Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.204190416_204190473del | CA2650014706 | KISS1 | c.*17_*74del (n.*17_*74del) | gnomAD v4 |
1 | g.204190418_204190495del | CA2650014707 | KISS1 | c.414_*74del (n.[c.414_*74del;Ter139ArgextTer16]) | gnomAD v4 |
1 | g.204190432_204190467del | CA2650015000 | KISS1 | c.*17_*52del (n.*17_*52del) | gnomAD v4 |
1 | g.204190447_204190467del | CA2650015063 | KISS1 | c.*17_*37del (n.*17_*37del) | gnomAD v4 |
1 | g.204190462T>A | CA344346317 | KISS1 | c.*22A>T (n.*22A>T) c.435A>T (p.Ter145Cys) | |
1 | g.204190462T>C | CA344346318 | KISS1 | c.*22A>G (n.*22A>G) c.435A>G (p.Ter145Trp) | gnomAD v4 |
1 | g.204190462T>G | CA344346319 | KISS1 | c.*22A>C (n.*22A>C) c.435A>C (p.Ter145Cys) | |
1 | g.204190463C>A | CA344346320 | KISS1 | c.*21G>T (n.*21G>T) c.434G>T (p.Ter145Leu) | gnomAD v4 |
1 | g.204190463C= | CA2482070157 | KISS1 | c.*21G= (n.*21G=) c.434G= (p.Ter145=) | |
1 | g.204190463C>G | CA344346321 | KISS1 | c.*21G>C (n.*21G>C) c.434G>C (p.Ter145Ser) | |
1 | g.204190463C>T | CA2482070158 | KISS1 | c.*21G>A (n.*21G>A) c.434G>A (p.Ter145=) | dbSNP gnomAD v4 |
1 | g.204190464A= | CA1144121188 | KISS1 | c.*20T= (n.*20T=) c.433T= (p.Ter145=) | |
1 | g.204190464A>C | CA344346322 | KISS1 | c.*20T>G (n.*20T>G) c.433T>G (p.Ter145Gly) | |
1 | g.204190464A>G | CA1345103 | KISS1 | c.*20T>C (n.*20T>C) c.433T>C (p.Ter145Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190464A>T | CA344346323 | KISS1 | c.*20T>A (n.*20T>A) c.433T>A (p.Ter145Arg) | gnomAD v4 |
1 | g.204190465C>A | CA344346324 | KISS1 | c.*19G>T (n.*19G>T) c.432G>T (p.Gln144His) | gnomAD v4 |
1 | g.204190465C= | CA2482070159 | KISS1 | c.*19G= (n.*19G=) c.432G= (p.Gln144=) | |
1 | g.204190465C>G | CA344346325 | KISS1 | c.*19G>C (n.*19G>C) c.432G>C (p.Gln144His) | |
1 | g.204190465C>T | CA2482070160 | KISS1 | c.*19G>A (n.*19G>A) c.432G>A (p.Gln144=) | dbSNP gnomAD v4 |
1 | g.204190466T>A | CA344346326 | KISS1 | c.*18A>T (n.*18A>T) c.431A>T (p.Gln144Leu) | |
1 | g.204190466T>C | CA344346328 | KISS1 | c.*18A>G (n.*18A>G) c.431A>G (p.Gln144Arg) | |
1 | g.204190466T>G | CA344346327 | KISS1 | c.*18A>C (n.*18A>C) c.431A>C (p.Gln144Pro) | dbSNP |
1 | g.204190466T= | CA2482070161 | KISS1 | c.*18A= (n.*18A=) c.431A= (p.Gln144=) | |
1 | g.204190467G>A | CA344346329 | KISS1 | c.*17C>T (n.*17C>T) c.430C>T (p.Gln144Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190467G>C | CA344346330 | KISS1 | c.*17C>G (n.*17C>G) c.430C>G (p.Gln144Glu) | |
1 | g.204190467G= | CA2482070162 | KISS1 | c.*17C= (n.*17C=) c.430C= (p.Gln144=) | |
