Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154928568T>C | CA873340051 | F8 | c.5219+3A>G (n.5219+3A>G) c.5114+3A>G (n.5114+3A>G) | dbSNP |
X | g.154928568T>G | CA2695237873 | F8 | c.5219+3A>C (n.5219+3A>C) c.5114+3A>C (n.5114+3A>C) | |
X | g.154928568T= | CA2466835726 | F8 | c.5219+3A= (n.5219+3A=) c.5114+3A= (n.5114+3A=) | |
X | g.154928569A= | CA2466835727 | F8 | c.5219+2T= (n.5219+2T=) c.5114+2T= (n.5114+2T=) | |
X | g.154928569A>C | CA414913412 | F8 | c.5219+2T>G (n.5219+2T>G) c.5114+2T>G (n.5114+2T>G) | |
X | g.154928569A>G | CA414913416 | F8 | c.5219+2T>C (n.5219+2T>C) c.5114+2T>C (n.5114+2T>C) | ClinVar dbSNP |
X | g.154928569A>T | CA414913414 | F8 | c.5219+2T>A (n.5219+2T>A) c.5114+2T>A (n.5114+2T>A) | |
X | g.154928570C>A | CA414913418 | F8 | c.5219+1G>T (n.5219+1G>T) c.5114+1G>T (n.5114+1G>T) | |
X | g.154928570C= | CA2466835728 | F8 | c.5219+1G= (n.5219+1G=) c.5114+1G= (n.5114+1G=) | |
X | g.154928570C>G | CA414913422 | F8 | c.5219+1G>C (n.5219+1G>C) c.5114+1G>C (n.5114+1G>C) | |
X | g.154928570C>T | CA414913420 | F8 | c.5219+1G>A (n.5219+1G>A) c.5114+1G>A (n.5114+1G>A) | ClinVar dbSNP |
X | g.154928571C>A | CA414913424 | F8 | c.5219G>T (p.Arg1740Met) c.5114G>T (p.Arg1705Met) | ClinVar dbSNP |
X | g.154928571C= | CA2466835729 | F8 | c.5219G= (p.Arg1740=) c.5114G= (p.Arg1705=) | |
X | g.154928571C>G | CA414913427 | F8 | c.5219G>C (p.Arg1740Thr) c.5114G>C (p.Arg1705Thr) | |
X | g.154928571C>T | CA414913426 | F8 | c.5219G>A (p.Arg1740Lys) c.5114G>A (p.Arg1705Lys) | |
X | g.154928572T>A | CA414913429 | F8 | c.5218A>T (p.Arg1740Trp) c.5113A>T (p.Arg1705Trp) | |
X | g.154928572T>C | CA414913430 | F8 | c.5218A>G (p.Arg1740Gly) c.5113A>G (p.Arg1705Gly) | |
X | g.154928572T>G | CA519374732 | F8 | c.5218A>C (p.Arg1740=) c.5113A>C (p.Arg1705=) | |
X | g.154928573G>A | CA519374734 | F8 | c.5217C>T (p.Asn1739=) c.5112C>T (p.Asn1704=) | ClinVar dbSNP gnomAD v4 |
X | g.154928573G>C | CA414913431 | F8 | c.5217C>G (p.Asn1739Lys) c.5112C>G (p.Asn1704Lys) | |
X | g.154928573G= | CA2466835730 | F8 | c.5217C= (p.Asn1739=) c.5112C= (p.Asn1704=) | |
X | g.154928573G>T | CA414913433 | F8 | c.5217C>A (p.Asn1739Lys) c.5112C>A (p.Asn1704Lys) | |
X | g.154928574T>A | CA414913435 | F8 | c.5216A>T (p.Asn1739Ile) c.5111A>T (p.Asn1704Ile) | |
X | g.154928574T>C | CA414913436 | F8 | c.5216A>G (p.Asn1739Ser) c.5111A>G (p.Asn1704Ser) | |
X | g.154928574T>G | CA414913438 | F8 | c.5216A>C (p.Asn1739Thr) c.5111A>C (p.Asn1704Thr) | |
