLTA,GNEc.709+5G>C (n.709+5G>C)
c.439+5G>C (n.439+5G>C)
c.616+5G>C (n.616+5G>C)
c.486-17172C>G (n.486-17172C>G)
c.601+5G>C (n.601+5G>C)
9g.36246026C>TCA5056698CLTA,GNEc.709+5G>A (n.709+5G>A)
c.439+5G>A (n.439+5G>A)
c.616+5G>A (n.616+5G>A)
c.486-17172C>T (n.486-17172C>T)
c.601+5G>A (n.601+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36246027G>ACA5056700CLTA,GNEc.709+4C>T (n.709+4C>T)
c.439+4C>T (n.439+4C>T)
c.616+4C>T (n.616+4C>T)
c.486-17171G>A (n.486-17171G>A)
c.601+4C>T (n.601+4C>T)
 ClinVar dbSNP ExAC gnomAD v4
9g.36246027G=CA1846374984CLTA,GNEc.709+4C= (n.709+4C=)
c.439+4C= (n.439+4C=)
c.616+4C= (n.616+4C=)
c.486-17171G= (n.486-17171G=)
c.601+4C= (n.601+4C=)
9g.36246027G>TCA5056699CLTA,GNEc.709+4C>A (n.709+4C>A)
c.439+4C>A (n.439+4C>A)
c.616+4C>A (n.616+4C>A)
c.486-17171G>T (n.486-17171G>T)
c.601+4C>A (n.601+4C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246030_36246033delCA2697557737CLTA,GNEc.709_709+3del
c.439_439+3del
c.616_616+3del
c.486-17168_486-17165del (n.486-17168_486-17165del)
c.601_601+3del
 ClinVar
9g.36246029A>CCA373417935CLTA,GNEc.709+2T>G (n.709+2T>G)
c.439+2T>G (n.439+2T>G)
c.616+2T>G (n.616+2T>G)
c.486-17169A>C (n.486-17169A>C)
c.601+2T>G (n.601+2T>G)
9g.36246029A>GCA373417937CLTA,GNEc.709+2T>C (n.709+2T>C)
c.439+2T>C (n.439+2T>C)
c.616+2T>C (n.616+2T>C)
c.486-17169A>G (n.486-17169A>G)
c.601+2T>C (n.601+2T>C)
9g.36246029A>TCA373417936CLTA,GNEc.709+2T>A (n.709+2T>A)
c.439+2T>A (n.439+2T>A)
c.616+2T>A (n.616+2T>A)
c.486-17169A>T (n.486-17169A>T)
c.601+2T>A (n.601+2T>A)
9g.36246029_36246030delCA913157668CLTA,GNEc.709+1_709+2del (n.709+1_709+2del)
c.439+1_439+2del (n.439+1_439+2del)
c.616+1_616+2del (n.616+1_616+2del)
c.486-17169_486-17168del (n.486-17169_486-17168del)
c.601+1_601+2del (n.601+1_601+2del)
9g.36246029_36246030delinsACCA1846374990CLTA,GNEc.709+1_709+2delinsGT (n.709+1_709+2delinsGT)
c.439+1_439+2delinsGT (n.439+1_439+2delinsGT)
c.616+1_616+2delinsGT (n.616+1_616+2delinsGT)
c.486-17169_486-17168delinsAC (n.486-17169_486-17168delinsAC)
c.601+1_601+2delinsGT (n.601+1_601+2delinsGT)
9g.36246030C>ACA373417938CLTA,GNEc.709+1G>T (n.709+1G>T)
c.439+1G>T (n.439+1G>T)
c.616+1G>T (n.616+1G>T)
c.486-17168C>A (n.486-17168C>A)
c.601+1G>T (n.601+1G>T)
9g.36246030C=CA1846374994CLTA,GNEc.709+1G= (n.709+1G=)
c.439+1G= (n.439+1G=)
c.616+1G= (n.616+1G=)
c.486-17168C= (n.486-17168C=)
c.601+1G= (n.601+1G=)
9g.36246030C>GCA373417939CLTA,GNEc.709+1G>C (n.709+1G>C)
c.439+1G>C (n.439+1G>C)
c.616+1G>C (n.616+1G>C)
c.486-17168C>G (n.486-17168C>G)
c.601+1G>C (n.601+1G>C)