1 | g.204190467G>T | CA344346331 | KISS1 | c.*17C>A (n.*17C>A) c.430C>A (p.Gln144Lys) | gnomAD v4 |
1 | g.204190467_204190468insTCCCGCACCTGCGCCCTCAG | CA2606903174 | KISS1 | c.*17_*18insTGAGGGCGCAGGTGCGGGAC (n.*17_*18insTGAGGGCGCAGGTGCGGGAC) c.430_431insTGAGGGCGCAGGTGCGGGAC (p.Gln144LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190468C>A | CA2573644147 | KISS1 | c.*16G>T (n.*16G>T) c.429G>T (p.Gly143=) | gnomAD v4 |
1 | g.204190468C= | CA2482070163 | KISS1 | c.*16G= (n.*16G=) c.429G= (p.Gly143=) | |
1 | g.204190468C>G | CA2650015078 | KISS1 | c.*16G>C (n.*16G>C) c.429G>C (p.Gly143=) | gnomAD v4 |
1 | g.204190468C>T | CA1345104 | KISS1 | c.*16G>A (n.*16G>A) c.429G>A (p.Gly143=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190469C>A | CA344346332 | KISS1 | c.*15G>T (n.*15G>T) c.428G>T (p.Gly143Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190469C= | CA2482070164 | KISS1 | c.*15G= (n.*15G=) c.428G= (p.Gly143=) | |
1 | g.204190469C>G | CA344346333 | KISS1 | c.*15G>C (n.*15G>C) c.428G>C (p.Gly143Ala) | |
1 | g.204190469C>T | CA344346334 | KISS1 | c.*15G>A (n.*15G>A) c.428G>A (p.Gly143Glu) | gnomAD v4 |
1 | g.204190470C>A | CA344346335 | KISS1 | c.*14G>T (n.*14G>T) c.427G>T (p.Gly143Trp) | gnomAD v4 |
1 | g.204190470C>G | CA344346336 | KISS1 | c.*14G>C (n.*14G>C) c.427G>C (p.Gly143Arg) | |
1 | g.204190470C>T | CA344346337 | KISS1 | c.*14G>A (n.*14G>A) c.427G>A (p.Gly143Arg) | gnomAD v4 |
1 | g.204190471C>A | CA2573986334 | KISS1 | c.*13G>T (n.*13G>T) c.426G>T (p.Ala142=) | gnomAD v4 |
1 | g.204190471C= | CA2482070165 | KISS1 | c.*13G= (n.*13G=) c.426G= (p.Ala142=) | |
1 | g.204190471C>G | CA2650015079 | KISS1 | c.*13G>C (n.*13G>C) c.426G>C (p.Ala142=) | gnomAD v4 |
1 | g.204190471C>T | CA1345105 | KISS1 | c.*13G>A (n.*13G>A) c.426G>A (p.Ala142=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190472G>A | CA344346338 | KISS1 | c.*12C>T (n.*12C>T) c.425C>T (p.Ala142Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190472G>C | CA344346340 | KISS1 | c.*12C>G (n.*12C>G) c.425C>G (p.Ala142Gly) | |
1 | g.204190472G= | CA2482070166 | KISS1 | c.*12C= (n.*12C=) c.425C= (p.Ala142=) | |
1 | g.204190472G>T | CA344346339 | KISS1 | c.*12C>A (n.*12C>A) c.425C>A (p.Ala142Glu) | gnomAD v4 |
1 | g.204190472_204190480del | CA2650015082 | KISS1 | c.*4_*12del (n.*4_*12del) c.417_425del (p.Ala140_Ala142del) | gnomAD v4 |
1 | g.204190472_204190487del | CA528532131 | KISS1 | c.414_*12del (n.[c.414_*12del;Ter139GlyextTer3]) c.414_425del | gnomAD v2 gnomAD v4 |
1 | g.204190472_204190492del | CA2650015081 | KISS1 | c.409_*12del (n.[c.409_*12del;Arg137GlyfsTer?]) c.409_425del | gnomAD v4 |