Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.71813466_71813483delinsTCCTCTGCTGGCACCGCC | CA2186514593 | NR2E3 | c.825_842delinsTCCTCTGCTGGCACCGCC (p.Cys275=) c.561_578delinsTCCTCTGCTGGCACCGCC (p.Cys187=) | |
15 | g.71813468_71813484del | CA715430921 | NR2E3 | c.827_843del (p.Pro276ArgfsTer?) c.563_579del (p.Pro188ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.71813473C>A | CA393036696 | NR2E3 | c.832C>A (p.Leu278Met) c.568C>A (p.Leu190Met) | dbSNP gnomAD v2 |
15 | g.71813473C= | CA2186514596 | NR2E3 | c.832C= (p.Leu278=) c.568C= (p.Leu190=) | |
15 | g.71813473C>G | CA393036697 | NR2E3 | c.832C>G (p.Leu278Val) c.568C>G (p.Leu190Val) | |
15 | g.71813473C>T | CA491104705 | NR2E3 | c.832C>T (p.Leu278=) c.568C>T (p.Leu190=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.71813474T>A | CA393036703 | NR2E3 | c.833T>A (p.Leu278Gln) c.569T>A (p.Leu190Gln) | |
15 | g.71813474T>C | CA393036706 | NR2E3 | c.833T>C (p.Leu278Pro) c.569T>C (p.Leu190Pro) | ClinVar gnomAD v4 |
15 | g.71813474T>G | CA393036700 | NR2E3 | c.833T>G (p.Leu278Arg) c.569T>G (p.Leu190Arg) | |
15 | g.71813475G>A | CA491104707 | NR2E3 | c.834G>A (p.Leu278=) c.570G>A (p.Leu190=) | dbSNP gnomAD v2 |
15 | g.71813475G>C | CA491104710 | NR2E3 | c.834G>C (p.Leu278=) c.570G>C (p.Leu190=) | |
15 | g.71813475G= | CA2186514597 | NR2E3 | c.834G= (p.Leu278=) c.570G= (p.Leu190=) | |
15 | g.71813475G>T | CA491104708 | NR2E3 | c.834G>T (p.Leu278=) c.570G>T (p.Leu190=) | |
15 | g.71813476G>A | CA393036716 | NR2E3 | c.835G>A (p.Ala279Thr) c.571G>A (p.Ala191Thr) | gnomAD v4 |
15 | g.71813476G>C | CA393036712 | NR2E3 | c.835G>C (p.Ala279Pro) c.571G>C (p.Ala191Pro) | |
15 | g.71813476G>T | CA393036719 | NR2E3 | c.835G>T (p.Ala279Ser) c.571G>T (p.Ala191Ser) | |
15 | g.71813477C>A | CA393036725 | NR2E3 | c.836C>A (p.Ala279Glu) c.572C>A (p.Ala191Glu) | |
15 | g.71813477C= | CA2186514598 | NR2E3 | c.836C= (p.Ala279=) c.572C= (p.Ala191=) | |
15 | g.71813477C>G | CA393036728 | NR2E3 | c.836C>G (p.Ala279Gly) c.572C>G (p.Ala191Gly) | |
15 | g.71813477C>T | CA393036732 | NR2E3 | c.836C>T (p.Ala279Val) c.572C>T (p.Ala191Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.71813478A= | CA2186514599 | NR2E3 | c.837A= (p.Ala279=) c.573A= (p.Ala191=) | |
15 | g.71813478A>C | CA491104717 | NR2E3 | c.837A>C (p.Ala279=) c.573A>C (p.Ala191=) | dbSNP |
15 | g.71813478A>G | CA491104720 | NR2E3 | c.837A>G (p.Ala279=) c.573A>G (p.Ala191=) | |
15 | g.71813478A>T | CA491104721 | NR2E3 | c.837A>T (p.Ala279=) c.573A>T (p.Ala191=) | |
15 | g.71813479C>A | CA7640407 | NR2E3 | c.838C>A (p.Pro280Thr) c.574C>A (p.Pro192Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.71813479C= | CA2186514600 | NR2E3 | c.838C= (p.Pro280=) c.574C= (p.Pro192=) | |
