Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.159692617_159692631del | CA2773769782 | SOD2 | c.226+31_226+45del (n.226+31_226+45del) c.88+31_88+45del (n.88+31_88+45del) c.257_271del (p.Val86_Gly90del) c.295+31_295+45del (n.295+31_295+45del) n.21_35del | |
6 | g.159692620_159692625dup | CA2518676424 | SOD2 | c.226+39_226+44dup (n.226+39_226+44dup) c.88+39_88+44dup (n.88+39_88+44dup) c.265_270dup (p.Gly90_Asp91insArgGly) c.295+39_295+44dup (n.295+39_295+44dup) n.29_34dup | |
6 | g.159692622T>A | CA366295664 | SOD2 | c.226+39A>T (n.226+39A>T) c.88+39A>T (n.88+39A>T) c.265A>T (p.Arg89Ter) c.295+39A>T (n.295+39A>T) n.29A>T | |
6 | g.159692622T>C | CA366295666 | SOD2 | c.226+39A>G (n.226+39A>G) c.88+39A>G (n.88+39A>G) c.265A>G (p.Arg89Gly) c.295+39A>G (n.295+39A>G) n.29A>G | |
6 | g.159692622T>G | CA4078368 | SOD2 | c.226+39A>C (n.226+39A>C) c.88+39A>C (n.88+39A>C) c.265A>C (p.Arg89=) c.295+39A>C (n.295+39A>C) n.29A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692622T= | CA1676708742 | SOD2 | c.226+39A= (n.226+39A=) c.88+39A= (n.88+39A=) c.265A= (p.Arg89=) c.295+39A= (n.295+39A=) n.29A= | |
6 | g.159692622dup | CA4078367 | SOD2 | c.226+39dup (n.226+39dup) c.88+39dup (n.88+39dup) c.265dup (p.Arg89LysfsTer?) c.295+39dup (n.295+39dup) n.29dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692623G>A | CA151086629 | SOD2 | c.226+38C>T (n.226+38C>T) c.88+38C>T (n.88+38C>T) c.264C>T (p.Gly88=) c.295+38C>T (n.295+38C>T) n.28C>T | dbSNP gnomAD v4 |
6 | g.159692623G= | CA1676708743 | SOD2 | c.226+38C= (n.226+38C=) c.88+38C= (n.88+38C=) c.264C= (p.Gly88=) c.295+38C= (n.295+38C=) n.28C= | |
6 | g.159692624C>A | CA366295669 | SOD2 | c.226+37G>T (n.226+37G>T) c.88+37G>T (n.88+37G>T) c.263G>T (p.Gly88Val) c.295+37G>T (n.295+37G>T) n.27G>T | gnomAD v4 |
6 | g.159692624C= | CA1676708744 | SOD2 | c.226+37G= (n.226+37G=) c.88+37G= (n.88+37G=) c.263G= (p.Gly88=) c.295+37G= (n.295+37G=) n.27G= | |
6 | g.159692624C>G | CA366295670 | SOD2 | c.226+37G>C (n.226+37G>C) c.88+37G>C (n.88+37G>C) c.263G>C (p.Gly88Ala) c.295+37G>C (n.295+37G>C) n.27G>C | |
6 | g.159692624C>T | CA151086632 | SOD2 | c.226+37G>A (n.226+37G>A) c.88+37G>A (n.88+37G>A) c.263G>A (p.Gly88Asp) c.295+37G>A (n.295+37G>A) n.27G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692625C>A | CA366295673 | SOD2 | c.226+36G>T (n.226+36G>T) c.88+36G>T (n.88+36G>T) c.262G>T (p.Gly88Cys) c.295+36G>T (n.295+36G>T) n.26G>T | |
6 | g.159692625C= | CA1676708745 | SOD2 | c.226+36G= (n.226+36G=) c.88+36G= (n.88+36G=) c.262G= (p.Gly88=) c.295+36G= (n.295+36G=) n.26G= | |
6 | g.159692625C>G | CA366295675 | SOD2 | c.226+36G>C (n.226+36G>C) c.88+36G>C (n.88+36G>C) c.262G>C (p.Gly88Arg) c.295+36G>C (n.295+36G>C) n.26G>C | |
6 | g.159692625C>T | CA366295676 | SOD2 | c.226+36G>A (n.226+36G>A) c.88+36G>A (n.88+36G>A) c.262G>A (p.Gly88Ser) c.295+36G>A (n.295+36G>A) n.26G>A | dbSNP |
6 | g.159692626G>A | CA2680994532 | SOD2 | c.226+35C>T (n.226+35C>T) c.88+35C>T (n.88+35C>T) c.261C>T (p.Pro87=) c.295+35C>T (n.295+35C>T) n.25C>T | dbSNP gnomAD v4 |
6 | g.159692626G>C | CA571905148 | SOD2 | c.226+35C>G (n.226+35C>G) c.88+35C>G (n.88+35C>G) c.261C>G (p.Pro87=) c.295+35C>G (n.295+35C>G) n.25C>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692626G= | CA1676708746 | SOD2 | c.226+35C= (n.226+35C=) c.88+35C= (n.88+35C=) c.261C= (p.Pro87=) c.295+35C= (n.295+35C=) n.25C= | |
6 | g.159692626G>T | CA2680994533 | SOD2 | c.226+35C>A (n.226+35C>A) c.88+35C>A (n.88+35C>A) c.261C>A (p.Pro87=) c.295+35C>A (n.295+35C>A) n.25C>A | gnomAD v4 |
6 | g.159692629del | CA2680994531 | SOD2 | c.226+35del (n.226+35del) c.88+35del (n.88+35del) c.261del (p.Gly88AlafsTer?) c.295+35del (n.295+35del) n.25del | gnomAD v4 |
6 | g.159692627G>A | CA366295680 | SOD2 | c.226+34C>T (n.226+34C>T) c.88+34C>T (n.88+34C>T) c.260C>T (p.Pro87Leu) c.295+34C>T (n.295+34C>T) n.24C>T | |
6 | g.159692627G>C | CA366295678 | SOD2 | c.226+34C>G (n.226+34C>G) c.88+34C>G (n.88+34C>G) c.260C>G (p.Pro87Arg) c.295+34C>G (n.295+34C>G) n.24C>G | dbSNP |
6 | g.159692627G= | CA1676708747 | SOD2 | c.226+34C= (n.226+34C=) c.88+34C= (n.88+34C=) c.260C= (p.Pro87=) c.295+34C= (n.295+34C=) n.24C= | |
6 | g.159692627G>T | CA151086636 | SOD2 | c.226+34C>A (n.226+34C>A) c.88+34C>A (n.88+34C>A) c.260C>A (p.Pro87His) c.295+34C>A (n.295+34C>A) n.24C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692628G>A | CA366295685 | SOD2 | c.226+33C>T (n.226+33C>T) c.88+33C>T (n.88+33C>T) c.259C>T (p.Pro87Ser) c.295+33C>T (n.295+33C>T) n.23C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692628G>C | CA366295682 | SOD2 | c.226+33C>G (n.226+33C>G) c.88+33C>G (n.88+33C>G) c.259C>G (p.Pro87Ala) c.295+33C>G (n.295+33C>G) n.23C>G | |
6 | g.159692628G= | CA1676708748 | SOD2 | c.226+33C= (n.226+33C=) c.88+33C= (n.88+33C=) c.259C= (p.Pro87=) c.295+33C= (n.295+33C=) n.23C= | |
6 | g.159692628G>T | CA366295683 | SOD2 | c.226+33C>A (n.226+33C>A) c.88+33C>A (n.88+33C>A) c.259C>A (p.Pro87Thr) c.295+33C>A (n.295+33C>A) n.23C>A | |
6 | g.159692629G>A | CA821561530 | SOD2 | c.226+32C>T (n.226+32C>T) c.88+32C>T (n.88+32C>T) c.258C>T (p.Val86=) c.295+32C>T (n.295+32C>T) n.22C>T | dbSNP gnomAD v4 |
6 | g.159692629G>C | CA2680994534 | SOD2 | c.226+32C>G (n.226+32C>G) c.88+32C>G (n.88+32C>G) c.258C>G (p.Val86=) c.295+32C>G (n.295+32C>G) n.22C>G | gnomAD v4 |
6 | g.159692629G= | CA1676708749 | SOD2 | c.226+32C= (n.226+32C=) c.88+32C= (n.88+32C=) c.258C= (p.Val86=) c.295+32C= (n.295+32C=) n.22C= | |
6 | g.159692629G>T | CA151086644 | SOD2 | c.226+32C>A (n.226+32C>A) c.88+32C>A (n.88+32C>A) c.258C>A (p.Val86=) c.295+32C>A (n.295+32C>A) n.22C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692630del | CA2680994535 | SOD2 | c.226+31del (n.226+31del) c.88+31del (n.88+31del) c.257del (p.Val86AlafsTer?) c.295+31del (n.295+31del) n.21del | gnomAD v4 |
6 | g.159692630A= | CA1676708750 | SOD2 | c.226+31T= (n.226+31T=) c.88+31T= (n.88+31T=) c.257T= (p.Val86=) c.295+31T= (n.295+31T=) n.21T= | |
