| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.155022410_155022723del | CA1139532180 | F8 | c.-170_143+1del c.38+4058_38+4371del (n.38+4058_38+4371del) c.39-226_125+1del | |
| X | g.155022464dup | CA2695238534 | F8 | c.90dup (p.Leu31ThrfsTer9) c.38+4317dup (n.38+4317dup) c.72dup (p.Leu25ThrfsTer9) | |
| X | g.155022464T>A | CA255047 | F8 | c.89A>T (p.Glu30Val) c.38+4316A>T (n.38+4316A>T) c.71A>T (p.Glu24Val) | ClinVar dbSNP |
| X | g.155022464T>C | CA414920550 | F8 | c.89A>G (p.Glu30Gly) c.38+4316A>G (n.38+4316A>G) c.71A>G (p.Glu24Gly) | ClinVar dbSNP |
| X | g.155022464T>G | CA414920551 | F8 | c.89A>C (p.Glu30Ala) c.38+4316A>C (n.38+4316A>C) c.71A>C (p.Glu24Ala) | |
| X | g.155022464T= | CA2466865424 | F8 | c.89A= (p.Glu30=) c.38+4316A= (n.38+4316A=) c.71A= (p.Glu24=) | |
| X | g.155022465C>A | CA414920552 | F8 | c.88G>T (p.Glu30Ter) c.38+4315G>T (n.38+4315G>T) c.70G>T (p.Glu24Ter) | |
| X | g.155022465C= | CA2466865425 | F8 | c.88G= (p.Glu30=) c.38+4315G= (n.38+4315G=) c.70G= (p.Glu24=) | |
| X | g.155022465C>G | CA414920553 | F8 | c.88G>C (p.Glu30Gln) c.38+4315G>C (n.38+4315G>C) c.70G>C (p.Glu24Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.155022465C>T | CA414920554 | F8 | c.88G>A (p.Glu30Lys) c.38+4315G>A (n.38+4315G>A) c.70G>A (p.Glu24Lys) | dbSNP |
| X | g.155022465_155022470delinsCCACTG | CA2466865426 | F8 | c.83_88delinsCAGTGG (p.Ala28=) c.38+4310_38+4315delinsCAGTGG (n.38+4310_38+4315delinsCAGTGG) c.65_70delinsCAGTGG (p.Ala22=) | |
| X | g.155022467_155022474del | CA2695238536 | F8 | c.81_88del (p.Ala28ThrfsTer9) c.38+4308_38+4315del (n.38+4308_38+4315del) c.63_70del (p.Ala22ThrfsTer9) | |
| X | g.155022466C>A | CA519388621 | F8 | c.87G>T (p.Val29=) c.38+4314G>T (n.38+4314G>T) c.69G>T (p.Val23=) | |
| X | g.155022466C>G | CA519388625 | F8 | c.87G>C (p.Val29=) c.38+4314G>C (n.38+4314G>C) c.69G>C (p.Val23=) | |
| X | g.155022466C>T | CA519388629 | F8 | c.87G>A (p.Val29=) c.38+4314G>A (n.38+4314G>A) c.69G>A (p.Val23=) | |
| X | g.155022469_155022473del | CA915952172 | F8 | c.83_87del (p.Ala28GlyfsTer10) c.38+4310_38+4314del (n.38+4310_38+4314del) c.65_69del (p.Ala22GlyfsTer10) | ClinVar dbSNP |
| X | g.155022467A>C | CA414920555 | F8 | c.86T>G (p.Val29Gly) c.38+4313T>G (n.38+4313T>G) c.68T>G (p.Val23Gly) | |
| X | g.155022467A>G | CA414920556 | F8 | c.86T>C (p.Val29Ala) c.38+4313T>C (n.38+4313T>C) c.68T>C (p.Val23Ala) | |
| X | g.155022467A>T | CA414920557 | F8 | c.86T>A (p.Val29Glu) c.38+4313T>A (n.38+4313T>A) c.68T>A (p.Val23Glu) | |
| X | g.155022467_155022481del | CA2695238537 | F8 | c.72_86del (p.Tyr24Ter) c.38+4299_38+4313del (n.38+4299_38+4313del) c.54_68del (p.Tyr18Ter) | |
| X | g.155022468C>A | CA414920558 | F8 | c.85G>T (p.Val29Leu) c.38+4312G>T (n.38+4312G>T) c.67G>T (p.Val23Leu) | |
| X | g.155022468C>G | CA414920559 | F8 | c.85G>C (p.Val29Leu) c.38+4312G>C (n.38+4312G>C) c.67G>C (p.Val23Leu) | |
| X | g.155022468C>T | CA414920560 | F8 | c.85G>A (p.Val29Met) c.38+4312G>A (n.38+4312G>A) c.67G>A (p.Val23Met) | |
| X | g.155022469T>A | CA519388644 | F8 | c.84A>T (p.Ala28=) c.38+4311A>T (n.38+4311A>T) c.66A>T (p.Ala22=) | |