9g.36246030C>TCA373417940CLTA,GNEc.709+1G>A (n.709+1G>A)
c.439+1G>A (n.439+1G>A)
c.616+1G>A (n.616+1G>A)
c.486-17168C>T (n.486-17168C>T)
c.601+1G>A (n.601+1G>A)
 dbSNP
9g.36246031delCA658822302CLTA,GNEc.709+1del
c.439+1del
c.616+1del
c.486-17167del (n.486-17167del)
c.601+1del
 ClinVar dbSNP gnomAD v4
9g.36246031C>ACA373417941CLTA,GNEc.709G>T (p.Gly237Cys)
c.439G>T (p.Gly147Cys)
c.616G>T (p.Gly206Cys)
c.486-17167C>A (n.486-17167C>A)
c.439G>T (p.Gly147Trp)
c.601G>T (p.Gly201Cys)
c.709G>T (p.Gly237Trp)
c.616G>T (p.Gly206Trp)
9g.36246031C=CA1846375002CLTA,GNEc.709G= (p.Gly237=)
c.439G= (p.Gly147=)
c.616G= (p.Gly206=)
c.486-17167C= (n.486-17167C=)
c.601G= (p.Gly201=)
9g.36246031C>GCA373417943CLTA,GNEc.709G>C (p.Gly237Arg)
c.439G>C (p.Gly147Arg)
c.616G>C (p.Gly206Arg)
c.486-17167C>G (n.486-17167C>G)
c.601G>C (p.Gly201Arg)
9g.36246031C>TCA5056701CLTA,GNEc.709G>A (p.Gly237Ser)
c.439G>A (p.Gly147Ser)
c.616G>A (p.Gly206Ser)
c.486-17167C>T (n.486-17167C>T)
c.439G>A (p.Gly147Arg)
c.601G>A (p.Gly201Ser)
c.709G>A (p.Gly237Arg)
c.616G>A (p.Gly206Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246032T>ACA464619567CLTA,GNEc.708A>T (p.Leu236=)
c.438A>T (p.Leu146=)
c.615A>T (p.Leu205=)
c.486-17166T>A (n.486-17166T>A)
c.600A>T (p.Leu200=)
9g.36246032T>CCA464619568CLTA,GNEc.708A>G (p.Leu236=)
c.438A>G (p.Leu146=)
c.615A>G (p.Leu205=)
c.486-17166T>C (n.486-17166T>C)
c.600A>G (p.Leu200=)
9g.36246032T>GCA464619569CLTA,GNEc.708A>C (p.Leu236=)
c.438A>C (p.Leu146=)
c.615A>C (p.Leu205=)
c.486-17166T>G (n.486-17166T>G)
c.600A>C (p.Leu200=)
9g.36246033A>CCA373417947CLTA,GNEc.707T>G (p.Leu236Arg)
c.437T>G (p.Leu146Arg)
c.614T>G (p.Leu205Arg)
c.486-17165A>C (n.486-17165A>C)
c.599T>G (p.Leu200Arg)
9g.36246033A>GCA373417949CLTA,GNEc.707T>C (p.Leu236Pro)
c.437T>C (p.Leu146Pro)
c.614T>C (p.Leu205Pro)
c.486-17165A>G (n.486-17165A>G)
c.599T>C (p.Leu200Pro)
9g.36246033A>TCA373417950CLTA,GNEc.707T>A (p.Leu236Gln)
c.437T>A (p.Leu146Gln)
c.614T>A (p.Leu205Gln)
c.486-17165A>T (n.486-17165A>T)
c.599T>A (p.Leu200Gln)
9g.36246034G>ACA464619573CLTA,GNEc.706C>T (p.Leu236=)
c.436C>T (p.Leu146=)
c.613C>T (p.Leu205=)
c.486-17164G>A (n.486-17164G>A)
c.598C>T (p.Leu200=)
9g.36246034G>CCA5056702CLTA,GNEc.706C>G (p.Leu236Val)
c.436C>G (p.Leu146Val)
c.613C>G (p.Leu205Val)
c.486-17164G>C (n.486-17164G>C)
c.598C>G (p.Leu200Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36246034G=CA1846375010CLTA,GNEc.706C= (p.Leu236=)
c.436C= (p.Leu146=)
c.613C= (p.Leu205=)
c.486-17164G= (n.486-17164G=)
c.598C= (p.Leu200=)
9g.36246034G>TCA373417953CLTA,GNEc.706C>A (p.Leu236Ile)
c.436C>A (p.Leu146Ile)
