Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.230704250A>CCA345203177AGTc.1185T>G (p.Ile395Met)
c.*644T>G (p.=)
n.5490T>G
c.829+5745T>G (p.=)
n.3291T>G
c.*679T>G (p.=)
c.1212T>G (p.Ile404Met)
1g.230704250A>GCA423883511AGTc.1185T>C (p.Ile395=)
c.*644T>C (p.=)
n.5490T>C
c.829+5745T>C (p.=)
n.3291T>C
c.*679T>C (p.=)
c.1212T>C (p.Ile404=)
1g.230704250A>TCA423883512AGTc.1185T>A (p.Ile395=)
c.*644T>A (p.=)
n.5490T>A
c.829+5745T>A (p.=)
n.3291T>A
c.*679T>A (p.=)
c.1212T>A (p.Ile404=)
1g.230704251A>CCA345203179AGTc.1184T>G (p.Ile395Ser)
c.*643T>G (p.=)
n.5489T>G
c.829+5744T>G (p.=)
n.3290T>G
c.*678T>G (p.=)
c.1211T>G (p.Ile404Ser)
1g.230704251A>GCA345203181AGTc.1184T>C (p.Ile395Thr)
c.*643T>C (p.=)
n.5489T>C
c.829+5744T>C (p.=)
n.3290T>C
c.*678T>C (p.=)
c.1211T>C (p.Ile404Thr)
1g.230704251A>TCA345203183AGTc.1184T>A (p.Ile395Asn)
c.*643T>A (p.=)
n.5489T>A
c.829+5744T>A (p.=)
n.3290T>A
c.*678T>A (p.=)
c.1211T>A (p.Ile404Asn)
1g.230704251_230704252insGGCCA645521367AGTc.1183_1184insGCC (p.Ile395delinsSerLeu)
c.*642_*643insGCC (p.=)
n.5488_5489insGCC
c.829+5743_829+5744insGCC (p.=)
n.3289_3290insGCC
c.*677_*678insGCC (p.=)
c.1210_1211insGCC (p.Ile404delinsSerLeu)
COSMIC
1g.230704252T>ACA345203185AGTc.1183A>T (p.Ile395Phe)
c.*642A>T (p.=)
n.5488A>T
c.829+5743A>T (p.=)
n.3289A>T
c.*677A>T (p.=)
c.1210A>T (p.Ile404Phe)
1g.230704252T>CCA345203187AGTc.1183A>G (p.Ile395Val)
c.*642A>G (p.=)
n.5488A>G
c.829+5743A>G (p.=)
n.3289A>G
c.*677A>G (p.=)
c.1210A>G (p.Ile404Val)
1g.230704252T>GCA345203189AGTc.1183A>C (p.Ile395Leu)
c.*642A>C (p.=)
n.5488A>C
c.829+5743A>C (p.=)
n.3289A>C
c.*677A>C (p.=)
c.1210A>C (p.Ile404Leu)
1g.230704252T=CA1226667052AGTc.1183A= (p.Ile395=)
c.*642A= (p.=)
n.5488A=
c.829+5743A= (p.=)
n.3289A=
c.*677A= (p.=)
c.1210A= (p.Ile404=)
1g.230704253G>ACA423883513AGTc.1182C>T (p.Ala394=)
c.*641C>T (p.=)
n.5487C>T
c.829+5742C>T (p.=)
n.3288C>T
c.*676C>T (p.=)
c.1209C>T (p.Ala403=)
1g.230704253G>CCA423883514AGTc.1182C>G (p.Ala394=)
c.*641C>G (p.=)
n.5487C>G
c.829+5742C>G (p.=)
n.3288C>G
c.*676C>G (p.=)
c.1209C>G (p.Ala403=)
1g.230704253G=CA1226667053AGTc.1182C= (p.Ala394=)
c.*641C= (p.=)
n.5487C=
c.829+5742C= (p.=)
n.3288C=
c.*676C= (p.=)
c.1209C= (p.Ala403=)
1g.230704253G>TCA423883515AGTc.1182C>A (p.Ala394=)
c.*641C>A (p.=)
n.5487C>A
c.829+5742C>A (p.=)
n.3288C>A
c.*676C>A (p.=)
c.1209C>A (p.Ala403=)
1g.230704253_230704257delinsGGCGGCA1146921891AGTc.1178_1182delinsCCGCC (p.Pro393=)
c.*637_*641delinsCCGCC (p.=)
n.5483_5487delinsCCGCC
c.829+5738_829+5742delinsCCGCC (p.=)
n.3284_3288delinsCCGCC
c.*672_*676delinsCCGCC (p.=)
