Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120626897C>A | CA414209592 | C1GALT1C1 | c.270G>T (p.Trp90Cys) | |
X | g.120626897C= | CA2454930909 | C1GALT1C1 | c.270G= (p.Trp90=) | |
X | g.120626897C>G | CA414209593 | C1GALT1C1 | c.270G>C (p.Trp90Cys) | dbSNP |
X | g.120626897C>T | CA414209597 | C1GALT1C1 | c.270G>A (p.Trp90Ter) | |
X | g.120626898C>A | CA414209600 | C1GALT1C1 | c.269G>T (p.Trp90Leu) | |
X | g.120626898C>G | CA414209601 | C1GALT1C1 | c.269G>C (p.Trp90Ser) | |
X | g.120626898C>T | CA414209603 | C1GALT1C1 | c.269G>A (p.Trp90Ter) | |
X | g.120626899A>C | CA414209606 | C1GALT1C1 | c.268T>G (p.Trp90Gly) | |
X | g.120626899A>G | CA414209609 | C1GALT1C1 | c.268T>C (p.Trp90Arg) | |
X | g.120626899A>T | CA414209611 | C1GALT1C1 | c.268T>A (p.Trp90Arg) | |
X | g.120626900A>C | CA518448334 | C1GALT1C1 | c.267T>G (p.Thr89=) | |
X | g.120626900A>G | CA518448335 | C1GALT1C1 | c.267T>C (p.Thr89=) | |
X | g.120626900A>T | CA518448336 | C1GALT1C1 | c.267T>A (p.Thr89=) | |
X | g.120626901G>A | CA414209612 | C1GALT1C1 | c.266C>T (p.Thr89Ile) | ClinVar |
X | g.120626901G>C | CA414209613 | C1GALT1C1 | c.266C>G (p.Thr89Ser) | |
X | g.120626901G>T | CA414209614 | C1GALT1C1 | c.266C>A (p.Thr89Asn) | |
X | g.120626902T>A | CA414209616 | C1GALT1C1 | c.265A>T (p.Thr89Ser) | |
X | g.120626902T>C | CA414209617 | C1GALT1C1 | c.265A>G (p.Thr89Ala) | |
X | g.120626902T>G | CA414209615 | C1GALT1C1 | c.265A>C (p.Thr89Pro) | |
X | g.120626903C>A | CA414209618 | C1GALT1C1 | c.264G>T (p.Glu88Asp) | |
X | g.120626903C>G | CA414209620 | C1GALT1C1 | c.264G>C (p.Glu88Asp) | |
X | g.120626903C>T | CA518448339 | C1GALT1C1 | c.264G>A (p.Glu88=) | |
X | g.120626904T>A | CA414209623 | C1GALT1C1 | c.263A>T (p.Glu88Val) | |
X | g.120626904T>C | CA414209624 | C1GALT1C1 | c.263A>G (p.Glu88Gly) | |
X | g.120626904T>G | CA414209629 | C1GALT1C1 | c.263A>C (p.Glu88Ala) | |
X | g.120626905C>A | CA414209632 | C1GALT1C1 | c.262G>T (p.Glu88Ter) | |
X | g.120626905C>G | CA414209633 | C1GALT1C1 | c.262G>C (p.Glu88Gln) | |
X | g.120626905C>T | CA414209635 | C1GALT1C1 | c.262G>A (p.Glu88Lys) | |
X | g.120626906C>A | CA414209637 | C1GALT1C1 | c.261G>T (p.Lys87Asn) | |
X | g.120626906C>G | CA414209639 | C1GALT1C1 | c.261G>C (p.Lys87Asn) | |
X | g.120626906C>T | CA518448342 | C1GALT1C1 | c.261G>A (p.Lys87=) | |
X | g.120626907T>A | CA414209641 | C1GALT1C1 | c.260A>T (p.Lys87Met) | |
X | g.120626907T>C | CA414209643 | C1GALT1C1 | c.260A>G (p.Lys87Arg) | |
X | g.120626907T>G | CA414209645 | C1GALT1C1 | c.260A>C (p.Lys87Thr) | |
X | g.120626908T>A | CA414209649 | C1GALT1C1 | c.259A>T (p.Lys87Ter) | |
X | g.120626908T>C | CA414209648 | C1GALT1C1 | c.259A>G (p.Lys87Glu) | |
X | g.120626908T>G | CA414209647 | C1GALT1C1 | c.259A>C (p.Lys87Gln) | |
X | g.120626909T>A | CA518448346 | C1GALT1C1 | c.258A>T (p.Val86=) | |
X | g.120626909T>C | CA518448348 | C1GALT1C1 | c.258A>G (p.Val86=) | dbSNP gnomAD v4 |
X | g.120626909T>G | CA518448349 | C1GALT1C1 | c.258A>C (p.Val86=) | |
X | g.120626909T= | CA2454930911 | C1GALT1C1 | c.258A= (p.Val86=) | |