6 | g.159692630A>C | CA366295687 | SOD2 | c.226+31T>G (n.226+31T>G) c.88+31T>G (n.88+31T>G) c.257T>G (p.Val86Gly) c.295+31T>G (n.295+31T>G) n.21T>G | |
6 | g.159692630A>G | CA366295689 | SOD2 | c.226+31T>C (n.226+31T>C) c.88+31T>C (n.88+31T>C) c.257T>C (p.Val86Ala) c.295+31T>C (n.295+31T>C) n.21T>C | |
6 | g.159692630A>T | CA4078369 | SOD2 | c.226+31T>A (n.226+31T>A) c.88+31T>A (n.88+31T>A) c.257T>A (p.Val86Asp) c.295+31T>A (n.295+31T>A) n.21T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692631C>A | CA366295696 | SOD2 | c.226+30G>T (n.226+30G>T) c.88+30G>T (n.88+30G>T) c.256G>T (p.Val86Phe) c.295+30G>T (n.295+30G>T) n.20G>T | |
6 | g.159692631C>G | CA366295695 | SOD2 | c.226+30G>C (n.226+30G>C) c.88+30G>C (n.88+30G>C) c.256G>C (p.Val86Leu) c.295+30G>C (n.295+30G>C) n.20G>C | |
6 | g.159692631C>T | CA366295692 | SOD2 | c.226+30G>A (n.226+30G>A) c.88+30G>A (n.88+30G>A) c.256G>A (p.Val86Ile) c.295+30G>A (n.295+30G>A) n.20G>A | |
6 | g.159692632T>C | CA2713605357 | SOD2 | c.226+29A>G (n.226+29A>G) c.88+29A>G (n.88+29A>G) c.255A>G (p.Ala85=) c.295+29A>G (n.295+29A>G) n.19A>G | dbSNP |
6 | g.159692633G>A | CA366295699 | SOD2 | c.226+28C>T (n.226+28C>T) c.88+28C>T (n.88+28C>T) c.254C>T (p.Ala85Val) c.295+28C>T (n.295+28C>T) n.18C>T | |
6 | g.159692633G>C | CA366295701 | SOD2 | c.226+28C>G (n.226+28C>G) c.88+28C>G (n.88+28C>G) c.254C>G (p.Ala85Gly) c.295+28C>G (n.295+28C>G) n.18C>G | dbSNP |
6 | g.159692633G= | CA1676708751 | SOD2 | c.226+28C= (n.226+28C=) c.88+28C= (n.88+28C=) c.254C= (p.Ala85=) c.295+28C= (n.295+28C=) n.18C= | |
6 | g.159692633G>T | CA366295702 | SOD2 | c.226+28C>A (n.226+28C>A) c.88+28C>A (n.88+28C>A) c.254C>A (p.Ala85Glu) c.295+28C>A (n.295+28C>A) n.18C>A | |
6 | g.159692634C>A | CA366295705 | SOD2 | c.226+27G>T (n.226+27G>T) c.88+27G>T (n.88+27G>T) c.253G>T (p.Ala85Ser) c.295+27G>T (n.295+27G>T) n.17G>T | |
6 | g.159692634C>G | CA366295707 | SOD2 | c.226+27G>C (n.226+27G>C) c.88+27G>C (n.88+27G>C) c.253G>C (p.Ala85Pro) c.295+27G>C (n.295+27G>C) n.17G>C | |
6 | g.159692634C>T | CA366295708 | SOD2 | c.226+27G>A (n.226+27G>A) c.88+27G>A (n.88+27G>A) c.253G>A (p.Ala85Thr) c.295+27G>A (n.295+27G>A) n.17G>A | gnomAD v4 |
6 | g.159692635C>A | CA366295710 | SOD2 | c.226+26G>T (n.226+26G>T) c.88+26G>T (n.88+26G>T) c.252G>T (p.Glu84Asp) c.295+26G>T (n.295+26G>T) n.16G>T | |
6 | g.159692635C= | CA1676708752 | SOD2 | c.226+26G= (n.226+26G=) c.88+26G= (n.88+26G=) c.252G= (p.Glu84=) c.295+26G= (n.295+26G=) n.16G= | |
6 | g.159692635C>G | CA366295714 | SOD2 | c.226+26G>C (n.226+26G>C) c.88+26G>C (n.88+26G>C) c.252G>C (p.Glu84Asp) c.295+26G>C (n.295+26G>C) n.16G>C | |
6 | g.159692635C>T | CA4078370 | SOD2 | c.226+26G>A (n.226+26G>A) c.88+26G>A (n.88+26G>A) c.252G>A (p.Glu84=) c.295+26G>A (n.295+26G>A) n.16G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692636T>A | CA366295717 | SOD2 | c.226+25A>T (n.226+25A>T) c.88+25A>T (n.88+25A>T) c.251A>T (p.Glu84Val) c.295+25A>T (n.295+25A>T) n.15A>T | |
6 | g.159692636T>C | CA366295719 | SOD2 | c.226+25A>G (n.226+25A>G) c.88+25A>G (n.88+25A>G) c.251A>G (p.Glu84Gly) c.295+25A>G (n.295+25A>G) n.15A>G | dbSNP |
6 | g.159692636T>G | CA366295720 | SOD2 | c.226+25A>C (n.226+25A>C) c.88+25A>C (n.88+25A>C) c.251A>C (p.Glu84Ala) c.295+25A>C (n.295+25A>C) n.15A>C | |
6 | g.159692636T= | CA1676708753 | SOD2 | c.226+25A= (n.226+25A=) c.88+25A= (n.88+25A=) c.251A= (p.Glu84=) c.295+25A= (n.295+25A=) n.15A= | |
6 | g.159692637C>A | CA366295723 | SOD2 | c.226+24G>T (n.226+24G>T) c.88+24G>T (n.88+24G>T) c.250G>T (p.Glu84Ter) c.295+24G>T (n.295+24G>T) n.14G>T | |
6 | g.159692637C>G | CA366295725 | SOD2 | c.226+24G>C (n.226+24G>C) c.88+24G>C (n.88+24G>C) c.250G>C (p.Glu84Gln) c.295+24G>C (n.295+24G>C) n.14G>C | |
6 | g.159692637C>T | CA366295726 | SOD2 | c.226+24G>A (n.226+24G>A) c.88+24G>A (n.88+24G>A) c.250G>A (p.Glu84Lys) c.295+24G>A (n.295+24G>A) n.14G>A | dbSNP |
6 | g.159692639C>A | CA4078371 | SOD2 | c.226+22G>T (n.226+22G>T) c.88+22G>T (n.88+22G>T) c.248G>T (p.Arg83Leu) c.295+22G>T (n.295+22G>T) n.12G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692639C= | CA1676708754 | SOD2 | c.226+22G= (n.226+22G=) c.88+22G= (n.88+22G=) c.248G= (p.Arg83=) c.295+22G= (n.295+22G=) n.12G= | |
6 | g.159692639C>G | CA366295729 | SOD2 | c.226+22G>C (n.226+22G>C) c.88+22G>C (n.88+22G>C) c.248G>C (p.Arg83Pro) c.295+22G>C (n.295+22G>C) n.12G>C | |
6 | g.159692639C>T | CA366295730 | SOD2 | c.226+22G>A (n.226+22G>A) c.88+22G>A (n.88+22G>A) c.248G>A (p.Arg83Gln) c.295+22G>A (n.295+22G>A) n.12G>A | |
6 | g.159692640G>A | CA4078372 | SOD2 | c.226+21C>T (n.226+21C>T) c.88+21C>T (n.88+21C>T) c.247C>T (p.Arg83Trp) c.295+21C>T (n.295+21C>T) n.11C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692640G>C | CA366295732 | SOD2 | c.226+21C>G (n.226+21C>G) c.88+21C>G (n.88+21C>G) c.247C>G (p.Arg83Gly) c.295+21C>G (n.295+21C>G) n.11C>G | |
6 | g.159692640G= | CA1676708755 | SOD2 | c.226+21C= (n.226+21C=) c.88+21C= (n.88+21C=) c.247C= (p.Arg83=) c.295+21C= (n.295+21C=) n.11C= | |
6 | g.159692642C>A | CA366295735 | SOD2 | c.226+19G>T (n.226+19G>T) c.88+19G>T (n.88+19G>T) c.245G>T (p.Arg82Leu) c.295+19G>T (n.295+19G>T) n.9G>T | |
6 | g.159692642C= | CA1676708756 | SOD2 | c.226+19G= (n.226+19G=) c.88+19G= (n.88+19G=) c.245G= (p.Arg82=) c.295+19G= (n.295+19G=) n.9G= | |
6 | g.159692642C>G | CA366295737 | SOD2 | c.226+19G>C (n.226+19G>C) c.88+19G>C (n.88+19G>C) c.245G>C (p.Arg82Pro) c.295+19G>C (n.295+19G>C) n.9G>C | |
6 | g.159692642C>T | CA366295733 | SOD2 | c.226+19G>A (n.226+19G>A) c.88+19G>A (n.88+19G>A) c.245G>A (p.Arg82Gln) c.295+19G>A (n.295+19G>A) n.9G>A | dbSNP gnomAD v4 |
6 | g.159692643G>A | CA4078373 | SOD2 | c.226+18C>T (n.226+18C>T) c.88+18C>T (n.88+18C>T) c.244C>T (p.Arg82Trp) c.295+18C>T (n.295+18C>T) n.8C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692643G>C | CA366295740 | SOD2 | c.226+18C>G (n.226+18C>G) c.88+18C>G (n.88+18C>G) c.244C>G (p.Arg82Gly) c.295+18C>G (n.295+18C>G) n.8C>G | |
