Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.129250183A>C | CA365609620 | LAMA2 | c.1854A>C (p.Glu618Asp) c.1860A>C (p.Glu620Asp) c.-16A>C (n.-16A>C) | |
6 | g.129250183A>G | CA451936420 | LAMA2 | c.1854A>G (p.Glu618=) c.1860A>G (p.Glu620=) c.-16A>G (n.-16A>G) | gnomAD v4 |
6 | g.129250183A>T | CA365609619 | LAMA2 | c.1854A>T (p.Glu618Asp) c.1860A>T (p.Glu620Asp) c.-16A>T (n.-16A>T) | |
6 | g.129250184_129250185insATGTTCAC | CA274989 | LAMA2 | c.1855_1856insATGTTCAC (p.Arg619HisfsTer9) c.1861_1862insATGTTCAC (p.Arg621HisfsTer9) c.-15_-14insATGTTCAC (n.-15_-14insATGTTCAC) | ClinVar dbSNP |
6 | g.129250183_129250190dup | CA342966 | LAMA2 | c.1854_1861dup (p.Leu621HisfsTer7) c.1860_1867dup (p.Leu623HisfsTer7) c.-16_-9dup (n.-16_-9dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129250184C>A | CA365609621 | LAMA2 | c.1855C>A (p.Arg619Ser) c.1861C>A (p.Arg621Ser) c.-15C>A (n.-15C>A) | ClinVar dbSNP gnomAD v4 |
6 | g.129250184C= | CA1663060472 | LAMA2 | c.1855C= (p.Arg619=) c.1861C= (p.Arg621=) c.-15C= (n.-15C=) | |
6 | g.129250184C>G | CA365609622 | LAMA2 | c.1855C>G (p.Arg619Gly) c.1861C>G (p.Arg621Gly) c.-15C>G (n.-15C>G) | |
6 | g.129250184C>T | CA3992758 | LAMA2 | c.1855C>T (p.Arg619Cys) c.1861C>T (p.Arg621Cys) c.-15C>T (n.-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129250185G>A | CA146105 | LAMA2 | c.1856G>A (p.Arg619His) c.1862G>A (p.Arg621His) c.-14G>A (n.-14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129250185G>C | CA365609623 | LAMA2 | c.1856G>C (p.Arg619Pro) c.1862G>C (p.Arg621Pro) c.-14G>C (n.-14G>C) | |
6 | g.129250185G= | CA1663060475 | LAMA2 | c.1856G= (p.Arg619=) c.1862G= (p.Arg621=) c.-14G= (n.-14G=) | |
6 | g.129250185G>T | CA365609624 | LAMA2 | c.1856G>T (p.Arg619Leu) c.1862G>T (p.Arg621Leu) c.-14G>T (n.-14G>T) | |
6 | g.129250186T>A | CA451936426 | LAMA2 | c.1857T>A (p.Arg619=) c.1863T>A (p.Arg621=) c.-13T>A (n.-13T>A) | |
6 | g.129250186T>C | CA451936424 | LAMA2 | c.1857T>C (p.Arg619=) c.1863T>C (p.Arg621=) c.-13T>C (n.-13T>C) | dbSNP gnomAD v4 |
6 | g.129250186T>G | CA451936425 | LAMA2 | c.1857T>G (p.Arg619=) c.1863T>G (p.Arg621=) c.-13T>G (n.-13T>G) | |
6 | g.129250186T= | CA1663060480 | LAMA2 | c.1857T= (p.Arg619=) c.1863T= (p.Arg621=) c.-13T= (n.-13T=) | |
6 | g.129250187G>A | CA365609625 | LAMA2 | c.1858G>A (p.Val620Ile) c.1864G>A (p.Val622Ile) c.-12G>A (n.-12G>A) | ClinVar dbSNP gnomAD v4 |
6 | g.129250187G>C | CA365609626 | LAMA2 | c.1858G>C (p.Val620Leu) c.1864G>C (p.Val622Leu) c.-12G>C (n.-12G>C) | |
6 | g.129250187G>T | CA365609627 | LAMA2 | c.1858G>T (p.Val620Phe) c.1864G>T (p.Val622Phe) c.-12G>T (n.-12G>T) | |
6 | g.129250188T>A | CA365609628 | LAMA2 | c.1859T>A (p.Val620Asp) c.1865T>A (p.Val622Asp) c.-11T>A (n.-11T>A) | gnomAD v4 |
6 | g.129250188T>C | CA365609629 | LAMA2 | c.1859T>C (p.Val620Ala) c.1865T>C (p.Val622Ala) c.-11T>C (n.-11T>C) | |
6 | g.129250188T>G | CA365609630 | LAMA2 | c.1859T>G (p.Val620Gly) c.1865T>G (p.Val622Gly) c.-11T>G (n.-11T>G) | |
6 | g.129250189T>A | CA451936428 | LAMA2 | c.1860T>A (p.Val620=) c.1866T>A (p.Val622=) c.-10T>A (n.-10T>A) | |