X | g.154928576_154928579del | CA2695237880 | F8 | c.5213_5216del (p.Arg1738ThrfsTer?) c.5108_5111del (p.Arg1703ThrfsTer?) | |
X | g.154928575T>A | CA414913440 | F8 | c.5215A>T (p.Asn1739Tyr) c.5110A>T (p.Asn1704Tyr) | |
X | g.154928575T>C | CA414913442 | F8 | c.5215A>G (p.Asn1739Asp) c.5110A>G (p.Asn1704Asp) | |
X | g.154928575T>G | CA414913444 | F8 | c.5215A>C (p.Asn1739His) c.5110A>C (p.Asn1704His) | |
X | g.154928576T>A | CA414913448 | F8 | c.5214A>T (p.Arg1738Ser) c.5109A>T (p.Arg1703Ser) | |
X | g.154928576T>C | CA519374735 | F8 | c.5214A>G (p.Arg1738=) c.5109A>G (p.Arg1703=) | |
X | g.154928576T>G | CA414913447 | F8 | c.5214A>C (p.Arg1738Ser) c.5109A>C (p.Arg1703Ser) | |
X | g.154928577del | CA1139532038 | F8 | c.5213del (p.Arg1738LysfsTer?) c.5108del (p.Arg1703LysfsTer?) | |
X | g.154928577C>A | CA414913450 | F8 | c.5213G>T (p.Arg1738Ile) c.5108G>T (p.Arg1703Ile) | |
X | g.154928577C>G | CA414913452 | F8 | c.5213G>C (p.Arg1738Thr) c.5108G>C (p.Arg1703Thr) | |
X | g.154928577C>T | CA414913454 | F8 | c.5213G>A (p.Arg1738Lys) c.5108G>A (p.Arg1703Lys) | COSMIC COSMIC |
X | g.154928577_154928578delinsCT | CA2466835731 | F8 | c.5212_5213delinsAG (p.Arg1738=) c.5107_5108delinsAG (p.Arg1703=) | |
X | g.154928578T>A | CA414913456 | F8 | c.5212A>T (p.Arg1738Ter) c.5107A>T (p.Arg1703Ter) | |
X | g.154928578T>C | CA414913458 | F8 | c.5212A>G (p.Arg1738Gly) c.5107A>G (p.Arg1703Gly) | |
X | g.154928578T>G | CA519374736 | F8 | c.5212A>C (p.Arg1738=) c.5107A>C (p.Arg1703=) | |
X | g.154928579del | CA2466835732 | F8 | c.5212del (p.Arg1738GlufsTer?) c.5107del (p.Arg1703GlufsTer?) | dbSNP |
X | g.154928579T>A | CA519374737 | F8 | c.5211A>T (p.Leu1737=) c.5106A>T (p.Leu1702=) | |
X | g.154928579T>C | CA519374738 | F8 | c.5211A>G (p.Leu1737=) c.5106A>G (p.Leu1702=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154928579T>G | CA519374739 | F8 | c.5211A>C (p.Leu1737=) c.5106A>C (p.Leu1702=) | |
X | g.154928579T= | CA2466835733 | F8 | c.5211A= (p.Leu1737=) c.5106A= (p.Leu1702=) | |
X | g.154928580A>C | CA414913460 | F8 | c.5210T>G (p.Leu1737Arg) c.5105T>G (p.Leu1702Arg) | |
X | g.154928580A>G | CA414913462 | F8 | c.5210T>C (p.Leu1737Pro) c.5105T>C (p.Leu1702Pro) | |
X | g.154928580A>T | CA414913464 | F8 | c.5210T>A (p.Leu1737Gln) c.5105T>A (p.Leu1702Gln) | |
X | g.154928581G>A | CA519374740 | F8 | c.5209C>T (p.Leu1737=) c.5104C>T (p.Leu1702=) | COSMIC COSMIC |
X | g.154928581G>C | CA414913466 | F8 | c.5209C>G (p.Leu1737Val) c.5104C>G (p.Leu1702Val) |