15 | g.71813479C>G | CA10636493 | NR2E3 | c.838C>G (p.Pro280Ala) c.574C>G (p.Pro192Ala) | ClinVar dbSNP |
15 | g.71813479C>T | CA393036736 | NR2E3 | c.838C>T (p.Pro280Ser) c.574C>T (p.Pro192Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.71813480del | CA2580089938 | NR2E3 | c.839del (p.Pro280ArgfsTer?) c.575del (p.Pro192ArgfsTer?) | ClinVar |
15 | g.71813480C>A | CA393036739 | NR2E3 | c.839C>A (p.Pro280Gln) c.575C>A (p.Pro192Gln) | |
15 | g.71813480C= | CA2186514601 | NR2E3 | c.839C= (p.Pro280=) c.575C= (p.Pro192=) | |
15 | g.71813480C>G | CA393036743 | NR2E3 | c.839C>G (p.Pro280Arg) c.575C>G (p.Pro192Arg) | gnomAD v4 |
15 | g.71813480C>T | CA7640408 | NR2E3 | c.839C>T (p.Pro280Leu) c.575C>T (p.Pro192Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.71813481G>A | CA491104727 | NR2E3 | c.840G>A (p.Pro280=) c.576G>A (p.Pro192=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.71813481G>C | CA491104728 | NR2E3 | c.840G>C (p.Pro280=) c.576G>C (p.Pro192=) | |
15 | g.71813481G= | CA2186514602 | NR2E3 | c.840G= (p.Pro280=) c.576G= (p.Pro192=) | |
15 | g.71813481G>T | CA491104729 | NR2E3 | c.840G>T (p.Pro280=) c.576G>T (p.Pro192=) | ClinVar dbSNP gnomAD v4 |
15 | g.71813482C>A | CA393036750 | NR2E3 | c.841C>A (p.Pro281Thr) c.577C>A (p.Pro193Thr) | |
15 | g.71813482C>G | CA393036754 | NR2E3 | c.841C>G (p.Pro281Ala) c.577C>G (p.Pro193Ala) | |
15 | g.71813482C>T | CA393036768 | NR2E3 | c.841C>T (p.Pro281Ser) c.577C>T (p.Pro193Ser) | gnomAD v4 |
15 | g.71813483C>A | CA393036771 | NR2E3 | c.842C>A (p.Pro281His) c.578C>A (p.Pro193His) | |
15 | g.71813483C>G | CA393036780 | NR2E3 | c.842C>G (p.Pro281Arg) c.578C>G (p.Pro193Arg) | |
15 | g.71813483C>T | CA393036775 | NR2E3 | c.842C>T (p.Pro281Leu) c.578C>T (p.Pro193Leu) | gnomAD v4 |
15 | g.71813484C>A | CA491104739 | NR2E3 | c.843C>A (p.Pro281=) c.579C>A (p.Pro193=) | gnomAD v4 |
15 | g.71813484C= | CA2186514603 | NR2E3 | c.843C= (p.Pro281=) c.579C= (p.Pro193=) | |
15 | g.71813484C>G | CA491104743 | NR2E3 | c.843C>G (p.Pro281=) c.579C>G (p.Pro193=) | ClinVar dbSNP gnomAD v4 |
15 | g.71813484C>T | CA7640409 | NR2E3 | c.843C>T (p.Pro281=) c.579C>T (p.Pro193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.71813485G>A | CA7640410 | NR2E3 | c.844G>A (p.Glu282Lys) c.580G>A (p.Glu194Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.71813485G>C | CA393036786 | NR2E3 | c.844G>C (p.Glu282Gln) c.580G>C (p.Glu194Gln) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.71813485G= | CA2186514604 | NR2E3 | c.844G= (p.Glu282=) c.580G= (p.Glu194=) |