c.1205_1209delinsCCGCC (p.Pro402=)
1g.230704255_230704257dupCA1448100AGTc.1180_1182dup (p.Ala394_Ile395insAla)
c.*639_*641dup (p.=)
n.5485_5487dup
c.829+5740_829+5742dup (p.=)
n.3286_3288dup
c.*674_*676dup (p.=)
c.1207_1209dup (p.Ala403_Ile404insAla)
dbSNP ExAC gnomAD
1g.230704254G>ACA345203196AGTc.1181C>T (p.Ala394Val)
c.*640C>T (p.=)
n.5486C>T
c.829+5741C>T (p.=)
n.3287C>T
c.*675C>T (p.=)
c.1208C>T (p.Ala403Val)
1g.230704254G>CCA345203193AGTc.1181C>G (p.Ala394Gly)
c.*640C>G (p.=)
n.5486C>G
c.829+5741C>G (p.=)
n.3287C>G
c.*675C>G (p.=)
c.1208C>G (p.Ala403Gly)
1g.230704254G>TCA345203195AGTc.1181C>A (p.Ala394Asp)
c.*640C>A (p.=)
n.5486C>A
c.829+5741C>A (p.=)
n.3287C>A
c.*675C>A (p.=)
c.1208C>A (p.Ala403Asp)
1g.230704255C>ACA345203199AGTc.1180G>T (p.Ala394Ser)
c.*639G>T (p.=)
n.5485G>T
c.829+5740G>T (p.=)
n.3286G>T
c.*674G>T (p.=)
c.1207G>T (p.Ala403Ser)
1g.230704255C=CA1142166139AGTc.1180G= (p.Ala394=)
c.*639G= (p.=)
n.5485G=
c.829+5740G= (p.=)
n.3286G=
c.*674G= (p.=)
c.1207G= (p.Ala403=)
1g.230704255C>GCA345203201AGTc.1180G>C (p.Ala394Pro)
c.*639G>C (p.=)
n.5485G>C
c.829+5740G>C (p.=)
n.3286G>C
c.*674G>C (p.=)
c.1207G>C (p.Ala403Pro)
1g.230704255C>TCA1448101AGTc.1180G>A (p.Ala394Thr)
c.*639G>A (p.=)
n.5485G>A
c.829+5740G>A (p.=)
n.3286G>A
c.*674G>A (p.=)
c.1207G>A (p.Ala403Thr)
dbSNP ExAC gnomAD
1g.230704256G>ACA1448102AGTc.1179C>T (p.Pro393=)
c.*638C>T (p.=)
n.5484C>T
c.829+5739C>T (p.=)
n.3285C>T
c.*673C>T (p.=)
c.1206C>T (p.Pro402=)
dbSNP ExAC gnomAD
1g.230704256G>CCA423883516AGTc.1179C>G (p.Pro393=)
c.*638C>G (p.=)
n.5484C>G
c.829+5739C>G (p.=)
n.3285C>G
c.*673C>G (p.=)
c.1206C>G (p.Pro402=)
1g.230704256G=CA1143604713AGTc.1179C= (p.Pro393=)
c.*638C= (p.=)
n.5484C=
c.829+5739C= (p.=)
n.3285C=
c.*673C= (p.=)
c.1206C= (p.Pro402=)
1g.230704256G>TCA423883517AGTc.1179C>A (p.Pro393=)
c.*638C>A (p.=)
n.5484C>A
c.829+5739C>A (p.=)
n.3285C>A
c.*673C>A (p.=)
c.1206C>A (p.Pro402=)
1g.230704257G>ACA345203206AGTc.1178C>T (p.Pro393Leu)
c.*637C>T (p.=)
n.5483C>T
c.829+5738C>T (p.=)
n.3284C>T
c.*672C>T (p.=)
c.1205C>T (p.Pro402Leu)
1g.230704257G>CCA345203208AGTc.1178C>G (p.Pro393Arg)
c.*637C>G (p.=)
n.5483C>G
c.829+5738C>G (p.=)
n.3284C>G
c.*672C>G (p.=)
c.1205C>G (p.Pro402Arg)
1g.230704257G>TCA345203209AGTc.1178C>A (p.Pro393His)
c.*637C>A (p.=)
n.5483C>A
c.829+5738C>A (p.=)
n.3284C>A
c.*672C>A (p.=)
c.1205C>A (p.Pro402His)
1g.230704258G>ACA345203211AGTc.1177C>T (p.Pro393Ser)
c.*636C>T (p.=)
n.5482C>T
c.829+5737C>T (p.=)
n.3283C>T
c.*671C>T (p.=)
c.1204C>T (p.Pro402Ser)
1g.230704258G>CCA345203213AGTc.1177C>G (p.Pro393Ala)
c.*636C>G (p.=)
n.5482C>G
c.829+5737C>G (p.=)
