| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129528948_129528951delinsTCAA | CA1401205643 | RHO | c.215_218delinsTCAA (p.Leu72=) | |
| 3 | g.129528949C>A | CA435768990 | RHO | c.216C>A (p.Leu72=) | gnomAD v4 |
| 3 | g.129528949C>G | CA435768991 | RHO | c.216C>G (p.Leu72=) | |
| 3 | g.129528949C>T | CA435768993 | RHO | c.216C>T (p.Leu72=) | gnomAD v4 |
| 3 | g.129528950_129528952del | CA266222 | RHO | c.217_219del (p.Asn73del) | ClinVar dbSNP |
| 3 | g.129528950A>C | CA354496325 | RHO | c.217A>C (p.Asn73His) | |
| 3 | g.129528950A>G | CA354496328 | RHO | c.217A>G (p.Asn73Asp) | |
| 3 | g.129528950A>T | CA354496329 | RHO | c.217A>T (p.Asn73Tyr) | |
| 3 | g.129528951A= | CA1401205668 | RHO | c.218A= (p.Asn73=) | |
| 3 | g.129528951A>C | CA354496337 | RHO | c.218A>C (p.Asn73Thr) | |
| 3 | g.129528951A>G | CA2607089 | RHO | c.218A>G (p.Asn73Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.129528951A>T | CA354496335 | RHO | c.218A>T (p.Asn73Ile) | |
| 3 | g.129528952C>A | CA2607090 | RHO | c.219C>A (p.Asn73Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528952C= | CA1401205679 | RHO | c.219C= (p.Asn73=) | |
| 3 | g.129528952C>G | CA354496344 | RHO | c.219C>G (p.Asn73Lys) | |
| 3 | g.129528952C>T | CA435768995 | RHO | c.219C>T (p.Asn73=) | |
| 3 | g.129528953T>A | CA354496356 | RHO | c.220T>A (p.Tyr74Asn) | |
| 3 | g.129528953T>C | CA2607091 | RHO | c.220T>C (p.Tyr74His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528953T>G | CA354496359 | RHO | c.220T>G (p.Tyr74Asp) | |
| 3 | g.129528953T= | CA1401205688 | RHO | c.220T= (p.Tyr74=) | |
| 3 | g.129528954A>C | CA354496364 | RHO | c.221A>C (p.Tyr74Ser) | |
| 3 | g.129528954A>G | CA354496370 | RHO | c.221A>G (p.Tyr74Cys) | gnomAD v4 |
| 3 | g.129528954A>T | CA354496368 | RHO | c.221A>T (p.Tyr74Phe) | |
| 3 | g.129528955C>A | CA354496376 | RHO | c.222C>A (p.Tyr74Ter) | |
| 3 | g.129528955C= | CA1401205696 | RHO | c.222C= (p.Tyr74=) | |
| 3 | g.129528955C>G | CA354496379 | RHO | c.222C>G (p.Tyr74Ter) | |
| 3 | g.129528955C>T | CA2607092 | RHO | c.222C>T (p.Tyr74=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129528956A= | CA1401205699 | RHO | c.223A= (p.Ile75=) | |
| 3 | g.129528956A>C | CA354496382 | RHO | c.223A>C (p.Ile75Leu) | |
| 3 | g.129528956A>G | CA2607093 | RHO | c.223A>G (p.Ile75Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129528956A>T | CA354496385 | RHO | c.223A>T (p.Ile75Phe) | |
| 3 | g.129528957T>A | CA354496387 | RHO | c.224T>A (p.Ile75Asn) | |
| 3 | g.129528957T>C | CA354496389 | RHO | c.224T>C (p.Ile75Thr) | |
| 3 | g.129528957T>G | CA354496390 | RHO | c.224T>G (p.Ile75Ser) | |
| 3 | g.129528958C>A | CA435768996 | RHO | c.225C>A (p.Ile75=) | |
| 3 | g.129528958C>G | CA354496392 | RHO | c.225C>G (p.Ile75Met) | COSMIC |
| 3 | g.129528958C>T | CA435768997 | RHO | c.225C>T (p.Ile75=) | |
| 3 | g.129528959C>A | CA354496395 | RHO | c.226C>A (p.Leu76Met) | |
| 3 | g.129528959C>G | CA354496396 | RHO | c.226C>G (p.Leu76Val) | |
| 3 | g.129528959C>T | CA435768999 | RHO | c.226C>T (p.Leu76=) | ClinVar |
| 3 | g.129528960T>A | CA354496404 | RHO | c.227T>A (p.Leu76Gln) | |
| 3 | g.129528960T>C | CA354496400 | RHO | c.227T>C (p.Leu76Pro) | |
| 3 | g.129528960T>G | CA354496401 | RHO | c.227T>G (p.Leu76Arg) | |
| 3 | g.129528961G>A | CA435769000 | RHO | c.228G>A (p.Leu76=) | dbSNP gnomAD v4 |
| 3 | g.129528961G>C | CA435769001 | RHO | c.228G>C (p.Leu76=) | |
| 3 | g.129528961G= | CA1401205706 | RHO | c.228G= (p.Leu76=) | |
| 3 | g.129528961G>T | CA435769002 | RHO | c.228G>T (p.Leu76=) | |
| 3 | g.129528962C>A | CA354496406 | RHO | c.229C>A (p.Leu77Ile) | |
| 3 | g.129528962C= | CA1401205713 | RHO | c.229C= (p.Leu77=) | |
| 3 | g.129528962C>G | CA354496410 | RHO | c.229C>G (p.Leu77Val) |