| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17816846A= | CA2326044678 | INSL3 | c.*8T= (n.*8T=) c.*25T= (n.*25T=) c.425T= | |
| 19 | g.17816846A>C | CA9301219 | INSL3 | c.*8T>G (n.*8T>G) c.*25T>G (n.*25T>G) c.425T>G | dbSNP ExAC gnomAD v2 |
| 19 | g.17816848G>A | CA9301220 | INSL3 | c.*6C>T (n.*6C>T) c.*23C>T (n.*23C>T) c.423C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.17816848G= | CA2326044679 | INSL3 | c.*6C= (n.*6C=) c.*23C= (n.*23C=) c.423C= | |
| 19 | g.17816849A>G | CA2583419016 | INSL3 | c.*5T>C (n.*5T>C) c.*22T>C (n.*22T>C) c.422T>C | gnomAD v4 |
| 19 | g.17816853A= | CA2326044680 | INSL3 | c.*1T= (n.*1T=) c.*18T= (n.*18T=) c.418T= | |
| 19 | g.17816853A>G | CA9301221 | INSL3 | c.*1T>C (n.*1T>C) c.*18T>C (n.*18T>C) c.418T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.17816854T>A | CA404760538 | INSL3 | c.396A>T (p.Ter132Cys) c.*17A>T (n.*17A>T) c.417A>T | |
| 19 | g.17816854T>C | CA404760539 | INSL3 | c.396A>G (p.Ter132Trp) c.*17A>G (n.*17A>G) c.417A>G | |
| 19 | g.17816854T>G | CA404760540 | INSL3 | c.396A>C (p.Ter132Cys) c.*17A>C (n.*17A>C) c.417A>C | |
| 19 | g.17816855C>A | CA404760541 | INSL3 | c.395G>T (p.Ter132Leu) c.*16G>T (n.*16G>T) c.416G>T | |
| 19 | g.17816855C>G | CA404760542 | INSL3 | c.395G>C (p.Ter132Ser) c.*16G>C (n.*16G>C) c.416G>C | |
| 19 | g.17816856A= | CA2326044681 | INSL3 | c.394T= (p.Ter132=) c.*15T= (n.*15T=) c.415T= | |
| 19 | g.17816856A>C | CA404760543 | INSL3 | c.394T>G (p.Ter132Gly) c.*15T>G (n.*15T>G) c.415T>G | |
| 19 | g.17816856A>G | CA404760544 | INSL3 | c.394T>C (p.Ter132Arg) c.*15T>C (n.*15T>C) c.415T>C | dbSNP gnomAD v4 |
| 19 | g.17816856A>T | CA404760545 | INSL3 | c.394T>A (p.Ter132Arg) c.*15T>A (n.*15T>A) c.415T>A | |
| 19 | g.17816857G>C | CA404760546 | INSL3 | c.393C>G (p.Tyr131Ter) c.*14C>G (n.*14C>G) c.414C>G | |
| 19 | g.17816857G>T | CA404760547 | INSL3 | c.393C>A (p.Tyr131Ter) c.*14C>A (n.*14C>A) c.414C>A | |
| 19 | g.17816858T>A | CA404760550 | INSL3 | c.392A>T (p.Tyr131Phe) c.*13A>T (n.*13A>T) c.413A>T | |
| 19 | g.17816858T>C | CA404760548 | INSL3 | c.392A>G (p.Tyr131Cys) c.*13A>G (n.*13A>G) c.413A>G | dbSNP gnomAD v4 |
| 19 | g.17816858T>G | CA404760549 | INSL3 | c.392A>C (p.Tyr131Ser) c.*13A>C (n.*13A>C) c.413A>C | gnomAD v4 |
| 19 | g.17816858T= | CA2326044682 | INSL3 | c.392A= (p.Tyr131=) c.*13A= (n.*13A=) c.413A= | |
| 19 | g.17816859A>C | CA404760551 | INSL3 | c.391T>G (p.Tyr131Asp) c.*12T>G (n.*12T>G) c.412T>G | |
| 19 | g.17816859A>G | CA404760552 | INSL3 | c.391T>C (p.Tyr131His) c.*12T>C (n.*12T>C) c.412T>C | |
| 19 | g.17816859A>T | CA404760553 | INSL3 | c.391T>A (p.Tyr131Asn) c.*12T>A (n.*12T>A) c.412T>A | |
