Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.36574727G>A | CA380152486 | RAG1 | c.1423G>A (p.Val475Ile) | gnomAD v4 |
11 | g.36574727G>C | CA380152487 | RAG1 | c.1423G>C (p.Val475Leu) | |
11 | g.36574727G>T | CA380152488 | RAG1 | c.1423G>T (p.Val475Phe) | |
11 | g.36574728del | CA2695213731 | RAG1 | c.1424del (p.Val475AlafsTer17) | |
11 | g.36574728T>A | CA380152489 | RAG1 | c.1424T>A (p.Val475Asp) | |
11 | g.36574728T>C | CA380152490 | RAG1 | c.1424T>C (p.Val475Ala) | |
11 | g.36574728T>G | CA380152491 | RAG1 | c.1424T>G (p.Val475Gly) | |
11 | g.36574729C>A | CA474031749 | RAG1 | c.1425C>A (p.Val475=) | |
11 | g.36574729C= | CA1964212929 | RAG1 | c.1425C= (p.Val475=) | |
11 | g.36574729C>G | CA474031751 | RAG1 | c.1425C>G (p.Val475=) | |
11 | g.36574729C>T | CA474031750 | RAG1 | c.1425C>T (p.Val475=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.36574730A>C | CA380152492 | RAG1 | c.1426A>C (p.Asn476His) | |
11 | g.36574730A>G | CA380152493 | RAG1 | c.1426A>G (p.Asn476Asp) | |
11 | g.36574730A>T | CA380152494 | RAG1 | c.1426A>T (p.Asn476Tyr) | |
11 | g.36574731A>C | CA380152496 | RAG1 | c.1427A>C (p.Asn476Thr) | |
11 | g.36574731A>G | CA380152497 | RAG1 | c.1427A>G (p.Asn476Ser) | gnomAD v4 |
11 | g.36574731A>T | CA380152495 | RAG1 | c.1427A>T (p.Asn476Ile) | |
11 | g.36574732C>A | CA380152498 | RAG1 | c.1428C>A (p.Asn476Lys) | gnomAD v4 |
11 | g.36574732C= | CA1964212930 | RAG1 | c.1428C= (p.Asn476=) | |
11 | g.36574732C>G | CA380152499 | RAG1 | c.1428C>G (p.Asn476Lys) | |
11 | g.36574732C>T | CA220600973 | RAG1 | c.1428C>T (p.Asn476=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.36574733A>C | CA380152500 | RAG1 | c.1429A>C (p.Thr477Pro) | |
11 | g.36574733A>G | CA380152501 | RAG1 | c.1429A>G (p.Thr477Ala) | |
11 | g.36574733A>T | CA380152502 | RAG1 | c.1429A>T (p.Thr477Ser) | |
11 | g.36574734C>A | CA380152505 | RAG1 | c.1430C>A (p.Thr477Asn) | |
11 | g.36574734C>G | CA380152503 | RAG1 | c.1430C>G (p.Thr477Ser) | |
11 | g.36574734C>T | CA380152504 | RAG1 | c.1430C>T (p.Thr477Ile) | gnomAD v4 |
11 | g.36574735del | CA2695213732 | RAG1 | c.1431del (p.Phe478SerfsTer14) | |
11 | g.36574735C>A | CA474031756 | RAG1 | c.1431C>A (p.Thr477=) | |
11 | g.36574735C>G | CA474031758 | RAG1 | c.1431C>G (p.Thr477=) | |
11 | g.36574735C>T | CA474031757 | RAG1 | c.1431C>T (p.Thr477=) | |
11 | g.36574736T>A | CA380152506 | RAG1 | c.1432T>A (p.Phe478Ile) | |
11 | g.36574736T>C | CA380152507 | RAG1 | c.1432T>C (p.Phe478Leu) | dbSNP gnomAD v4 |
11 | g.36574736T>G | CA380152508 | RAG1 | c.1432T>G (p.Phe478Val) | gnomAD v4 |
11 | g.36574736T= | CA1964212931 | RAG1 | c.1432T= (p.Phe478=) | |
11 | g.36574737T>A | CA380152509 | RAG1 | c.1433T>A (p.Phe478Tyr) | dbSNP |
11 | g.36574737T>C | CA380152510 | RAG1 | c.1433T>C (p.Phe478Ser) | |
11 | g.36574737T>G | CA380152511 | RAG1 | c.1433T>G (p.Phe478Cys) | |
11 | g.36574737T= | CA1964212932 | RAG1 | c.1433T= (p.Phe478=) | |
11 | g.36574738C>A | CA5950137 | RAG1 | c.1434C>A (p.Phe478Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.36574738C= | CA1964212933 | RAG1 | c.1434C= (p.Phe478=) | |
11 | g.36574738C>G | CA380152512 | RAG1 | c.1434C>G (p.Phe478Leu) | |
11 | g.36574738C>T | CA5950136 | RAG1 | c.1434C>T (p.Phe478=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.36574739C>A | CA380152515 | RAG1 | c.1435C>A (p.Leu479Ile) | |
11 | g.36574739C>G | CA380152513 | RAG1 | c.1435C>G (p.Leu479Val) | |
11 | g.36574739C>T | CA380152514 | RAG1 | c.1435C>T (p.Leu479Phe) | |
11 | g.36574740T>A | CA380152516 | RAG1 | c.1436T>A (p.Leu479His) | |
11 | g.36574740T>C | CA380152517 | RAG1 | c.1436T>C (p.Leu479Pro) | |
11 | g.36574740T>G | CA380152518 | RAG1 | c.1436T>G (p.Leu479Arg) | |
11 | g.36574741C>A | CA474031761 | RAG1 | c.1437C>A (p.Leu479=) |