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.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 |
1 | g.204190472_204190527del | CA2650015080 | KISS1 | c.374_*12del (n.[c.374_*12del;Glu125GlyfsTer23]) c.374_425del | gnomAD v4 |
1 | g.204190473C>A | CA344346341 | KISS1 | c.*11G>T (n.*11G>T) c.424G>T (p.Ala142Ser) | gnomAD v4 |
1 | g.204190473C= | CA2482070167 | KISS1 | c.*11G= (n.*11G=) c.424G= (p.Ala142=) | |
1 | g.204190473C>G | CA344346343 | KISS1 | c.*11G>C (n.*11G>C) c.424G>C (p.Ala142Pro) | |
1 | g.204190473C>T | CA344346342 | KISS1 | c.*11G>A (n.*11G>A) c.424G>A (p.Ala142Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190474A= | CA2482070168 | KISS1 | c.*10T= (n.*10T=) c.423T= (p.Gly141=) | |
1 | g.204190474A>C | CA35752124 | KISS1 | c.*10T>G (n.*10T>G) c.423T>G (p.Gly141=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190474A>G | CA2650015083 | KISS1 | c.*10T>C (n.*10T>C) c.423T>C (p.Gly141=) | gnomAD v4 |
1 | g.204190474A>T | CA1011398230 | KISS1 | c.*10T>A (n.*10T>A) c.423T>A (p.Gly141=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190475C>A | CA344346346 | KISS1 | c.*9G>T (n.*9G>T) c.422G>T (p.Gly141Val) | |
1 | g.204190475C>G | CA344346345 | KISS1 | c.*9G>C (n.*9G>C) c.422G>C (p.Gly141Ala) | |
1 | g.204190475C>T | CA344346344 | KISS1 | c.*9G>A (n.*9G>A) c.422G>A (p.Gly141Asp) | gnomAD v4 |
1 | g.204190487_204190488insACCCGCCCCTGCGCCCTCAG | CA1345107 | KISS1 | c.*9_*10insGGCGGGTCTGAGGGCGCAGG (n.*9_*10insGGCGGGTCTGAGGGCGCAGG) c.422_423insGGCGGGTCTGAGGGCGCAGG | dbSNP ExAC |
1 | g.204190475_204190495delinsCCTGCGCCCTCAGCCCCGCCC | CA1148286669 | KISS1 | c.406_*9delinsGGGCGGGGCTGAGGGCGCAGG (n.[c.406_*9delinsGGGCGGGGCTGAGGGCGCAGG;Gly136=]) c.406_422delinsGGGCGGGGCTGAGGGCGCAGG | |
1 | g.204190476_204190495dup | CA1345106 | KISS1 | c.407_*9dup (n.407_*9dup) c.407_422dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204190476C>A | CA344346349 | KISS1 | c.*8G>T (n.*8G>T) c.421G>T (p.Gly141Cys) | gnomAD v4 |
1 | g.204190476C= | CA2482070169 | KISS1 | c.*8G= (n.*8G=) c.421G= (p.Gly141=) | |
1 | g.204190476C>G | CA344346347 | KISS1 | c.*8G>C (n.*8G>C) c.421G>C (p.Gly141Arg) | dbSNP gnomAD v2 |
1 | g.204190476C>T | CA344346348 | KISS1 | c.*8G>A (n.*8G>A) c.421G>A (p.Gly141Ser) | gnomAD v4 |
1 | g.204190477T>A | CA2747426758 | KISS1 | c.*7A>T (n.*7A>T) c.420A>T (p.Ala140=) | |
1 | g.204190477T>C | CA2650015084 | KISS1 | c.*7A>G (n.*7A>G) c.420A>G (p.Ala140=) | gnomAD v4 |
1 | g.204190478G>A | CA344346350 | KISS1 | c.*6C>T (n.*6C>T) c.419C>T (p.Ala140Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190478G>C | CA344346351 | KISS1 | c.*6C>G (n.*6C>G) c.419C>G (p.Ala140Gly) | |
1 | g.204190478G= | CA2482070170 | KISS1 | c.*6C= (n.*6C=) c.419C= (p.Ala140=) | |
1 | g.204190478G>T | CA344346352 | KISS1 | c.*6C>A (n.*6C>A) c.419C>A (p.Ala140Glu) | gnomAD v4 |
1 | g.204190479C>A | CA344346353 | KISS1 | c.*5G>T (n.*5G>T) c.418G>T (p.Ala140Ser) | gnomAD v4 |
1 | g.204190479C>G | CA344346354 | KISS1 | c.*5G>C (n.*5G>C) c.418G>C (p.Ala140Pro) | |
1 | g.204190479C>T | CA344346355 | KISS1 | c.*5G>A (n.*5G>A) c.418G>A (p.Ala140Thr) | gnomAD v4 |
1 | g.204190480G>A | CA2650015085 | KISS1 | c.*4C>T (n.*4C>T) c.417C>T (p.Gly139=) | gnomAD v4 |
1 | g.204190480G>T | CA2650015086 | KISS1 | c.*4C>A (n.*4C>A) c.417C>A (p.Gly139=) | gnomAD v4 |
1 | g.204190480_204190481delinsGC | CA2482070171 | KISS1 | c.*3_*4delinsGC (n.*3_*4delinsGC) c.416_417delinsGC (p.Gly139=) | |
1 | g.204190481C>A | CA344346356 | KISS1 | c.*3G>T (n.*3G>T) c.416G>T (p.Gly139Val) | gnomAD v4 |
1 | g.204190481C= | CA2482070172 | KISS1 | c.*3G= (n.*3G=) c.416G= (p.Gly139=) | |