6 | g.129250189T>C | CA451936430 | LAMA2 | c.1860T>C (p.Val620=) c.1866T>C (p.Val622=) c.-10T>C (n.-10T>C) | |
6 | g.129250189T>G | CA451936431 | LAMA2 | c.1860T>G (p.Val620=) c.1866T>G (p.Val622=) c.-10T>G (n.-10T>G) | |
6 | g.129250190C>A | CA365609631 | LAMA2 | c.1861C>A (p.Leu621Ile) c.1867C>A (p.Leu623Ile) c.-9C>A (n.-9C>A) | gnomAD v4 |
6 | g.129250190C= | CA1663060483 | LAMA2 | c.1861C= (p.Leu621=) c.1867C= (p.Leu623=) c.-9C= (n.-9C=) | |
6 | g.129250190C>G | CA365609632 | LAMA2 | c.1861C>G (p.Leu621Val) c.1867C>G (p.Leu623Val) c.-9C>G (n.-9C>G) | gnomAD v4 |
6 | g.129250190C>T | CA3992759 | LAMA2 | c.1861C>T (p.Leu621Phe) c.1867C>T (p.Leu623Phe) c.-9C>T (n.-9C>T) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.129250191T>A | CA365609634 | LAMA2 | c.1862T>A (p.Leu621His) c.1868T>A (p.Leu623His) c.-8T>A (n.-8T>A) | |
6 | g.129250191T>C | CA365609633 | LAMA2 | c.1862T>C (p.Leu621Pro) c.1868T>C (p.Leu623Pro) c.-8T>C (n.-8T>C) | |
6 | g.129250191T>G | CA365609635 | LAMA2 | c.1862T>G (p.Leu621Arg) c.1868T>G (p.Leu623Arg) c.-8T>G (n.-8T>G) | |
6 | g.129250192C>A | CA3992760 | LAMA2 | c.1863C>A (p.Leu621=) c.1869C>A (p.Leu623=) c.-7C>A (n.-7C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.129250192C= | CA1663060488 | LAMA2 | c.1863C= (p.Leu621=) c.1869C= (p.Leu623=) c.-7C= (n.-7C=) | |
6 | g.129250192C>G | CA451936435 | LAMA2 | c.1863C>G (p.Leu621=) c.1869C>G (p.Leu623=) c.-7C>G (n.-7C>G) | |
6 | g.129250192C>T | CA451936436 | LAMA2 | c.1863C>T (p.Leu621=) c.1869C>T (p.Leu623=) c.-7C>T (n.-7C>T) | ClinVar dbSNP gnomAD v4 |
6 | g.129250193C>A | CA146918274 | LAMA2 | c.1864C>A (p.Gln622Lys) c.1870C>A (p.Gln624Lys) c.-6C>A (n.-6C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.129250193C= | CA1663060493 | LAMA2 | c.1864C= (p.Gln622=) c.1870C= (p.Gln624=) c.-6C= (n.-6C=) | |
6 | g.129250193C>G | CA365609636 | LAMA2 | c.1864C>G (p.Gln622Glu) c.1870C>G (p.Gln624Glu) c.-6C>G (n.-6C>G) | |
6 | g.129250193C>T | CA365609637 | LAMA2 | c.1864C>T (p.Gln622Ter) c.1870C>T (p.Gln624Ter) c.-6C>T (n.-6C>T) | gnomAD v4 |
6 | g.129250194A>C | CA365609638 | LAMA2 | c.1865A>C (p.Gln622Pro) c.1871A>C (p.Gln624Pro) c.-5A>C (n.-5A>C) | |
6 | g.129250194A>G | CA365609639 | LAMA2 | c.1865A>G (p.Gln622Arg) c.1871A>G (p.Gln624Arg) c.-5A>G (n.-5A>G) | gnomAD v4 |
6 | g.129250194A>T | CA365609640 | LAMA2 | c.1865A>T (p.Gln622Leu) c.1871A>T (p.Gln624Leu) c.-5A>T (n.-5A>T) | |
6 | g.129250195G>A | CA451936437 | LAMA2 | c.1866G>A (p.Gln622=) c.1872G>A (p.Gln624=) c.-4G>A (n.-4G>A) | dbSNP |
6 | g.129250195G>C | CA365609641 | LAMA2 | c.1866G>C (p.Gln622His) c.1872G>C (p.Gln624His) c.-4G>C (n.-4G>C) | |
6 | g.129250195G= | CA1663060497 | LAMA2 | c.1866G= (p.Gln622=) c.1872G= (p.Gln624=) c.-4G= (n.-4G=) | |
6 | g.129250195G>T | CA365609642 | LAMA2 | c.1866G>T (p.Gln622His) c.1872G>T (p.Gln624His) c.-4G>T (n.-4G>T) | |
6 | g.129250196C>A | CA365609643 | LAMA2 | c.1867C>A (p.Leu623Ile) c.1873C>A (p.Leu625Ile) c.-3C>A (n.-3C>A) | gnomAD v4 |
6 | g.129250196C= | CA1663060500 | LAMA2 | c.1867C= (p.Leu623=) c.1873C= (p.Leu625=) c.-3C= (n.-3C=) |