6 | g.159692643G= | CA1676708757 | SOD2 | c.226+18C= (n.226+18C=) c.88+18C= (n.88+18C=) c.244C= (p.Arg82=) c.295+18C= (n.295+18C=) n.8C= | |
6 | g.159692644C>A | CA366295742 | SOD2 | c.226+17G>T (n.226+17G>T) c.88+17G>T (n.88+17G>T) c.243G>T (p.Glu81Asp) c.295+17G>T (n.295+17G>T) n.7G>T | |
6 | g.159692644C= | CA1676708758 | SOD2 | c.226+17G= (n.226+17G=) c.88+17G= (n.88+17G=) c.243G= (p.Glu81=) c.295+17G= (n.295+17G=) n.7G= | |
6 | g.159692644C>G | CA366295744 | SOD2 | c.226+17G>C (n.226+17G>C) c.88+17G>C (n.88+17G>C) c.243G>C (p.Glu81Asp) c.295+17G>C (n.295+17G>C) n.7G>C | |
6 | g.159692644C>T | CA4078374 | SOD2 | c.226+17G>A (n.226+17G>A) c.88+17G>A (n.88+17G>A) c.243G>A (p.Glu81=) c.295+17G>A (n.295+17G>A) n.7G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692645T>A | CA366295747 | SOD2 | c.226+16A>T (n.226+16A>T) c.88+16A>T (n.88+16A>T) c.242A>T (p.Glu81Val) c.295+16A>T (n.295+16A>T) n.6A>T | dbSNP gnomAD v4 |
6 | g.159692645T>C | CA366295749 | SOD2 | c.226+16A>G (n.226+16A>G) c.88+16A>G (n.88+16A>G) c.242A>G (p.Glu81Gly) c.295+16A>G (n.295+16A>G) n.6A>G | |
6 | g.159692645T>G | CA366295751 | SOD2 | c.226+16A>C (n.226+16A>C) c.88+16A>C (n.88+16A>C) c.242A>C (p.Glu81Ala) c.295+16A>C (n.295+16A>C) n.6A>C | |
6 | g.159692645T= | CA1676708759 | SOD2 | c.226+16A= (n.226+16A=) c.88+16A= (n.88+16A=) c.242A= (p.Glu81=) c.295+16A= (n.295+16A=) n.6A= | |
6 | g.159692646C>A | CA366295753 | SOD2 | c.226+15G>T (n.226+15G>T) c.88+15G>T (n.88+15G>T) c.241G>T (p.Glu81Ter) c.295+15G>T (n.295+15G>T) n.5G>T | |
6 | g.159692646C>G | CA366295755 | SOD2 | c.226+15G>C (n.226+15G>C) c.88+15G>C (n.88+15G>C) c.241G>C (p.Glu81Gln) c.295+15G>C (n.295+15G>C) n.5G>C | |
6 | g.159692646C>T | CA366295757 | SOD2 | c.226+15G>A (n.226+15G>A) c.88+15G>A (n.88+15G>A) c.241G>A (p.Glu81Lys) c.295+15G>A (n.295+15G>A) n.5G>A | |
6 | g.159692647A= | CA1676708760 | SOD2 | c.226+14T= (n.226+14T=) c.88+14T= (n.88+14T=) c.240T= (p.Ala80=) c.295+14T= (n.295+14T=) n.4T= | |
6 | g.159692647A>G | CA4078375 | SOD2 | c.226+14T>C (n.226+14T>C) c.88+14T>C (n.88+14T>C) c.240T>C (p.Ala80=) c.295+14T>C (n.295+14T>C) n.4T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692647A>T | CA2680994536 | SOD2 | c.226+14T>A (n.226+14T>A) c.88+14T>A (n.88+14T>A) c.240T>A (p.Ala80=) c.295+14T>A (n.295+14T>A) n.4T>A | gnomAD v4 |
6 | g.159692648G>A | CA366295762 | SOD2 | c.226+13C>T (n.226+13C>T) c.88+13C>T (n.88+13C>T) c.239C>T (p.Ala80Val) c.295+13C>T (n.295+13C>T) n.3C>T | gnomAD v4 |
6 | g.159692648G>C | CA366295763 | SOD2 | c.226+13C>G (n.226+13C>G) c.88+13C>G (n.88+13C>G) c.239C>G (p.Ala80Gly) c.295+13C>G (n.295+13C>G) n.3C>G | |
6 | g.159692648G>T | CA366295765 | SOD2 | c.226+13C>A (n.226+13C>A) c.88+13C>A (n.88+13C>A) c.239C>A (p.Ala80Asp) c.295+13C>A (n.295+13C>A) n.3C>A | |
6 | g.159692649_159692653del | CA2680994537 | SOD2 | c.226+9_226+13del (n.226+9_226+13del) c.88+9_88+13del (n.88+9_88+13del) c.235_239del (p.Gln79Ter) c.295+9_295+13del (n.295+9_295+13del) | gnomAD v4 |
6 | g.159692649C>A | CA366295768 | SOD2 | c.226+12G>T (n.226+12G>T) c.88+12G>T (n.88+12G>T) c.238G>T (p.Ala80Ser) c.295+12G>T (n.295+12G>T) n.2G>T | |
6 | g.159692649C>G | CA366295771 | SOD2 | c.226+12G>C (n.226+12G>C) c.88+12G>C (n.88+12G>C) c.238G>C (p.Ala80Pro) c.295+12G>C (n.295+12G>C) n.2G>C | |
6 | g.159692649C>T | CA366295769 | SOD2 | c.226+12G>A (n.226+12G>A) c.88+12G>A (n.88+12G>A) c.238G>A (p.Ala80Thr) c.295+12G>A (n.295+12G>A) n.2G>A | |
6 | g.159692650C>A | CA366295774 | SOD2 | c.226+11G>T (n.226+11G>T) c.88+11G>T (n.88+11G>T) c.237G>T (p.Gln79His) c.295+11G>T (n.295+11G>T) n.1G>T | |
6 | g.159692650C>G | CA366295775 | SOD2 | c.226+11G>C (n.226+11G>C) c.88+11G>C (n.88+11G>C) c.237G>C (p.Gln79His) c.295+11G>C (n.295+11G>C) n.1G>C | |
6 | g.159692650C>T | CA2680994538 | SOD2 | c.226+11G>A (n.226+11G>A) c.88+11G>A (n.88+11G>A) c.237G>A (p.Gln79=) c.295+11G>A (n.295+11G>A) n.1G>A | gnomAD v4 |
6 | g.159692651T>A | CA366295777 | SOD2 | c.226+10A>T (n.226+10A>T) c.88+10A>T (n.88+10A>T) c.236A>T (p.Gln79Leu) c.295+10A>T (n.295+10A>T) | |
6 | g.159692651T>C | CA366295778 | SOD2 | c.226+10A>G (n.226+10A>G) c.88+10A>G (n.88+10A>G) c.236A>G (p.Gln79Arg) c.295+10A>G (n.295+10A>G) | |
6 | g.159692651T>G | CA366295779 | SOD2 | c.226+10A>C (n.226+10A>C) c.88+10A>C (n.88+10A>C) c.236A>C (p.Gln79Pro) c.295+10A>C (n.295+10A>C) | gnomAD v4 |
6 | g.159692652G>A | CA366295781 | SOD2 | c.226+9C>T (n.226+9C>T) c.88+9C>T (n.88+9C>T) c.235C>T (p.Gln79Ter) c.295+9C>T (n.295+9C>T) | dbSNP |
6 | g.159692652G>C | CA366295783 | SOD2 | c.226+9C>G (n.226+9C>G) c.88+9C>G (n.88+9C>G) c.235C>G (p.Gln79Glu) c.295+9C>G (n.295+9C>G) | |
6 | g.159692652G= | CA1676708761 | SOD2 | c.226+9C= (n.226+9C=) c.88+9C= (n.88+9C=) c.235C= (p.Gln79=) c.295+9C= (n.295+9C=) | |
6 | g.159692652G>T | CA366295785 | SOD2 | c.226+9C>A (n.226+9C>A) c.88+9C>A (n.88+9C>A) c.235C>A (p.Gln79Lys) c.295+9C>A (n.295+9C>A) | |
6 | g.159692653G>C | CA366295786 | SOD2 | c.226+8C>G (n.226+8C>G) c.88+8C>G (n.88+8C>G) c.234C>G (p.Phe78Leu) c.295+8C>G (n.295+8C>G) | |
6 | g.159692653G>T | CA366295788 | SOD2 | c.226+8C>A (n.226+8C>A) c.88+8C>A (n.88+8C>A) c.234C>A (p.Phe78Leu) c.295+8C>A (n.295+8C>A) | |
6 | g.159692654A>C | CA366295794 | SOD2 | c.226+7T>G (n.226+7T>G) c.88+7T>G (n.88+7T>G) c.233T>G (p.Phe78Cys) c.295+7T>G (n.295+7T>G) | gnomAD v4 |
6 | g.159692654A>G | CA366295792 | SOD2 | c.226+7T>C (n.226+7T>C) c.88+7T>C (n.88+7T>C) c.233T>C (p.Phe78Ser) c.295+7T>C (n.295+7T>C) | |
6 | g.159692654A>T | CA366295790 | SOD2 | c.226+7T>A (n.226+7T>A) c.88+7T>A (n.88+7T>A) c.233T>A (p.Phe78Tyr) c.295+7T>A (n.295+7T>A) | |
6 | g.159692655A= | CA1676708762 | SOD2 | c.226+6T= (n.226+6T=) c.88+6T= (n.88+6T=) c.232T= (p.Phe78=) c.295+6T= (n.295+6T=) | |
6 | g.159692655A>C | CA366295796 | SOD2 | c.226+6T>G (n.226+6T>G) c.88+6T>G (n.88+6T>G) c.232T>G (p.Phe78Val) c.295+6T>G (n.295+6T>G) | |
6 | g.159692655A>G | CA366295798 | SOD2 | c.226+6T>C (n.226+6T>C) c.88+6T>C (n.88+6T>C) c.232T>C (p.Phe78Leu) c.295+6T>C (n.295+6T>C) | dbSNP gnomAD v2 |