1 | g.204190481C>G | CA344346357 | KISS1 | c.*3G>C (n.*3G>C) c.416G>C (p.Gly139Ala) | |
1 | g.204190481C>T | CA344346358 | KISS1 | c.*3G>A (n.*3G>A) c.416G>A (p.Gly139Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190483del | CA528532132 | KISS1 | c.*3del (n.*3del) c.416del | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190482C>A | CA344346361 | KISS1 | c.*2G>T (n.*2G>T) c.415G>T (p.Gly139Cys) | gnomAD v4 |
1 | g.204190482C= | CA2482070173 | KISS1 | c.*2G= (n.*2G=) c.415G= (p.Gly139=) | |
1 | g.204190482C>G | CA344346360 | KISS1 | c.*2G>C (n.*2G>C) c.415G>C (p.Gly139Arg) | |
1 | g.204190482C>T | CA344346359 | KISS1 | c.*2G>A (n.*2G>A) c.415G>A (p.Gly139Ser) | dbSNP gnomAD v4 |
1 | g.204190483C>A | CA344346362 | KISS1 | c.*1G>T (n.*1G>T) c.415-1G>T (n.415-1G>T) | gnomAD v4 |
1 | g.204190483C= | CA2482070175 | KISS1 | c.*1G= (n.*1G=) c.415-1G= (n.415-1G=) | |
1 | g.204190483C>G | CA344346363 | KISS1 | c.*1G>C (n.*1G>C) c.415-1G>C (n.415-1G>C) | |
1 | g.204190483C>T | CA35752129 | KISS1 | c.*1G>A (n.*1G>A) c.415-1G>A (n.415-1G>A) | dbSNP gnomAD v4 |
1 | g.204190483_204190484delinsCT | CA2482070174 | KISS1 | c.417_*1delinsAG (n.[c.417_*1delinsAG;Ter139=]) c.415-2_415-1delinsAG (n.415-2_415-1delinsAG) | |
1 | g.204190484_204190485del | CA2650015087 | KISS1 | c.417_*1del (n.[c.417_*1del;Ter139TrpextTer27]) c.415-2_415-1del (n.415-2_415-1del) | gnomAD v4 |
1 | g.204190484del | CA1345108 | KISS1 | c.417del (p.Ter139TrpextTer8) c.415-2del (n.415-2del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204190484T>A | CA344346364 | KISS1 | c.417A>T (p.Ter139Cys) c.415-2A>T (n.415-2A>T) | gnomAD v4 |
1 | g.204190484T>C | CA344346365 | KISS1 | c.417A>G (p.Ter139Trp) c.415-2A>G (n.415-2A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204190484T>G | CA344346366 | KISS1 | c.417A>C (p.Ter139Cys) c.415-2A>C (n.415-2A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190484T= | CA1140799152 | KISS1 | c.417A= (p.Ter139=) c.415-2A= (n.415-2A=) | |
1 | g.204190485del | CA344346369 | KISS1 | c.416del (p.Ter139=) c.415-3del (n.415-3del) | |
1 | g.204190485C>A | CA344346367 | KISS1 | c.416G>T (p.Ter139Leu) c.415-3G>T (n.415-3G>T) | gnomAD v4 |
1 | g.204190485C= | CA1146965739 | KISS1 | c.416G= (p.Ter139=) c.415-3G= (n.415-3G=) | |
1 | g.204190485C>G | CA1345109 | KISS1 | c.416G>C (p.Ter139Ser) c.415-3G>C (n.415-3G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190485C>T | CA344346368 | KISS1 | c.416G>A (p.Ter139=) c.415-3G>A (n.415-3G>A) | dbSNP gnomAD v2 |
1 | g.204190486A>C | CA344346372 | KISS1 | c.415T>G (p.Ter139Gly) c.414+1T>G (n.414+1T>G) | |
1 | g.204190486A>G | CA344346371 | KISS1 | c.415T>C (p.Ter139Arg) c.414+1T>C (n.414+1T>C) | gnomAD v4 |
1 | g.204190486A>T | CA344346370 | KISS1 | c.415T>A (p.Ter139Arg) c.414+1T>A (n.414+1T>A) | gnomAD v4 |
1 | g.204190487del | CA2747426759 | KISS1 | c.414del (p.Ter139GluextTer8) c.414del (p.Gly139AlafsTer?) | |
1 | g.204190487G>A | CA423119288 | KISS1 | c.414C>T (p.Gly138=) | gnomAD v4 |
1 | g.204190487G>C | CA423119289 | KISS1 | c.414C>G (p.Gly138=) | |
1 | g.204190487G>T | CA423119287 | KISS1 | c.414C>A (p.Gly138=) | gnomAD v4 |
1 | g.204190488C>A | CA344346373 | KISS1 | c.413G>T (p.Gly138Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190488C= | CA1148290302 | KISS1 | c.413G= (p.Gly138=) | |
1 | g.204190488C>G | CA1345110 | KISS1 | c.413G>C (p.Gly138Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190488C>T | CA344346374 | KISS1 | c.413G>A (p.Gly138Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190491del | CA2650015088 | KISS1 | c.413del (p.Gly138AlafsTer9) c.413del (p.Gly138AlafsTer?) | gnomAD v4 |
