Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.136207694_136207758del | CA2694800422 | FHL1 | c.380-98_380-34del (n.380-98_380-34del) c.332-98_332-34del (n.332-98_332-34del) c.419-98_419-34del (n.419-98_419-34del) n.36-98_36-34del n.382-98_382-34del n.743-98_743-34del | gnomAD v4 |
X | g.136207747dup | CA2832582070 | FHL1 | c.380-45dup (n.380-45dup) c.332-45dup (n.332-45dup) c.419-45dup (n.419-45dup) n.36-45dup n.382-45dup n.743-45dup | |
X | g.136207747del | CA2579710131 | FHL1 | c.380-45del (n.380-45del) c.332-45del (n.332-45del) c.419-45del (n.419-45del) n.36-45del n.382-45del n.743-45del | |
X | g.136207747C>T | CA2838468592 | FHL1 | c.380-45C>T (n.380-45C>T) c.332-45C>T (n.332-45C>T) c.419-45C>T (n.419-45C>T) n.36-45C>T n.382-45C>T n.743-45C>T | |
X | g.136207748dup | CA2694800450 | FHL1 | c.380-44dup (n.380-44dup) c.332-44dup (n.332-44dup) c.419-44dup (n.419-44dup) n.36-44dup n.382-44dup n.743-44dup | gnomAD v4 |
X | g.136207750C>A | CA2694800451 | FHL1 | c.380-42C>A (n.380-42C>A) c.332-42C>A (n.332-42C>A) c.419-42C>A (n.419-42C>A) n.36-42C>A n.382-42C>A n.743-42C>A | gnomAD v4 |
X | g.136207754G>A | CA336094658 | FHL1 | c.380-38G>A (n.380-38G>A) c.332-38G>A (n.332-38G>A) c.419-38G>A (n.419-38G>A) n.36-38G>A n.382-38G>A n.743-38G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.136207754G= | CA2460259415 | FHL1 | c.380-38G= (n.380-38G=) c.332-38G= (n.332-38G=) c.419-38G= (n.419-38G=) n.36-38G= n.382-38G= n.743-38G= | |
X | g.136207755C= | CA2460259416 | FHL1 | c.380-37C= (n.380-37C=) c.332-37C= (n.332-37C=) c.419-37C= (n.419-37C=) n.36-37C= n.382-37C= n.743-37C= | |
X | g.136207755_136207756insA | CA2460259417 | FHL1 | c.380-37_380-36insA (n.380-37_380-36insA) c.332-37_332-36insA (n.332-37_332-36insA) c.419-37_419-36insA (n.419-37_419-36insA) n.36-37_36-36insA n.382-37_382-36insA n.743-37_743-36insA | dbSNP |
X | g.136207758G>A | CA644588917 | FHL1 | c.380-34G>A (n.380-34G>A) c.332-34G>A (n.332-34G>A) c.419-34G>A (n.419-34G>A) n.36-34G>A n.382-34G>A n.743-34G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.136207758G= | CA2460259418 | FHL1 | c.380-34G= (n.380-34G=) c.332-34G= (n.332-34G=) c.419-34G= (n.419-34G=) n.36-34G= n.382-34G= n.743-34G= | |
X | g.136207760C>A | CA2694800452 | FHL1 | c.380-32C>A (n.380-32C>A) c.332-32C>A (n.332-32C>A) c.419-32C>A (n.419-32C>A) n.36-32C>A n.382-32C>A n.743-32C>A | gnomAD v4 |
X | g.136207760C= | CA2460259419 | FHL1 | c.380-32C= (n.380-32C=) c.332-32C= (n.332-32C=) c.419-32C= (n.419-32C=) n.36-32C= n.382-32C= n.743-32C= | |
X | g.136207760C>T | CA644588918 | FHL1 | c.380-32C>T (n.380-32C>T) c.332-32C>T (n.332-32C>T) c.419-32C>T (n.419-32C>T) n.36-32C>T n.382-32C>T n.743-32C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.136207761A>C | CA2694800453 | FHL1 | c.380-31A>C (n.380-31A>C) c.332-31A>C (n.332-31A>C) c.419-31A>C (n.419-31A>C) n.36-31A>C n.382-31A>C n.743-31A>C | gnomAD v4 |
X | g.136207763T>G | CA2579710133 | FHL1 | c.380-29T>G (n.380-29T>G) c.332-29T>G (n.332-29T>G) c.419-29T>G (n.419-29T>G) n.36-29T>G n.382-29T>G n.743-29T>G | |
X | g.136207764G>T | CA2579710135 | FHL1 | c.380-28G>T (n.380-28G>T) c.332-28G>T (n.332-28G>T) c.419-28G>T (n.419-28G>T) n.36-28G>T n.382-28G>T n.743-28G>T | |
X | g.136207767del | CA2579710134 | FHL1 | c.380-25del (n.380-25del) c.332-25del (n.332-25del) c.419-25del (n.419-25del) n.36-25del n.382-25del n.743-25del | |
X | g.136207766G>A | CA2694800454 | FHL1 | c.380-26G>A (n.380-26G>A) c.332-26G>A (n.332-26G>A) c.419-26G>A (n.419-26G>A) n.36-26G>A n.382-26G>A n.743-26G>A | gnomAD v4 |
X | g.136207767G>A | CA2579710136 | FHL1 | c.380-25G>A (n.380-25G>A) c.332-25G>A (n.332-25G>A) c.419-25G>A (n.419-25G>A) n.36-25G>A n.382-25G>A n.743-25G>A | gnomAD v4 |
X | g.136207768C>G | CA2823724347 | FHL1 | c.380-24C>G (n.380-24C>G) c.332-24C>G (n.332-24C>G) c.419-24C>G (n.419-24C>G) n.36-24C>G n.382-24C>G n.743-24C>G | |
X | g.136207768C>T | CA2694800455 | FHL1 | c.380-24C>T (n.380-24C>T) c.332-24C>T (n.332-24C>T) c.419-24C>T (n.419-24C>T) n.36-24C>T n.382-24C>T n.743-24C>T | gnomAD v4 |
X | g.136207771T>C | CA871864511 | FHL1 | c.380-21T>C (n.380-21T>C) c.332-21T>C (n.332-21T>C) c.419-21T>C (n.419-21T>C) n.36-21T>C n.382-21T>C n.743-21T>C | dbSNP |
X | g.136207771T= | CA2460259420 | FHL1 | c.380-21T= (n.380-21T=) c.332-21T= (n.332-21T=) c.419-21T= (n.419-21T=) n.36-21T= n.382-21T= n.743-21T= | |
X | g.136207772C>T | CA658522126 | FHL1 | c.380-20C>T (n.380-20C>T) c.332-20C>T (n.332-20C>T) c.419-20C>T (n.419-20C>T) n.36-20C>T n.382-20C>T n.743-20C>T | COSMIC |
X | g.136207775A= | CA2460259421 | FHL1 | c.380-17A= (n.380-17A=) c.332-17A= (n.332-17A=) c.419-17A= (n.419-17A=) n.36-17A= n.382-17A= n.743-17A= | |
X | g.136207775A>G | CA2460259422 | FHL1 | c.380-17A>G (n.380-17A>G) c.332-17A>G (n.332-17A>G) c.419-17A>G (n.419-17A>G) n.36-17A>G n.382-17A>G n.743-17A>G | dbSNP |
