Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.129533683_129533729del | CA2580068752 | RHO | c.1012_*11del (n.[c.1012_*11del;Ser338AspfsTer30]) | ClinVar |
3 | g.129533691_129533732del | CA2586965923 | RHO | c.1020_*14del (n.[c.1020_*14del;Glu341LeufsTer?]) | |
3 | g.129533711dup | CA1401213443 | RHO | c.1040dup (p.Ala348GlyfsTer6) | dbSNP |
3 | g.129533711del | CA1139655840 | RHO | c.1040del (p.Pro347ArgfsTer13) | ClinVar dbSNP gnomAD v4 |
3 | g.129533710_129533712delinsTGC | CA2579758051 | RHO | c.1039_1041delinsTGC (p.Pro347Cys) | |
3 | g.129533711C>A | CA256694 | RHO | c.1040C>A (p.Pro347Gln) | ClinVar dbSNP |
3 | g.129533711C= | CA1401213465 | RHO | c.1040C= (p.Pro347=) | |
3 | g.129533711C>G | CA256678 | RHO | c.1040C>G (p.Pro347Arg) | ClinVar dbSNP |
3 | g.129533711C>T | CA256662 | RHO | c.1040C>T (p.Pro347Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533712G>A | CA2607369 | RHO | c.1041G>A (p.Pro347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533712G>C | CA435623858 | RHO | c.1041G>C (p.Pro347=) | |
3 | g.129533712G= | CA1401213480 | RHO | c.1041G= (p.Pro347=) | |
3 | g.129533712G>T | CA435623859 | RHO | c.1041G>T (p.Pro347=) | gnomAD v4 |
3 | g.129533713G>A | CA354471280 | RHO | c.1042G>A (p.Ala348Thr) | gnomAD v4 COSMIC |
3 | g.129533713G>C | CA354471282 | RHO | c.1042G>C (p.Ala348Pro) | |
3 | g.129533713G>T | CA354471281 | RHO | c.1042G>T (p.Ala348Ser) | |
3 | g.129533714C>A | CA354471283 | RHO | c.1043C>A (p.Ala348Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.129533714C= | CA1401213483 | RHO | c.1043C= (p.Ala348=) | |
3 | g.129533714C>G | CA354471284 | RHO | c.1043C>G (p.Ala348Gly) | |
3 | g.129533714C>T | CA354471285 | RHO | c.1043C>T (p.Ala348Val) | ClinVar dbSNP gnomAD v4 |
3 | g.129533715C>A | CA435623860 | RHO | c.1044C>A (p.Ala348=) | |
3 | g.129533715C>G | CA435623861 | RHO | c.1044C>G (p.Ala348=) | |
3 | g.129533715C>T | CA435623862 | RHO | c.1044C>T (p.Ala348=) | gnomAD v4 |
3 | g.129533716T>A | CA354471286 | RHO | c.1045T>A (p.Ter349Lys) | |
3 | g.129533716T>C | CA354471287 | RHO | c.1045T>C (p.Ter349Gln) | ClinVar dbSNP |
3 | g.129533716T>G | CA354471288 | RHO | c.1045T>G (p.Ter349Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.129533716T= | CA1401213488 | RHO | c.1045T= (p.Ter349=) | |
3 | g.129533717A= | CA1401213492 | RHO | c.1046A= (p.Ter349=) | |
3 | g.129533717A>C | CA354471289 | RHO | c.1046A>C (p.Ter349Ser) | |
3 | g.129533717A>G | CA435623863 | RHO | c.1046A>G (p.Ter349=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533717A>T | CA354471290 | RHO | c.1046A>T (p.Ter349Leu) | |
3 | g.129533718A>C | CA354471291 | RHO | c.1047A>C (p.Ter349Tyr) | |
3 | g.129533718A>G | CA435623864 | RHO | c.1047A>G (p.Ter349=) | |
3 | g.129533718A>T | CA354471292 | RHO | c.1047A>T (p.Ter349Tyr) | |
3 | g.129533719G>A | CA2667618899 | RHO | c.*1G>A (n.*1G>A) | gnomAD v4 |
3 | g.129533719G= | CA1401213495 | RHO | c.*1G= (n.*1G=) | |
3 | g.129533719G>T | CA1053436944 | RHO | c.*1G>T (n.*1G>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533720A>G | CA2667618902 | RHO | c.*2A>G (n.*2A>G) | gnomAD v4 |
3 | g.129533721C>A | CA1053436948 | RHO | c.*3C>A (n.*3C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533721C= | CA1401213499 | RHO | c.*3C= (n.*3C=) | |
3 | g.129533722C= | CA1401213501 | RHO | c.*4C= (n.*4C=) | |
3 | g.129533722C>G | CA82621393 | RHO | c.*4C>G (n.*4C>G) | dbSNP gnomAD v4 |
3 | g.129533722C>T | CA898754710 | RHO | c.*4C>T (n.*4C>T) | dbSNP |
3 | g.129533723T>G | CA2667618909 | RHO | c.*5T>G (n.*5T>G) | gnomAD v4 |
3 | g.129533724G>A | CA2607370 | RHO | c.*6G>A (n.*6G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129533724G= | CA1401213504 | RHO | c.*6G= (n.*6G=) | |
3 | g.129533725C>A | CA2667618915 | RHO | c.*7C>A (n.*7C>A) | gnomAD v4 |
3 | g.129533725C= | CA1401213507 | RHO | c.*7C= (n.*7C=) | |
3 | g.129533725C>T | CA898754711 | RHO | c.*7C>T (n.*7C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.129533726C>A | CA2577895301 | RHO | c.*8C>A (n.*8C>A) | gnomAD v4 |