1 | g.204190489C>A | CA344346375 | KISS1 | c.412G>T (p.Gly138Cys) | gnomAD v4 |
1 | g.204190489C= | CA2482070176 | KISS1 | c.412G= (p.Gly138=) | |
1 | g.204190489C>G | CA344346376 | KISS1 | c.412G>C (p.Gly138Arg) | |
1 | g.204190489C>T | CA344346377 | KISS1 | c.412G>A (p.Gly138Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190490C>A | CA423119290 | KISS1 | c.411G>T (p.Arg137=) | gnomAD v4 |
1 | g.204190490C= | CA2482070177 | KISS1 | c.411G= (p.Arg137=) | |
1 | g.204190490C>G | CA423119291 | KISS1 | c.411G>C (p.Arg137=) | |
1 | g.204190490C>T | CA423119292 | KISS1 | c.411G>A (p.Arg137=) | dbSNP gnomAD v2 |
1 | g.204190491C>A | CA344346378 | KISS1 | c.410G>T (p.Arg137Leu) | gnomAD v4 |
1 | g.204190491C= | CA2482070178 | KISS1 | c.410G= (p.Arg137=) | |
1 | g.204190491C>G | CA344346379 | KISS1 | c.410G>C (p.Arg137Pro) | |
1 | g.204190491C>T | CA1345111 | KISS1 | c.410G>A (p.Arg137Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190492G>A | CA344346380 | KISS1 | c.409C>T (p.Arg137Trp) | gnomAD v4 |
1 | g.204190492G>C | CA344346381 | KISS1 | c.409C>G (p.Arg137Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190492G= | CA2482070179 | KISS1 | c.409C= (p.Arg137=) | |
1 | g.204190492G>T | CA423119293 | KISS1 | c.409C>A (p.Arg137=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190493C>A | CA423119294 | KISS1 | c.408G>T (p.Gly136=) | gnomAD v4 |
1 | g.204190493C>G | CA423119295 | KISS1 | c.408G>C (p.Gly136=) | |
1 | g.204190493C>T | CA423119296 | KISS1 | c.408G>A (p.Gly136=) | |
1 | g.204190495_204190496insCTGCGCCCTCAGCCCCACCC | CA528532133 | KISS1 | c.408_409insTGGGGCTGAGGGCGCAGGGG (p.Arg137TrpfsTer3) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190494C>A | CA344346384 | KISS1 | c.407G>T (p.Gly136Val) | gnomAD v4 |
1 | g.204190494C= | CA2482070180 | KISS1 | c.407G= (p.Gly136=) | |
1 | g.204190494C>G | CA344346383 | KISS1 | c.407G>C (p.Gly136Ala) | |
1 | g.204190494C>T | CA344346382 | KISS1 | c.407G>A (p.Gly136Glu) | dbSNP gnomAD v4 |
1 | g.204190495C>A | CA344346385 | KISS1 | c.406G>T (p.Gly136Trp) | gnomAD v4 |
1 | g.204190495C= | CA2482070181 | KISS1 | c.406G= (p.Gly136=) | |
1 | g.204190495C>G | CA344346386 | KISS1 | c.406G>C (p.Gly136Arg) | gnomAD v4 |
1 | g.204190495C>T | CA344346387 | KISS1 | c.406G>A (p.Gly136Arg) | dbSNP gnomAD v4 |
1 | g.204190496A>C | CA423119297 | KISS1 | c.405T>G (p.Ala135=) | |
1 | g.204190496A>G | CA423119298 | KISS1 | c.405T>C (p.Ala135=) | |
1 | g.204190496A>T | CA423119299 | KISS1 | c.405T>A (p.Ala135=) | |
1 | g.204190497G>A | CA344346388 | KISS1 | c.404C>T (p.Ala135Val) | |
1 | g.204190497G>C | CA344346389 | KISS1 | c.404C>G (p.Ala135Gly) | |
1 | g.204190497G>T | CA344346390 | KISS1 | c.404C>A (p.Ala135Asp) | gnomAD v4 |
1 | g.204190498C>A | CA1345112 | KISS1 | c.403G>T (p.Ala135Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190498C= | CA2482070182 | KISS1 | c.403G= (p.Ala135=) | |
1 | g.204190498C>G | CA344346391 | KISS1 | c.403G>C (p.Ala135Pro) | |
1 | g.204190498C>T | CA344346392 | KISS1 | c.403G>A (p.Ala135Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190499G>A | CA423119300 | KISS1 | c.402C>T (p.Ser134=) | gnomAD v4 |
1 | g.204190499G>C | CA35752137 | KISS1 | c.402C>G (p.Ser134Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190499G= | CA1143713487 | KISS1 | c.402C= (p.Ser134=) | |
1 | g.204190499G>T | CA344346393 | KISS1 | c.402C>A (p.Ser134Arg) | gnomAD v4 |
1 | g.204190500C>A | CA344346395 | KISS1 | c.401G>T (p.Ser134Ile) | |
1 | g.204190500C= | CA2482070183 | KISS1 | c.401G= (p.Ser134=) | |
1 | g.204190500C>G | CA35752140 | KISS1 | c.401G>C (p.Ser134Thr) | dbSNP |
