| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.204190418_204190495del | CA2650014707 | KISS1 | c.414_*74del (n.[c.414_*74del;Ter139ArgextTer16]) | gnomAD v4 |
| 1 | g.204190472_204190527del | CA2650015080 | KISS1 | c.374_*12del (n.[c.374_*12del;Glu125GlyfsTer23]) c.374_425del | gnomAD v4 |
| 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.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=) | |
| 1 | g.204190564T>A | CA344346531 | KISS1 | c.337A>T (p.Asn113Tyr) | |
| 1 | g.204190564T>C | CA344346532 | KISS1 | c.337A>G (p.Asn113Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.204190564T>G | CA344346533 | KISS1 | c.337A>C (p.Asn113His) | |
| 1 | g.204190564T= | CA2482070218 | KISS1 | c.337A= (p.Asn113=) | |
| 1 | g.204190565G>A | CA423119369 | KISS1 | c.336C>T (p.Tyr112=) | |
| 1 | g.204190565G>C | CA344346534 | KISS1 | c.336C>G (p.Tyr112Ter) | |
| 1 | g.204190565G>T | CA344346535 | KISS1 | c.336C>A (p.Tyr112Ter) | gnomAD v4 |
| 1 | g.204190566T>A | CA344346537 | KISS1 | c.335A>T (p.Tyr112Phe) | gnomAD v4 |
| 1 | g.204190566T>C | CA344346538 | KISS1 | c.335A>G (p.Tyr112Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.204190566T>G | CA344346536 | KISS1 | c.335A>C (p.Tyr112Ser) | |
| 1 | g.204190566T= | CA2482070219 | KISS1 | c.335A= (p.Tyr112=) | |
| 1 | g.204190567A>C | CA344346539 | KISS1 | c.334T>G (p.Tyr112Asp) | |
| 1 | g.204190567A>G | CA344346540 | KISS1 | c.334T>C (p.Tyr112His) | gnomAD v4 |
| 1 | g.204190567A>T | CA344346541 | KISS1 | c.334T>A (p.Tyr112Asn) | |
| 1 | g.204190568G>A | CA35752158 | KISS1 | c.333C>T (p.Asn111=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.204190568G>C | CA344346542 | KISS1 | c.333C>G (p.Asn111Lys) | |
| 1 | g.204190568G= | CA2482070220 | KISS1 | c.333C= (p.Asn111=) | |
| 1 | g.204190568G>T | CA344346543 | KISS1 | c.333C>A (p.Asn111Lys) | gnomAD v4 |
| 1 | g.204190569T>A | CA344346544 | KISS1 | c.332A>T (p.Asn111Ile) | |
| 1 | g.204190569T>C | CA344346545 | KISS1 | c.332A>G (p.Asn111Ser) | gnomAD v4 |
| 1 | g.204190569T>G | CA344346546 | KISS1 | c.332A>C (p.Asn111Thr) | |
| 1 | g.204190570dup | CA2650015090 | KISS1 | c.332dup (p.Asn111LysfsTer?) | gnomAD v4 |
| 1 | g.204190570T>A | CA344346547 | KISS1 | c.331A>T (p.Asn111Tyr) | |
| 1 | g.204190570T>C | CA344346548 | KISS1 | c.331A>G (p.Asn111Asp) | |
| 1 | g.204190570T>G | CA344346549 | KISS1 | c.331A>C (p.Asn111His) | |
| 1 | g.204190571C>A | CA423119374 | KISS1 | c.330G>T (p.Pro110=) | gnomAD v4 |
| 1 | g.204190571C= | CA2482070221 | KISS1 | c.330G= (p.Pro110=) | |
| 1 | g.204190571C>G | CA1345125 | KISS1 | c.330G>C (p.Pro110=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204190571C>T | CA1345124 | KISS1 | c.330G>A (p.Pro110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204190572G>A | CA1345126 | KISS1 | c.329C>T (p.Pro110Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.204190572G>C | CA344346551 | KISS1 | c.329C>G (p.Pro110Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.204190572G= | CA2482070222 | KISS1 | c.329C= (p.Pro110=) | |