X | g.120626910A>C | CA414209651 | C1GALT1C1 | c.257T>G (p.Val86Gly) | |
X | g.120626910A>G | CA414209657 | C1GALT1C1 | c.257T>C (p.Val86Ala) | |
X | g.120626910A>T | CA414209660 | C1GALT1C1 | c.257T>A (p.Val86Glu) | |
X | g.120626911C>A | CA414209662 | C1GALT1C1 | c.256G>T (p.Val86Leu) | |
X | g.120626911C= | CA2454930913 | C1GALT1C1 | c.256G= (p.Val86=) | |
X | g.120626911C>G | CA10505978 | C1GALT1C1 | c.256G>C (p.Val86Leu) | dbSNP ExAC |
X | g.120626911C>T | CA414209663 | C1GALT1C1 | c.256G>A (p.Val86Ile) | |
X | g.120626912T>A | CA518448352 | C1GALT1C1 | c.255A>T (p.Ala85=) | |
X | g.120626912T>C | CA518448353 | C1GALT1C1 | c.255A>G (p.Ala85=) | dbSNP gnomAD v4 |
X | g.120626912T>G | CA518448354 | C1GALT1C1 | c.255A>C (p.Ala85=) | |
X | g.120626912T= | CA2454930914 | C1GALT1C1 | c.255A= (p.Ala85=) | |
X | g.120626913G>A | CA414209664 | C1GALT1C1 | c.254C>T (p.Ala85Val) | gnomAD v4 |
X | g.120626913G>C | CA414209666 | C1GALT1C1 | c.254C>G (p.Ala85Gly) | |
X | g.120626913G>T | CA414209668 | C1GALT1C1 | c.254C>A (p.Ala85Glu) | |
X | g.120626914C>A | CA414209670 | C1GALT1C1 | c.253G>T (p.Ala85Ser) | |
X | g.120626914C>G | CA414209672 | C1GALT1C1 | c.253G>C (p.Ala85Pro) | |
X | g.120626914C>T | CA414209673 | C1GALT1C1 | c.253G>A (p.Ala85Thr) | |
X | g.120626915A>C | CA518448355 | C1GALT1C1 | c.252T>G (p.Ala84=) | |
X | g.120626915A>G | CA518448357 | C1GALT1C1 | c.252T>C (p.Ala84=) | |
X | g.120626915A>T | CA518448358 | C1GALT1C1 | c.252T>A (p.Ala84=) | |
X | g.120626916G>A | CA10505979 | C1GALT1C1 | c.251C>T (p.Ala84Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626916G>C | CA414209677 | C1GALT1C1 | c.251C>G (p.Ala84Gly) | |
X | g.120626916G= | CA2454930916 | C1GALT1C1 | c.251C= (p.Ala84=) | |
X | g.120626916G>T | CA414209675 | C1GALT1C1 | c.251C>A (p.Ala84Asp) | |
X | g.120626917C>A | CA414209682 | C1GALT1C1 | c.250G>T (p.Ala84Ser) | |
X | g.120626917C>G | CA414209685 | C1GALT1C1 | c.250G>C (p.Ala84Pro) | |
X | g.120626917C>T | CA414209684 | C1GALT1C1 | c.250G>A (p.Ala84Thr) | |
X | g.120626918C>A | CA414209687 | C1GALT1C1 | c.249G>T (p.Trp83Cys) | |
X | g.120626918C>G | CA414209689 | C1GALT1C1 | c.249G>C (p.Trp83Cys) | |
X | g.120626918C>T | CA414209691 | C1GALT1C1 | c.249G>A (p.Trp83Ter) | |
X | g.120626919C>A | CA414209693 | C1GALT1C1 | c.248G>T (p.Trp83Leu) | |
X | g.120626919C>G | CA414209695 | C1GALT1C1 | c.248G>C (p.Trp83Ser) | |
X | g.120626919C>T | CA414209697 | C1GALT1C1 | c.248G>A (p.Trp83Ter) | |
X | g.120626920A>C | CA414209700 | C1GALT1C1 | c.247T>G (p.Trp83Gly) | |
X | g.120626920A>G | CA414209702 | C1GALT1C1 | c.247T>C (p.Trp83Arg) | |
X | g.120626920A>T | CA414209704 | C1GALT1C1 | c.247T>A (p.Trp83Arg) | |
X | g.120626921A>C | CA518448364 | C1GALT1C1 | c.246T>G (p.Leu82=) | |
X | g.120626921A>G | CA518448365 | C1GALT1C1 | c.246T>C (p.Leu82=) | |
X | g.120626921A>T | CA518448366 | C1GALT1C1 | c.246T>A (p.Leu82=) | |
X | g.120626922A= | CA2454930918 | C1GALT1C1 | c.245T= (p.Leu82=) | |
X | g.120626922A>C | CA414209707 | C1GALT1C1 | c.245T>G (p.Leu82Arg) | |
X | g.120626922A>G | CA414209709 | C1GALT1C1 | c.245T>C (p.Leu82Pro) | dbSNP gnomAD v3 gnomAD v4 |