1 | g.204190500C>T | CA344346394 | KISS1 | c.401G>A (p.Ser134Asn) | dbSNP gnomAD v2 |
1 | g.204190501T>A | CA344346396 | KISS1 | c.400A>T (p.Ser134Cys) | gnomAD v4 |
1 | g.204190501T>C | CA344346397 | KISS1 | c.400A>G (p.Ser134Gly) | |
1 | g.204190501T>G | CA344346398 | KISS1 | c.400A>C (p.Ser134Arg) | |
1 | g.204190502T>A | CA344346399 | KISS1 | c.399A>T (p.Arg133Ser) | |
1 | g.204190502T>C | CA423119301 | KISS1 | c.399A>G (p.Arg133=) | gnomAD v4 |
1 | g.204190502T>G | CA344346400 | KISS1 | c.399A>C (p.Arg133Ser) | |
1 | g.204190503C>A | CA344346403 | KISS1 | c.398G>T (p.Arg133Ile) | gnomAD v4 |
1 | g.204190503C>G | CA344346402 | KISS1 | c.398G>C (p.Arg133Thr) | |
1 | g.204190503C>T | CA344346401 | KISS1 | c.398G>A (p.Arg133Lys) | |
1 | g.204190504T>A | CA344346404 | KISS1 | c.397A>T (p.Arg133Ter) | |
1 | g.204190504T>C | CA344346405 | KISS1 | c.397A>G (p.Arg133Gly) | dbSNP |
1 | g.204190504T>G | CA423119302 | KISS1 | c.397A>C (p.Arg133=) | dbSNP |
1 | g.204190504T= | CA2482070184 | KISS1 | c.397A= (p.Arg133=) | |
1 | g.204190505G>A | CA1345113 | KISS1 | c.396C>T (p.Gly132=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190505G>C | CA423119303 | KISS1 | c.396C>G (p.Gly132=) | |
1 | g.204190505G= | CA1149135745 | KISS1 | c.396C= (p.Gly132=) | |
1 | g.204190505G>T | CA423119304 | KISS1 | c.396C>A (p.Gly132=) | gnomAD v4 |
1 | g.204190505_204190506delinsGC | CA2482070185 | KISS1 | c.395_396delinsGC (p.Gly132=) | |
1 | g.204190506C>A | CA344346406 | KISS1 | c.395G>T (p.Gly132Val) | gnomAD v4 |
1 | g.204190506C= | CA2482070187 | KISS1 | c.395G= (p.Gly132=) | |
1 | g.204190506C>G | CA344346407 | KISS1 | c.395G>C (p.Gly132Ala) | |
1 | g.204190506C>T | CA344346408 | KISS1 | c.395G>A (p.Gly132Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190507del | CA2482070186 | KISS1 | c.395del (p.Gly132AlafsTer15) c.395del (p.Gly132AlafsTer?) | dbSNP gnomAD v4 |
1 | g.204190507C>A | CA35752142 | KISS1 | c.394G>T (p.Gly132Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190507C= | CA2482070188 | KISS1 | c.394G= (p.Gly132=) | |
1 | g.204190507C>G | CA344346409 | KISS1 | c.394G>C (p.Gly132Arg) | dbSNP gnomAD v4 |
1 | g.204190507C>T | CA344346410 | KISS1 | c.394G>A (p.Gly132Ser) | dbSNP gnomAD v4 |
1 | g.204190508G>A | CA1345114 | KISS1 | c.393C>T (p.His131=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190508G>C | CA344346411 | KISS1 | c.393C>G (p.His131Gln) | gnomAD v4 |
1 | g.204190508G= | CA2482070189 | KISS1 | c.393C= (p.His131=) | |
1 | g.204190508G>T | CA344346412 | KISS1 | c.393C>A (p.His131Gln) | gnomAD v4 |
1 | g.204190509T>A | CA344346413 | KISS1 | c.392A>T (p.His131Leu) | gnomAD v3 gnomAD v4 |
1 | g.204190509T>C | CA344346414 | KISS1 | c.392A>G (p.His131Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190509T>G | CA344346415 | KISS1 | c.392A>C (p.His131Pro) | |
1 | g.204190509T= | CA2482070190 | KISS1 | c.392A= (p.His131=) | |
1 | g.204190510G>A | CA344346416 | KISS1 | c.391C>T (p.His131Tyr) | |
1 | g.204190510G>C | CA344346417 | KISS1 | c.391C>G (p.His131Asp) | |
1 | g.204190510G>T | CA344346418 | KISS1 | c.391C>A (p.His131Asn) | gnomAD v4 |
1 | g.204190511G>A | CA1345115 | KISS1 | c.390C>T (p.Asn130=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190511G>C | CA344346419 | KISS1 | c.390C>G (p.Asn130Lys) | |
1 | g.204190511G= | CA2482070191 | KISS1 | c.390C= (p.Asn130=) | |
1 | g.204190511G>T | CA344346420 | KISS1 | c.390C>A (p.Asn130Lys) | gnomAD v4 |
1 | g.204190512T>A | CA344346421 | KISS1 | c.389A>T (p.Asn130Ile) | |
1 | g.204190512T>C | CA344346423 | KISS1 | c.389A>G (p.Asn130Ser) | |
1 | g.204190512T>G | CA344346422 | KISS1 | c.389A>C (p.Asn130Thr) | |