| 19 | g.17816860G>A | CA2581993291 | INSL3 | c.390C>T (p.Pro130=) c.*11C>T (n.*11C>T) c.411C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.17816861G>A | CA404760554 | INSL3 | c.389C>T (p.Pro130Leu) c.*10C>T (n.*10C>T) c.410C>T | COSMIC |
| 19 | g.17816861G>C | CA404760555 | INSL3 | c.389C>G (p.Pro130Arg) c.*10C>G (n.*10C>G) c.410C>G | |
| 19 | g.17816861G>T | CA404760556 | INSL3 | c.389C>A (p.Pro130His) c.*10C>A (n.*10C>A) c.410C>A | |
| 19 | g.17816862G>A | CA404760557 | INSL3 | c.388C>T (p.Pro130Ser) c.*9C>T (n.*9C>T) c.409C>T | gnomAD v4 |
| 19 | g.17816862G>C | CA404760558 | INSL3 | c.388C>G (p.Pro130Ala) c.*9C>G (n.*9C>G) c.409C>G | |
| 19 | g.17816862G>T | CA404760559 | INSL3 | c.388C>A (p.Pro130Thr) c.*9C>A (n.*9C>A) c.409C>A | gnomAD v4 |
| 19 | g.17816863A>C | CA404760560 | INSL3 | c.387T>G (p.Cys129Trp) c.*8T>G (n.*8T>G) c.408T>G | |
| 19 | g.17816863A>T | CA404760561 | INSL3 | c.387T>A (p.Cys129Ter) c.*8T>A (n.*8T>A) c.408T>A | |
| 19 | g.17816864C>A | CA404760564 | INSL3 | c.386G>T (p.Cys129Phe) c.*7G>T (n.*7G>T) c.407G>T | |
| 19 | g.17816864C= | CA2326044683 | INSL3 | c.386G= (p.Cys129=) c.*7G= (n.*7G=) c.407G= | |
| 19 | g.17816864C>G | CA404760563 | INSL3 | c.386G>C (p.Cys129Ser) c.*7G>C (n.*7G>C) c.407G>C | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.17816864C>T | CA404760562 | INSL3 | c.386G>A (p.Cys129Tyr) c.*7G>A (n.*7G>A) c.407G>A | gnomAD v4 |
| 19 | g.17816865A>C | CA404760565 | INSL3 | c.385T>G (p.Cys129Gly) c.*6T>G (n.*6T>G) c.406T>G | |
| 19 | g.17816865A>G | CA404760566 | INSL3 | c.385T>C (p.Cys129Arg) c.*6T>C (n.*6T>C) c.406T>C | |
| 19 | g.17816865A>T | CA404760567 | INSL3 | c.385T>A (p.Cys129Ser) c.*6T>A (n.*6T>A) c.406T>A | |
| 19 | g.17816866G>A | CA2576716958 | INSL3 | c.384C>T (p.Leu128=) c.*5C>T (n.*5C>T) c.405C>T | |
| 19 | g.17816867A>C | CA404760568 | INSL3 | c.383T>G (p.Leu128Arg) c.*4T>G (n.*4T>G) c.404T>G | |
| 19 | g.17816867A>G | CA404760569 | INSL3 | c.383T>C (p.Leu128Pro) c.*4T>C (n.*4T>C) c.404T>C | gnomAD v4 |
| 19 | g.17816867A>T | CA404760570 | INSL3 | c.383T>A (p.Leu128His) c.*4T>A (n.*4T>A) c.404T>A | |
| 19 | g.17816868G>A | CA404760571 | INSL3 | c.382C>T (p.Leu128Phe) c.*3C>T (n.*3C>T) c.403C>T | |
| 19 | g.17816868G>C | CA404760572 | INSL3 | c.382C>G (p.Leu128Val) c.*3C>G (n.*3C>G) c.403C>G | |
| 19 | g.17816868G>T | CA404760573 | INSL3 | c.382C>A (p.Leu128Ile) c.*3C>A (n.*3C>A) c.403C>A | |
| 19 | g.17816870dup | CA2583419017 | INSL3 | c.382dup (p.Leu128ProfsTer27) c.*3dup (n.*3dup) c.403dup | gnomAD v4 |
| 19 | g.17816870G>A | CA404760574 | INSL3 | c.380C>T (p.Thr127Ile) c.*1C>T (n.*1C>T) c.401C>T | ClinVar gnomAD v4 |