X | g.120626922A>T | CA414209711 | C1GALT1C1 | c.245T>A (p.Leu82His) | |
X | g.120626923G>A | CA414209717 | C1GALT1C1 | c.244C>T (p.Leu82Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.120626923G>C | CA414209714 | C1GALT1C1 | c.244C>G (p.Leu82Val) | |
X | g.120626923G= | CA2454930920 | C1GALT1C1 | c.244C= (p.Leu82=) | |
X | g.120626923G>T | CA414209716 | C1GALT1C1 | c.244C>A (p.Leu82Ile) | COSMIC |
X | g.120626924A>C | CA414209721 | C1GALT1C1 | c.243T>G (p.Ser81Arg) | |
X | g.120626924A>G | CA518448369 | C1GALT1C1 | c.243T>C (p.Ser81=) | |
X | g.120626924A>T | CA414209723 | C1GALT1C1 | c.243T>A (p.Ser81Arg) | |
X | g.120626925C>A | CA414209725 | C1GALT1C1 | c.242G>T (p.Ser81Ile) | |
X | g.120626925C>G | CA414209727 | C1GALT1C1 | c.242G>C (p.Ser81Thr) | |
X | g.120626925C>T | CA414209729 | C1GALT1C1 | c.242G>A (p.Ser81Asn) | gnomAD v4 |
X | g.120626926T>A | CA414209732 | C1GALT1C1 | c.241A>T (p.Ser81Cys) | |
X | g.120626926T>C | CA414209734 | C1GALT1C1 | c.241A>G (p.Ser81Gly) | gnomAD v4 |
X | g.120626926T>G | CA414209736 | C1GALT1C1 | c.241A>C (p.Ser81Arg) | |
X | g.120626927C>A | CA518448374 | C1GALT1C1 | c.240G>T (p.Val80=) | |
X | g.120626927C>G | CA518448372 | C1GALT1C1 | c.240G>C (p.Val80=) | |
X | g.120626927C>T | CA518448371 | C1GALT1C1 | c.240G>A (p.Val80=) | |
X | g.120626928A>C | CA414209739 | C1GALT1C1 | c.239T>G (p.Val80Gly) | |
X | g.120626928A>G | CA414209741 | C1GALT1C1 | c.239T>C (p.Val80Ala) | |
X | g.120626928A>T | CA414209744 | C1GALT1C1 | c.239T>A (p.Val80Glu) | |
X | g.120626929C>A | CA414209751 | C1GALT1C1 | c.238G>T (p.Val80Leu) | |
X | g.120626929C>G | CA414209749 | C1GALT1C1 | c.238G>C (p.Val80Leu) | |
X | g.120626929C>T | CA414209747 | C1GALT1C1 | c.238G>A (p.Val80Met) | |
X | g.120626930A>C | CA414209753 | C1GALT1C1 | c.237T>G (p.Asp79Glu) | |
X | g.120626930A>G | CA518448380 | C1GALT1C1 | c.237T>C (p.Asp79=) | |
X | g.120626930A>T | CA414209755 | C1GALT1C1 | c.237T>A (p.Asp79Glu) | |
X | g.120626931T>A | CA414209758 | C1GALT1C1 | c.236A>T (p.Asp79Val) | |
X | g.120626931T>C | CA414209760 | C1GALT1C1 | c.236A>G (p.Asp79Gly) | |
X | g.120626931T>G | CA414209762 | C1GALT1C1 | c.236A>C (p.Asp79Ala) | |
X | g.120626932C>A | CA414209764 | C1GALT1C1 | c.235G>T (p.Asp79Tyr) | COSMIC |
X | g.120626932C>G | CA414209766 | C1GALT1C1 | c.235G>C (p.Asp79His) | |
X | g.120626932C>T | CA414209768 | C1GALT1C1 | c.235G>A (p.Asp79Asn) | |
X | g.120626933T>A | CA414209771 | C1GALT1C1 | c.234A>T (p.Lys78Asn) | |
X | g.120626933T>C | CA518448382 | C1GALT1C1 | c.234A>G (p.Lys78=) | |
X | g.120626933T>G | CA414209774 | C1GALT1C1 | c.234A>C (p.Lys78Asn) | |
X | g.120626934T>A | CA414209777 | C1GALT1C1 | c.233A>T (p.Lys78Ile) | |
X | g.120626934T>C | CA414209778 | C1GALT1C1 | c.233A>G (p.Lys78Arg) | |
X | g.120626934T>G | CA414209780 | C1GALT1C1 | c.233A>C (p.Lys78Thr) | |
X | g.120626935T>A | CA414209787 | C1GALT1C1 | c.232A>T (p.Lys78Ter) | |
X | g.120626935T>C | CA414209783 | C1GALT1C1 | c.232A>G (p.Lys78Glu) | |
X | g.120626935T>G | CA414209785 | C1GALT1C1 | c.232A>C (p.Lys78Gln) | |