1 | g.204190513T>A | CA344346424 | KISS1 | c.388A>T (p.Asn130Tyr) | |
1 | g.204190513T>C | CA344346425 | KISS1 | c.388A>G (p.Asn130Asp) | gnomAD v4 |
1 | g.204190513T>G | CA344346426 | KISS1 | c.388A>C (p.Asn130His) | |
1 | g.204190514C>A | CA423119305 | KISS1 | c.387G>T (p.Gly129=) | gnomAD v4 |
1 | g.204190514C>G | CA423119307 | KISS1 | c.387G>C (p.Gly129=) | |
1 | g.204190514C>T | CA423119306 | KISS1 | c.387G>A (p.Gly129=) | |
1 | g.204190516del | CA2522799938 | KISS1 | c.387del (p.Asn130ThrfsTer17) c.387del (p.Asn130ThrfsTer?) | |
1 | g.204190515C>A | CA344346427 | KISS1 | c.386G>T (p.Gly129Val) | gnomAD v4 |
1 | g.204190515C>G | CA344346428 | KISS1 | c.386G>C (p.Gly129Ala) | |
1 | g.204190515C>T | CA344346429 | KISS1 | c.386G>A (p.Gly129Glu) | gnomAD v4 COSMIC |
1 | g.204190516C>A | CA344346430 | KISS1 | c.385G>T (p.Gly129Trp) | gnomAD v4 |
1 | g.204190516C= | CA2482070192 | KISS1 | c.385G= (p.Gly129=) | |
1 | g.204190516C>G | CA344346431 | KISS1 | c.385G>C (p.Gly129Arg) | |
1 | g.204190516C>T | CA344346432 | KISS1 | c.385G>A (p.Gly129Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190517T>A | CA423119308 | KISS1 | c.384A>T (p.Pro128=) | |
1 | g.204190517T>C | CA35752146 | KISS1 | c.384A>G (p.Pro128=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190517T>G | CA423119309 | KISS1 | c.384A>C (p.Pro128=) | dbSNP |
1 | g.204190517T= | CA2482070193 | KISS1 | c.384A= (p.Pro128=) | |
1 | g.204190518G>A | CA344346433 | KISS1 | c.383C>T (p.Pro128Leu) | gnomAD v4 |
1 | g.204190518G>C | CA344346434 | KISS1 | c.383C>G (p.Pro128Arg) | |
1 | g.204190518G>T | CA344346435 | KISS1 | c.383C>A (p.Pro128Gln) | gnomAD v4 |
1 | g.204190519G>A | CA344346437 | KISS1 | c.382C>T (p.Pro128Ser) | |
1 | g.204190519G>C | CA1345116 | KISS1 | c.382C>G (p.Pro128Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190519G= | CA1148473124 | KISS1 | c.382C= (p.Pro128=) | |
1 | g.204190519G>T | CA344346436 | KISS1 | c.382C>A (p.Pro128Thr) | gnomAD v4 |
1 | g.204190520T>A | CA423119313 | KISS1 | c.381A>T (p.Ala127=) | |
1 | g.204190520T>C | CA423119314 | KISS1 | c.381A>G (p.Ala127=) | |
1 | g.204190520T>G | CA423119315 | KISS1 | c.381A>C (p.Ala127=) | |
1 | g.204190520dup | CA2573986373 | KISS1 | c.381dup (p.Pro128ThrfsTer?) | |
1 | g.204190521G>A | CA344346438 | KISS1 | c.380C>T (p.Ala127Val) | gnomAD v4 |
1 | g.204190521G>C | CA344346439 | KISS1 | c.380C>G (p.Ala127Gly) | |
1 | g.204190521G>T | CA344346440 | KISS1 | c.380C>A (p.Ala127Glu) | gnomAD v4 |
1 | g.204190522C>A | CA344346441 | KISS1 | c.379G>T (p.Ala127Ser) | |
1 | g.204190522C>G | CA344346442 | KISS1 | c.379G>C (p.Ala127Pro) | |
1 | g.204190522C>T | CA344346443 | KISS1 | c.379G>A (p.Ala127Thr) | gnomAD v4 |
1 | g.204190523C>A | CA423119317 | KISS1 | c.378G>T (p.Ala126=) | gnomAD v4 |
1 | g.204190523C>G | CA423119318 | KISS1 | c.378G>C (p.Ala126=) | gnomAD v4 |
1 | g.204190523C>T | CA423119319 | KISS1 | c.378G>A (p.Ala126=) | gnomAD v4 |
1 | g.204190524G>A | CA344346444 | KISS1 | c.377C>T (p.Ala126Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190524G>C | CA344346445 | KISS1 | c.377C>G (p.Ala126Gly) | |
1 | g.204190524G= | CA2482070194 | KISS1 | c.377C= (p.Ala126=) | |
1 | g.204190524G>T | CA344346446 | KISS1 | c.377C>A (p.Ala126Glu) | gnomAD v4 |
1 | g.204190525C>A | CA344346447 | KISS1 | c.376G>T (p.Ala126Ser) | |
1 | g.204190525C>G | CA344346448 | KISS1 | c.376G>C (p.Ala126Pro) | |
1 | g.204190525C>T | CA344346449 | KISS1 | c.376G>A (p.Ala126Thr) | |
1 | g.204190526C>A | CA344346451 | KISS1 | c.375G>T (p.Glu125Asp) | |
1 | g.204190526C= | CA2482070195 | KISS1 | c.375G= (p.Glu125=) | |
1 | g.204190526C>G | CA344346450 | KISS1 | c.375G>C (p.Glu125Asp) | |
