Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.119421844_119422250del | CA2580060913 | HSD3B2 | c.343_749del (p.Val116IlefsTer7) | ClinVar |
1 | g.119422242_119422245delinsTGTC | CA1192292868 | HSD3B2 | c.741_744delinsTGTC (p.Ser247=) | |
1 | g.119422243G>A | CA1036033 | HSD3B2 | c.742G>A (p.Val248Ile) | dbSNP ExAC |
1 | g.119422243G>C | CA341398193 | HSD3B2 | c.742G>C (p.Val248Leu) | |
1 | g.119422243G= | CA1192292882 | HSD3B2 | c.742G= (p.Val248=) | |
1 | g.119422243G>T | CA341398194 | HSD3B2 | c.742G>T (p.Val248Phe) | gnomAD v4 |
1 | g.119422243_119422244delinsAA | CA121923 | HSD3B2 | c.742_743delinsAA (p.Val248Asn) | dbSNP |
1 | g.[119422243_119422244delinsAA;119422246C>T] | CA1139767760 | HSD3B2 | c.[742_743delinsAA;745C>T] (p.[Val248Asn;Arg249Ter]) | ClinVar |
1 | g.119422243_119422244delinsGT | CA1141581018 | HSD3B2 | c.742_743delinsGT (p.Val248=) | |
1 | g.119422243_119422245del | CA526249289 | HSD3B2 | c.742_744del (p.Val248del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119422243_119422247delinsAACT | CA2580060928 | HSD3B2 | c.742_746delinsAACT (p.Val248AsnfsTer2) | ClinVar |
1 | g.119422244T>A | CA341398195 | HSD3B2 | c.743T>A (p.Val248Asp) | |
1 | g.119422244T>C | CA341398196 | HSD3B2 | c.743T>C (p.Val248Ala) | |
1 | g.119422244T>G | CA341398197 | HSD3B2 | c.743T>G (p.Val248Gly) | |
1 | g.119422245C>A | CA420187430 | HSD3B2 | c.744C>A (p.Val248=) | |
1 | g.119422245C= | CA1192292884 | HSD3B2 | c.744C= (p.Val248=) | |
1 | g.119422245C>G | CA420187433 | HSD3B2 | c.744C>G (p.Val248=) | |
1 | g.119422245C>T | CA420187432 | HSD3B2 | c.744C>T (p.Val248=) | COSMIC |
1 | g.119422245_119422246insAA | CA526249290 | HSD3B2 | c.744_745insAA (p.Arg249AsnfsTer24) | dbSNP gnomAD v2 |
1 | g.119422246C>A | CA420187434 | HSD3B2 | c.745C>A (p.Arg249=) | ClinVar |
1 | g.119422246C= | CA1141187978 | HSD3B2 | c.745C= (p.Arg249=) | |
1 | g.119422246C>G | CA341398198 | HSD3B2 | c.745C>G (p.Arg249Gly) | |
1 | g.119422246C>T | CA121925 | HSD3B2 | c.745C>T (p.Arg249Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119422247G>A | CA1036034 | HSD3B2 | c.746G>A (p.Arg249Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119422247G>C | CA341398199 | HSD3B2 | c.746G>C (p.Arg249Pro) | dbSNP |
1 | g.119422247G= | CA1192292894 | HSD3B2 | c.746G= (p.Arg249=) | |
1 | g.119422247G>T | CA341398200 | HSD3B2 | c.746G>T (p.Arg249Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.119422248A>C | CA420187440 | HSD3B2 | c.747A>C (p.Arg249=) | |
1 | g.119422248A>G | CA420187444 | HSD3B2 | c.747A>G (p.Arg249=) | |
1 | g.119422248A>T | CA420187442 | HSD3B2 | c.747A>T (p.Arg249=) | |
1 | g.119422249G>A | CA341398201 | HSD3B2 | c.748G>A (p.Gly250Ser) | dbSNP |
1 | g.119422249G>C | CA341398202 | HSD3B2 | c.748G>C (p.Gly250Arg) | |
1 | g.119422249G= | CA1192292899 | HSD3B2 | c.748G= (p.Gly250=) | |
1 | g.119422249G>T | CA341398203 | HSD3B2 | c.748G>T (p.Gly250Cys) | COSMIC |
1 | g.119422250G>A | CA341398204 | HSD3B2 | c.749G>A (p.Gly250Asp) | |
1 | g.119422250G>C | CA341398205 | HSD3B2 | c.749G>C (p.Gly250Ala) | |
1 | g.119422250G>T | CA341398206 | HSD3B2 | c.749G>T (p.Gly250Val) | |
1 | g.119422251T>A | CA420187450 | HSD3B2 | c.750T>A (p.Gly250=) | gnomAD v4 |
1 | g.119422251T>C | CA1036035 | HSD3B2 | c.750T>C (p.Gly250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119422251T>G | CA420187454 | HSD3B2 | c.750T>G (p.Gly250=) | |
1 | g.119422251T= | CA1192292906 | HSD3B2 | c.750T= (p.Gly250=) | |
1 | g.119422251_119422252insATCAC | CA526249291 | HSD3B2 | c.750_751insATCAC (p.Gln251IlefsTer23) | gnomAD v2 |
1 | g.119422252C>A | CA341398207 | HSD3B2 | c.751C>A (p.Gln251Lys) | |
1 | g.119422252C>G | CA341398208 | HSD3B2 | c.751C>G (p.Gln251Glu) | |
1 | g.119422252C>T | CA341398209 | HSD3B2 | c.751C>T (p.Gln251Ter) | |
1 | g.119422253A>C | CA341398211 | HSD3B2 | c.752A>C (p.Gln251Pro) | |
1 | g.119422253A>G | CA341398212 | HSD3B2 | c.752A>G (p.Gln251Arg) | |
1 | g.119422253A>T | CA341398210 | HSD3B2 | c.752A>T (p.Gln251Leu) | |
1 | g.119422254A= | CA1192292910 | HSD3B2 | c.753A= (p.Gln251=) | |
1 | g.119422254A>C | CA341398213 | HSD3B2 | c.753A>C (p.Gln251His) |