X | g.120626936G>A | CA518448393 | C1GALT1C1 | c.231C>T (p.Pro77=) | |
X | g.120626936G>C | CA518448394 | C1GALT1C1 | c.231C>G (p.Pro77=) | |
X | g.120626936G= | CA2454930922 | C1GALT1C1 | c.231C= (p.Pro77=) | |
X | g.120626936G>T | CA10505980 | C1GALT1C1 | c.231C>A (p.Pro77=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626937G>A | CA414209792 | C1GALT1C1 | c.230C>T (p.Pro77Leu) | |
X | g.120626937G>C | CA414209794 | C1GALT1C1 | c.230C>G (p.Pro77Arg) | |
X | g.120626937G>T | CA414209795 | C1GALT1C1 | c.230C>A (p.Pro77His) | |
X | g.120626938G>A | CA414209798 | C1GALT1C1 | c.229C>T (p.Pro77Ser) | |
X | g.120626938G>C | CA414209800 | C1GALT1C1 | c.229C>G (p.Pro77Ala) | |
X | g.120626938G>T | CA414209802 | C1GALT1C1 | c.229C>A (p.Pro77Thr) | |
X | g.120626939T>A | CA414209804 | C1GALT1C1 | c.228A>T (p.Lys76Asn) | |
X | g.120626939T>C | CA518448397 | C1GALT1C1 | c.228A>G (p.Lys76=) | |
X | g.120626939T>G | CA10505981 | C1GALT1C1 | c.228A>C (p.Lys76Asn) | dbSNP ExAC |
X | g.120626939T= | CA2454930924 | C1GALT1C1 | c.228A= (p.Lys76=) | |
X | g.120626940T>A | CA414209808 | C1GALT1C1 | c.227A>T (p.Lys76Ile) | |
X | g.120626940T>C | CA414209810 | C1GALT1C1 | c.227A>G (p.Lys76Arg) | |
X | g.120626940T>G | CA414209812 | C1GALT1C1 | c.227A>C (p.Lys76Thr) | |
X | g.120626941T>A | CA414209820 | C1GALT1C1 | c.226A>T (p.Lys76Ter) | |
X | g.120626941T>C | CA414209817 | C1GALT1C1 | c.226A>G (p.Lys76Glu) | |
X | g.120626941T>G | CA414209816 | C1GALT1C1 | c.226A>C (p.Lys76Gln) | |
X | g.120626942T>A | CA518448400 | C1GALT1C1 | c.225A>T (p.Val75=) | |
X | g.120626942T>C | CA518448402 | C1GALT1C1 | c.225A>G (p.Val75=) | gnomAD v4 |
X | g.120626942T>G | CA518448403 | C1GALT1C1 | c.225A>C (p.Val75=) | |
X | g.120626943A>C | CA414209823 | C1GALT1C1 | c.224T>G (p.Val75Gly) | |
X | g.120626943A>G | CA414209827 | C1GALT1C1 | c.224T>C (p.Val75Ala) | |
X | g.120626943A>T | CA414209825 | C1GALT1C1 | c.224T>A (p.Val75Glu) | |
X | g.120626944C>A | CA414209830 | C1GALT1C1 | c.223G>T (p.Val75Leu) | |
X | g.120626944C>G | CA414209834 | C1GALT1C1 | c.223G>C (p.Val75Leu) | |
X | g.120626944C>T | CA414209832 | C1GALT1C1 | c.223G>A (p.Val75Ile) | |
X | g.120626945A>C | CA518448407 | C1GALT1C1 | c.222T>G (p.Leu74=) | |
X | g.120626945A>G | CA518448408 | C1GALT1C1 | c.222T>C (p.Leu74=) | |
X | g.120626945A>T | CA518448409 | C1GALT1C1 | c.222T>A (p.Leu74=) | |
X | g.120626946A>C | CA414209837 | C1GALT1C1 | c.221T>G (p.Leu74Arg) | |
X | g.120626946A>G | CA414209839 | C1GALT1C1 | c.221T>C (p.Leu74Pro) | |
X | g.120626946A>T | CA414209841 | C1GALT1C1 | c.221T>A (p.Leu74His) | |
X | g.120626947G>A | CA414209844 | C1GALT1C1 | c.220C>T (p.Leu74Phe) | gnomAD v4 |
X | g.120626947G>C | CA414209846 | C1GALT1C1 | c.220C>G (p.Leu74Val) | |
X | g.120626947G= | CA2454930926 | C1GALT1C1 | c.220C= (p.Leu74=) | |
X | g.120626947G>T | CA10505982 | C1GALT1C1 | c.220C>A (p.Leu74Ile) | dbSNP ExAC gnomAD v2 |
X | g.120626948G>A | CA518448414 | C1GALT1C1 | c.219C>T (p.Ile73=) | |
X | g.120626948G>C | CA414209851 | C1GALT1C1 | c.219C>G (p.Ile73Met) | |