1 | g.204190526C>T | CA35752150 | KISS1 | c.375G>A (p.Glu125=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190527T>A | CA344346452 | KISS1 | c.374A>T (p.Glu125Val) | |
1 | g.204190527T>C | CA344346453 | KISS1 | c.374A>G (p.Glu125Gly) | gnomAD v4 |
1 | g.204190527T>G | CA344346454 | KISS1 | c.374A>C (p.Glu125Ala) | |
1 | g.204190528C>A | CA344346455 | KISS1 | c.373G>T (p.Glu125Ter) | |
1 | g.204190528C= | CA2482070196 | KISS1 | c.373G= (p.Glu125=) | |
1 | g.204190528C>G | CA344346456 | KISS1 | c.373G>C (p.Glu125Gln) | |
1 | g.204190528C>T | CA1345117 | KISS1 | c.373G>A (p.Glu125Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190530del | CA2650015089 | KISS1 | c.373del (p.Glu125ArgfsTer22) c.373del (p.Glu125ArgfsTer?) | gnomAD v4 |
1 | g.204190529C>A | CA423119324 | KISS1 | c.372G>T (p.Arg124=) | gnomAD v4 |
1 | g.204190529C>G | CA423119323 | KISS1 | c.372G>C (p.Arg124=) | gnomAD v4 |
1 | g.204190529C>T | CA423119322 | KISS1 | c.372G>A (p.Arg124=) | |
1 | g.204190530C>A | CA344346457 | KISS1 | c.371G>T (p.Arg124Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190530C= | CA2482070197 | KISS1 | c.371G= (p.Arg124=) | |
1 | g.204190530C>G | CA344346458 | KISS1 | c.371G>C (p.Arg124Pro) | gnomAD v4 |
1 | g.204190530C>T | CA344346459 | KISS1 | c.371G>A (p.Arg124Gln) | gnomAD v4 |
1 | g.204190531G>A | CA344346460 | KISS1 | c.370C>T (p.Arg124Trp) | gnomAD v4 |
1 | g.204190531G>C | CA344346461 | KISS1 | c.370C>G (p.Arg124Gly) | |
1 | g.204190531G= | CA2482070198 | KISS1 | c.370C= (p.Arg124=) | |
1 | g.204190531G>T | CA423119325 | KISS1 | c.370C>A (p.Arg124=) | dbSNP gnomAD v4 |
1 | g.204190532C>A | CA344346462 | KISS1 | c.369G>T (p.Lys123Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190532C= | CA2482070199 | KISS1 | c.369G= (p.Lys123=) | |
1 | g.204190532C>G | CA344346463 | KISS1 | c.369G>C (p.Lys123Asn) | |
1 | g.204190532C>T | CA423119329 | KISS1 | c.369G>A (p.Lys123=) | dbSNP gnomAD v2 |
1 | g.204190533T>A | CA344346466 | KISS1 | c.368A>T (p.Lys123Met) | |
1 | g.204190533T>C | CA344346465 | KISS1 | c.368A>G (p.Lys123Arg) | dbSNP gnomAD v4 |
1 | g.204190533T>G | CA344346464 | KISS1 | c.368A>C (p.Lys123Thr) | |
1 | g.204190533T= | CA2482070200 | KISS1 | c.368A= (p.Lys123=) | |
1 | g.204190534T>A | CA344346467 | KISS1 | c.367A>T (p.Lys123Ter) | |
1 | g.204190534T>C | CA344346468 | KISS1 | c.367A>G (p.Lys123Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190534T>G | CA344346469 | KISS1 | c.367A>C (p.Lys123Gln) | |
1 | g.204190534T= | CA2482070201 | KISS1 | c.367A= (p.Lys123=) | |
1 | g.204190535G>A | CA423119332 | KISS1 | c.366C>T (p.Gly122=) | gnomAD v4 |
1 | g.204190535G>C | CA423119333 | KISS1 | c.366C>G (p.Gly122=) | |
1 | g.204190535G>T | CA423119334 | KISS1 | c.366C>A (p.Gly122=) | gnomAD v4 |
1 | g.204190536C>A | CA344346470 | KISS1 | c.365G>T (p.Gly122Val) | gnomAD v4 |
1 | g.204190536C>G | CA344346471 | KISS1 | c.365G>C (p.Gly122Ala) | |
1 | g.204190536C>T | CA344346472 | KISS1 | c.365G>A (p.Gly122Asp) | gnomAD v4 |
1 | g.204190537C>A | CA344346473 | KISS1 | c.364G>T (p.Gly122Cys) | |
1 | g.204190537C= | CA2482070202 | KISS1 | c.364G= (p.Gly122=) | |
1 | g.204190537C>G | CA1345118 | KISS1 | c.364G>C (p.Gly122Arg) | dbSNP ExAC gnomAD v4 |
1 | g.204190537C>T | CA344346474 | KISS1 | c.364G>A (p.Gly122Ser) | dbSNP gnomAD v4 |
1 | g.204190538G>A | CA423119338 | KISS1 | c.363C>T (p.Phe121=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.204190538G>C | CA344346475 | KISS1 | c.363C>G (p.Phe121Leu) | |
1 | g.204190538G= | CA2482070203 | KISS1 | c.363C= (p.Phe121=) | |
1 | g.204190538G>T | CA344346476 | KISS1 | c.363C>A (p.Phe121Leu) | gnomAD v4 |