6 | g.159692655A>T | CA366295799 | SOD2 | c.226+6T>A (n.226+6T>A) c.88+6T>A (n.88+6T>A) c.232T>A (p.Phe78Ile) c.295+6T>A (n.295+6T>A) | |
6 | g.159692656C>A | CA366295802 | SOD2 | c.226+5G>T (n.226+5G>T) c.88+5G>T (n.88+5G>T) c.231G>T (p.Arg77Ser) c.295+5G>T (n.295+5G>T) | |
6 | g.159692656C= | CA1676708763 | SOD2 | c.226+5G= (n.226+5G=) c.88+5G= (n.88+5G=) c.231G= (p.Arg77=) c.295+5G= (n.295+5G=) | |
6 | g.159692656C>G | CA366295804 | SOD2 | c.226+5G>C (n.226+5G>C) c.88+5G>C (n.88+5G>C) c.231G>C (p.Arg77Ser) c.295+5G>C (n.295+5G>C) | |
6 | g.159692656C>T | CA1096477313 | SOD2 | c.226+5G>A (n.226+5G>A) c.88+5G>A (n.88+5G>A) c.231G>A (p.Arg77=) c.295+5G>A (n.295+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692656_159692657insTGGGGCCAAGG | CA571905149 | SOD2 | c.226+4_226+5insCCTTGGCCCCA (n.226+4_226+5insCCTTGGCCCCA) c.88+4_88+5insCCTTGGCCCCA (n.88+4_88+5insCCTTGGCCCCA) c.230_231insCCTTGGCCCCA (p.Arg77SerfsTer?) c.295+4_295+5insCCTTGGCCCCA (n.295+4_295+5insCCTTGGCCCCA) | dbSNP gnomAD v2 |
6 | g.159692657C>A | CA366295807 | SOD2 | c.226+4G>T (n.226+4G>T) c.88+4G>T (n.88+4G>T) c.230G>T (p.Arg77Met) c.295+4G>T (n.295+4G>T) | gnomAD v4 |
6 | g.159692657C>G | CA366295808 | SOD2 | c.226+4G>C (n.226+4G>C) c.88+4G>C (n.88+4G>C) c.230G>C (p.Arg77Thr) c.295+4G>C (n.295+4G>C) | |
6 | g.159692657C>T | CA366295809 | SOD2 | c.226+4G>A (n.226+4G>A) c.88+4G>A (n.88+4G>A) c.230G>A (p.Arg77Lys) c.295+4G>A (n.295+4G>A) | gnomAD v4 |
6 | g.159692658T>A | CA366295812 | SOD2 | c.226+3A>T (n.226+3A>T) c.88+3A>T (n.88+3A>T) c.229A>T (p.Arg77Trp) c.295+3A>T (n.295+3A>T) | |
6 | g.159692658T>C | CA366295814 | SOD2 | c.226+3A>G (n.226+3A>G) c.88+3A>G (n.88+3A>G) c.229A>G (p.Arg77Gly) c.295+3A>G (n.295+3A>G) | gnomAD v4 |
6 | g.159692658T>G | CA2578785942 | SOD2 | c.226+3A>C (n.226+3A>C) c.88+3A>C (n.88+3A>C) c.229A>C (p.Arg77=) c.295+3A>C (n.295+3A>C) | |
6 | g.159692658T= | CA1676708764 | SOD2 | c.226+3A= (n.226+3A=) c.88+3A= (n.88+3A=) c.229A= (p.Arg77=) c.295+3A= (n.295+3A=) | |
6 | g.159692658_159692659insC | CA571905150 | SOD2 | c.226+2_226+3insG (n.226+2_226+3insG) c.88+2_88+3insG (n.88+2_88+3insG) c.228_229insG (p.Arg77GlufsTer5) c.295+2_295+3insG (n.295+2_295+3insG) | dbSNP gnomAD v2 |
6 | g.159692659A= | CA1676708765 | SOD2 | c.226+2T= (n.226+2T=) c.88+2T= (n.88+2T=) c.228T= (p.Gly76=) c.295+2T= (n.295+2T=) | |
6 | g.159692659A>C | CA366295816 | SOD2 | c.226+2T>G (n.226+2T>G) c.88+2T>G (n.88+2T>G) c.228T>G (p.Gly76=) c.295+2T>G (n.295+2T>G) | |
6 | g.159692659A>G | CA366295818 | SOD2 | c.226+2T>C (n.226+2T>C) c.88+2T>C (n.88+2T>C) c.228T>C (p.Gly76=) c.295+2T>C (n.295+2T>C) | |
6 | g.159692659A>T | CA366295819 | SOD2 | c.226+2T>A (n.226+2T>A) c.88+2T>A (n.88+2T>A) c.228T>A (p.Gly76=) c.295+2T>A (n.295+2T>A) | |
6 | g.159692659_159692660insG | CA571905151 | SOD2 | c.226+1_226+2insC (n.226+1_226+2insC) c.88+1_88+2insC (n.88+1_88+2insC) c.227_228insC (p.Arg77Ter) c.295+1_295+2insC (n.295+1_295+2insC) | dbSNP gnomAD v2 |
6 | g.159692660C>A | CA366295822 | SOD2 | c.226+1G>T (n.226+1G>T) c.88+1G>T (n.88+1G>T) c.227G>T (p.Gly76Val) c.295+1G>T (n.295+1G>T) | |
6 | g.159692660C= | CA1676708766 | SOD2 | c.226+1G= (n.226+1G=) c.88+1G= (n.88+1G=) c.227G= (p.Gly76=) c.295+1G= (n.295+1G=) | |
6 | g.159692660C>G | CA366295825 | SOD2 | c.226+1G>C (n.226+1G>C) c.88+1G>C (n.88+1G>C) c.227G>C (p.Gly76Ala) c.295+1G>C (n.295+1G>C) | |
6 | g.159692660C>T | CA4078376 | SOD2 | c.226+1G>A (n.226+1G>A) c.88+1G>A (n.88+1G>A) c.227G>A (p.Gly76Asp) c.295+1G>A (n.295+1G>A) | dbSNP ExAC gnomAD v2 |
6 | g.159692661C>A | CA366295827 | SOD2 | c.226G>T (p.Gly76Ter) c.226G>T (p.Gly76Trp) c.88G>T (p.Gly30Trp) c.226G>T (p.Gly76Cys) c.295G>T (p.Gly99Ter) c.88G>T (p.Gly30Ter) | |
6 | g.159692661C= | CA1676708767 | SOD2 | c.226G= (p.Gly76=) c.88G= (p.Gly30=) c.295G= (p.Gly99=) | |
6 | g.159692661C>G | CA366295829 | SOD2 | c.226G>C (p.Gly76Arg) c.88G>C (p.Gly30Arg) c.295G>C (p.Gly99Arg) | |
6 | g.159692661C>T | CA151086660 | SOD2 | c.226G>A (p.Gly76Arg) c.88G>A (p.Gly30Arg) c.226G>A (p.Gly76Ser) c.295G>A (p.Gly99Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692662C>A | CA366295833 | SOD2 | c.225G>T (p.Lys75Asn) c.87G>T (p.Lys29Asn) c.294G>T (p.Lys98Asn) | |
6 | g.159692662C>G | CA366295834 | SOD2 | c.225G>C (p.Lys75Asn) c.87G>C (p.Lys29Asn) c.294G>C (p.Lys98Asn) | |
6 | g.159692662C>T | CA452985836 | SOD2 | c.225G>A (p.Lys75=) c.87G>A (p.Lys29=) c.294G>A (p.Lys98=) | gnomAD v4 |
6 | g.159692663T>A | CA366295837 | SOD2 | c.224A>T (p.Lys75Met) c.86A>T (p.Lys29Met) c.293A>T (p.Lys98Met) | |
6 | g.159692663T>C | CA366295839 | SOD2 | c.224A>G (p.Lys75Arg) c.86A>G (p.Lys29Arg) c.293A>G (p.Lys98Arg) | |
6 | g.159692663T>G | CA366295841 | SOD2 | c.224A>C (p.Lys75Thr) c.86A>C (p.Lys29Thr) c.293A>C (p.Lys98Thr) | |
6 | g.159692664T>A | CA366295844 | SOD2 | c.223A>T (p.Lys75Ter) c.85A>T (p.Lys29Ter) c.292A>T (p.Lys98Ter) | |
6 | g.159692664T>C | CA151086669 | SOD2 | c.223A>G (p.Lys75Glu) c.85A>G (p.Lys29Glu) c.292A>G (p.Lys98Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692664T>G | CA366295847 | SOD2 | c.223A>C (p.Lys75Gln) c.85A>C (p.Lys29Gln) c.292A>C (p.Lys98Gln) | |
6 | g.159692664T= | CA1676708768 | SOD2 | c.223A= (p.Lys75=) c.85A= (p.Lys29=) c.292A= (p.Lys98=) | |
6 | g.159692665G>A | CA452985837 | SOD2 | c.222C>T (p.Ala74=) c.84C>T (p.Ala28=) c.291C>T (p.Ala97=) | |
6 | g.159692665G>C | CA452985838 | SOD2 | c.222C>G (p.Ala74=) c.84C>G (p.Ala28=) c.291C>G (p.Ala97=) | |
6 | g.159692665G>T | CA452985839 | SOD2 | c.222C>A (p.Ala74=) c.84C>A (p.Ala28=) c.291C>A (p.Ala97=) | |
6 | g.159692666G>A | CA366295851 | SOD2 | c.221C>T (p.Ala74Val) c.83C>T (p.Ala28Val) c.290C>T (p.Ala97Val) | gnomAD v4 |
6 | g.159692666G>C | CA366295853 | SOD2 | c.221C>G (p.Ala74Gly) c.83C>G (p.Ala28Gly) c.290C>G (p.Ala97Gly) | |
6 | g.159692666G>T | CA366295849 | SOD2 | c.221C>A (p.Ala74Asp) c.83C>A (p.Ala28Asp) c.290C>A (p.Ala97Asp) | gnomAD v4 |