X | g.136207776T>C | CA10524995 | FHL1 | c.380-16T>C (n.380-16T>C) c.332-16T>C (n.332-16T>C) c.419-16T>C (n.419-16T>C) n.36-16T>C n.382-16T>C n.743-16T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.136207776T>G | CA2579710138 | FHL1 | c.380-16T>G (n.380-16T>G) c.332-16T>G (n.332-16T>G) c.419-16T>G (n.419-16T>G) n.36-16T>G n.382-16T>G n.743-16T>G | ClinVar |
X | g.136207776T= | CA2460259423 | FHL1 | c.380-16T= (n.380-16T=) c.332-16T= (n.332-16T=) c.419-16T= (n.419-16T=) n.36-16T= n.382-16T= n.743-16T= | |
X | g.136207778G>A | CA2694800456 | FHL1 | c.380-14G>A (n.380-14G>A) c.332-14G>A (n.332-14G>A) c.419-14G>A (n.419-14G>A) n.36-14G>A n.382-14G>A n.743-14G>A | ClinVar gnomAD v4 |
X | g.136207778G>C | CA10524996 | FHL1 | c.380-14G>C (n.380-14G>C) c.332-14G>C (n.332-14G>C) c.419-14G>C (n.419-14G>C) n.36-14G>C n.382-14G>C n.743-14G>C | dbSNP ExAC gnomAD v2 |
X | g.136207778G= | CA2460259424 | FHL1 | c.380-14G= (n.380-14G=) c.332-14G= (n.332-14G=) c.419-14G= (n.419-14G=) n.36-14G= n.382-14G= n.743-14G= | |
X | g.136207779C>T | CA2579710139 | FHL1 | c.380-13C>T (n.380-13C>T) c.332-13C>T (n.332-13C>T) c.419-13C>T (n.419-13C>T) n.36-13C>T n.382-13C>T n.743-13C>T | |
X | g.136207780T>A | CA2460259426 | FHL1 | c.380-12T>A (n.380-12T>A) c.332-12T>A (n.332-12T>A) c.419-12T>A (n.419-12T>A) n.36-12T>A n.382-12T>A n.743-12T>A | dbSNP |
X | g.136207780T= | CA2460259425 | FHL1 | c.380-12T= (n.380-12T=) c.332-12T= (n.332-12T=) c.419-12T= (n.419-12T=) n.36-12T= n.382-12T= n.743-12T= | |
X | g.136207781T= | CA2460259427 | FHL1 | c.380-11T= (n.380-11T=) c.332-11T= (n.332-11T=) c.419-11T= (n.419-11T=) n.36-11T= n.382-11T= n.743-11T= | |
X | g.136207782C= | CA2460259429 | FHL1 | c.380-10C= (n.380-10C=) c.332-10C= (n.332-10C=) c.419-10C= (n.419-10C=) n.36-10C= n.382-10C= n.743-10C= | |
X | g.136207782C>G | CA10524997 | FHL1 | c.380-10C>G (n.380-10C>G) c.332-10C>G (n.332-10C>G) c.419-10C>G (n.419-10C>G) n.36-10C>G n.382-10C>G n.743-10C>G | ClinVar dbSNP ExAC gnomAD v4 |
X | g.136207782C>T | CA2694800457 | FHL1 | c.380-10C>T (n.380-10C>T) c.332-10C>T (n.332-10C>T) c.419-10C>T (n.419-10C>T) n.36-10C>T n.382-10C>T n.743-10C>T | gnomAD v4 |
X | g.136207784dup | CA2460259428 | FHL1 | c.380-8dup (n.380-8dup) c.332-8dup (n.332-8dup) c.419-8dup (n.419-8dup) n.36-8dup n.382-8dup n.743-8dup | dbSNP |
X | g.136207783C>A | CA10524998 | FHL1 | c.380-9C>A (n.380-9C>A) c.332-9C>A (n.332-9C>A) c.419-9C>A (n.419-9C>A) n.36-9C>A n.382-9C>A n.743-9C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.136207783C= | CA2460259430 | FHL1 | c.380-9C= (n.380-9C=) c.332-9C= (n.332-9C=) c.419-9C= (n.419-9C=) n.36-9C= n.382-9C= n.743-9C= | |
X | g.136207783C>T | CA2460259431 | FHL1 | c.380-9C>T (n.380-9C>T) c.332-9C>T (n.332-9C>T) c.419-9C>T (n.419-9C>T) n.36-9C>T n.382-9C>T n.743-9C>T | ClinVar dbSNP |
X | g.136207784C= | CA2460259432 | FHL1 | c.380-8C= (n.380-8C=) c.332-8C= (n.332-8C=) c.419-8C= (n.419-8C=) n.36-8C= n.382-8C= n.743-8C= | |
X | g.136207784C>T | CA10524999 | FHL1 | c.380-8C>T (n.380-8C>T) c.332-8C>T (n.332-8C>T) c.419-8C>T (n.419-8C>T) n.36-8C>T n.382-8C>T n.743-8C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.136207785T>C | CA10525000 | FHL1 | c.380-7T>C (n.380-7T>C) c.332-7T>C (n.332-7T>C) c.419-7T>C (n.419-7T>C) n.36-7T>C n.382-7T>C n.743-7T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.136207785T= | CA2460259433 | FHL1 | c.380-7T= (n.380-7T=) c.332-7T= (n.332-7T=) c.419-7T= (n.419-7T=) n.36-7T= n.382-7T= n.743-7T= | |
X | g.136207786C>A | CA2840245759 | FHL1 | c.380-6C>A (n.380-6C>A) c.332-6C>A (n.332-6C>A) c.419-6C>A (n.419-6C>A) n.36-6C>A n.382-6C>A n.743-6C>A | |
X | g.136207786C>T | CA2697544826 | FHL1 | c.380-6C>T (n.380-6C>T) c.332-6C>T (n.332-6C>T) c.419-6C>T (n.419-6C>T) n.36-6C>T n.382-6C>T n.743-6C>T | ClinVar |
X | g.136207789C>T | CA645601390 | FHL1 | c.380-3C>T (n.380-3C>T) c.332-3C>T (n.332-3C>T) c.419-3C>T (n.419-3C>T) n.36-3C>T n.382-3C>T n.743-3C>T | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.136207790A>C | CA414608279 | FHL1 | c.380-2A>C (n.380-2A>C) c.332-2A>C (n.332-2A>C) c.419-2A>C (n.419-2A>C) n.36-2A>C n.382-2A>C n.743-2A>C | |
X | g.136207790A>G | CA414608280 | FHL1 | c.380-2A>G (n.380-2A>G) c.332-2A>G (n.332-2A>G) c.419-2A>G (n.419-2A>G) n.36-2A>G n.382-2A>G n.743-2A>G | ClinVar dbSNP |
X | g.136207790A>T | CA414608281 | FHL1 | c.380-2A>T (n.380-2A>T) c.332-2A>T (n.332-2A>T) c.419-2A>T (n.419-2A>T) n.36-2A>T n.382-2A>T n.743-2A>T | |
X | g.136207791G>A | CA414608282 | FHL1 | c.380-1G>A (n.380-1G>A) c.332-1G>A (n.332-1G>A) c.419-1G>A (n.419-1G>A) n.36-1G>A n.382-1G>A n.743-1G>A | |
X | g.136207791G>C | CA414608283 | FHL1 | c.380-1G>C (n.380-1G>C) c.332-1G>C (n.332-1G>C) c.419-1G>C (n.419-1G>C) n.36-1G>C n.382-1G>C n.743-1G>C | |
X | g.136207791G>T | CA414608284 | FHL1 | c.380-1G>T (n.380-1G>T) c.332-1G>T (n.332-1G>T) c.419-1G>T (n.419-1G>T) n.36-1G>T n.382-1G>T n.743-1G>T | |