1 | g.204190539A= | CA2482070204 | KISS1 | c.362T= (p.Phe121=) | |
1 | g.204190539A>C | CA344346477 | KISS1 | c.362T>G (p.Phe121Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190539A>G | CA344346478 | KISS1 | c.362T>C (p.Phe121Ser) | |
1 | g.204190539A>T | CA344346479 | KISS1 | c.362T>A (p.Phe121Tyr) | |
1 | g.204190540A>C | CA344346482 | KISS1 | c.361T>G (p.Phe121Val) | |
1 | g.204190540A>G | CA344346481 | KISS1 | c.361T>C (p.Phe121Leu) | |
1 | g.204190540A>T | CA344346480 | KISS1 | c.361T>A (p.Phe121Ile) | |
1 | g.204190540_204190543delinsAGCG | CA2482070205 | KISS1 | c.358_361delinsCGCT (p.Arg120=) | |
1 | g.204190541G>A | CA423119342 | KISS1 | c.360C>T (p.Arg120=) | gnomAD v4 |
1 | g.204190541G>C | CA423119343 | KISS1 | c.360C>G (p.Arg120=) | |
1 | g.204190541G>T | CA423119344 | KISS1 | c.360C>A (p.Arg120=) | gnomAD v4 |
1 | g.204190541_204190543del | CA35752154 | KISS1 | c.358_360del (p.Arg120del) | dbSNP |
1 | g.204190542C>A | CA344346483 | KISS1 | c.359G>T (p.Arg120Leu) | |
1 | g.204190542C= | CA2482070206 | KISS1 | c.359G= (p.Arg120=) | |
1 | g.204190542C>G | CA344346484 | KISS1 | c.359G>C (p.Arg120Pro) | gnomAD v4 |
1 | g.204190542C>T | CA344346485 | KISS1 | c.359G>A (p.Arg120His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190543G>A | CA344346486 | KISS1 | c.358C>T (p.Arg120Cys) | gnomAD v4 |
1 | g.204190543G>C | CA344346487 | KISS1 | c.358C>G (p.Arg120Gly) | |
1 | g.204190543G= | CA2482070207 | KISS1 | c.358C= (p.Arg120=) | |
1 | g.204190543G>T | CA1345119 | KISS1 | c.358C>A (p.Arg120Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190544C>A | CA423119346 | KISS1 | c.357G>T (p.Leu119=) | |
1 | g.204190544C= | CA2482070208 | KISS1 | c.357G= (p.Leu119=) | |
1 | g.204190544C>G | CA423119347 | KISS1 | c.357G>C (p.Leu119=) | |
1 | g.204190544C>T | CA423119348 | KISS1 | c.357G>A (p.Leu119=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190545A= | CA2482070209 | KISS1 | c.356T= (p.Leu119=) | |
1 | g.204190545A>C | CA344346490 | KISS1 | c.356T>G (p.Leu119Arg) | |
1 | g.204190545A>G | CA344346489 | KISS1 | c.356T>C (p.Leu119Pro) | gnomAD v4 |
1 | g.204190545A>T | CA344346488 | KISS1 | c.356T>A (p.Leu119Gln) | gnomAD v4 |
1 | g.204190546G>A | CA423119349 | KISS1 | c.355C>T (p.Leu119=) | |
1 | g.204190546G>C | CA344346491 | KISS1 | c.355C>G (p.Leu119Val) | |
1 | g.204190546G>T | CA344346492 | KISS1 | c.355C>A (p.Leu119Met) | |
1 | g.204190546_204190547delinsGG | CA1148717122 | KISS1 | c.354_355delinsCC (p.Gly118=) | |
1 | g.204190547dup | CA1345120 | KISS1 | c.355dup (p.Leu119ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190547G>A | CA423119353 | KISS1 | c.354C>T (p.Gly118=) | COSMIC |
1 | g.204190547G>C | CA423119352 | KISS1 | c.354C>G (p.Gly118=) | |
1 | g.204190547G>T | CA423119351 | KISS1 | c.354C>A (p.Gly118=) | gnomAD v4 |
1 | g.204190548C>A | CA344346493 | KISS1 | c.353G>T (p.Gly118Val) | COSMIC |
1 | g.204190548C>G | CA344346494 | KISS1 | c.353G>C (p.Gly118Ala) | |
1 | g.204190548C>T | CA344346495 | KISS1 | c.353G>A (p.Gly118Asp) | gnomAD v4 |
1 | g.204190549C>A | CA344346496 | KISS1 | c.352G>T (p.Gly118Cys) | |
1 | g.204190549C= | CA2482070210 | KISS1 | c.352G= (p.Gly118=) | |
1 | g.204190549C>G | CA344346498 | KISS1 | c.352G>C (p.Gly118Arg) | dbSNP |
1 | g.204190549C>T | CA344346497 | KISS1 | c.352G>A (p.Gly118Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190550G>A | CA423119355 | KISS1 | c.351C>T (p.Phe117=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.204190550G>C | CA344346499 | KISS1 | c.351C>G (p.Phe117Leu) | |
1 | g.204190550G= | CA2482070211 | KISS1 | c.351C= (p.Phe117=) | |