6 | g.159692666_159692668del | CA2680994539 | SOD2 | c.219_221del (p.Leu73_Ala74delinsPhe) c.81_83del (p.Leu27_Ala28delinsPhe) c.288_290del (p.Leu96_Ala97delinsPhe) | gnomAD v4 |
6 | g.159692667C>A | CA366295856 | SOD2 | c.220G>T (p.Ala74Ser) c.82G>T (p.Ala28Ser) c.289G>T (p.Ala97Ser) | |
6 | g.159692667C>G | CA366295855 | SOD2 | c.220G>C (p.Ala74Pro) c.82G>C (p.Ala28Pro) c.289G>C (p.Ala97Pro) | |
6 | g.159692667C>T | CA366295858 | SOD2 | c.220G>A (p.Ala74Thr) c.82G>A (p.Ala28Thr) c.289G>A (p.Ala97Thr) | |
6 | g.159692668C>A | CA366295860 | SOD2 | c.219G>T (p.Leu73Phe) c.81G>T (p.Leu27Phe) c.288G>T (p.Leu96Phe) | |
6 | g.159692668C>G | CA366295862 | SOD2 | c.219G>C (p.Leu73Phe) c.81G>C (p.Leu27Phe) c.288G>C (p.Leu96Phe) | gnomAD v4 |
6 | g.159692668C>T | CA452985840 | SOD2 | c.219G>A (p.Leu73=) c.81G>A (p.Leu27=) c.288G>A (p.Leu96=) | |
6 | g.159692669A>C | CA366295864 | SOD2 | c.218T>G (p.Leu73Trp) c.80T>G (p.Leu27Trp) c.287T>G (p.Leu96Trp) | |
6 | g.159692669A>G | CA366295866 | SOD2 | c.218T>C (p.Leu73Ser) c.80T>C (p.Leu27Ser) c.287T>C (p.Leu96Ser) | |
6 | g.159692669A>T | CA366295868 | SOD2 | c.218T>A (p.Leu73Ter) c.80T>A (p.Leu27Ter) c.287T>A (p.Leu96Ter) | gnomAD v4 |
6 | g.159692670A= | CA1676708769 | SOD2 | c.217T= (p.Leu73=) c.79T= (p.Leu27=) c.286T= (p.Leu96=) | |
6 | g.159692670A>C | CA366295870 | SOD2 | c.217T>G (p.Leu73Val) c.79T>G (p.Leu27Val) c.286T>G (p.Leu96Val) | |
6 | g.159692670A>G | CA4078377 | SOD2 | c.217T>C (p.Leu73=) c.79T>C (p.Leu27=) c.286T>C (p.Leu96=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692670A>T | CA366295874 | SOD2 | c.217T>A (p.Leu73Met) c.79T>A (p.Leu27Met) c.286T>A (p.Leu96Met) | |
6 | g.159692671C>A | CA452985841 | SOD2 | c.216G>T (p.Ala72=) c.78G>T (p.Ala26=) c.285G>T (p.Ala95=) | dbSNP |
6 | g.159692671C= | CA1676708770 | SOD2 | c.216G= (p.Ala72=) c.78G= (p.Ala26=) c.285G= (p.Ala95=) | |
6 | g.159692671C>G | CA452985842 | SOD2 | c.216G>C (p.Ala72=) c.78G>C (p.Ala26=) c.285G>C (p.Ala95=) | gnomAD v4 |
6 | g.159692671C>T | CA4078378 | SOD2 | c.216G>A (p.Ala72=) c.78G>A (p.Ala26=) c.285G>A (p.Ala95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692672G>A | CA366295876 | SOD2 | c.215C>T (p.Ala72Val) c.77C>T (p.Ala26Val) c.284C>T (p.Ala95Val) | |
6 | g.159692672G>C | CA366295878 | SOD2 | c.215C>G (p.Ala72Gly) c.77C>G (p.Ala26Gly) c.284C>G (p.Ala95Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692672G= | CA1676708771 | SOD2 | c.215C= (p.Ala72=) c.77C= (p.Ala26=) c.284C= (p.Ala95=) | |
6 | g.159692672G>T | CA366295880 | SOD2 | c.215C>A (p.Ala72Glu) c.77C>A (p.Ala26Glu) c.284C>A (p.Ala95Glu) | gnomAD v4 |
6 | g.159692673C>A | CA366295882 | SOD2 | c.214G>T (p.Ala72Ser) c.76G>T (p.Ala26Ser) c.283G>T (p.Ala95Ser) | |
6 | g.159692673C= | CA1676708772 | SOD2 | c.214G= (p.Ala72=) c.76G= (p.Ala26=) c.283G= (p.Ala95=) | |
6 | g.159692673C>G | CA366295884 | SOD2 | c.214G>C (p.Ala72Pro) c.76G>C (p.Ala26Pro) c.283G>C (p.Ala95Pro) | |
6 | g.159692673C>T | CA366295886 | SOD2 | c.214G>A (p.Ala72Thr) c.76G>A (p.Ala26Thr) c.283G>A (p.Ala95Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692674C>A | CA366295889 | SOD2 | c.213G>T (p.Glu71Asp) c.75G>T (p.Glu25Asp) c.282G>T (p.Glu94Asp) | |
6 | g.159692674C>G | CA366295890 | SOD2 | c.213G>C (p.Glu71Asp) c.75G>C (p.Glu25Asp) c.282G>C (p.Glu94Asp) | |
6 | g.159692674C>T | CA452985843 | SOD2 | c.213G>A (p.Glu71=) c.75G>A (p.Glu25=) c.282G>A (p.Glu94=) | gnomAD v4 |
6 | g.159692675T>A | CA366295891 | SOD2 | c.212A>T (p.Glu71Val) c.74A>T (p.Glu25Val) c.281A>T (p.Glu94Val) | |
6 | g.159692675T>C | CA366295893 | SOD2 | c.212A>G (p.Glu71Gly) c.74A>G (p.Glu25Gly) c.281A>G (p.Glu94Gly) | gnomAD v4 |
6 | g.159692675T>G | CA366295894 | SOD2 | c.212A>C (p.Glu71Ala) c.74A>C (p.Glu25Ala) c.281A>C (p.Glu94Ala) | |
6 | g.159692676C>A | CA366295895 | SOD2 | c.211G>T (p.Glu71Ter) c.73G>T (p.Glu25Ter) c.280G>T (p.Glu94Ter) | |
6 | g.159692676C= | CA1676708773 | SOD2 | c.211G= (p.Glu71=) c.73G= (p.Glu25=) c.280G= (p.Glu94=) | |
6 | g.159692676C>G | CA366295896 | SOD2 | c.211G>C (p.Glu71Gln) c.73G>C (p.Glu25Gln) c.280G>C (p.Glu94Gln) | |
6 | g.159692676C>T | CA366295898 | SOD2 | c.211G>A (p.Glu71Lys) c.73G>A (p.Glu25Lys) c.280G>A (p.Glu94Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692677C>A | CA366295900 | SOD2 | c.210G>T (p.Gln70His) c.72G>T (p.Gln24His) c.279G>T (p.Gln93His) | |
6 | g.159692677C= | CA1676708774 | SOD2 | c.210G= (p.Gln70=) c.72G= (p.Gln24=) c.279G= (p.Gln93=) | |
6 | g.159692677C>G | CA366295901 | SOD2 | c.210G>C (p.Gln70His) c.72G>C (p.Gln24His) c.279G>C (p.Gln93His) | dbSNP gnomAD v4 |
6 | g.159692677C>T | CA452985844 | SOD2 | c.210G>A (p.Gln70=) c.72G>A (p.Gln24=) c.279G>A (p.Gln93=) | |
6 | g.159692678T>A | CA366295904 | SOD2 | c.209A>T (p.Gln70Leu) c.71A>T (p.Gln24Leu) c.278A>T (p.Gln93Leu) | |
6 | g.159692678T>C | CA366295906 | SOD2 | c.209A>G (p.Gln70Arg) c.71A>G (p.Gln24Arg) c.278A>G (p.Gln93Arg) | dbSNP gnomAD v4 |
6 | g.159692678T>G | CA366295907 | SOD2 | c.209A>C (p.Gln70Pro) c.71A>C (p.Gln24Pro) c.278A>C (p.Gln93Pro) | |
6 | g.159692678T= | CA1676708775 | SOD2 | c.209A= (p.Gln70=) c.71A= (p.Gln24=) c.278A= (p.Gln93=) | |
6 | g.159692679G>A | CA366295914 | SOD2 | c.208C>T (p.Gln70Ter) c.70C>T (p.Gln24Ter) c.277C>T (p.Gln93Ter) | |
6 | g.159692679G>C | CA366295912 | SOD2 | c.208C>G (p.Gln70Glu) c.70C>G (p.Gln24Glu) c.277C>G (p.Gln93Glu) | |
6 | g.159692679G>T | CA366295910 | SOD2 | c.208C>A (p.Gln70Lys) c.70C>A (p.Gln24Lys) c.277C>A (p.Gln93Lys) | |
6 | g.159692680G>A | CA452985845 | SOD2 | c.207C>T (p.Tyr69=) c.69C>T (p.Tyr23=) c.276C>T (p.Tyr92=) | dbSNP |
6 | g.159692680G>C | CA366295917 | SOD2 | c.207C>G (p.Tyr69Ter) c.69C>G (p.Tyr23Ter) c.276C>G (p.Tyr92Ter) | |
6 | g.159692680G= | CA1676708776 | SOD2 | c.207C= (p.Tyr69=) c.69C= (p.Tyr23=) c.276C= (p.Tyr92=) | |
6 | g.159692680G>T | CA366295918 | SOD2 | c.207C>A (p.Tyr69Ter) c.69C>A (p.Tyr23Ter) c.276C>A (p.Tyr92Ter) | |
6 | g.159692681T>A | CA366295920 | SOD2 | c.206A>T (p.Tyr69Phe) c.68A>T (p.Tyr23Phe) c.275A>T (p.Tyr92Phe) | |