X | g.136207792G>A | CA414608285 | FHL1 | c.380G>A (p.Gly127Glu) c.332G>A (p.Gly111Glu) c.419G>A (p.Gly140Glu) n.36G>A n.382G>A n.743G>A | |
X | g.136207792G>C | CA414608287 | FHL1 | c.380G>C (p.Gly127Ala) c.332G>C (p.Gly111Ala) c.419G>C (p.Gly140Ala) n.36G>C n.382G>C n.743G>C | |
X | g.136207792G>T | CA414608286 | FHL1 | c.380G>T (p.Gly127Val) c.332G>T (p.Gly111Val) c.419G>T (p.Gly140Val) n.36G>T n.382G>T n.743G>T | |
X | g.136207793A>C | CA518489081 | FHL1 | c.381A>C (p.Gly127=) c.333A>C (p.Gly111=) c.420A>C (p.Gly140=) n.37A>C n.383A>C n.744A>C | |
X | g.136207793A>G | CA518489082 | FHL1 | c.381A>G (p.Gly127=) c.333A>G (p.Gly111=) c.420A>G (p.Gly140=) n.37A>G n.383A>G n.744A>G | |
X | g.136207793A>T | CA518489084 | FHL1 | c.381A>T (p.Gly127=) c.333A>T (p.Gly111=) c.420A>T (p.Gly140=) n.37A>T n.383A>T n.744A>T | |
X | g.136207794G>A | CA10525001 | FHL1 | c.382G>A (p.Asp128Asn) c.334G>A (p.Asp112Asn) c.421G>A (p.Asp141Asn) n.38G>A n.384G>A n.745G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.136207794G>C | CA414608288 | FHL1 | c.382G>C (p.Asp128His) c.334G>C (p.Asp112His) c.421G>C (p.Asp141His) n.38G>C n.384G>C n.745G>C | |
X | g.136207794G= | CA2460259434 | FHL1 | c.382G= (p.Asp128=) c.334G= (p.Asp112=) c.421G= (p.Asp141=) n.38G= n.384G= n.745G= | |
X | g.136207794G>T | CA414608289 | FHL1 | c.382G>T (p.Asp128Tyr) c.334G>T (p.Asp112Tyr) c.421G>T (p.Asp141Tyr) n.38G>T n.384G>T n.745G>T | |
X | g.136207795A>C | CA414608290 | FHL1 | c.383A>C (p.Asp128Ala) c.335A>C (p.Asp112Ala) c.422A>C (p.Asp141Ala) n.39A>C n.385A>C n.746A>C | |
X | g.136207795A>G | CA414608291 | FHL1 | c.383A>G (p.Asp128Gly) c.335A>G (p.Asp112Gly) c.422A>G (p.Asp141Gly) n.39A>G n.385A>G n.746A>G | |
X | g.136207795A>T | CA414608292 | FHL1 | c.383A>T (p.Asp128Val) c.335A>T (p.Asp112Val) c.422A>T (p.Asp141Val) n.39A>T n.385A>T n.746A>T | |
X | g.136207796T>A | CA414608293 | FHL1 | c.384T>A (p.Asp128Glu) c.336T>A (p.Asp112Glu) c.423T>A (p.Asp141Glu) n.40T>A n.386T>A n.747T>A | |
X | g.136207796T>C | CA518489089 | FHL1 | c.384T>C (p.Asp128=) c.336T>C (p.Asp112=) c.423T>C (p.Asp141=) n.40T>C n.386T>C n.747T>C | |
X | g.136207796T>G | CA414608294 | FHL1 | c.384T>G (p.Asp128Glu) c.336T>G (p.Asp112Glu) c.423T>G (p.Asp141Glu) n.40T>G n.386T>G n.747T>G | |
X | g.136207797C>A | CA414608295 | FHL1 | c.385C>A (p.Gln129Lys) c.337C>A (p.Gln113Lys) c.424C>A (p.Gln142Lys) n.41C>A n.387C>A n.748C>A | ClinVar dbSNP |
X | g.136207797C= | CA2460259435 | FHL1 | c.385C= (p.Gln129=) c.337C= (p.Gln113=) c.424C= (p.Gln142=) n.41C= n.387C= n.748C= | |
X | g.136207797C>G | CA414608296 | FHL1 | c.385C>G (p.Gln129Glu) c.337C>G (p.Gln113Glu) c.424C>G (p.Gln142Glu) n.41C>G n.387C>G n.748C>G | gnomAD v4 |
X | g.136207797C>T | CA414608297 | FHL1 | c.385C>T (p.Gln129Ter) c.337C>T (p.Gln113Ter) c.424C>T (p.Gln142Ter) n.41C>T n.387C>T n.748C>T | |
X | g.136207798A>C | CA414608298 | FHL1 | c.386A>C (p.Gln129Pro) c.338A>C (p.Gln113Pro) c.425A>C (p.Gln142Pro) n.42A>C n.388A>C n.749A>C | |
X | g.136207798A>G | CA414608299 | FHL1 | c.386A>G (p.Gln129Arg) c.338A>G (p.Gln113Arg) c.425A>G (p.Gln142Arg) n.42A>G n.388A>G n.749A>G | |
X | g.136207798A>T | CA414608300 | FHL1 | c.386A>T (p.Gln129Leu) c.338A>T (p.Gln113Leu) c.425A>T (p.Gln142Leu) n.42A>T n.388A>T n.749A>T | |
X | g.136207799A= | CA2460259436 | FHL1 | c.387A= (p.Gln129=) c.339A= (p.Gln113=) c.426A= (p.Gln142=) n.43A= n.389A= n.750A= | |
X | g.136207799A>C | CA414608302 | FHL1 | c.387A>C (p.Gln129His) c.339A>C (p.Gln113His) c.426A>C (p.Gln142His) n.43A>C n.389A>C n.750A>C | |
X | g.136207799A>G | CA518489096 | FHL1 | c.387A>G (p.Gln129=) c.339A>G (p.Gln113=) c.426A>G (p.Gln142=) n.43A>G n.389A>G n.750A>G | |
X | g.136207799A>T | CA414608301 | FHL1 | c.387A>T (p.Gln129His) c.339A>T (p.Gln113His) c.426A>T (p.Gln142His) n.43A>T n.389A>T n.750A>T | |
X | g.136207800A>C | CA414608303 | FHL1 | c.388A>C (p.Asn130His) c.340A>C (p.Asn114His) c.427A>C (p.Asn143His) n.44A>C n.390A>C n.751A>C | |
X | g.136207800A>G | CA414608304 | FHL1 | c.388A>G (p.Asn130Asp) c.340A>G (p.Asn114Asp) c.427A>G (p.Asn143Asp) n.44A>G n.390A>G n.751A>G | |
X | g.136207800A>T | CA414608305 | FHL1 | c.388A>T (p.Asn130Tyr) c.340A>T (p.Asn114Tyr) c.427A>T (p.Asn143Tyr) n.44A>T n.390A>T n.751A>T | |
X | g.136207800_136207802dup | CA2460259437 | FHL1 | c.388_390dup (p.Asn130_Val131insAsn) c.340_342dup (p.Asn114_Val115insAsn) c.427_429dup (p.Asn143_Val144insAsn) n.44_46dup n.390_392dup n.751_753dup | ClinVar dbSNP |
X | g.136207801A>C | CA414608306 | FHL1 | c.389A>C (p.Asn130Thr) c.341A>C (p.Asn114Thr) c.428A>C (p.Asn143Thr) n.45A>C n.391A>C n.752A>C | |
X | g.136207801A>G | CA414608307 | FHL1 | c.389A>G (p.Asn130Ser) c.341A>G (p.Asn114Ser) c.428A>G (p.Asn143Ser) n.45A>G n.391A>G n.752A>G | |
