Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.238273178_238273180dup | CA2663887088 | PER2 | c.462_464dup (p.Tyr155_Gln156insTyr) | gnomAD v4 |
2 | g.238273178del | CA2513787648 | PER2 | c.463del (p.Tyr155ThrfsTer4) | |
2 | g.238273178A= | CA1338047153 | PER2 | c.462T= (p.Tyr154=) | |
2 | g.238273178A>C | CA351264488 | PER2 | c.462T>G (p.Tyr154Ter) | |
2 | g.238273178A>G | CA431996354 | PER2 | c.462T>C (p.Tyr154=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.238273178A>T | CA351264490 | PER2 | c.462T>A (p.Tyr154Ter) | |
2 | g.238273179T>A | CA351264493 | PER2 | c.461A>T (p.Tyr154Phe) | |
2 | g.238273179T>C | CA351264495 | PER2 | c.461A>G (p.Tyr154Cys) | |
2 | g.238273179T>G | CA351264494 | PER2 | c.461A>C (p.Tyr154Ser) | |
2 | g.238273180A>C | CA351264498 | PER2 | c.460T>G (p.Tyr154Asp) | |
2 | g.238273180A>G | CA351264501 | PER2 | c.460T>C (p.Tyr154His) | |
2 | g.238273180A>T | CA351264500 | PER2 | c.460T>A (p.Tyr154Asn) | |
2 | g.238273181C>A | CA351264503 | PER2 | c.459G>T (p.Glu153Asp) | |
2 | g.238273181C>G | CA351264505 | PER2 | c.459G>C (p.Glu153Asp) | |
2 | g.238273181C>T | CA431996355 | PER2 | c.459G>A (p.Glu153=) | gnomAD v4 |
2 | g.238273182T>A | CA351264506 | PER2 | c.458A>T (p.Glu153Val) | dbSNP |
2 | g.238273182T>C | CA351264507 | PER2 | c.458A>G (p.Glu153Gly) | gnomAD v4 |
2 | g.238273182T>G | CA351264508 | PER2 | c.458A>C (p.Glu153Ala) | |
2 | g.238273182T= | CA1338047154 | PER2 | c.458A= (p.Glu153=) | |
2 | g.238273183C>A | CA351264511 | PER2 | c.457G>T (p.Glu153Ter) | |
2 | g.238273183C>G | CA351264513 | PER2 | c.457G>C (p.Glu153Gln) | |
2 | g.238273183C>T | CA351264514 | PER2 | c.457G>A (p.Glu153Lys) | |
2 | g.238273184T>A | CA351264515 | PER2 | c.456A>T (p.Glu152Asp) | |
2 | g.238273184T>C | CA2197765 | PER2 | c.456A>G (p.Glu152=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.238273184T>G | CA351264517 | PER2 | c.456A>C (p.Glu152Asp) | |
2 | g.238273184T= | CA1338047155 | PER2 | c.456A= (p.Glu152=) | |
2 | g.238273185T>A | CA351264522 | PER2 | c.455A>T (p.Glu152Val) | |
2 | g.238273185T>C | CA351264520 | PER2 | c.455A>G (p.Glu152Gly) | |
2 | g.238273185T>G | CA351264519 | PER2 | c.455A>C (p.Glu152Ala) | |
2 | g.238273186C>A | CA351264523 | PER2 | c.454G>T (p.Glu152Ter) | |
2 | g.238273186C>G | CA351264525 | PER2 | c.454G>C (p.Glu152Gln) | |
2 | g.238273186C>T | CA351264526 | PER2 | c.454G>A (p.Glu152Lys) | |
2 | g.238273187A>C | CA351264528 | PER2 | c.453T>G (p.Asn151Lys) | |
2 | g.238273187A>G | CA431996356 | PER2 | c.453T>C (p.Asn151=) | |
2 | g.238273187A>T | CA351264530 | PER2 | c.453T>A (p.Asn151Lys) | |
2 | g.238273188T>A | CA351264532 | PER2 | c.452A>T (p.Asn151Ile) | |
2 | g.238273188T>C | CA2197766 | PER2 | c.452A>G (p.Asn151Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.238273188T>G | CA351264534 | PER2 | c.452A>C (p.Asn151Thr) | |
2 | g.238273188T= | CA1338047156 | PER2 | c.452A= (p.Asn151=) | |
2 | g.238273189T>A | CA351264536 | PER2 | c.451A>T (p.Asn151Tyr) | |
2 | g.238273189T>C | CA351264538 | PER2 | c.451A>G (p.Asn151Asp) | |
2 | g.238273189T>G | CA351264539 | PER2 | c.451A>C (p.Asn151His) | |
2 | g.238273190G>A | CA431996357 | PER2 | c.450C>T (p.Ala150=) | dbSNP |
2 | g.238273190G>C | CA431996358 | PER2 | c.450C>G (p.Ala150=) | |
2 | g.238273190G= | CA1338047157 | PER2 | c.450C= (p.Ala150=) | |
2 | g.238273190G>T | CA431996359 | PER2 | c.450C>A (p.Ala150=) | |
2 | g.238273191G>A | CA351264550 | PER2 | c.449C>T (p.Ala150Val) | gnomAD v4 |
2 | g.238273191G>C | CA351264543 | PER2 | c.449C>G (p.Ala150Gly) | |
2 | g.238273191G>T | CA351264542 | PER2 | c.449C>A (p.Ala150Asp) | |
2 | g.238273192C>A | CA351264553 | PER2 | c.449-1G>T (n.449-1G>T) |