6 | g.159692681T>C | CA366295921 | SOD2 | c.206A>G (p.Tyr69Cys) c.68A>G (p.Tyr23Cys) c.275A>G (p.Tyr92Cys) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692681T>G | CA366295923 | SOD2 | c.206A>C (p.Tyr69Ser) c.68A>C (p.Tyr23Ser) c.275A>C (p.Tyr92Ser) | |
6 | g.159692681T= | CA1676708777 | SOD2 | c.206A= (p.Tyr69=) c.68A= (p.Tyr23=) c.275A= (p.Tyr92=) | |
6 | g.159692682A>C | CA366295924 | SOD2 | c.205T>G (p.Tyr69Asp) c.67T>G (p.Tyr23Asp) c.274T>G (p.Tyr92Asp) | |
6 | g.159692682A>G | CA366295926 | SOD2 | c.205T>C (p.Tyr69His) c.67T>C (p.Tyr23His) c.274T>C (p.Tyr92His) | |
6 | g.159692682A>T | CA366295928 | SOD2 | c.205T>A (p.Tyr69Asn) c.67T>A (p.Tyr23Asn) c.274T>A (p.Tyr92Asn) | |
6 | g.159692683C>A | CA366295930 | SOD2 | c.204G>T (p.Lys68Asn) c.66G>T (p.Lys22Asn) c.273G>T (p.Lys91Asn) | |
6 | g.159692683C>G | CA366295931 | SOD2 | c.204G>C (p.Lys68Asn) c.66G>C (p.Lys22Asn) c.273G>C (p.Lys91Asn) | |
6 | g.159692683C>T | CA452985846 | SOD2 | c.204G>A (p.Lys68=) c.66G>A (p.Lys22=) c.273G>A (p.Lys91=) | gnomAD v4 |
6 | g.159692684T>A | CA366295934 | SOD2 | c.203A>T (p.Lys68Met) c.65A>T (p.Lys22Met) c.272A>T (p.Lys91Met) | |
6 | g.159692684T>C | CA366295936 | SOD2 | c.203A>G (p.Lys68Arg) c.65A>G (p.Lys22Arg) c.272A>G (p.Lys91Arg) | |
6 | g.159692684T>G | CA366295938 | SOD2 | c.203A>C (p.Lys68Thr) c.65A>C (p.Lys22Thr) c.272A>C (p.Lys91Thr) | |
6 | g.159692685T>A | CA366295939 | SOD2 | c.202A>T (p.Lys68Ter) c.64A>T (p.Lys22Ter) c.271A>T (p.Lys91Ter) | |
6 | g.159692685T>C | CA366295942 | SOD2 | c.202A>G (p.Lys68Glu) c.64A>G (p.Lys22Glu) c.271A>G (p.Lys91Glu) | |
6 | g.159692685T>G | CA366295941 | SOD2 | c.202A>C (p.Lys68Gln) c.64A>C (p.Lys22Gln) c.271A>C (p.Lys91Gln) | |
6 | g.159692685_159692688delinsTCTC | CA1676708778 | SOD2 | c.199_202delinsGAGA (p.Glu67=) c.61_64delinsGAGA (p.Glu21=) c.268_271delinsGAGA (p.Glu90=) | |
6 | g.159692686C>A | CA366295945 | SOD2 | c.201G>T (p.Glu67Asp) c.63G>T (p.Glu21Asp) c.270G>T (p.Glu90Asp) | |
6 | g.159692686C= | CA1676708779 | SOD2 | c.201G= (p.Glu67=) c.63G= (p.Glu21=) c.270G= (p.Glu90=) | |
6 | g.159692686C>G | CA366295946 | SOD2 | c.201G>C (p.Glu67Asp) c.63G>C (p.Glu21Asp) c.270G>C (p.Glu90Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692686C>T | CA452985847 | SOD2 | c.201G>A (p.Glu67=) c.63G>A (p.Glu21=) c.270G>A (p.Glu90=) | dbSNP |
6 | g.159692689_159692691del | CA4078379 | SOD2 | c.199_201del (p.Glu67del) c.61_63del (p.Glu21del) c.268_270del (p.Glu90del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.159692687T>A | CA366295948 | SOD2 | c.200A>T (p.Glu67Val) c.62A>T (p.Glu21Val) c.269A>T (p.Glu90Val) | gnomAD v4 |
6 | g.159692687T>C | CA366295950 | SOD2 | c.200A>G (p.Glu67Gly) c.62A>G (p.Glu21Gly) c.269A>G (p.Glu90Gly) | dbSNP |
6 | g.159692687T>G | CA366295952 | SOD2 | c.200A>C (p.Glu67Ala) c.62A>C (p.Glu21Ala) c.269A>C (p.Glu90Ala) | |
6 | g.159692687T= | CA1676708780 | SOD2 | c.200A= (p.Glu67=) c.62A= (p.Glu21=) c.269A= (p.Glu90=) | |
6 | g.159692688C>A | CA366295953 | SOD2 | c.199G>T (p.Glu67Ter) c.61G>T (p.Glu21Ter) c.268G>T (p.Glu90Ter) | |
6 | g.159692688C= | CA1676708781 | SOD2 | c.199G= (p.Glu67=) c.61G= (p.Glu21=) c.268G= (p.Glu90=) | |
6 | g.159692688C>G | CA366295954 | SOD2 | c.199G>C (p.Glu67Gln) c.61G>C (p.Glu21Gln) c.268G>C (p.Glu90Gln) | |
6 | g.159692688C>T | CA4078380 | SOD2 | c.199G>A (p.Glu67Lys) c.61G>A (p.Glu21Lys) c.268G>A (p.Glu90Lys) | dbSNP ExAC gnomAD v2 |
6 | g.159692689dup | CA2680994540 | SOD2 | c.199dup (p.Glu67GlyfsTer?) c.199dup (p.Glu67GlyfsTer19) c.61dup (p.Glu21GlyfsTer19) c.199dup (p.Glu67GlyfsTer11) c.268dup (p.Glu90GlyfsTer?) c.61dup (p.Glu21GlyfsTer?) | gnomAD v4 |
6 | g.159692689C>A | CA366295955 | SOD2 | c.198G>T (p.Glu66Asp) c.60G>T (p.Glu20Asp) c.267G>T (p.Glu89Asp) | |
6 | g.159692689C= | CA1676708782 | SOD2 | c.198G= (p.Glu66=) c.60G= (p.Glu20=) c.267G= (p.Glu89=) | |
6 | g.159692689C>G | CA366295957 | SOD2 | c.198G>C (p.Glu66Asp) c.60G>C (p.Glu20Asp) c.267G>C (p.Glu89Asp) | dbSNP gnomAD v4 |
6 | g.159692689C>T | CA452985848 | SOD2 | c.198G>A (p.Glu66=) c.60G>A (p.Glu20=) c.267G>A (p.Glu89=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692690T>A | CA4078381 | SOD2 | c.197A>T (p.Glu66Val) c.59A>T (p.Glu20Val) c.266A>T (p.Glu89Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692690T>C | CA366295962 | SOD2 | c.197A>G (p.Glu66Gly) c.59A>G (p.Glu20Gly) c.266A>G (p.Glu89Gly) | |
6 | g.159692690T>G | CA366295960 | SOD2 | c.197A>C (p.Glu66Ala) c.59A>C (p.Glu20Ala) c.266A>C (p.Glu89Ala) | |
6 | g.159692690T= | CA1676708783 | SOD2 | c.197A= (p.Glu66=) c.59A= (p.Glu20=) c.266A= (p.Glu89=) | |
6 | g.159692691C>A | CA366295967 | SOD2 | c.196G>T (p.Glu66Ter) c.58G>T (p.Glu20Ter) c.265G>T (p.Glu89Ter) | |
6 | g.159692691C= | CA1676708784 | SOD2 | c.196G= (p.Glu66=) c.58G= (p.Glu20=) c.265G= (p.Glu89=) | |
6 | g.159692691C>G | CA366295965 | SOD2 | c.196G>C (p.Glu66Gln) c.58G>C (p.Glu20Gln) c.265G>C (p.Glu89Gln) | |
6 | g.159692691C>T | CA4078382 | SOD2 | c.196G>A (p.Glu66Lys) c.58G>A (p.Glu20Lys) c.265G>A (p.Glu89Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692692G>A | CA452985849 | SOD2 | c.195C>T (p.Thr65=) c.57C>T (p.Thr19=) c.264C>T (p.Thr88=) | gnomAD v4 |
6 | g.159692692G>C | CA151086688 | SOD2 | c.195C>G (p.Thr65=) c.57C>G (p.Thr19=) c.264C>G (p.Thr88=) | dbSNP gnomAD v4 |
6 | g.159692692G= | CA1676708785 | SOD2 | c.195C= (p.Thr65=) c.57C= (p.Thr19=) c.264C= (p.Thr88=) | |
6 | g.159692692G>T | CA452985850 | SOD2 | c.195C>A (p.Thr65=) c.57C>A (p.Thr19=) c.264C>A (p.Thr88=) | |
6 | g.159692693G>A | CA366295969 | SOD2 | c.194C>T (p.Thr65Ile) c.56C>T (p.Thr19Ile) c.263C>T (p.Thr88Ile) | gnomAD v4 |
6 | g.159692693G>C | CA366295972 | SOD2 | c.194C>G (p.Thr65Ser) c.56C>G (p.Thr19Ser) c.263C>G (p.Thr88Ser) | gnomAD v4 |
6 | g.159692693G>T | CA366295973 | SOD2 | c.194C>A (p.Thr65Asn) c.56C>A (p.Thr19Asn) c.263C>A (p.Thr88Asn) | |
6 | g.159692694T>A | CA366295975 | SOD2 | c.193A>T (p.Thr65Ser) c.55A>T (p.Thr19Ser) c.262A>T (p.Thr88Ser) | gnomAD v4 |