X | g.136207801A>T | CA414608308 | FHL1 | c.389A>T (p.Asn130Ile) c.341A>T (p.Asn114Ile) c.428A>T (p.Asn143Ile) n.45A>T n.391A>T n.752A>T | COSMIC COSMIC COSMIC COSMIC |
X | g.136207802C>A | CA414608310 | FHL1 | c.390C>A (p.Asn130Lys) c.342C>A (p.Asn114Lys) c.429C>A (p.Asn143Lys) n.46C>A n.392C>A n.753C>A | |
X | g.136207802C= | CA2460259438 | FHL1 | c.390C= (p.Asn130=) c.342C= (p.Asn114=) c.429C= (p.Asn143=) n.46C= n.392C= n.753C= | |
X | g.136207802C>G | CA414608309 | FHL1 | c.390C>G (p.Asn130Lys) c.342C>G (p.Asn114Lys) c.429C>G (p.Asn143Lys) n.46C>G n.392C>G n.753C>G | gnomAD v4 |
X | g.136207802C>T | CA336094690 | FHL1 | c.390C>T (p.Asn130=) c.342C>T (p.Asn114=) c.429C>T (p.Asn143=) n.46C>T n.392C>T n.753C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.136207803G>A | CA10525003 | FHL1 | c.391G>A (p.Val131Met) c.343G>A (p.Val115Met) c.430G>A (p.Val144Met) n.47G>A n.393G>A n.754G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.136207803G>C | CA414608311 | FHL1 | c.391G>C (p.Val131Leu) c.343G>C (p.Val115Leu) c.430G>C (p.Val144Leu) n.47G>C n.393G>C n.754G>C | |
X | g.136207803G= | CA2460259439 | FHL1 | c.391G= (p.Val131=) c.343G= (p.Val115=) c.430G= (p.Val144=) n.47G= n.393G= n.754G= | |
X | g.136207803G>T | CA10525002 | FHL1 | c.391G>T (p.Val131Leu) c.343G>T (p.Val115Leu) c.430G>T (p.Val144Leu) n.47G>T n.393G>T n.754G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.136207804T>A | CA414608312 | FHL1 | c.392T>A (p.Val131Glu) c.344T>A (p.Val115Glu) c.431T>A (p.Val144Glu) n.48T>A n.394T>A n.755T>A | |
X | g.136207804T>C | CA414608313 | FHL1 | c.392T>C (p.Val131Ala) c.344T>C (p.Val115Ala) c.431T>C (p.Val144Ala) n.48T>C n.394T>C n.755T>C | |
X | g.136207804T>G | CA414608314 | FHL1 | c.392T>G (p.Val131Gly) c.344T>G (p.Val115Gly) c.431T>G (p.Val144Gly) n.48T>G n.394T>G n.755T>G | |
X | g.136207805G>A | CA518489102 | FHL1 | c.393G>A (p.Val131=) c.345G>A (p.Val115=) c.432G>A (p.Val144=) n.49G>A n.395G>A n.756G>A | ClinVar dbSNP |
X | g.136207805G>C | CA518489104 | FHL1 | c.393G>C (p.Val131=) c.345G>C (p.Val115=) c.432G>C (p.Val144=) n.49G>C n.395G>C n.756G>C | |
X | g.136207805G>T | CA518489106 | FHL1 | c.393G>T (p.Val131=) c.345G>T (p.Val115=) c.432G>T (p.Val144=) n.49G>T n.395G>T n.756G>T | |
X | g.136207805_136207806dup | CA2580101567 | FHL1 | c.393_394dup (p.Glu132GlyfsTer?) c.345_346dup (p.Glu116GlyfsTer?) c.432_433dup (p.Glu145GlyfsTer?) n.49_50dup n.395_396dup n.756_757dup | ClinVar |
X | g.136207806G>A | CA414608315 | FHL1 | c.394G>A (p.Glu132Lys) c.346G>A (p.Glu116Lys) c.433G>A (p.Glu145Lys) n.50G>A n.396G>A n.757G>A | gnomAD v4 |
X | g.136207806G>C | CA414608317 | FHL1 | c.394G>C (p.Glu132Gln) c.346G>C (p.Glu116Gln) c.433G>C (p.Glu145Gln) n.50G>C n.396G>C n.757G>C | |
X | g.136207806G>T | CA414608316 | FHL1 | c.394G>T (p.Glu132Ter) c.346G>T (p.Glu116Ter) c.433G>T (p.Glu145Ter) n.50G>T n.396G>T n.757G>T | |
X | g.136207807A>C | CA414608318 | FHL1 | c.395A>C (p.Glu132Ala) c.347A>C (p.Glu116Ala) c.434A>C (p.Glu145Ala) n.51A>C n.397A>C n.758A>C | |
X | g.136207807A>G | CA414608319 | FHL1 | c.395A>G (p.Glu132Gly) c.347A>G (p.Glu116Gly) c.434A>G (p.Glu145Gly) n.51A>G n.397A>G n.758A>G | |
X | g.136207807A>T | CA414608320 | FHL1 | c.395A>T (p.Glu132Val) c.347A>T (p.Glu116Val) c.434A>T (p.Glu145Val) n.51A>T n.397A>T n.758A>T | |
X | g.136207808G>A | CA518489111 | FHL1 | c.396G>A (p.Glu132=) c.348G>A (p.Glu116=) c.435G>A (p.Glu145=) n.52G>A n.398G>A n.759G>A | |
X | g.136207808G>C | CA414608321 | FHL1 | c.396G>C (p.Glu132Asp) c.348G>C (p.Glu116Asp) c.435G>C (p.Glu145Asp) n.52G>C n.398G>C n.759G>C | |
X | g.136207808G>T | CA414608322 | FHL1 | c.396G>T (p.Glu132Asp) c.348G>T (p.Glu116Asp) c.435G>T (p.Glu145Asp) n.52G>T n.398G>T n.759G>T | |
X | g.136207809T>A | CA414608325 | FHL1 | c.397T>A (p.Tyr133Asn) c.349T>A (p.Tyr117Asn) c.436T>A (p.Tyr146Asn) n.53T>A n.399T>A n.760T>A | |
X | g.136207809T>C | CA414608324 | FHL1 | c.397T>C (p.Tyr133His) c.349T>C (p.Tyr117His) c.436T>C (p.Tyr146His) n.53T>C n.399T>C n.760T>C | |
X | g.136207809T>G | CA414608323 | FHL1 | c.397T>G (p.Tyr133Asp) c.349T>G (p.Tyr117Asp) c.436T>G (p.Tyr146Asp) n.53T>G n.399T>G n.760T>G | |
X | g.136207810A>C | CA414608326 | FHL1 | c.398A>C (p.Tyr133Ser) c.350A>C (p.Tyr117Ser) c.437A>C (p.Tyr146Ser) n.54A>C n.400A>C n.761A>C | |
X | g.136207810A>G | CA414608327 | FHL1 | c.398A>G (p.Tyr133Cys) c.350A>G (p.Tyr117Cys) c.437A>G (p.Tyr146Cys) n.54A>G n.400A>G n.761A>G | ClinVar |
X | g.136207810A>T | CA414608328 | FHL1 | c.398A>T (p.Tyr133Phe) c.350A>T (p.Tyr117Phe) c.437A>T (p.Tyr146Phe) n.54A>T n.400A>T n.761A>T | |
X | g.136207811C>A | CA414608329 | FHL1 | c.399C>A (p.Tyr133Ter) c.351C>A (p.Tyr117Ter) c.438C>A (p.Tyr146Ter) n.55C>A n.401C>A n.762C>A | |
X | g.136207811C= | CA2460259440 | FHL1 | c.399C= (p.Tyr133=) c.351C= (p.Tyr117=) c.438C= (p.Tyr146=) n.55C= n.401C= n.762C= | |
