Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154863064G>T | CA2695167949 | F8 | c.6574+19C>A (n.6574+19C>A) c.307+19C>A (n.307+19C>A) c.169+19C>A (n.169+19C>A) c.6469+19C>A (n.6469+19C>A) | gnomAD v4 |
X | g.154863065G>A | CA2695167950 | F8 | c.6574+18C>T (n.6574+18C>T) c.307+18C>T (n.307+18C>T) c.169+18C>T (n.169+18C>T) c.6469+18C>T (n.6469+18C>T) | gnomAD v4 |
X | g.154863066G>A | CA645238716 | F8 | c.6574+17C>T (n.6574+17C>T) c.307+17C>T (n.307+17C>T) c.169+17C>T (n.169+17C>T) c.6469+17C>T (n.6469+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154863066G= | CA2466815559 | F8 | c.6574+17C= (n.6574+17C=) c.307+17C= (n.307+17C=) c.169+17C= (n.169+17C=) c.6469+17C= (n.6469+17C=) | |
X | g.154863069G>A | CA658560531 | F8 | c.6574+14C>T (n.6574+14C>T) c.307+14C>T (n.307+14C>T) c.169+14C>T (n.169+14C>T) c.6469+14C>T (n.6469+14C>T) | COSMIC |
X | g.154863069G= | CA2466815561 | F8 | c.6574+14C= (n.6574+14C=) c.307+14C= (n.307+14C=) c.169+14C= (n.169+14C=) c.6469+14C= (n.6469+14C=) | |
X | g.154863069G>T | CA10567796 | F8 | c.6574+14C>A (n.6574+14C>A) c.307+14C>A (n.307+14C>A) c.169+14C>A (n.169+14C>A) c.6469+14C>A (n.6469+14C>A) | dbSNP ExAC gnomAD v4 |
X | g.154863074G>A | CA645238717 | F8 | c.6574+9C>T (n.6574+9C>T) c.307+9C>T (n.307+9C>T) c.169+9C>T (n.169+9C>T) c.6469+9C>T (n.6469+9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154863074G= | CA2466815562 | F8 | c.6574+9C= (n.6574+9C=) c.307+9C= (n.307+9C=) c.169+9C= (n.169+9C=) c.6469+9C= (n.6469+9C=) | |
X | g.154863074G>T | CA2739117159 | F8 | c.6574+9C>A (n.6574+9C>A) c.307+9C>A (n.307+9C>A) c.169+9C>A (n.169+9C>A) c.6469+9C>A (n.6469+9C>A) | dbSNP |
X | g.154863077A= | CA2466815564 | F8 | c.6574+6T= (n.6574+6T=) c.307+6T= (n.307+6T=) c.169+6T= (n.169+6T=) c.6469+6T= (n.6469+6T=) | |
X | g.154863077A>T | CA10567797 | F8 | c.6574+6T>A (n.6574+6T>A) c.307+6T>A (n.307+6T>A) c.169+6T>A (n.169+6T>A) c.6469+6T>A (n.6469+6T>A) | dbSNP ExAC |
X | g.154863080_154863083del | CA2695237160 | F8 | c.6574+3_6574+6del c.307+3_307+6del c.169+3_169+6del c.6469+3_6469+6del | |
X | g.154863078C>G | CA2695237162 | F8 | c.6574+5G>C (n.6574+5G>C) c.307+5G>C (n.307+5G>C) c.169+5G>C (n.169+5G>C) c.6469+5G>C (n.6469+5G>C) | |
X | g.154863078C>T | CA2695237161 | F8 | c.6574+5G>A (n.6574+5G>A) c.307+5G>A (n.307+5G>A) c.169+5G>A (n.169+5G>A) c.6469+5G>A (n.6469+5G>A) | |