X | g.120626948G>T | CA518448417 | C1GALT1C1 | c.219C>A (p.Ile73=) | gnomAD v4 |
X | g.120626949A>C | CA414209858 | C1GALT1C1 | c.218T>G (p.Ile73Ser) | |
X | g.120626949A>G | CA414209853 | C1GALT1C1 | c.218T>C (p.Ile73Thr) | |
X | g.120626949A>T | CA414209856 | C1GALT1C1 | c.218T>A (p.Ile73Asn) | |
X | g.120626950T>A | CA414209861 | C1GALT1C1 | c.217A>T (p.Ile73Phe) | |
X | g.120626950T>C | CA414209862 | C1GALT1C1 | c.217A>G (p.Ile73Val) | |
X | g.120626950T>G | CA414209864 | C1GALT1C1 | c.217A>C (p.Ile73Leu) | |
X | g.120626951A= | CA2454930929 | C1GALT1C1 | c.216T= (p.Ile72=) | |
X | g.120626951A>C | CA414209866 | C1GALT1C1 | c.216T>G (p.Ile72Met) | |
X | g.120626951A>G | CA10505983 | C1GALT1C1 | c.216T>C (p.Ile72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626951A>T | CA518448418 | C1GALT1C1 | c.216T>A (p.Ile72=) | |
X | g.120626952A>C | CA414209870 | C1GALT1C1 | c.215T>G (p.Ile72Ser) | |
X | g.120626952A>G | CA414209873 | C1GALT1C1 | c.215T>C (p.Ile72Thr) | COSMIC |
X | g.120626952A>T | CA414209871 | C1GALT1C1 | c.215T>A (p.Ile72Asn) | |
X | g.120626953T>A | CA414209876 | C1GALT1C1 | c.214A>T (p.Ile72Phe) | |
X | g.120626953T>C | CA414209879 | C1GALT1C1 | c.214A>G (p.Ile72Val) | |
X | g.120626953T>G | CA414209881 | C1GALT1C1 | c.214A>C (p.Ile72Leu) | |
X | g.120626954A>C | CA414209883 | C1GALT1C1 | c.213T>G (p.Cys71Trp) | |
X | g.120626954A>G | CA518448423 | C1GALT1C1 | c.213T>C (p.Cys71=) | |
X | g.120626954A>T | CA414209884 | C1GALT1C1 | c.213T>A (p.Cys71Ter) | |
X | g.120626955C>A | CA414209888 | C1GALT1C1 | c.212G>T (p.Cys71Phe) | |
X | g.120626955C>G | CA414209890 | C1GALT1C1 | c.212G>C (p.Cys71Ser) | |
X | g.120626955C>T | CA414209892 | C1GALT1C1 | c.212G>A (p.Cys71Tyr) | |
X | g.120626956A>C | CA414209894 | C1GALT1C1 | c.211T>G (p.Cys71Gly) | |
X | g.120626956A>G | CA414209897 | C1GALT1C1 | c.211T>C (p.Cys71Arg) | |
X | g.120626956A>T | CA414209899 | C1GALT1C1 | c.211T>A (p.Cys71Ser) | |
X | g.120626957G>A | CA10505984 | C1GALT1C1 | c.210C>T (p.Tyr70=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626957G>C | CA414209904 | C1GALT1C1 | c.210C>G (p.Tyr70Ter) | |
X | g.120626957G= | CA2454930932 | C1GALT1C1 | c.210C= (p.Tyr70=) | |
X | g.120626957G>T | CA414209903 | C1GALT1C1 | c.210C>A (p.Tyr70Ter) | |
X | g.120626958T>A | CA414209908 | C1GALT1C1 | c.209A>T (p.Tyr70Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.120626958T>C | CA414209910 | C1GALT1C1 | c.209A>G (p.Tyr70Cys) | |
X | g.120626958T>G | CA414209912 | C1GALT1C1 | c.209A>C (p.Tyr70Ser) | |
X | g.120626958T= | CA2454930934 | C1GALT1C1 | c.209A= (p.Tyr70=) | |
X | g.120626959A= | CA2454930936 | C1GALT1C1 | c.208T= (p.Tyr70=) | |
X | g.120626959A>C | CA414209915 | C1GALT1C1 | c.208T>G (p.Tyr70Asp) | |
X | g.120626959A>G | CA334145039 | C1GALT1C1 | c.208T>C (p.Tyr70His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626959A>T | CA414209918 | C1GALT1C1 | c.208T>A (p.Tyr70Asn) | |
X | g.120626960T>A | CA518448428 | C1GALT1C1 | c.207A>T (p.Val69=) | |
X | g.120626960T>C | CA518448429 | C1GALT1C1 | c.207A>G (p.Val69=) | |
X | g.120626960T>G | CA518448430 | C1GALT1C1 | c.207A>C (p.Val69=) | |