X | g.136207811C>G | CA414608330 | FHL1 | c.399C>G (p.Tyr133Ter) c.351C>G (p.Tyr117Ter) c.438C>G (p.Tyr146Ter) n.55C>G n.401C>G n.762C>G | |
X | g.136207811C>T | CA336094715 | FHL1 | c.399C>T (p.Tyr133=) c.351C>T (p.Tyr117=) c.438C>T (p.Tyr146=) n.55C>T n.401C>T n.762C>T | dbSNP |
X | g.136207812A= | CA2460259441 | FHL1 | c.400A= (p.Lys134=) c.352A= (p.Lys118=) c.439A= (p.Lys147=) n.56A= n.402A= n.763A= | |
X | g.136207812A>C | CA414608331 | FHL1 | c.400A>C (p.Lys134Gln) c.352A>C (p.Lys118Gln) c.439A>C (p.Lys147Gln) n.56A>C n.402A>C n.763A>C | |
X | g.136207812A>G | CA10525004 | FHL1 | c.400A>G (p.Lys134Glu) c.352A>G (p.Lys118Glu) c.439A>G (p.Lys147Glu) n.56A>G n.402A>G n.763A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.136207812A>T | CA414608332 | FHL1 | c.400A>T (p.Lys134Ter) c.352A>T (p.Lys118Ter) c.439A>T (p.Lys147Ter) n.56A>T n.402A>T n.763A>T | |
X | g.136207813A= | CA2460259442 | FHL1 | c.401A= (p.Lys134=) c.353A= (p.Lys118=) c.440A= (p.Lys147=) n.57A= n.403A= n.764A= | |
X | g.136207813A>C | CA414608333 | FHL1 | c.401A>C (p.Lys134Thr) c.353A>C (p.Lys118Thr) c.440A>C (p.Lys147Thr) n.57A>C n.403A>C n.764A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.136207813A>G | CA414608334 | FHL1 | c.401A>G (p.Lys134Arg) c.353A>G (p.Lys118Arg) c.440A>G (p.Lys147Arg) n.57A>G n.403A>G n.764A>G | |
X | g.136207813A>T | CA414608335 | FHL1 | c.401A>T (p.Lys134Met) c.353A>T (p.Lys118Met) c.440A>T (p.Lys147Met) n.57A>T n.403A>T n.764A>T | COSMIC COSMIC COSMIC |
X | g.136207814G>A | CA518489122 | FHL1 | c.402G>A (p.Lys134=) c.354G>A (p.Lys118=) c.441G>A (p.Lys147=) n.58G>A n.404G>A n.765G>A | |
X | g.136207814G>C | CA414608336 | FHL1 | c.402G>C (p.Lys134Asn) c.354G>C (p.Lys118Asn) c.441G>C (p.Lys147Asn) n.58G>C n.404G>C n.765G>C | |
X | g.136207814G>T | CA414608337 | FHL1 | c.402G>T (p.Lys134Asn) c.354G>T (p.Lys118Asn) c.441G>T (p.Lys147Asn) n.58G>T n.404G>T n.765G>T | |
X | g.136207815G>A | CA414608338 | FHL1 | c.403G>A (p.Gly135Arg) c.355G>A (p.Gly119Arg) c.442G>A (p.Gly148Arg) n.59G>A n.405G>A n.766G>A | |
X | g.136207815G>C | CA414608339 | FHL1 | c.403G>C (p.Gly135Arg) c.355G>C (p.Gly119Arg) c.442G>C (p.Gly148Arg) n.59G>C n.405G>C n.766G>C | |
X | g.136207815G= | CA2460259443 | FHL1 | c.403G= (p.Gly135=) c.355G= (p.Gly119=) c.442G= (p.Gly148=) n.59G= n.405G= n.766G= | |
X | g.136207815G>T | CA10525005 | FHL1 | c.403G>T (p.Gly135Trp) c.355G>T (p.Gly119Trp) c.442G>T (p.Gly148Trp) n.59G>T n.405G>T n.766G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.136207816G>A | CA414608340 | FHL1 | c.404G>A (p.Gly135Glu) c.356G>A (p.Gly119Glu) c.443G>A (p.Gly148Glu) n.60G>A n.406G>A n.767G>A | |
X | g.136207816G>C | CA336094734 | FHL1 | c.404G>C (p.Gly135Ala) c.356G>C (p.Gly119Ala) c.443G>C (p.Gly148Ala) n.60G>C n.406G>C n.767G>C | ClinVar dbSNP gnomAD v4 |
X | g.136207816G= | CA2460259444 | FHL1 | c.404G= (p.Gly135=) c.356G= (p.Gly119=) c.443G= (p.Gly148=) n.60G= n.406G= n.767G= | |
X | g.136207816G>T | CA10604266 | FHL1 | c.404G>T (p.Gly135Val) c.356G>T (p.Gly119Val) c.443G>T (p.Gly148Val) n.60G>T n.406G>T n.767G>T | ClinVar dbSNP |
X | g.136207817G>A | CA518489123 | FHL1 | c.405G>A (p.Gly135=) c.357G>A (p.Gly119=) c.444G>A (p.Gly148=) n.61G>A n.407G>A n.768G>A | |
X | g.136207817G>C | CA518489124 | FHL1 | c.405G>C (p.Gly135=) c.357G>C (p.Gly119=) c.444G>C (p.Gly148=) n.61G>C n.407G>C n.768G>C | |
X | g.136207817G>T | CA518489125 | FHL1 | c.405G>T (p.Gly135=) c.357G>T (p.Gly119=) c.444G>T (p.Gly148=) n.61G>T n.407G>T n.768G>T | |
X | g.136207818_136207821dup | CA891844504 | FHL1 | c.406_409dup (p.Val137AspfsTer11) c.358_361dup (p.Val121AspfsTer11) c.445_448dup (p.Val150AspfsTer11) n.62_65dup n.408_411dup n.769_772dup | ClinVar dbSNP |
X | g.136207818A>C | CA414608342 | FHL1 | c.406A>C (p.Thr136Pro) c.358A>C (p.Thr120Pro) c.445A>C (p.Thr149Pro) n.62A>C n.408A>C n.769A>C | |
X | g.136207818A>G | CA414608343 | FHL1 | c.406A>G (p.Thr136Ala) c.358A>G (p.Thr120Ala) c.445A>G (p.Thr149Ala) n.62A>G n.408A>G n.769A>G | |
X | g.136207818A>T | CA414608341 | FHL1 | c.406A>T (p.Thr136Ser) c.358A>T (p.Thr120Ser) c.445A>T (p.Thr149Ser) n.62A>T n.408A>T n.769A>T | |
X | g.136207819C>A | CA414608345 | FHL1 | c.407C>A (p.Thr136Asn) c.359C>A (p.Thr120Asn) c.446C>A (p.Thr149Asn) n.63C>A n.409C>A n.770C>A | |
X | g.136207819C>G | CA414608344 | FHL1 | c.407C>G (p.Thr136Ser) c.359C>G (p.Thr120Ser) c.446C>G (p.Thr149Ser) n.63C>G n.409C>G n.770C>G | |
X | g.136207819C>T | CA414608346 | FHL1 | c.407C>T (p.Thr136Ile) c.359C>T (p.Thr120Ile) c.446C>T (p.Thr149Ile) n.63C>T n.409C>T n.770C>T | COSMIC COSMIC COSMIC |
X | g.136207820C>A | CA518489130 | FHL1 | c.408C>A (p.Thr136=) c.360C>A (p.Thr120=) c.447C>A (p.Thr149=) n.64C>A n.410C>A n.771C>A | |
X | g.136207820C= | CA2460259445 | FHL1 | c.408C= (p.Thr136=) c.360C= (p.Thr120=) c.447C= (p.Thr149=) n.64C= n.410C= n.771C= | |
