| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56879069_56879070del | CA2517700156 | SLC12A3 | c.1181-4_1181-3del (n.1181-4_1181-3del) c.1178-4_1178-3del (n.1178-4_1178-3del) | |
| 16 | g.56879068C= | CA2224353723 | SLC12A3 | c.1181-5C= (n.1181-5C=) c.1178-5C= (n.1178-5C=) | |
| 16 | g.56879068C>G | CA2633379098 | SLC12A3 | c.1181-5C>G (n.1181-5C>G) c.1178-5C>G (n.1178-5C>G) | gnomAD v4 |
| 16 | g.56879068C>T | CA622336321 | SLC12A3 | c.1181-5C>T (n.1181-5C>T) c.1178-5C>T (n.1178-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879069T>C | CA622336322 | SLC12A3 | c.1181-4T>C (n.1181-4T>C) c.1178-4T>C (n.1178-4T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879069T>G | CA2499223591 | SLC12A3 | c.1181-4T>G (n.1181-4T>G) c.1178-4T>G (n.1178-4T>G) | ClinVar dbSNP gnomAD v4 |
| 16 | g.56879069T= | CA2224353724 | SLC12A3 | c.1181-4T= (n.1181-4T=) c.1178-4T= (n.1178-4T=) | |
| 16 | g.56879070C>A | CA2633379117 | SLC12A3 | c.1181-3C>A (n.1181-3C>A) c.1178-3C>A (n.1178-3C>A) | gnomAD v4 |
| 16 | g.56879071A>C | CA395985471 | SLC12A3 | c.1181-2A>C (n.1181-2A>C) c.1178-2A>C (n.1178-2A>C) | |
| 16 | g.56879071A>G | CA395985467 | SLC12A3 | c.1181-2A>G (n.1181-2A>G) c.1178-2A>G (n.1178-2A>G) | gnomAD v4 |
| 16 | g.56879071A>T | CA395985463 | SLC12A3 | c.1181-2A>T (n.1181-2A>T) c.1178-2A>T (n.1178-2A>T) | |
| 16 | g.56879072G>A | CA395985476 | SLC12A3 | c.1181-1G>A (n.1181-1G>A) c.1178-1G>A (n.1178-1G>A) | |
| 16 | g.56879072G>C | CA395985477 | SLC12A3 | c.1181-1G>C (n.1181-1G>C) c.1178-1G>C (n.1178-1G>C) | |
| 16 | g.56879072G>T | CA395985481 | SLC12A3 | c.1181-1G>T (n.1181-1G>T) c.1178-1G>T (n.1178-1G>T) | |
| 16 | g.56879073G>A | CA8069390 | SLC12A3 | c.1181G>A (p.Gly394Asp) c.1178G>A (p.Gly393Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879073G>C | CA395985488 | SLC12A3 | c.1181G>C (p.Gly394Ala) c.1178G>C (p.Gly393Ala) | gnomAD v4 |
| 16 | g.56879073G= | CA2224353725 | SLC12A3 | c.1181G= (p.Gly394=) c.1178G= (p.Gly393=) | |
| 16 | g.56879073G>T | CA395985489 | SLC12A3 | c.1181G>T (p.Gly394Val) c.1178G>T (p.Gly393Val) | |
| 16 | g.56879074C>A | CA495603662 | SLC12A3 | c.1182C>A (p.Gly394=) c.1179C>A (p.Gly393=) | |
| 16 | g.56879074C= | CA2224353726 | SLC12A3 | c.1182C= (p.Gly394=) c.1179C= (p.Gly393=) | |
| 16 | g.56879074C>G | CA495603663 | SLC12A3 | c.1182C>G (p.Gly394=) c.1179C>G (p.Gly393=) | |
| 16 | g.56879074C>T | CA495603664 | SLC12A3 | c.1182C>T (p.Gly394=) c.1179C>T (p.Gly393=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56879075T>A | CA395985493 | SLC12A3 | c.1183T>A (p.Ser395Thr) c.1180T>A (p.Ser394Thr) | |
| 16 | g.56879075T>C | CA395985496 | SLC12A3 | c.1183T>C (p.Ser395Pro) c.1180T>C (p.Ser394Pro) | |