X | g.120626961A>C | CA414209921 | C1GALT1C1 | c.206T>G (p.Val69Gly) | |
X | g.120626961A>G | CA414209923 | C1GALT1C1 | c.206T>C (p.Val69Ala) | |
X | g.120626961A>T | CA414209925 | C1GALT1C1 | c.206T>A (p.Val69Glu) | |
X | g.120626962C>A | CA414209928 | C1GALT1C1 | c.205G>T (p.Val69Leu) | |
X | g.120626962C= | CA2454930938 | C1GALT1C1 | c.205G= (p.Val69=) | |
X | g.120626962C>G | CA414209931 | C1GALT1C1 | c.205G>C (p.Val69Leu) | |
X | g.120626962C>T | CA10505985 | C1GALT1C1 | c.205G>A (p.Val69Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626963T>A | CA518448435 | C1GALT1C1 | c.204A>T (p.Arg68=) | |
X | g.120626963T>C | CA518448437 | C1GALT1C1 | c.204A>G (p.Arg68=) | |
X | g.120626963T>G | CA518448436 | C1GALT1C1 | c.204A>C (p.Arg68=) | |
X | g.120626964C>A | CA414209939 | C1GALT1C1 | c.203G>T (p.Arg68Leu) | |
X | g.120626964C= | CA2454930940 | C1GALT1C1 | c.203G= (p.Arg68=) | |
X | g.120626964C>G | CA414209936 | C1GALT1C1 | c.203G>C (p.Arg68Pro) | |
X | g.120626964C>T | CA10505986 | C1GALT1C1 | c.203G>A (p.Arg68Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.120626965G>A | CA121171 | C1GALT1C1 | c.202C>T (p.Arg68Ter) | ClinVar dbSNP ExAC COSMIC |
X | g.120626965G>C | CA414209943 | C1GALT1C1 | c.202C>G (p.Arg68Gly) | |
X | g.120626965G= | CA2454930943 | C1GALT1C1 | c.202C= (p.Arg68=) | |
X | g.120626965G>T | CA518448438 | C1GALT1C1 | c.202C>A (p.Arg68=) | |
X | g.120626966A>C | CA414209945 | C1GALT1C1 | c.201T>G (p.Phe67Leu) | |
X | g.120626966A>G | CA518448440 | C1GALT1C1 | c.201T>C (p.Phe67=) | |
X | g.120626966A>T | CA414209948 | C1GALT1C1 | c.201T>A (p.Phe67Leu) | |
X | g.120626967A>C | CA414209952 | C1GALT1C1 | c.200T>G (p.Phe67Cys) | |
X | g.120626967A>G | CA414209954 | C1GALT1C1 | c.200T>C (p.Phe67Ser) | |
X | g.120626967A>T | CA414209956 | C1GALT1C1 | c.200T>A (p.Phe67Tyr) | |
X | g.120626968A>C | CA414209958 | C1GALT1C1 | c.199T>G (p.Phe67Val) | |
X | g.120626968A>G | CA414209961 | C1GALT1C1 | c.199T>C (p.Phe67Leu) | |
X | g.120626968A>T | CA414209963 | C1GALT1C1 | c.199T>A (p.Phe67Ile) | |
X | g.120626969G>A | CA10505987 | C1GALT1C1 | c.198C>T (p.Ser66=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120626969G>C | CA414209968 | C1GALT1C1 | c.198C>G (p.Ser66Arg) | |
X | g.120626969G= | CA2454930945 | C1GALT1C1 | c.198C= (p.Ser66=) | |
X | g.120626969G>T | CA414209966 | C1GALT1C1 | c.198C>A (p.Ser66Arg) | |
X | g.120626970C>A | CA414209971 | C1GALT1C1 | c.197G>T (p.Ser66Ile) | |
X | g.120626970C>G | CA414209975 | C1GALT1C1 | c.197G>C (p.Ser66Thr) | |
X | g.120626970C>T | CA414209973 | C1GALT1C1 | c.197G>A (p.Ser66Asn) | |
X | g.120626971T>A | CA414209978 | C1GALT1C1 | c.196A>T (p.Ser66Cys) | |
X | g.120626971T>C | CA414209980 | C1GALT1C1 | c.196A>G (p.Ser66Gly) | |
X | g.120626971T>G | CA414209983 | C1GALT1C1 | c.196A>C (p.Ser66Arg) | |
X | g.120626972C>A | CA414209985 | C1GALT1C1 | c.195G>T (p.Lys65Asn) | |
X | g.120626972C>G | CA414209987 | C1GALT1C1 | c.195G>C (p.Lys65Asn) | |
X | g.120626972C>T | CA518448443 | C1GALT1C1 | c.195G>A (p.Lys65=) | |