| X | g.155022469T>C | CA519388646 | F8 | c.84A>G (p.Ala28=) c.38+4311A>G (n.38+4311A>G) c.66A>G (p.Ala22=) | dbSNP |
| X | g.155022469T>G | CA519388648 | F8 | c.84A>C (p.Ala28=) c.38+4311A>C (n.38+4311A>C) c.66A>C (p.Ala22=) | |
| X | g.155022469T= | CA2466865427 | F8 | c.84A= (p.Ala28=) c.38+4311A= (n.38+4311A=) c.66A= (p.Ala22=) | |
| X | g.155022470G>A | CA414920562 | F8 | c.83C>T (p.Ala28Val) c.38+4310C>T (n.38+4310C>T) c.65C>T (p.Ala22Val) | |
| X | g.155022470G>C | CA414920563 | F8 | c.83C>G (p.Ala28Gly) c.38+4310C>G (n.38+4310C>G) c.65C>G (p.Ala22Gly) | |
| X | g.155022470G>T | CA414920561 | F8 | c.83C>A (p.Ala28Glu) c.38+4310C>A (n.38+4310C>A) c.65C>A (p.Ala22Glu) | |
| X | g.155022470_155022471delinsTT | CA2695238538 | F8 | c.82_83delinsAA (p.Ala28Lys) c.38+4309_38+4310delinsAA (n.38+4309_38+4310delinsAA) c.64_65delinsAA (p.Ala22Lys) | |
| X | g.155022471C>A | CA414920564 | F8 | c.82G>T (p.Ala28Ser) c.38+4309G>T (n.38+4309G>T) c.64G>T (p.Ala22Ser) | |
| X | g.155022471C= | CA2466865428 | F8 | c.82G= (p.Ala28=) c.38+4309G= (n.38+4309G=) c.64G= (p.Ala22=) | |
| X | g.155022471C>G | CA414920565 | F8 | c.82G>C (p.Ala28Pro) c.38+4309G>C (n.38+4309G>C) c.64G>C (p.Ala22Pro) | |
| X | g.155022471C>T | CA414920566 | F8 | c.82G>A (p.Ala28Thr) c.38+4309G>A (n.38+4309G>A) c.64G>A (p.Ala22Thr) | dbSNP |
| X | g.155022472A= | CA2466865429 | F8 | c.81T= (p.Gly27=) c.38+4308T= (n.38+4308T=) c.63T= (p.Gly21=) | |
| X | g.155022472A>C | CA10568647 | F8 | c.81T>G (p.Gly27=) c.38+4308T>G (n.38+4308T>G) c.63T>G (p.Gly21=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.155022472A>G | CA519388664 | F8 | c.81T>C (p.Gly27=) c.38+4308T>C (n.38+4308T>C) c.63T>C (p.Gly21=) | |
| X | g.155022472A>T | CA519388665 | F8 | c.81T>A (p.Gly27=) c.38+4308T>A (n.38+4308T>A) c.63T>A (p.Gly21=) | |
| X | g.155022473C>A | CA414920567 | F8 | c.80G>T (p.Gly27Val) c.38+4307G>T (n.38+4307G>T) c.62G>T (p.Gly21Val) | |
| X | g.155022473C= | CA2466865430 | F8 | c.80G= (p.Gly27=) c.38+4307G= (n.38+4307G=) c.62G= (p.Gly21=) | |
| X | g.155022473C>G | CA414920568 | F8 | c.80G>C (p.Gly27Ala) c.38+4307G>C (n.38+4307G>C) c.62G>C (p.Gly21Ala) | |
| X | g.155022473C>T | CA414920569 | F8 | c.80G>A (p.Gly27Asp) c.38+4307G>A (n.38+4307G>A) c.62G>A (p.Gly21Asp) | dbSNP |
| X | g.155022474C>A | CA414920570 | F8 | c.79G>T (p.Gly27Cys) c.38+4306G>T (n.38+4306G>T) c.61G>T (p.Gly21Cys) | |
| X | g.155022474C>G | CA414920571 | F8 | c.79G>C (p.Gly27Arg) c.38+4306G>C (n.38+4306G>C) c.61G>C (p.Gly21Arg) | |
| X | g.155022474C>T | CA414920572 | F8 | c.79G>A (p.Gly27Ser) c.38+4306G>A (n.38+4306G>A) c.61G>A (p.Gly21Ser) | |
| X | g.155022475C>A | CA519388676 | F8 | c.78G>T (p.Leu26=) c.38+4305G>T (n.38+4305G>T) c.60G>T (p.Leu20=) | |
| X | g.155022475C>G | CA519388679 | F8 | c.78G>C (p.Leu26=) c.38+4305G>C (n.38+4305G>C) c.60G>C (p.Leu20=) | |
| X | g.155022475C>T | CA519388683 | F8 | c.78G>A (p.Leu26=) c.38+4305G>A (n.38+4305G>A) c.60G>A (p.Leu20=) | |
| X | g.155022476A= | CA2466865431 | F8 | c.77T= (p.Leu26=) c.38+4304T= (n.38+4304T=) c.59T= (p.Leu20=) |