c.613C>A (p.Leu205Ile)
c.486-17164G>T (n.486-17164G>T)
c.598C>A (p.Leu200Ile)
 gnomAD v4
9g.36246035C>ACA373417958CLTA,GNEc.705G>T (p.Trp235Cys)
c.435G>T (p.Trp145Cys)
c.612G>T (p.Trp204Cys)
c.486-17163C>A (n.486-17163C>A)
c.597G>T (p.Trp199Cys)
9g.36246035C=CA1846375019CLTA,GNEc.705G= (p.Trp235=)
c.435G= (p.Trp145=)
c.612G= (p.Trp204=)
c.486-17163C= (n.486-17163C=)
c.597G= (p.Trp199=)
9g.36246035C>GCA373417959CLTA,GNEc.705G>C (p.Trp235Cys)
c.435G>C (p.Trp145Cys)
c.612G>C (p.Trp204Cys)
c.486-17163C>G (n.486-17163C>G)
c.597G>C (p.Trp199Cys)
9g.36246035C>TCA273969CLTA,GNEc.705G>A (p.Trp235Ter)
c.435G>A (p.Trp145Ter)
c.612G>A (p.Trp204Ter)
c.486-17163C>T (n.486-17163C>T)
c.597G>A (p.Trp199Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36246036C>ACA373417968CLTA,GNEc.704G>T (p.Trp235Leu)
c.434G>T (p.Trp145Leu)
c.611G>T (p.Trp204Leu)
c.486-17162C>A (n.486-17162C>A)
c.596G>T (p.Trp199Leu)
9g.36246036C=CA1846375024CLTA,GNEc.704G= (p.Trp235=)
c.434G= (p.Trp145=)
c.611G= (p.Trp204=)
c.486-17162C= (n.486-17162C=)
c.596G= (p.Trp199=)
9g.36246036C>GCA5056703CLTA,GNEc.704G>C (p.Trp235Ser)
c.434G>C (p.Trp145Ser)
c.611G>C (p.Trp204Ser)
c.486-17162C>G (n.486-17162C>G)
c.596G>C (p.Trp199Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36246036C>TCA373417964CLTA,GNEc.704G>A (p.Trp235Ter)
c.434G>A (p.Trp145Ter)
c.611G>A (p.Trp204Ter)
c.486-17162C>T (n.486-17162C>T)
c.596G>A (p.Trp199Ter)
 dbSNP gnomAD v2 gnomAD v4
9g.36246037A>CCA373417969CLTA,GNEc.703T>G (p.Trp235Gly)
c.433T>G (p.Trp145Gly)
c.610T>G (p.Trp204Gly)
c.486-17161A>C (n.486-17161A>C)
c.595T>G (p.Trp199Gly)
9g.36246037A>GCA373417970CLTA,GNEc.703T>C (p.Trp235Arg)
c.433T>C (p.Trp145Arg)
c.610T>C (p.Trp204Arg)
c.486-17161A>G (n.486-17161A>G)
c.595T>C (p.Trp199Arg)
9g.36246037A>TCA373417971CLTA,GNEc.703T>A (p.Trp235Arg)
c.433T>A (p.Trp145Arg)
c.610T>A (p.Trp204Arg)
c.486-17161A>T (n.486-17161A>T)
c.595T>A (p.Trp199Arg)
9g.36246038C>ACA373417974CLTA,GNEc.702G>T (p.Met234Ile)
c.432G>T (p.Met144Ile)
c.609G>T (p.Met203Ile)
c.486-17160C>A (n.486-17160C>A)
c.594G>T (p.Met198Ile)
9g.36246038C>GCA373417973CLTA,GNEc.702G>C (p.Met234Ile)
c.432G>C (p.Met144Ile)
c.609G>C (p.Met203Ile)
c.486-17160C>G (n.486-17160C>G)
c.594G>C (p.Met198Ile)
9g.36246038C>TCA373417972CLTA,GNEc.702G>A (p.Met234Ile)
c.432G>A (p.Met144Ile)
c.609G>A (p.Met203Ile)
c.486-17160C>T (n.486-17160C>T)
c.594G>A (p.Met198Ile)
 gnomAD v4
9g.36246039A=CA1846375029CLTA,GNEc.701T= (p.Met234=)
c.431T= (p.Met144=)
c.608T= (p.Met203=)
c.486-17159A= (n.486-17159A=)
c.593T= (p.Met198=)

Number of alleles fetched