6 | g.159692694T>C | CA366295977 | SOD2 | c.193A>G (p.Thr65Ala) c.55A>G (p.Thr19Ala) c.262A>G (p.Thr88Ala) | |
6 | g.159692694T>G | CA366295979 | SOD2 | c.193A>C (p.Thr65Pro) c.55A>C (p.Thr19Pro) c.262A>C (p.Thr88Pro) | |
6 | g.159692695G>A | CA452985851 | SOD2 | c.192C>T (p.Val64=) c.54C>T (p.Val18=) c.261C>T (p.Val87=) | gnomAD v4 |
6 | g.159692695G>C | CA452985852 | SOD2 | c.192C>G (p.Val64=) c.54C>G (p.Val18=) c.261C>G (p.Val87=) | |
6 | g.159692695G>T | CA452985853 | SOD2 | c.192C>A (p.Val64=) c.54C>A (p.Val18=) c.261C>A (p.Val87=) | |
6 | g.159692696A= | CA1676708786 | SOD2 | c.191T= (p.Val64=) c.53T= (p.Val18=) c.260T= (p.Val87=) | |
6 | g.159692696A>C | CA366295981 | SOD2 | c.191T>G (p.Val64Gly) c.53T>G (p.Val18Gly) c.260T>G (p.Val87Gly) | |
6 | g.159692696A>G | CA366295983 | SOD2 | c.191T>C (p.Val64Ala) c.53T>C (p.Val18Ala) c.260T>C (p.Val87Ala) | dbSNP |
6 | g.159692696A>T | CA366295984 | SOD2 | c.191T>A (p.Val64Asp) c.53T>A (p.Val18Asp) c.260T>A (p.Val87Asp) | |
6 | g.159692697C>A | CA366295986 | SOD2 | c.190G>T (p.Val64Phe) c.52G>T (p.Val18Phe) c.259G>T (p.Val87Phe) | |
6 | g.159692697C= | CA1676708787 | SOD2 | c.190G= (p.Val64=) c.52G= (p.Val18=) c.259G= (p.Val87=) | |
6 | g.159692697C>G | CA366295987 | SOD2 | c.190G>C (p.Val64Leu) c.52G>C (p.Val18Leu) c.259G>C (p.Val87Leu) | |
6 | g.159692697C>T | CA4078383 | SOD2 | c.190G>A (p.Val64Ile) c.52G>A (p.Val18Ile) c.259G>A (p.Val87Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692698G>A | CA4078384 | SOD2 | c.189C>T (p.Asn63=) c.51C>T (p.Asn17=) c.258C>T (p.Asn86=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692698G>C | CA366295991 | SOD2 | c.189C>G (p.Asn63Lys) c.51C>G (p.Asn17Lys) c.258C>G (p.Asn86Lys) | |
6 | g.159692698G= | CA1676708788 | SOD2 | c.189C= (p.Asn63=) c.51C= (p.Asn17=) c.258C= (p.Asn86=) | |
6 | g.159692698G>T | CA366295992 | SOD2 | c.189C>A (p.Asn63Lys) c.51C>A (p.Asn17Lys) c.258C>A (p.Asn86Lys) | |
6 | g.159692699T>A | CA366295995 | SOD2 | c.188A>T (p.Asn63Ile) c.50A>T (p.Asn17Ile) c.257A>T (p.Asn86Ile) | |
6 | g.159692699T>C | CA366295997 | SOD2 | c.188A>G (p.Asn63Ser) c.50A>G (p.Asn17Ser) c.257A>G (p.Asn86Ser) | |
6 | g.159692699T>G | CA366295998 | SOD2 | c.188A>C (p.Asn63Thr) c.50A>C (p.Asn17Thr) c.257A>C (p.Asn86Thr) | |
6 | g.159692700T>A | CA366296001 | SOD2 | c.187A>T (p.Asn63Tyr) c.49A>T (p.Asn17Tyr) c.256A>T (p.Asn86Tyr) | gnomAD v4 |
6 | g.159692700T>C | CA366296004 | SOD2 | c.187A>G (p.Asn63Asp) c.49A>G (p.Asn17Asp) c.256A>G (p.Asn86Asp) | |
6 | g.159692700T>G | CA366296003 | SOD2 | c.187A>C (p.Asn63His) c.49A>C (p.Asn17His) c.256A>C (p.Asn86His) | |
6 | g.159692701C>A | CA452985854 | SOD2 | c.186G>T (p.Leu62=) c.48G>T (p.Leu16=) c.255G>T (p.Leu85=) | |
6 | g.159692701C= | CA1676708789 | SOD2 | c.186G= (p.Leu62=) c.48G= (p.Leu16=) c.255G= (p.Leu85=) | |
6 | g.159692701C>G | CA452985855 | SOD2 | c.186G>C (p.Leu62=) c.48G>C (p.Leu16=) c.255G>C (p.Leu85=) | dbSNP |
6 | g.159692701C>T | CA151086689 | SOD2 | c.186G>A (p.Leu62=) c.48G>A (p.Leu16=) c.255G>A (p.Leu85=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692702A>C | CA366296006 | SOD2 | c.185T>G (p.Leu62Arg) c.47T>G (p.Leu16Arg) c.254T>G (p.Leu85Arg) | |
6 | g.159692702A>G | CA366296007 | SOD2 | c.185T>C (p.Leu62Pro) c.47T>C (p.Leu16Pro) c.254T>C (p.Leu85Pro) | |
6 | g.159692702A>T | CA366296008 | SOD2 | c.185T>A (p.Leu62Gln) c.47T>A (p.Leu16Gln) c.254T>A (p.Leu85Gln) | |
6 | g.159692703G>A | CA452985856 | SOD2 | c.184C>T (p.Leu62=) c.46C>T (p.Leu16=) c.253C>T (p.Leu85=) | |
6 | g.159692703G>C | CA366296010 | SOD2 | c.184C>G (p.Leu62Val) c.46C>G (p.Leu16Val) c.253C>G (p.Leu85Val) | |
6 | g.159692703G>T | CA366296012 | SOD2 | c.184C>A (p.Leu62Met) c.46C>A (p.Leu16Met) c.253C>A (p.Leu85Met) | |
6 | g.159692704G>A | CA452985857 | SOD2 | c.183C>T (p.Asn61=) c.45C>T (p.Asn15=) c.252C>T (p.Asn84=) | dbSNP |
6 | g.159692704G>C | CA366296015 | SOD2 | c.183C>G (p.Asn61Lys) c.45C>G (p.Asn15Lys) c.252C>G (p.Asn84Lys) | |
6 | g.159692704G= | CA1676708790 | SOD2 | c.183C= (p.Asn61=) c.45C= (p.Asn15=) c.252C= (p.Asn84=) | |
6 | g.159692704G>T | CA366296017 | SOD2 | c.183C>A (p.Asn61Lys) c.45C>A (p.Asn15Lys) c.252C>A (p.Asn84Lys) | |
6 | g.159692705T>A | CA366296018 | SOD2 | c.182A>T (p.Asn61Ile) c.44A>T (p.Asn15Ile) c.251A>T (p.Asn84Ile) | |
6 | g.159692705T>C | CA366296020 | SOD2 | c.182A>G (p.Asn61Ser) c.44A>G (p.Asn15Ser) c.251A>G (p.Asn84Ser) | |
6 | g.159692705T>G | CA366296022 | SOD2 | c.182A>C (p.Asn61Thr) c.44A>C (p.Asn15Thr) c.251A>C (p.Asn84Thr) | ClinVar |
6 | g.159692706T>A | CA366296023 | SOD2 | c.181A>T (p.Asn61Tyr) c.43A>T (p.Asn15Tyr) c.250A>T (p.Asn84Tyr) | |
6 | g.159692706T>C | CA366296026 | SOD2 | c.181A>G (p.Asn61Asp) c.43A>G (p.Asn15Asp) c.250A>G (p.Asn84Asp) | |
6 | g.159692706T>G | CA366296028 | SOD2 | c.181A>C (p.Asn61His) c.43A>C (p.Asn15His) c.250A>C (p.Asn84His) | |
6 | g.159692707G>A | CA452985858 | SOD2 | c.180C>T (p.Asn60=) c.42C>T (p.Asn14=) c.249C>T (p.Asn83=) | dbSNP |
6 | g.159692707G>C | CA4078385 | SOD2 | c.180C>G (p.Asn60Lys) c.42C>G (p.Asn14Lys) c.249C>G (p.Asn83Lys) | dbSNP ExAC gnomAD v4 |
6 | g.159692707G= | CA1676708791 | SOD2 | c.180C= (p.Asn60=) c.42C= (p.Asn14=) c.249C= (p.Asn83=) | |
6 | g.159692707G>T | CA366296031 | SOD2 | c.180C>A (p.Asn60Lys) c.42C>A (p.Asn14Lys) c.249C>A (p.Asn83Lys) | |
6 | g.159692708T>A | CA366296034 | SOD2 | c.179A>T (p.Asn60Ile) c.41A>T (p.Asn14Ile) c.248A>T (p.Asn83Ile) | |
6 | g.159692708T>C | CA366296036 | SOD2 | c.179A>G (p.Asn60Ser) c.41A>G (p.Asn14Ser) c.248A>G (p.Asn83Ser) | |
6 | g.159692708T>G | CA366296037 | SOD2 | c.179A>C (p.Asn60Thr) c.41A>C (p.Asn14Thr) c.248A>C (p.Asn83Thr) | dbSNP |
6 | g.159692709T>A | CA366296040 | SOD2 | c.178A>T (p.Asn60Tyr) c.40A>T (p.Asn14Tyr) c.247A>T (p.Asn83Tyr) | |
6 | g.159692709T>C | CA366296042 | SOD2 | c.178A>G (p.Asn60Asp) c.40A>G (p.Asn14Asp) c.247A>G (p.Asn83Asp) | |
6 | g.159692709T>G | CA366296043 | SOD2 | c.178A>C (p.Asn60His) c.40A>C (p.Asn14His) c.247A>C (p.Asn83His) | |