X | g.136207820C>G | CA518489131 | FHL1 | c.408C>G (p.Thr136=) c.360C>G (p.Thr120=) c.447C>G (p.Thr149=) n.64C>G n.410C>G n.771C>G | |
X | g.136207820C>T | CA10525006 | FHL1 | c.408C>T (p.Thr136=) c.360C>T (p.Thr120=) c.447C>T (p.Thr149=) n.64C>T n.410C>T n.771C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.136207821G>A | CA10525007 | FHL1 | c.409G>A (p.Val137Ile) c.361G>A (p.Val121Ile) c.448G>A (p.Val150Ile) n.65G>A n.411G>A n.772G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.136207821G>C | CA414608347 | FHL1 | c.409G>C (p.Val137Leu) c.361G>C (p.Val121Leu) c.448G>C (p.Val150Leu) n.65G>C n.411G>C n.772G>C | |
X | g.136207821G= | CA2460259446 | FHL1 | c.409G= (p.Val137=) c.361G= (p.Val121=) c.448G= (p.Val150=) n.65G= n.411G= n.772G= | |
X | g.136207821G>T | CA414608348 | FHL1 | c.409G>T (p.Val137Phe) c.361G>T (p.Val121Phe) c.448G>T (p.Val150Phe) n.65G>T n.411G>T n.772G>T | gnomAD v4 |
X | g.136207822T>A | CA414608349 | FHL1 | c.410T>A (p.Val137Asp) c.362T>A (p.Val121Asp) c.449T>A (p.Val150Asp) n.66T>A n.412T>A n.773T>A | |
X | g.136207822T>C | CA414608350 | FHL1 | c.410T>C (p.Val137Ala) c.362T>C (p.Val121Ala) c.449T>C (p.Val150Ala) n.66T>C n.412T>C n.773T>C | |
X | g.136207822T>G | CA414608351 | FHL1 | c.410T>G (p.Val137Gly) c.362T>G (p.Val121Gly) c.449T>G (p.Val150Gly) n.66T>G n.412T>G n.773T>G | |
X | g.136207823C>A | CA518489275 | FHL1 | c.411C>A (p.Val137=) c.363C>A (p.Val121=) c.450C>A (p.Val150=) n.67C>A n.413C>A n.774C>A | |
X | g.136207823C>G | CA518489274 | FHL1 | c.411C>G (p.Val137=) c.363C>G (p.Val121=) c.450C>G (p.Val150=) n.67C>G n.413C>G n.774C>G | |
X | g.136207823C>T | CA518489276 | FHL1 | c.411C>T (p.Val137=) c.363C>T (p.Val121=) c.450C>T (p.Val150=) n.67C>T n.413C>T n.774C>T | |
X | g.136207824T>A | CA414608354 | FHL1 | c.412T>A (p.Trp138Arg) c.364T>A (p.Trp122Arg) c.451T>A (p.Trp151Arg) n.68T>A n.414T>A n.775T>A | |
X | g.136207824T>C | CA414608353 | FHL1 | c.412T>C (p.Trp138Arg) c.364T>C (p.Trp122Arg) c.451T>C (p.Trp151Arg) n.68T>C n.414T>C n.775T>C | |
X | g.136207824T>G | CA414608352 | FHL1 | c.412T>G (p.Trp138Gly) c.364T>G (p.Trp122Gly) c.451T>G (p.Trp151Gly) n.68T>G n.414T>G n.775T>G | |
X | g.136207825G>A | CA414608355 | FHL1 | c.413G>A (p.Trp138Ter) c.365G>A (p.Trp122Ter) c.452G>A (p.Trp151Ter) n.69G>A n.415G>A n.776G>A | ClinVar dbSNP |
X | g.136207825G>C | CA210529 | FHL1 | c.413G>C (p.Trp138Ser) c.365G>C (p.Trp122Ser) c.452G>C (p.Trp151Ser) n.69G>C n.415G>C n.776G>C | ClinVar dbSNP |
X | g.136207825G= | CA2460259447 | FHL1 | c.413G= (p.Trp138=) c.365G= (p.Trp122=) c.452G= (p.Trp151=) n.69G= n.415G= n.776G= | |
X | g.136207825G>T | CA414608356 | FHL1 | c.413G>T (p.Trp138Leu) c.365G>T (p.Trp122Leu) c.452G>T (p.Trp151Leu) n.69G>T n.415G>T n.776G>T | |
X | g.136207826del | CA2573159246 | FHL1 | c.414del (p.Trp138CysfsTer30) c.366del (p.Trp122CysfsTer30) c.366del (p.Trp122CysfsTer?) c.453del (p.Trp151CysfsTer30) n.70del n.416del n.777del | ClinVar dbSNP |
X | g.136207826G>A | CA414608357 | FHL1 | c.414G>A (p.Trp138Ter) c.366G>A (p.Trp122Ter) c.453G>A (p.Trp151Ter) n.70G>A n.416G>A n.777G>A | dbSNP |
X | g.136207826G>C | CA414608358 | FHL1 | c.414G>C (p.Trp138Cys) c.366G>C (p.Trp122Cys) c.453G>C (p.Trp151Cys) n.70G>C n.416G>C n.777G>C | ClinVar dbSNP |
X | g.136207826G= | CA2460259448 | FHL1 | c.414G= (p.Trp138=) c.366G= (p.Trp122=) c.453G= (p.Trp151=) n.70G= n.416G= n.777G= | |
X | g.136207826G>T | CA414608359 | FHL1 | c.414G>T (p.Trp138Cys) c.366G>T (p.Trp122Cys) c.453G>T (p.Trp151Cys) n.70G>T n.416G>T n.777G>T | |
X | g.136207827C>A | CA414608360 | FHL1 | c.415C>A (p.His139Asn) c.367C>A (p.His123Asn) c.454C>A (p.His152Asn) n.71C>A n.417C>A n.778C>A | |
X | g.136207827C= | CA2460259449 | FHL1 | c.415C= (p.His139=) c.367C= (p.His123=) c.454C= (p.His152=) n.71C= n.417C= n.778C= | |
X | g.136207827C>G | CA414608361 | FHL1 | c.415C>G (p.His139Asp) c.367C>G (p.His123Asp) c.454C>G (p.His152Asp) n.71C>G n.417C>G n.778C>G | |
X | g.136207827C>T | CA121544 | FHL1 | c.415C>T (p.His139Tyr) c.367C>T (p.His123Tyr) c.454C>T (p.His152Tyr) n.71C>T n.417C>T n.778C>T | ClinVar dbSNP |
X | g.136207828A= | CA2460259450 | FHL1 | c.416A= (p.His139=) c.368A= (p.His123=) c.455A= (p.His152=) n.72A= n.418A= n.779A= | |
X | g.136207828A>C | CA414608362 | FHL1 | c.416A>C (p.His139Pro) c.368A>C (p.His123Pro) c.455A>C (p.His152Pro) n.72A>C n.418A>C n.779A>C | |
X | g.136207828A>G | CA414608363 | FHL1 | c.416A>G (p.His139Arg) c.368A>G (p.His123Arg) c.455A>G (p.His152Arg) n.72A>G n.418A>G n.779A>G | ClinVar dbSNP |
X | g.136207828A>T | CA121568 | FHL1 | c.416A>T (p.His139Leu) c.368A>T (p.His123Leu) c.455A>T (p.His152Leu) n.72A>T n.418A>T n.779A>T | ClinVar dbSNP |
X | g.136207830_136207835del | CA2695237509 | FHL1 | c.418_423del (p.Lys140_Asp141del) c.370_375del (p.Lys124_Asp125del) c.457_462del (p.Lys153_Asp154del) n.74_79del n.420_425del n.781_786del | |