X | g.120626973T>A | CA414209990 | C1GALT1C1 | c.194A>T (p.Lys65Met) | |
X | g.120626973T>C | CA414209991 | C1GALT1C1 | c.194A>G (p.Lys65Arg) | |
X | g.120626973T>G | CA414209993 | C1GALT1C1 | c.194A>C (p.Lys65Thr) | |
X | g.120626974del | CA2579693208 | C1GALT1C1 | c.194del (p.Lys65ArgfsTer11) | |
X | g.120626974T>A | CA414209996 | C1GALT1C1 | c.193A>T (p.Lys65Ter) | |
X | g.120626974T>C | CA414209997 | C1GALT1C1 | c.193A>G (p.Lys65Glu) | ClinVar gnomAD v4 |
X | g.120626974T>G | CA414209998 | C1GALT1C1 | c.193A>C (p.Lys65Gln) | |
X | g.120626975A>C | CA414210003 | C1GALT1C1 | c.192T>G (p.Ser64Arg) | |
X | g.120626975A>G | CA518448444 | C1GALT1C1 | c.192T>C (p.Ser64=) | |
X | g.120626975A>T | CA414210001 | C1GALT1C1 | c.192T>A (p.Ser64Arg) | |
X | g.120626976C>A | CA414210006 | C1GALT1C1 | c.191G>T (p.Ser64Ile) | |
X | g.120626976C>G | CA414210007 | C1GALT1C1 | c.191G>C (p.Ser64Thr) | |
X | g.120626976C>T | CA414210009 | C1GALT1C1 | c.191G>A (p.Ser64Asn) | |
X | g.120626977T>A | CA414210012 | C1GALT1C1 | c.190A>T (p.Ser64Cys) | |
X | g.120626977T>C | CA414210014 | C1GALT1C1 | c.190A>G (p.Ser64Gly) | |
X | g.120626977T>G | CA414210017 | C1GALT1C1 | c.190A>C (p.Ser64Arg) | |
X | g.120626978G>A | CA518448447 | C1GALT1C1 | c.189C>T (p.Leu63=) | |
X | g.120626978G>C | CA518448448 | C1GALT1C1 | c.189C>G (p.Leu63=) | |
X | g.120626978G>T | CA518448449 | C1GALT1C1 | c.189C>A (p.Leu63=) | |
X | g.120626979A>C | CA414210020 | C1GALT1C1 | c.188T>G (p.Leu63Arg) | |
X | g.120626979A>G | CA414210022 | C1GALT1C1 | c.188T>C (p.Leu63Pro) | gnomAD v4 |
X | g.120626979A>T | CA414210024 | C1GALT1C1 | c.188T>A (p.Leu63His) | |
X | g.120626980G>A | CA414210027 | C1GALT1C1 | c.187C>T (p.Leu63Phe) | |
X | g.120626980G>C | CA414210028 | C1GALT1C1 | c.187C>G (p.Leu63Val) | |
X | g.120626980G>T | CA414210029 | C1GALT1C1 | c.187C>A (p.Leu63Ile) | |
X | g.120626981C>A | CA414210034 | C1GALT1C1 | c.186G>T (p.Glu62Asp) | |
X | g.120626981C>G | CA414210032 | C1GALT1C1 | c.186G>C (p.Glu62Asp) | |
X | g.120626981C>T | CA518448453 | C1GALT1C1 | c.186G>A (p.Glu62=) | |
X | g.120626982T>A | CA414210037 | C1GALT1C1 | c.185A>T (p.Glu62Val) | |
X | g.120626982T>C | CA414210039 | C1GALT1C1 | c.185A>G (p.Glu62Gly) | |
X | g.120626982T>G | CA414210041 | C1GALT1C1 | c.185A>C (p.Glu62Ala) | |
X | g.120626983C>A | CA414210044 | C1GALT1C1 | c.184G>T (p.Glu62Ter) | |
X | g.120626983C>G | CA414210046 | C1GALT1C1 | c.184G>C (p.Glu62Gln) | |
X | g.120626983C>T | CA414210048 | C1GALT1C1 | c.184G>A (p.Glu62Lys) | |
X | g.120626984C>A | CA414210050 | C1GALT1C1 | c.183G>T (p.Met61Ile) | |
X | g.120626984C>G | CA414210053 | C1GALT1C1 | c.183G>C (p.Met61Ile) | |
X | g.120626984C>T | CA414210055 | C1GALT1C1 | c.183G>A (p.Met61Ile) | |
X | g.120626985A>C | CA414210058 | C1GALT1C1 | c.182T>G (p.Met61Arg) | |
X | g.120626985A>G | CA414210060 | C1GALT1C1 | c.182T>C (p.Met61Thr) | gnomAD v4 |
X | g.120626985A>T | CA414210062 | C1GALT1C1 | c.182T>A (p.Met61Lys) | |
X | g.120626986T>A | CA414210067 | C1GALT1C1 | c.181A>T (p.Met61Leu) | |
X | g.120626986T>C | CA414210069 | C1GALT1C1 | c.181A>G (p.Met61Val) | dbSNP gnomAD v4 |