n.3283C>G
c.*671C>G (p.=)
c.1204C>G (p.Pro402Ala)
1g.230704258G=CA1226667054AGTc.1177C= (p.Pro393=)
c.*636C= (p.=)
n.5482C=
c.829+5737C= (p.=)
n.3283C=
c.*671C= (p.=)
c.1204C= (p.Pro402=)
1g.230704258G>TCA345203215AGTc.1177C>A (p.Pro393Thr)
c.*636C>A (p.=)
n.5482C>A
c.829+5737C>A (p.=)
n.3283C>A
c.*671C>A (p.=)
c.1204C>A (p.Pro402Thr)
1g.230704259C>ACA1448103AGTc.1176G>T (p.Leu392=)
c.*635G>T (p.=)
n.5481G>T
c.829+5736G>T (p.=)
n.3282G>T
c.*670G>T (p.=)
c.1203G>T (p.Leu401=)
dbSNP ExAC
1g.230704259C=CA1148410469AGTc.1176G= (p.Leu392=)
c.*635G= (p.=)
n.5481G=
c.829+5736G= (p.=)
n.3282G=
c.*670G= (p.=)
c.1203G= (p.Leu401=)
1g.230704259C>GCA423883518AGTc.1176G>C (p.Leu392=)
c.*635G>C (p.=)
n.5481G>C
c.829+5736G>C (p.=)
n.3282G>C
c.*670G>C (p.=)
c.1203G>C (p.Leu401=)
1g.230704259C>TCA423883519AGTc.1176G>A (p.Leu392=)
c.*635G>A (p.=)
n.5481G>A
c.829+5736G>A (p.=)
n.3282G>A
c.*670G>A (p.=)
c.1203G>A (p.Leu401=)
1g.230704260A>CCA345203218AGTc.1175T>G (p.Leu392Arg)
c.*634T>G (p.=)
n.5480T>G
c.829+5735T>G (p.=)
n.3281T>G
c.*669T>G (p.=)
c.1202T>G (p.Leu401Arg)
1g.230704260A>GCA345203221AGTc.1175T>C (p.Leu392Pro)
c.*634T>C (p.=)
n.5480T>C
c.829+5735T>C (p.=)
n.3281T>C
c.*669T>C (p.=)
c.1202T>C (p.Leu401Pro)
1g.230704260A>TCA345203219AGTc.1175T>A (p.Leu392Gln)
c.*634T>A (p.=)
n.5480T>A
c.829+5735T>A (p.=)
n.3281T>A
c.*669T>A (p.=)
c.1202T>A (p.Leu401Gln)
1g.230704261G>ACA423883520AGTc.1174C>T (p.Leu392=)
c.*633C>T (p.=)
n.5479C>T
c.829+5734C>T (p.=)
n.3280C>T
c.*668C>T (p.=)
c.1201C>T (p.Leu401=)
1g.230704261G>CCA345203223AGTc.1174C>G (p.Leu392Val)
c.*633C>G (p.=)
n.5479C>G
c.829+5734C>G (p.=)
n.3280C>G
c.*668C>G (p.=)
c.1201C>G (p.Leu401Val)
1g.230704261G>TCA345203225AGTc.1174C>A (p.Leu392Met)
c.*633C>A (p.=)
n.5479C>A
c.829+5734C>A (p.=)
n.3280C>A
c.*668C>A (p.=)
c.1201C>A (p.Leu401Met)
1g.230704262C>ACA345203227AGTc.1173G>T (p.Glu391Asp)
c.*632G>T (p.=)
n.5478G>T
c.829+5733G>T (p.=)
n.3279G>T
c.*667G>T (p.=)
c.1200G>T (p.Glu400Asp)
1g.230704262C>GCA345203229AGTc.1173G>C (p.Glu391Asp)
c.*632G>C (p.=)
n.5478G>C
c.829+5733G>C (p.=)
n.3279G>C
c.*667G>C (p.=)
c.1200G>C (p.Glu400Asp)
1g.230704262C>TCA423883521AGTc.1173G>A (p.Glu391=)
c.*632G>A (p.=)
n.5478G>A
c.829+5733G>A (p.=)
n.3279G>A
c.*667G>A (p.=)
c.1200G>A (p.Glu400=)
1g.230704263T>ACA345203231AGTc.1172A>T (p.Glu391Val)
c.*631A>T (p.=)
n.5477A>T
c.829+5732A>T (p.=)
n.3278A>T
c.*666A>T (p.=)
c.1199A>T (p.Glu400Val)
1g.230704263T>CCA345203234AGTc.1172A>G (p.Glu391Gly)
c.*631A>G (p.=)
n.5477A>G
c.829+5732A>G (p.=)
n.3278A>G
c.*666A>G (p.=)
c.1199A>G (p.Glu400Gly)

Number of alleles fetched