1 | g.204190550G>T | CA344346500 | KISS1 | c.351C>A (p.Phe117Leu) | gnomAD v4 |
1 | g.204190551A>C | CA344346501 | KISS1 | c.350T>G (p.Phe117Cys) | |
1 | g.204190551A>G | CA344346502 | KISS1 | c.350T>C (p.Phe117Ser) | |
1 | g.204190551A>T | CA344346503 | KISS1 | c.350T>A (p.Phe117Tyr) | |
1 | g.204190552A= | CA1143366998 | KISS1 | c.349T= (p.Phe117=) | |
1 | g.204190552A>C | CA344346504 | KISS1 | c.349T>G (p.Phe117Val) | |
1 | g.204190552A>G | CA1345121 | KISS1 | c.349T>C (p.Phe117Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190552A>T | CA344346505 | KISS1 | c.349T>A (p.Phe117Ile) | |
1 | g.204190553G>A | CA423119359 | KISS1 | c.348C>T (p.Ser116=) | |
1 | g.204190553G>C | CA423119358 | KISS1 | c.348C>G (p.Ser116=) | |
1 | g.204190553G>T | CA423119357 | KISS1 | c.348C>A (p.Ser116=) | |
1 | g.204190554G>A | CA344346506 | KISS1 | c.347C>T (p.Ser116Phe) | dbSNP gnomAD v4 |
1 | g.204190554G>C | CA344346507 | KISS1 | c.347C>G (p.Ser116Cys) | |
1 | g.204190554G= | CA2482070212 | KISS1 | c.347C= (p.Ser116=) | |
1 | g.204190554G>T | CA344346508 | KISS1 | c.347C>A (p.Ser116Tyr) | |
1 | g.204190555A>C | CA344346509 | KISS1 | c.346T>G (p.Ser116Ala) | |
1 | g.204190555A>G | CA344346511 | KISS1 | c.346T>C (p.Ser116Pro) | |
1 | g.204190555A>T | CA344346510 | KISS1 | c.346T>A (p.Ser116Thr) | |
1 | g.204190556G>A | CA423119363 | KISS1 | c.345C>T (p.Asn115=) | |
1 | g.204190556G>C | CA344346512 | KISS1 | c.345C>G (p.Asn115Lys) | |
1 | g.204190556G>T | CA344346513 | KISS1 | c.345C>A (p.Asn115Lys) | gnomAD v4 |
1 | g.204190557T>A | CA344346514 | KISS1 | c.344A>T (p.Asn115Ile) | |
1 | g.204190557T>C | CA344346515 | KISS1 | c.344A>G (p.Asn115Ser) | gnomAD v4 |
1 | g.204190557T>G | CA344346516 | KISS1 | c.344A>C (p.Asn115Thr) | |
1 | g.204190558T>A | CA344346517 | KISS1 | c.343A>T (p.Asn115Tyr) | |
1 | g.204190558T>C | CA344346518 | KISS1 | c.343A>G (p.Asn115Asp) | |
1 | g.204190558T>G | CA344346519 | KISS1 | c.343A>C (p.Asn115His) | |
1 | g.204190558_204190559delinsTC | CA2482070213 | KISS1 | c.342_343delinsGA (p.Trp114=) | |
1 | g.204190559C>A | CA1345122 | KISS1 | c.342G>T (p.Trp114Cys) | dbSNP ExAC gnomAD v2 |
1 | g.204190559C= | CA2482070215 | KISS1 | c.342G= (p.Trp114=) | |
1 | g.204190559C>G | CA344346520 | KISS1 | c.342G>C (p.Trp114Cys) | gnomAD v4 |
1 | g.204190559C>T | CA344346521 | KISS1 | c.342G>A (p.Trp114Ter) | gnomAD v4 |
1 | g.204190560del | CA2482070214 | KISS1 | c.342del (p.Trp114Ter) | dbSNP |
1 | g.204190560C>A | CA344346522 | KISS1 | c.341G>T (p.Trp114Leu) | |
1 | g.204190560C>G | CA344346523 | KISS1 | c.341G>C (p.Trp114Ser) | |
1 | g.204190560C>T | CA344346524 | KISS1 | c.341G>A (p.Trp114Ter) | gnomAD v4 |
1 | g.204190561A= | CA2482070216 | KISS1 | c.340T= (p.Trp114=) | |
1 | g.204190561A>C | CA344346525 | KISS1 | c.340T>G (p.Trp114Gly) | |
1 | g.204190561A>G | CA344346527 | KISS1 | c.340T>C (p.Trp114Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204190561A>T | CA344346526 | KISS1 | c.340T>A (p.Trp114Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.204190562G>A | CA423119368 | KISS1 | c.339C>T (p.Asn113=) | |
1 | g.204190562G>C | CA130229 | KISS1 | c.339C>G (p.Asn113Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204190562G= | CA1148224942 | KISS1 | c.339C= (p.Asn113=) | |
1 | g.204190562G>T | CA344346528 | KISS1 | c.339C>A (p.Asn113Lys) | |
1 | g.204190563T>A | CA344346529 | KISS1 | c.338A>T (p.Asn113Ile) | |
1 | g.204190563T>C | CA1345123 | KISS1 | c.338A>G (p.Asn113Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204190563T>G | CA344346530 | KISS1 | c.338A>C (p.Asn113Thr) | |
1 | g.204190563T= | CA2482070217 | KISS1 | c.338A= (p.Asn113=) |