X | g.154863080T>G | CA2695237163 | F8 | c.6574+3A>C (n.6574+3A>C) c.307+3A>C (n.307+3A>C) c.169+3A>C (n.169+3A>C) c.6469+3A>C (n.6469+3A>C) | |
X | g.154863081A>C | CA414906761 | F8 | c.6574+2T>G (n.6574+2T>G) c.307+2T>G (n.307+2T>G) c.169+2T>G (n.169+2T>G) c.6469+2T>G (n.6469+2T>G) | |
X | g.154863081A>G | CA414906763 | F8 | c.6574+2T>C (n.6574+2T>C) c.307+2T>C (n.307+2T>C) c.169+2T>C (n.169+2T>C) c.6469+2T>C (n.6469+2T>C) | |
X | g.154863081A>T | CA414906766 | F8 | c.6574+2T>A (n.6574+2T>A) c.307+2T>A (n.307+2T>A) c.169+2T>A (n.169+2T>A) c.6469+2T>A (n.6469+2T>A) | |
X | g.154863082C>A | CA414906769 | F8 | c.6574+1G>T (n.6574+1G>T) c.307+1G>T (n.307+1G>T) c.169+1G>T (n.169+1G>T) c.6469+1G>T (n.6469+1G>T) | |
X | g.154863082C= | CA2466815566 | F8 | c.6574+1G= (n.6574+1G=) c.307+1G= (n.307+1G=) c.169+1G= (n.169+1G=) c.6469+1G= (n.6469+1G=) | |
X | g.154863082C>G | CA414906774 | F8 | c.6574+1G>C (n.6574+1G>C) c.307+1G>C (n.307+1G>C) c.169+1G>C (n.169+1G>C) c.6469+1G>C (n.6469+1G>C) | |
X | g.154863082C>T | CA414906777 | F8 | c.6574+1G>A (n.6574+1G>A) c.307+1G>A (n.307+1G>A) c.169+1G>A (n.169+1G>A) c.6469+1G>A (n.6469+1G>A) | dbSNP |
X | g.154863083T>A | CA414906782 | F8 | c.6574A>T (p.Ser2192Cys) c.307A>T (p.Ser103Cys) c.169A>T (p.Ser57Cys) c.6469A>T (p.Ser2157Cys) | |
X | g.154863083T>C | CA414906789 | F8 | c.6574A>G (p.Ser2192Gly) c.307A>G (p.Ser103Gly) c.169A>G (p.Ser57Gly) c.6469A>G (p.Ser2157Gly) | |
X | g.154863083T>G | CA414906786 | F8 | c.6574A>C (p.Ser2192Arg) c.307A>C (p.Ser103Arg) c.169A>C (p.Ser57Arg) c.6469A>C (p.Ser2157Arg) | dbSNP |
X | g.154863083T= | CA2466815568 | F8 | c.6574A= (p.Ser2192=) c.307A= (p.Ser103=) c.169A= (p.Ser57=) c.6469A= (p.Ser2157=) | |
X | g.154863084A>C | CA414906792 | F8 | c.6573T>G (p.Asn2191Lys) c.306T>G (p.Asn102Lys) c.168T>G (p.Asn56Lys) c.6468T>G (p.Asn2156Lys) | |
X | g.154863084A>G | CA519357777 | F8 | c.6573T>C (p.Asn2191=) c.306T>C (p.Asn102=) c.168T>C (p.Asn56=) c.6468T>C (p.Asn2156=) | |
X | g.154863084A>T | CA414906795 | F8 | c.6573T>A (p.Asn2191Lys) c.306T>A (p.Asn102Lys) c.168T>A (p.Asn56Lys) c.6468T>A (p.Asn2156Lys) | |
X | g.154863085T>A | CA414906796 | F8 | c.6572A>T (p.Asn2191Ile) c.305A>T (p.Asn102Ile) c.167A>T (p.Asn56Ile) c.6467A>T (p.Asn2156Ile) | |
X | g.154863085T>C | CA414906797 | F8 | c.6572A>G (p.Asn2191Ser) c.305A>G (p.Asn102Ser) c.167A>G (p.Asn56Ser) c.6467A>G (p.Asn2156Ser) | |
X | g.154863085T>G | CA414906800 | F8 | c.6572A>C (p.Asn2191Thr) c.305A>C (p.Asn102Thr) c.167A>C (p.Asn56Thr) c.6467A>C (p.Asn2156Thr) | |