| 1 | g.204190572G>T | CA344346550 | KISS1 | c.329C>A (p.Pro110Gln) | gnomAD v4 |
| 1 | g.204190573G>A | CA344346552 | KISS1 | c.328C>T (p.Pro110Ser) | gnomAD v4 |
| 1 | g.204190573G>C | CA344346553 | KISS1 | c.328C>G (p.Pro110Ala) | |
| 1 | g.204190573G= | CA1143306565 | KISS1 | c.328C= (p.Pro110=) | |
| 1 | g.204190573G>T | CA1345127 | KISS1 | c.328C>A (p.Pro110Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.204190574C>A | CA423119378 | KISS1 | c.327G>T (p.Leu109=) | gnomAD v4 |
| 1 | g.204190574C>G | CA423119379 | KISS1 | c.327G>C (p.Leu109=) | gnomAD v4 |
| 1 | g.204190574C>T | CA423119380 | KISS1 | c.327G>A (p.Leu109=) | gnomAD v4 |
| 1 | g.204190575A>C | CA344346554 | KISS1 | c.326T>G (p.Leu109Arg) | |
| 1 | g.204190575A>G | CA344346555 | KISS1 | c.326T>C (p.Leu109Pro) | |
| 1 | g.204190575A>T | CA344346556 | KISS1 | c.326T>A (p.Leu109Gln) | |
| 1 | g.204190576G>A | CA423119382 | KISS1 | c.325C>T (p.Leu109=) | dbSNP |
| 1 | g.204190576G>C | CA344346557 | KISS1 | c.325C>G (p.Leu109Val) | |
| 1 | g.204190576G= | CA2482070223 | KISS1 | c.325C= (p.Leu109=) | |
| 1 | g.204190576G>T | CA344346558 | KISS1 | c.325C>A (p.Leu109Met) | gnomAD v4 |
| 1 | g.204190577G>A | CA423119385 | KISS1 | c.324C>T (p.Asp108=) | gnomAD v4 |
| 1 | g.204190577G>C | CA344346559 | KISS1 | c.324C>G (p.Asp108Glu) | |
| 1 | g.204190577G>T | CA344346560 | KISS1 | c.324C>A (p.Asp108Glu) | gnomAD v4 |
| 1 | g.204190578T>A | CA1345128 | KISS1 | c.323A>T (p.Asp108Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.204190578T>C | CA344346561 | KISS1 | c.323A>G (p.Asp108Gly) | |
| 1 | g.204190578T>G | CA35752161 | KISS1 | c.323A>C (p.Asp108Ala) | dbSNP |
| 1 | g.204190578T= | CA1147532503 | KISS1 | c.323A= (p.Asp108=) | |
| 1 | g.204190579C>A | CA344346563 | KISS1 | c.322G>T (p.Asp108Tyr) | |
| 1 | g.204190579C>G | CA344346564 | KISS1 | c.322G>C (p.Asp108His) | gnomAD v4 |
| 1 | g.204190579C>T | CA344346562 | KISS1 | c.322G>A (p.Asp108Asn) | |
| 1 | g.204190580C>A | CA344346566 | KISS1 | c.321G>T (p.Lys107Asn) | gnomAD v4 |
| 1 | g.204190580C>G | CA344346565 | KISS1 | c.321G>C (p.Lys107Asn) | |
| 1 | g.204190580C>T | CA423119389 | KISS1 | c.321G>A (p.Lys107=) | |
| 1 | g.204190582_204190584del | CA2650015091 | KISS1 | c.319_321del (p.Lys107del) | gnomAD v4 |
| 1 | g.204190581T>A | CA344346569 | KISS1 | c.320A>T (p.Lys107Met) | |
| 1 | g.204190581T>C | CA344346567 | KISS1 | c.320A>G (p.Lys107Arg) | |
| 1 | g.204190581T>G | CA344346568 | KISS1 | c.320A>C (p.Lys107Thr) | gnomAD v4 |
| 1 | g.204190582T>A | CA344346570 | KISS1 | c.319A>T (p.Lys107Ter) | |
| 1 | g.204190582T>C | CA344346571 | KISS1 | c.319A>G (p.Lys107Glu) | |
| 1 | g.204190582T>G | CA344346572 | KISS1 | c.319A>C (p.Lys107Gln) | |
| 1 | g.204190583C>A | CA344346573 | KISS1 | c.318G>T (p.Glu106Asp) | gnomAD v4 |
| 1 | g.204190583C>G | CA344346574 | KISS1 | c.318G>C (p.Glu106Asp) | |