X | g.136207829C>A | CA414608364 | FHL1 | c.417C>A (p.His139Gln) c.369C>A (p.His123Gln) c.456C>A (p.His152Gln) n.73C>A n.419C>A n.780C>A | ClinVar dbSNP |
X | g.136207829C= | CA2460259451 | FHL1 | c.417C= (p.His139=) c.369C= (p.His123=) c.456C= (p.His152=) n.73C= n.419C= n.780C= | |
X | g.136207829C>G | CA121571 | FHL1 | c.417C>G (p.His139Gln) c.369C>G (p.His123Gln) c.456C>G (p.His152Gln) n.73C>G n.419C>G n.780C>G | ClinVar dbSNP |
X | g.136207829C>T | CA518489285 | FHL1 | c.417C>T (p.His139=) c.369C>T (p.His123=) c.456C>T (p.His152=) n.73C>T n.419C>T n.780C>T | |
X | g.136207829_136207831delinsCAA | CA2460259452 | FHL1 | c.417_419delinsCAA (p.His139=) c.369_371delinsCAA (p.His123=) c.456_458delinsCAA (p.His152=) n.73_75delinsCAA n.419_421delinsCAA n.780_782delinsCAA | |
X | g.136207830A>C | CA414608365 | FHL1 | c.418A>C (p.Lys140Gln) c.370A>C (p.Lys124Gln) c.457A>C (p.Lys153Gln) n.74A>C n.420A>C n.781A>C | |
X | g.136207830A>G | CA414608366 | FHL1 | c.418A>G (p.Lys140Glu) c.370A>G (p.Lys124Glu) c.457A>G (p.Lys153Glu) n.74A>G n.420A>G n.781A>G | |
X | g.136207830A>T | CA414608367 | FHL1 | c.418A>T (p.Lys140Ter) c.370A>T (p.Lys124Ter) c.457A>T (p.Lys153Ter) n.74A>T n.420A>T n.781A>T | |
X | g.136207831_136207832del | CA1139667812 | FHL1 | c.419_420del (p.Lys140ArgfsTer6) c.371_372del (p.Lys124ArgfsTer6) c.458_459del (p.Lys153ArgfsTer6) n.75_76del n.421_422del n.782_783del | ClinVar dbSNP |
X | g.136207831A>C | CA414608368 | FHL1 | c.419A>C (p.Lys140Thr) c.371A>C (p.Lys124Thr) c.458A>C (p.Lys153Thr) n.75A>C n.421A>C n.782A>C | |
X | g.136207831A>G | CA414608369 | FHL1 | c.419A>G (p.Lys140Arg) c.371A>G (p.Lys124Arg) c.458A>G (p.Lys153Arg) n.75A>G n.421A>G n.782A>G | ClinVar |
X | g.136207831A>T | CA414608370 | FHL1 | c.419A>T (p.Lys140Ile) c.371A>T (p.Lys124Ile) c.458A>T (p.Lys153Ile) n.75A>T n.421A>T n.782A>T | |
X | g.136207832A>C | CA414608371 | FHL1 | c.420A>C (p.Lys140Asn) c.372A>C (p.Lys124Asn) c.459A>C (p.Lys153Asn) n.76A>C n.422A>C n.783A>C | |
X | g.136207832A>G | CA518489286 | FHL1 | c.420A>G (p.Lys140=) c.372A>G (p.Lys124=) c.459A>G (p.Lys153=) n.76A>G n.422A>G n.783A>G | |
X | g.136207832A>T | CA414608372 | FHL1 | c.420A>T (p.Lys140Asn) c.372A>T (p.Lys124Asn) c.459A>T (p.Lys153Asn) n.76A>T n.422A>T n.783A>T | |
X | g.136207833G>A | CA414608373 | FHL1 | c.421G>A (p.Asp141Asn) c.373G>A (p.Asp125Asn) c.460G>A (p.Asp154Asn) n.77G>A n.423G>A n.784G>A | |
X | g.136207833G>C | CA414608374 | FHL1 | c.421G>C (p.Asp141His) c.373G>C (p.Asp125His) c.460G>C (p.Asp154His) n.77G>C n.423G>C n.784G>C | |
X | g.136207833G>T | CA414608375 | FHL1 | c.421G>T (p.Asp141Tyr) c.373G>T (p.Asp125Tyr) c.460G>T (p.Asp154Tyr) n.77G>T n.423G>T n.784G>T | ClinVar dbSNP gnomAD v4 |
X | g.136207834A= | CA2460259453 | FHL1 | c.422A= (p.Asp141=) c.374A= (p.Asp125=) c.461A= (p.Asp154=) n.78A= n.424A= n.785A= | |
X | g.136207834A>C | CA414608376 | FHL1 | c.422A>C (p.Asp141Ala) c.374A>C (p.Asp125Ala) c.461A>C (p.Asp154Ala) n.78A>C n.424A>C n.785A>C | |
X | g.136207834A>G | CA414608377 | FHL1 | c.422A>G (p.Asp141Gly) c.374A>G (p.Asp125Gly) c.461A>G (p.Asp154Gly) n.78A>G n.424A>G n.785A>G | ClinVar dbSNP |
X | g.136207834A>T | CA414608378 | FHL1 | c.422A>T (p.Asp141Val) c.374A>T (p.Asp125Val) c.461A>T (p.Asp154Val) n.78A>T n.424A>T n.785A>T | |
X | g.136207835C>A | CA414608380 | FHL1 | c.423C>A (p.Asp141Glu) c.375C>A (p.Asp125Glu) c.462C>A (p.Asp154Glu) n.79C>A n.425C>A n.786C>A | |
X | g.136207835C>G | CA414608379 | FHL1 | c.423C>G (p.Asp141Glu) c.375C>G (p.Asp125Glu) c.462C>G (p.Asp154Glu) n.79C>G n.425C>G n.786C>G | gnomAD v4 |
X | g.136207835C>T | CA518489287 | FHL1 | c.423C>T (p.Asp141=) c.375C>T (p.Asp125=) c.462C>T (p.Asp154=) n.79C>T n.425C>T n.786C>T | |
X | g.136207836T>A | CA414608381 | FHL1 | c.424T>A (p.Cys142Ser) c.376T>A (p.Cys126Ser) c.463T>A (p.Cys155Ser) n.80T>A n.426T>A n.787T>A | |
X | g.136207836T>C | CA414608382 | FHL1 | c.424T>C (p.Cys142Arg) c.376T>C (p.Cys126Arg) c.463T>C (p.Cys155Arg) n.80T>C n.426T>C n.787T>C | ClinVar dbSNP |
X | g.136207836T>G | CA414608383 | FHL1 | c.424T>G (p.Cys142Gly) c.376T>G (p.Cys126Gly) c.463T>G (p.Cys155Gly) n.80T>G n.426T>G n.787T>G | |
X | g.136207836T= | CA2460259454 | FHL1 | c.424T= (p.Cys142=) c.376T= (p.Cys126=) c.463T= (p.Cys155=) n.80T= n.426T= n.787T= | |
X | g.136207837G>A | CA414608384 | FHL1 | c.425G>A (p.Cys142Tyr) c.377G>A (p.Cys126Tyr) c.464G>A (p.Cys155Tyr) n.81G>A n.427G>A n.788G>A | |
X | g.136207837G>C | CA414608385 | FHL1 | c.425G>C (p.Cys142Ser) c.377G>C (p.Cys126Ser) c.464G>C (p.Cys155Ser) n.81G>C n.427G>C n.788G>C | ClinVar |
X | g.136207837G>T | CA414608386 | FHL1 | c.425G>T (p.Cys142Phe) c.377G>T (p.Cys126Phe) c.464G>T (p.Cys155Phe) n.81G>T n.427G>T n.788G>T | COSMIC COSMIC COSMIC COSMIC |
X | g.136207838C>A | CA414608387 | FHL1 | c.426C>A (p.Cys142Ter) c.378C>A (p.Cys126Ter) c.465C>A (p.Cys155Ter) n.82C>A n.428C>A n.789C>A | |