X | g.154863086T>A | CA414906803 | F8 | c.6571A>T (p.Asn2191Tyr) c.304A>T (p.Asn102Tyr) c.166A>T (p.Asn56Tyr) c.6466A>T (p.Asn2156Tyr) | |
X | g.154863086T>C | CA414906804 | F8 | c.6571A>G (p.Asn2191Asp) c.304A>G (p.Asn102Asp) c.166A>G (p.Asn56Asp) c.6466A>G (p.Asn2156Asp) | |
X | g.154863086T>G | CA414906805 | F8 | c.6571A>C (p.Asn2191His) c.304A>C (p.Asn102His) c.166A>C (p.Asn56His) c.6466A>C (p.Asn2156His) | |
X | g.154863087T>A | CA414906807 | F8 | c.6570A>T (p.Leu2190Phe) c.303A>T (p.Leu101Phe) c.165A>T (p.Leu55Phe) c.6465A>T (p.Leu2155Phe) | |
X | g.154863087T>C | CA519357782 | F8 | c.6570A>G (p.Leu2190=) c.303A>G (p.Leu101=) c.165A>G (p.Leu55=) c.6465A>G (p.Leu2155=) | |
X | g.154863087T>G | CA414906809 | F8 | c.6570A>C (p.Leu2190Phe) c.303A>C (p.Leu101Phe) c.165A>C (p.Leu55Phe) c.6465A>C (p.Leu2155Phe) | |
X | g.154863088A>C | CA414906817 | F8 | c.6569T>G (p.Leu2190Ter) c.302T>G (p.Leu101Ter) c.164T>G (p.Leu55Ter) c.6464T>G (p.Leu2155Ter) | |
X | g.154863088A>G | CA414906828 | F8 | c.6569T>C (p.Leu2190Ser) c.302T>C (p.Leu101Ser) c.164T>C (p.Leu55Ser) c.6464T>C (p.Leu2155Ser) | |
X | g.154863088A>T | CA414906823 | F8 | c.6569T>A (p.Leu2190Ter) c.302T>A (p.Leu101Ter) c.164T>A (p.Leu55Ter) c.6464T>A (p.Leu2155Ter) | |
X | g.154863089A>C | CA414906833 | F8 | c.6568T>G (p.Leu2190Val) c.301T>G (p.Leu101Val) c.163T>G (p.Leu55Val) c.6463T>G (p.Leu2155Val) | |
X | g.154863089A>G | CA519357784 | F8 | c.6568T>C (p.Leu2190=) c.301T>C (p.Leu101=) c.163T>C (p.Leu55=) c.6463T>C (p.Leu2155=) | |
X | g.154863089A>T | CA414906837 | F8 | c.6568T>A (p.Leu2190Ile) c.301T>A (p.Leu101Ile) c.163T>A (p.Leu55Ile) c.6463T>A (p.Leu2155Ile) | |
X | g.154863090A= | CA2466815570 | F8 | c.6567T= (p.Asp2189=) c.300T= (p.Asp100=) c.162T= (p.Asp54=) c.6462T= (p.Asp2154=) | |
X | g.154863090A>C | CA414906855 | F8 | c.6567T>G (p.Asp2189Glu) c.300T>G (p.Asp100Glu) c.162T>G (p.Asp54Glu) c.6462T>G (p.Asp2154Glu) | |
X | g.154863090A>G | CA519357790 | F8 | c.6567T>C (p.Asp2189=) c.300T>C (p.Asp100=) c.162T>C (p.Asp54=) c.6462T>C (p.Asp2154=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154863090A>T | CA414906857 | F8 | c.6567T>A (p.Asp2189Glu) c.300T>A (p.Asp100Glu) c.162T>A (p.Asp54Glu) c.6462T>A (p.Asp2154Glu) | |
X | g.154863091T>A | CA414906863 | F8 | c.6566A>T (p.Asp2189Val) c.299A>T (p.Asp100Val) c.161A>T (p.Asp54Val) c.6461A>T (p.Asp2154Val) |