| 1 | g.204190583C>T | CA423119390 | KISS1 | c.318G>A (p.Glu106=) | gnomAD v4 |
| 1 | g.204190584T>A | CA344346575 | KISS1 | c.317A>T (p.Glu106Val) | |
| 1 | g.204190584T>C | CA344346576 | KISS1 | c.317A>G (p.Glu106Gly) | gnomAD v4 |
| 1 | g.204190584T>G | CA344346577 | KISS1 | c.317A>C (p.Glu106Ala) | |
| 1 | g.204190585C>A | CA344346578 | KISS1 | c.316G>T (p.Glu106Ter) | gnomAD v4 |
| 1 | g.204190585C= | CA2482070224 | KISS1 | c.316G= (p.Glu106=) | |
| 1 | g.204190585C>G | CA344346579 | KISS1 | c.316G>C (p.Glu106Gln) | gnomAD v4 |
| 1 | g.204190585C>T | CA344346580 | KISS1 | c.316G>A (p.Glu106Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204190586C>A | CA423119392 | KISS1 | c.315G>T (p.Arg105=) | gnomAD v4 |
| 1 | g.204190586C>G | CA423119394 | KISS1 | c.315G>C (p.Arg105=) | |
| 1 | g.204190586C>T | CA423119395 | KISS1 | c.315G>A (p.Arg105=) | |
| 1 | g.204190587C>A | CA344346582 | KISS1 | c.314G>T (p.Arg105Leu) | gnomAD v4 |
| 1 | g.204190587C= | CA2482070225 | KISS1 | c.314G= (p.Arg105=) | |
| 1 | g.204190587C>G | CA35752163 | KISS1 | c.314G>C (p.Arg105Pro) | dbSNP |
| 1 | g.204190587C>T | CA344346581 | KISS1 | c.314G>A (p.Arg105Gln) | gnomAD v4 |
| 1 | g.204190588G>A | CA344346583 | KISS1 | c.313C>T (p.Arg105Trp) | gnomAD v4 |
| 1 | g.204190588G>C | CA344346584 | KISS1 | c.313C>G (p.Arg105Gly) | |
| 1 | g.204190588G>T | CA423119397 | KISS1 | c.313C>A (p.Arg105=) | gnomAD v4 |
| 1 | g.204190589C>A | CA344346585 | KISS1 | c.312G>T (p.Gln104His) | gnomAD v4 COSMIC |
| 1 | g.204190589C>G | CA344346586 | KISS1 | c.312G>C (p.Gln104His) | |
| 1 | g.204190589C>T | CA423119400 | KISS1 | c.312G>A (p.Gln104=) | |
| 1 | g.204190590T>A | CA344346587 | KISS1 | c.311A>T (p.Gln104Leu) | |
| 1 | g.204190590T>C | CA344346588 | KISS1 | c.311A>G (p.Gln104Arg) | |
| 1 | g.204190590T>G | CA344346589 | KISS1 | c.311A>C (p.Gln104Pro) | |
| 1 | g.204190591G>A | CA344346590 | KISS1 | c.310C>T (p.Gln104Ter) | gnomAD v4 |
| 1 | g.204190591G>C | CA344346591 | KISS1 | c.310C>G (p.Gln104Glu) | |
| 1 | g.204190591G>T | CA344346592 | KISS1 | c.310C>A (p.Gln104Lys) | |
| 1 | g.204190592C>A | CA423119401 | KISS1 | c.309G>T (p.Val103=) | gnomAD v4 |
| 1 | g.204190592C= | CA1144178627 | KISS1 | c.309G= (p.Val103=) | |
| 1 | g.204190592C>G | CA423119402 | KISS1 | c.309G>C (p.Val103=) | |
| 1 | g.204190592C>T | CA1345129 | KISS1 | c.309G>A (p.Val103=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.204190593A>C | CA344346593 | KISS1 | c.308T>G (p.Val103Gly) | |
| 1 | g.204190593A>G | CA344346594 | KISS1 | c.308T>C (p.Val103Ala) | |
| 1 | g.204190593A>T | CA344346595 | KISS1 | c.308T>A (p.Val103Glu) | |
| 1 | g.204190594C>A | CA344346598 | KISS1 | c.307G>T (p.Val103Leu) | gnomAD v4 |
| 1 | g.204190594C= | CA2482070226 | KISS1 | c.307G= (p.Val103=) | |
| 1 | g.204190594C>G | CA344346597 | KISS1 | c.307G>C (p.Val103Leu) | |
| 1 | g.204190594C>T | CA344346596 | KISS1 | c.307G>A (p.Val103Met) | dbSNP gnomAD v2 gnomAD v4 |