X | g.120626986T>G | CA414210065 | C1GALT1C1 | c.181A>C (p.Met61Leu) | gnomAD v4 |
X | g.120626986T= | CA2454930947 | C1GALT1C1 | c.181A= (p.Met61=) | |
X | g.120626987G>A | CA518448460 | C1GALT1C1 | c.180C>T (p.Arg60=) | |
X | g.120626987G>C | CA518448461 | C1GALT1C1 | c.180C>G (p.Arg60=) | |
X | g.120626987G>T | CA518448462 | C1GALT1C1 | c.180C>A (p.Arg60=) | gnomAD v4 |
X | g.120626988C>A | CA10505989 | C1GALT1C1 | c.179G>T (p.Arg60Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626988C= | CA2454930949 | C1GALT1C1 | c.179G= (p.Arg60=) | |
X | g.120626988C>G | CA414210073 | C1GALT1C1 | c.179G>C (p.Arg60Pro) | |
X | g.120626988C>T | CA10505988 | C1GALT1C1 | c.179G>A (p.Arg60His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.120626989G>A | CA10505990 | C1GALT1C1 | c.178C>T (p.Arg60Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.120626989G>C | CA414210080 | C1GALT1C1 | c.178C>G (p.Arg60Gly) | |
X | g.120626989G= | CA2454930951 | C1GALT1C1 | c.178C= (p.Arg60=) | |
X | g.120626989G>T | CA414210082 | C1GALT1C1 | c.178C>A (p.Arg60Ser) | |
X | g.120626990C>A | CA414210085 | C1GALT1C1 | c.177G>T (p.Glu59Asp) | |
X | g.120626990C>G | CA414210088 | C1GALT1C1 | c.177G>C (p.Glu59Asp) | |
X | g.120626990C>T | CA518448466 | C1GALT1C1 | c.177G>A (p.Glu59=) | |
X | g.120626991T>A | CA414210090 | C1GALT1C1 | c.176A>T (p.Glu59Val) | |
X | g.120626991T>C | CA414210093 | C1GALT1C1 | c.176A>G (p.Glu59Gly) | |
X | g.120626991T>G | CA414210095 | C1GALT1C1 | c.176A>C (p.Glu59Ala) | |
X | g.120626992C>A | CA414210098 | C1GALT1C1 | c.175G>T (p.Glu59Ter) | |
X | g.120626992C>G | CA414210100 | C1GALT1C1 | c.175G>C (p.Glu59Gln) | |
X | g.120626992C>T | CA414210102 | C1GALT1C1 | c.175G>A (p.Glu59Lys) | gnomAD v4 |
X | g.120626993A>C | CA414210108 | C1GALT1C1 | c.174T>G (p.Asp58Glu) | |
X | g.120626993A>G | CA518448471 | C1GALT1C1 | c.174T>C (p.Asp58=) | |
X | g.120626993A>T | CA414210106 | C1GALT1C1 | c.174T>A (p.Asp58Glu) | gnomAD v4 |
X | g.120626994T>A | CA414210111 | C1GALT1C1 | c.173A>T (p.Asp58Val) | |
X | g.120626994T>C | CA10505991 | C1GALT1C1 | c.173A>G (p.Asp58Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120626994T>G | CA414210113 | C1GALT1C1 | c.173A>C (p.Asp58Ala) | |
X | g.120626994T= | CA2454930954 | C1GALT1C1 | c.173A= (p.Asp58=) | |
X | g.120626995C>A | CA414210116 | C1GALT1C1 | c.172G>T (p.Asp58Tyr) | |
X | g.120626995C>G | CA414210121 | C1GALT1C1 | c.172G>C (p.Asp58His) | |
X | g.120626995C>T | CA414210119 | C1GALT1C1 | c.172G>A (p.Asp58Asn) | |
X | g.120626996C>A | CA414210124 | C1GALT1C1 | c.171G>T (p.Glu57Asp) | |
X | g.120626996C= | CA2454930956 | C1GALT1C1 | c.171G= (p.Glu57=) | |
X | g.120626996C>G | CA414210126 | C1GALT1C1 | c.171G>C (p.Glu57Asp) | |
X | g.120626996C>T | CA518448473 | C1GALT1C1 | c.171G>A (p.Glu57=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.120626997T>A | CA414210128 | C1GALT1C1 | c.170A>T (p.Glu57Val) | |
X | g.120626997T>C | CA414210130 | C1GALT1C1 | c.170A>G (p.Glu57Gly) | |
X | g.120626997T>G | CA414210131 | C1GALT1C1 | c.170A>C (p.Glu57Ala) |