X | g.136207838C= | CA2460259455 | FHL1 | c.426C= (p.Cys142=) c.378C= (p.Cys126=) c.465C= (p.Cys155=) n.82C= n.428C= n.789C= | |
X | g.136207838C>G | CA414608388 | FHL1 | c.426C>G (p.Cys142Trp) c.378C>G (p.Cys126Trp) c.465C>G (p.Cys155Trp) n.82C>G n.428C>G n.789C>G | |
X | g.136207838C>T | CA10525008 | FHL1 | c.426C>T (p.Cys142=) c.378C>T (p.Cys126=) c.465C>T (p.Cys155=) n.82C>T n.428C>T n.789C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.136207839T>A | CA414608389 | FHL1 | c.427T>A (p.Phe143Ile) c.379T>A (p.Phe127Ile) c.466T>A (p.Phe156Ile) n.83T>A n.429T>A n.790T>A | |
X | g.136207839T>C | CA414608390 | FHL1 | c.427T>C (p.Phe143Leu) c.379T>C (p.Phe127Leu) c.466T>C (p.Phe156Leu) n.83T>C n.429T>C n.790T>C | ClinVar dbSNP |
X | g.136207839T>G | CA414608391 | FHL1 | c.427T>G (p.Phe143Val) c.379T>G (p.Phe127Val) c.466T>G (p.Phe156Val) n.83T>G n.429T>G n.790T>G | |
X | g.136207839T= | CA2460259456 | FHL1 | c.427T= (p.Phe143=) c.379T= (p.Phe127=) c.466T= (p.Phe156=) n.83T= n.429T= n.790T= | |
X | g.136207840T>A | CA414608392 | FHL1 | c.428T>A (p.Phe143Tyr) c.380T>A (p.Phe127Tyr) c.467T>A (p.Phe156Tyr) n.84T>A n.430T>A n.791T>A | |
X | g.136207840T>C | CA414608393 | FHL1 | c.428T>C (p.Phe143Ser) c.380T>C (p.Phe127Ser) c.467T>C (p.Phe156Ser) n.84T>C n.430T>C n.791T>C | |
X | g.136207840T>G | CA414608394 | FHL1 | c.428T>G (p.Phe143Cys) c.380T>G (p.Phe127Cys) c.467T>G (p.Phe156Cys) n.84T>G n.430T>G n.791T>G | |
X | g.136207840_136207842dup | CA913184928 | FHL1 | c.428_430dup (p.Phe143_Thr144insIle) c.380_382dup (p.Phe127_Thr128insIle) c.467_469dup (p.Phe156_Thr157insIle) n.84_86dup n.430_432dup n.791_793dup | ClinVar dbSNP gnomAD v4 |
X | g.136207841C>A | CA414608395 | FHL1 | c.429C>A (p.Phe143Leu) c.381C>A (p.Phe127Leu) c.468C>A (p.Phe156Leu) n.85C>A n.431C>A n.792C>A | |
X | g.136207841C>G | CA414608396 | FHL1 | c.429C>G (p.Phe143Leu) c.381C>G (p.Phe127Leu) c.468C>G (p.Phe156Leu) n.85C>G n.431C>G n.792C>G | |
X | g.136207841C>T | CA518489290 | FHL1 | c.429C>T (p.Phe143=) c.381C>T (p.Phe127=) c.468C>T (p.Phe156=) n.85C>T n.431C>T n.792C>T | ClinVar |
X | g.136207842A>C | CA414608397 | FHL1 | c.430A>C (p.Thr144Pro) c.382A>C (p.Thr128Pro) c.469A>C (p.Thr157Pro) n.86A>C n.432A>C n.793A>C | |
X | g.136207842A>G | CA414608398 | FHL1 | c.430A>G (p.Thr144Ala) c.382A>G (p.Thr128Ala) c.469A>G (p.Thr157Ala) n.86A>G n.432A>G n.793A>G | |
X | g.136207842A>T | CA414608399 | FHL1 | c.430A>T (p.Thr144Ser) c.382A>T (p.Thr128Ser) c.469A>T (p.Thr157Ser) n.86A>T n.432A>T n.793A>T | |
X | g.136207843C>A | CA414608402 | FHL1 | c.431C>A (p.Thr144Asn) c.383C>A (p.Thr128Asn) c.470C>A (p.Thr157Asn) n.87C>A n.433C>A n.794C>A | |
X | g.136207843C>G | CA414608401 | FHL1 | c.431C>G (p.Thr144Ser) c.383C>G (p.Thr128Ser) c.470C>G (p.Thr157Ser) n.87C>G n.433C>G n.794C>G | |
X | g.136207843C>T | CA414608400 | FHL1 | c.431C>T (p.Thr144Ile) c.383C>T (p.Thr128Ile) c.470C>T (p.Thr157Ile) n.87C>T n.433C>T n.794C>T | gnomAD v4 |
X | g.136207844C>A | CA518489293 | FHL1 | c.432C>A (p.Thr144=) c.384C>A (p.Thr128=) c.471C>A (p.Thr157=) n.88C>A n.434C>A n.795C>A | COSMIC COSMIC COSMIC COSMIC |
X | g.136207844C= | CA2460259457 | FHL1 | c.432C= (p.Thr144=) c.384C= (p.Thr128=) c.471C= (p.Thr157=) n.88C= n.434C= n.795C= | |
X | g.136207844C>G | CA518489291 | FHL1 | c.432C>G (p.Thr144=) c.384C>G (p.Thr128=) c.471C>G (p.Thr157=) n.88C>G n.434C>G n.795C>G | ClinVar dbSNP gnomAD v4 |
X | g.136207844C>T | CA518489292 | FHL1 | c.432C>T (p.Thr144=) c.384C>T (p.Thr128=) c.471C>T (p.Thr157=) n.88C>T n.434C>T n.795C>T | ClinVar dbSNP gnomAD v4 |
X | g.136207845T>A | CA414608403 | FHL1 | c.433T>A (p.Cys145Ser) c.385T>A (p.Cys129Ser) c.472T>A (p.Cys158Ser) n.89T>A n.435T>A n.796T>A | |
X | g.136207845T>C | CA414608405 | FHL1 | c.433T>C (p.Cys145Arg) c.385T>C (p.Cys129Arg) c.472T>C (p.Cys158Arg) n.89T>C n.435T>C n.796T>C | |
X | g.136207845T>G | CA414608404 | FHL1 | c.433T>G (p.Cys145Gly) c.385T>G (p.Cys129Gly) c.472T>G (p.Cys158Gly) n.89T>G n.435T>G n.796T>G | |
X | g.136207846G>A | CA414608406 | FHL1 | c.434G>A (p.Cys145Tyr) c.386G>A (p.Cys129Tyr) c.473G>A (p.Cys158Tyr) n.90G>A n.436G>A n.797G>A | |
X | g.136207846G>C | CA414608407 | FHL1 | c.434G>C (p.Cys145Ser) c.386G>C (p.Cys129Ser) c.473G>C (p.Cys158Ser) n.90G>C n.436G>C n.797G>C | |
X | g.136207846G>T | CA414608408 | FHL1 | c.434G>T (p.Cys145Phe) c.386G>T (p.Cys129Phe) c.473G>T (p.Cys158Phe) n.90G>T n.436G>T n.797G>T | |
X | g.136207847T>A | CA414608409 | FHL1 | c.435T>A (p.Cys145Ter) c.387T>A (p.Cys129Ter) c.474T>A (p.Cys158Ter) n.91T>A n.437T>A n.798T>A | |
X | g.136207847T>C | CA518489295 | FHL1 | c.435T>C (p.Cys145=) c.387T>C (p.Cys129=) c.474T>C (p.Cys158=) n.91T>C n.437T>C n.798T>C | |
X | g.136207847T>G | CA414608410 | FHL1 | c.435T>G (p.Cys145Trp) c.387T>G (p.Cys129Trp) c.474T>G (p.Cys158Trp) n.91T>G n.437T>G n.798T>G |