6 | g.159692710C>A | CA452985860 | SOD2 | c.177G>T (p.Val59=) c.39G>T (p.Val13=) c.246G>T (p.Val82=) | |
6 | g.159692710C= | CA1676708792 | SOD2 | c.177G= (p.Val59=) c.39G= (p.Val13=) c.246G= (p.Val82=) | |
6 | g.159692710C>G | CA452985859 | SOD2 | c.177G>C (p.Val59=) c.39G>C (p.Val13=) c.246G>C (p.Val82=) | gnomAD v4 |
6 | g.159692710C>T | CA4078386 | SOD2 | c.177G>A (p.Val59=) c.39G>A (p.Val13=) c.246G>A (p.Val82=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692711A>C | CA366296047 | SOD2 | c.176T>G (p.Val59Gly) c.38T>G (p.Val13Gly) c.245T>G (p.Val82Gly) | |
6 | g.159692711A>G | CA366296049 | SOD2 | c.176T>C (p.Val59Ala) c.38T>C (p.Val13Ala) c.245T>C (p.Val82Ala) | |
6 | g.159692711A>T | CA366296051 | SOD2 | c.176T>A (p.Val59Glu) c.38T>A (p.Val13Glu) c.245T>A (p.Val82Glu) | |
6 | g.159692712C>A | CA366296053 | SOD2 | c.175G>T (p.Val59Leu) c.37G>T (p.Val13Leu) c.244G>T (p.Val82Leu) | dbSNP |
6 | g.159692712C= | CA1676708793 | SOD2 | c.175G= (p.Val59=) c.37G= (p.Val13=) c.244G= (p.Val82=) | |
6 | g.159692712C>G | CA366296055 | SOD2 | c.175G>C (p.Val59Leu) c.37G>C (p.Val13Leu) c.244G>C (p.Val82Leu) | |
6 | g.159692712C>T | CA366296057 | SOD2 | c.175G>A (p.Val59Met) c.37G>A (p.Val13Met) c.244G>A (p.Val82Met) | |
6 | g.159692713G>A | CA452985861 | SOD2 | c.174C>T (p.Tyr58=) c.36C>T (p.Tyr12=) c.243C>T (p.Tyr81=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692713G>C | CA366296058 | SOD2 | c.174C>G (p.Tyr58Ter) c.36C>G (p.Tyr12Ter) c.243C>G (p.Tyr81Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692713G= | CA1676708794 | SOD2 | c.174C= (p.Tyr58=) c.36C= (p.Tyr12=) c.243C= (p.Tyr81=) | |
6 | g.159692713G>T | CA366296061 | SOD2 | c.174C>A (p.Tyr58Ter) c.36C>A (p.Tyr12Ter) c.243C>A (p.Tyr81Ter) | |
6 | g.159692714T>A | CA366296063 | SOD2 | c.173A>T (p.Tyr58Phe) c.35A>T (p.Tyr12Phe) c.242A>T (p.Tyr81Phe) | |
6 | g.159692714T>C | CA366296065 | SOD2 | c.173A>G (p.Tyr58Cys) c.35A>G (p.Tyr12Cys) c.242A>G (p.Tyr81Cys) | |
6 | g.159692714T>G | CA4078387 | SOD2 | c.173A>C (p.Tyr58Ser) c.35A>C (p.Tyr12Ser) c.242A>C (p.Tyr81Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692714T= | CA1676708795 | SOD2 | c.173A= (p.Tyr58=) c.35A= (p.Tyr12=) c.242A= (p.Tyr81=) | |
6 | g.159692715A>C | CA366296068 | SOD2 | c.172T>G (p.Tyr58Asp) c.34T>G (p.Tyr12Asp) c.241T>G (p.Tyr81Asp) | |
6 | g.159692715A>G | CA366296070 | SOD2 | c.172T>C (p.Tyr58His) c.34T>C (p.Tyr12His) c.241T>C (p.Tyr81His) | gnomAD v4 |
6 | g.159692715A>T | CA366296071 | SOD2 | c.172T>A (p.Tyr58Asn) c.34T>A (p.Tyr12Asn) c.241T>A (p.Tyr81Asn) | |
6 | g.159692716G>A | CA4078388 | SOD2 | c.171C>T (p.Ala57=) c.33C>T (p.Ala11=) c.240C>T (p.Ala80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692716G>C | CA452985862 | SOD2 | c.171C>G (p.Ala57=) c.33C>G (p.Ala11=) c.240C>G (p.Ala80=) | |
6 | g.159692716G= | CA1676708796 | SOD2 | c.171C= (p.Ala57=) c.33C= (p.Ala11=) c.240C= (p.Ala80=) | |
6 | g.159692716G>T | CA452985863 | SOD2 | c.171C>A (p.Ala57=) c.33C>A (p.Ala11=) c.240C>A (p.Ala80=) | dbSNP COSMIC |
6 | g.159692717G>A | CA366296079 | SOD2 | c.170C>T (p.Ala57Val) c.32C>T (p.Ala11Val) c.239C>T (p.Ala80Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692717G>C | CA366296075 | SOD2 | c.170C>G (p.Ala57Gly) c.32C>G (p.Ala11Gly) c.239C>G (p.Ala80Gly) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.159692717G= | CA1676708797 | SOD2 | c.170C= (p.Ala57=) c.32C= (p.Ala11=) c.239C= (p.Ala80=) | |
6 | g.159692717G>T | CA366296077 | SOD2 | c.170C>A (p.Ala57Asp) c.32C>A (p.Ala11Asp) c.239C>A (p.Ala80Asp) | |
6 | g.159692718C>A | CA366296081 | SOD2 | c.169G>T (p.Ala57Ser) c.31G>T (p.Ala11Ser) c.238G>T (p.Ala80Ser) | |
6 | g.159692718C= | CA1676708798 | SOD2 | c.169G= (p.Ala57=) c.31G= (p.Ala11=) c.238G= (p.Ala80=) | |
6 | g.159692718C>G | CA366296083 | SOD2 | c.169G>C (p.Ala57Pro) c.31G>C (p.Ala11Pro) c.238G>C (p.Ala80Pro) | |
6 | g.159692718C>T | CA366296085 | SOD2 | c.169G>A (p.Ala57Thr) c.31G>A (p.Ala11Thr) c.238G>A (p.Ala80Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692719C>A | CA452985865 | SOD2 | c.168G>T (p.Ala56=) c.30G>T (p.Ala10=) c.237G>T (p.Ala79=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692719C= | CA1676708799 | SOD2 | c.168G= (p.Ala56=) c.30G= (p.Ala10=) c.237G= (p.Ala79=) | |
6 | g.159692719C>G | CA452985864 | SOD2 | c.168G>C (p.Ala56=) c.30G>C (p.Ala10=) c.237G>C (p.Ala79=) | dbSNP |
6 | g.159692719C>T | CA452985866 | SOD2 | c.168G>A (p.Ala56=) c.30G>A (p.Ala10=) c.237G>A (p.Ala79=) | |
6 | g.159692720G>A | CA151086737 | SOD2 | c.167C>T (p.Ala56Val) c.29C>T (p.Ala10Val) c.236C>T (p.Ala79Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692720G>C | CA366296089 | SOD2 | c.167C>G (p.Ala56Gly) c.29C>G (p.Ala10Gly) c.236C>G (p.Ala79Gly) | |
6 | g.159692720G= | CA1676708800 | SOD2 | c.167C= (p.Ala56=) c.29C= (p.Ala10=) c.236C= (p.Ala79=) | |
6 | g.159692720G>T | CA366296087 | SOD2 | c.167C>A (p.Ala56Glu) c.29C>A (p.Ala10Glu) c.236C>A (p.Ala79Glu) | dbSNP gnomAD v2 |
6 | g.159692721C>A | CA366296091 | SOD2 | c.166G>T (p.Ala56Ser) c.28G>T (p.Ala10Ser) c.235G>T (p.Ala79Ser) | |
6 | g.159692721C= | CA1676708801 | SOD2 | c.166G= (p.Ala56=) c.28G= (p.Ala10=) c.235G= (p.Ala79=) | |
6 | g.159692721C>G | CA366296093 | SOD2 | c.166G>C (p.Ala56Pro) c.28G>C (p.Ala10Pro) c.235G>C (p.Ala79Pro) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.159692721C>T | CA366296095 | SOD2 | c.166G>A (p.Ala56Thr) c.28G>A (p.Ala10Thr) c.235G>A (p.Ala79Thr) | |
6 | g.159692722G>A | CA4078390 | SOD2 | c.165C>T (p.His55=) c.27C>T (p.His9=) c.234C>T (p.His78=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.159692722G>C | CA4078389 | SOD2 | c.165C>G (p.His55Gln) c.27C>G (p.His9Gln) c.234C>G (p.His78Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.159692722G= | CA1676708802 | SOD2 | c.165C= (p.His55=) c.27C= (p.His9=) c.234C= (p.His78=) | |
6 | g.159692722G>T | CA366296099 | SOD2 | c.165C>A (p.His55Gln) c.27C>A (p.His9Gln) c.234C>A (p.His78Gln) |