| 16 | g.56879075T>G | CA395985498 | SLC12A3 | c.1183T>G (p.Ser395Ala) c.1180T>G (p.Ser394Ala) | |
| 16 | g.56879076C>A | CA395985502 | SLC12A3 | c.1184C>A (p.Ser395Tyr) c.1181C>A (p.Ser394Tyr) | gnomAD v4 |
| 16 | g.56879076C>G | CA395985505 | SLC12A3 | c.1184C>G (p.Ser395Cys) c.1181C>G (p.Ser394Cys) | |
| 16 | g.56879076C>T | CA395985507 | SLC12A3 | c.1184C>T (p.Ser395Phe) c.1181C>T (p.Ser394Phe) | gnomAD v4 |
| 16 | g.56879077C>A | CA495603665 | SLC12A3 | c.1185C>A (p.Ser395=) c.1182C>A (p.Ser394=) | |
| 16 | g.56879077C= | CA2224353727 | SLC12A3 | c.1185C= (p.Ser395=) c.1182C= (p.Ser394=) | |
| 16 | g.56879077C>G | CA495603666 | SLC12A3 | c.1185C>G (p.Ser395=) c.1182C>G (p.Ser394=) | dbSNP gnomAD v2 |
| 16 | g.56879077C>T | CA495603667 | SLC12A3 | c.1185C>T (p.Ser395=) c.1182C>T (p.Ser394=) | |
| 16 | g.56879078T>A | CA395985515 | SLC12A3 | c.1186T>A (p.Cys396Ser) c.1183T>A (p.Cys395Ser) | |
| 16 | g.56879078T>C | CA395985513 | SLC12A3 | c.1186T>C (p.Cys396Arg) c.1183T>C (p.Cys395Arg) | |
| 16 | g.56879078T>G | CA395985510 | SLC12A3 | c.1186T>G (p.Cys396Gly) c.1183T>G (p.Cys395Gly) | |
| 16 | g.56879079G>A | CA395985519 | SLC12A3 | c.1187G>A (p.Cys396Tyr) c.1184G>A (p.Cys395Tyr) | |
| 16 | g.56879079G>C | CA395985521 | SLC12A3 | c.1187G>C (p.Cys396Ser) c.1184G>C (p.Cys395Ser) | |
| 16 | g.56879079G>T | CA395985522 | SLC12A3 | c.1187G>T (p.Cys396Phe) c.1184G>T (p.Cys395Phe) | |
| 16 | g.56879080C>A | CA8069391 | SLC12A3 | c.1188C>A (p.Cys396Ter) c.1185C>A (p.Cys395Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.56879080C= | CA2224353728 | SLC12A3 | c.1188C= (p.Cys396=) c.1185C= (p.Cys395=) | |
| 16 | g.56879080C>G | CA395985537 | SLC12A3 | c.1188C>G (p.Cys396Trp) c.1185C>G (p.Cys395Trp) | |
| 16 | g.56879080C>T | CA281501145 | SLC12A3 | c.1188C>T (p.Cys396=) c.1185C>T (p.Cys395=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879081G>A | CA216088 | SLC12A3 | c.1189G>A (p.Val397Met) c.1186G>A (p.Val396Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879081G>C | CA395985542 | SLC12A3 | c.1189G>C (p.Val397Leu) c.1186G>C (p.Val396Leu) | |
| 16 | g.56879081G= | CA2224353729 | SLC12A3 | c.1189G= (p.Val397=) c.1186G= (p.Val396=) | |
| 16 | g.56879081G>T | CA8069392 | SLC12A3 | c.1189G>T (p.Val397Leu) c.1186G>T (p.Val396Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.56879082T>A | CA395985548 | SLC12A3 | c.1190T>A (p.Val397Glu) c.1187T>A (p.Val396Glu) | |
| 16 | g.56879082T>C | CA395985549 | SLC12A3 | c.1190T>C (p.Val397Ala) c.1187T>C (p.Val396Ala) | |
| 16 | g.56879082T>G | CA395985553 | SLC12A3 | c.1190T>G (p.Val397Gly) c.1187T>G (p.Val396Gly) | |
| 16 | g.56879083G>A | CA8069393 | SLC12A3 | c.1191G>A (p.Val397=) c.1188G>A (p.Val396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |