Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.161305808_161309983dup | CA10584071 | ClinVar | ||
1 | g.161307310T>A | CA343350756 | MPZ | c.182A>T (p.Asp61Val) c.-407A>T (n.-407A>T) n.245A>T c.212A>T (p.Asp71Val) | ClinVar |
1 | g.161307310T>C | CA334216 | MPZ | c.182A>G (p.Asp61Gly) c.-407A>G (n.-407A>G) n.245A>G c.212A>G (p.Asp71Gly) | ClinVar dbSNP |
1 | g.161307310T>G | CA343350746 | MPZ | c.182A>C (p.Asp61Ala) c.-407A>C (n.-407A>C) n.245A>C c.212A>C (p.Asp71Ala) | |
1 | g.161307310T= | CA1202690614 | MPZ | c.182A= (p.Asp61=) c.-407A= (n.-407A=) n.245A= c.212A= (p.Asp71=) | |
1 | g.161307311C>A | CA343350768 | MPZ | c.181G>T (p.Asp61Tyr) c.-408G>T (n.-408G>T) n.244G>T c.211G>T (p.Asp71Tyr) | |
1 | g.161307311C= | CA1202690621 | MPZ | c.181G= (p.Asp61=) c.-408G= (n.-408G=) n.244G= c.211G= (p.Asp71=) | |
1 | g.161307311C>G | CA343350773 | MPZ | c.181G>C (p.Asp61His) c.-408G>C (n.-408G>C) n.244G>C c.211G>C (p.Asp71His) | |
1 | g.161307311C>T | CA347381 | MPZ | c.181G>A (p.Asp61Asn) c.-408G>A (n.-408G>A) n.244G>A c.211G>A (p.Asp71Asn) | ClinVar dbSNP |
1 | g.161307311dup | CA2580061345 | MPZ | c.181dup (p.Asp61GlyfsTer30) c.-408dup (n.-408dup) n.244dup c.211dup (p.Asp71GlyfsTer30) | ClinVar |
1 | g.161307312A>C | CA343350774 | MPZ | c.180T>G (p.Asp60Glu) c.-409T>G (n.-409T>G) n.243T>G c.210T>G (p.Asp70Glu) | |
1 | g.161307312A>G | CA421405680 | MPZ | c.180T>C (p.Asp60=) c.-409T>C (n.-409T>C) n.243T>C c.210T>C (p.Asp70=) | |
1 | g.161307312A>T | CA343350776 | MPZ | c.180T>A (p.Asp60Glu) c.-409T>A (n.-409T>A) n.243T>A c.210T>A (p.Asp70Glu) | |
1 | g.161307313T>A | CA343350810 | MPZ | c.179A>T (p.Asp60Val) c.-410A>T (n.-410A>T) n.242A>T c.209A>T (p.Asp70Val) | ClinVar |
1 | g.161307313T>C | CA343350802 | MPZ | c.179A>G (p.Asp60Gly) c.-410A>G (n.-410A>G) n.242A>G c.209A>G (p.Asp70Gly) | gnomAD v4 |
1 | g.161307313T>G | CA343350785 | MPZ | c.179A>C (p.Asp60Ala) c.-410A>C (n.-410A>C) n.242A>C c.209A>C (p.Asp70Ala) | |
1 | g.161307314C>A | CA343350817 | MPZ | c.178G>T (p.Asp60Tyr) c.-411G>T (n.-411G>T) n.241G>T c.208G>T (p.Asp70Tyr) | |
1 | g.161307314C= | CA1141581164 | MPZ | c.178G= (p.Asp60=) c.-411G= (n.-411G=) n.241G= c.208G= (p.Asp70=) | |
1 | g.161307314C>G | CA257168 | MPZ | c.178G>C (p.Asp60His) c.-411G>C (n.-411G>C) n.241G>C c.208G>C (p.Asp70His) | ClinVar dbSNP |
1 | g.161307314C>T | CA343350834 | MPZ | c.178G>A (p.Asp60Asn) c.-411G>A (n.-411G>A) n.241G>A c.208G>A (p.Asp70Asn) | ClinVar |
1 | g.161307315T>A | CA421405681 | MPZ | c.177A>T (p.Ser59=) c.-412A>T (n.-412A>T) n.240A>T c.207A>T (p.Ser69=) | |
1 | g.161307315T>C | CA421405682 | MPZ | c.177A>G (p.Ser59=) c.-412A>G (n.-412A>G) n.240A>G c.207A>G (p.Ser69=) | |
1 | g.161307315T>G | CA421405684 | MPZ | c.177A>C (p.Ser59=) c.-412A>C (n.-412A>C) n.240A>C c.207A>C (p.Ser69=) | |
1 | g.161307315dup | CA2695201651 | MPZ | c.177dup (p.Asp60ArgfsTer2) c.-412dup (n.-412dup) n.240dup c.207dup (p.Asp70ArgfsTer2) | |
1 | g.161307316G>A | CA10584146 | MPZ | c.176C>T (p.Ser59Leu) c.-413C>T (n.-413C>T) n.239C>T c.206C>T (p.Ser69Leu) | ClinVar dbSNP |
1 | g.161307316G>C | CA343350839 | MPZ | c.176C>G (p.Ser59Ter) c.-413C>G (n.-413C>G) n.239C>G c.206C>G (p.Ser69Ter) | |
1 | g.161307316G= | CA1202690633 | MPZ | c.176C= (p.Ser59=) c.-413C= (n.-413C=) n.239C= c.206C= (p.Ser69=) | |
1 | g.161307316G>T | CA343350842 | MPZ | c.176C>A (p.Ser59Ter) c.-413C>A (n.-413C>A) n.239C>A c.206C>A (p.Ser69Ter) | COSMIC |
1 | g.161307317A= | CA1143538441 | MPZ | c.175T= (p.Ser59=) c.-414T= (n.-414T=) n.238T= c.205T= (p.Ser69=) | |
1 | g.161307317A>C | CA343350850 | MPZ | c.175T>G (p.Ser59Ala) c.-414T>G (n.-414T>G) n.238T>G c.205T>G (p.Ser69Ala) | |
1 | g.161307317A>G | CA343350847 | MPZ | c.175T>C (p.Ser59Pro) c.-414T>C (n.-414T>C) n.238T>C c.205T>C (p.Ser69Pro) | |
1 | g.161307317A>T | CA343891 | MPZ | c.175T>A (p.Ser59Thr) c.-414T>A (n.-414T>A) n.238T>A c.205T>A (p.Ser69Thr) | ClinVar dbSNP |
1 | g.161307318G>A | CA1210220 | MPZ | c.174C>T (p.Val58=) c.-415C>T (n.-415C>T) n.237C>T c.204C>T (p.Val68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.161307318G>C | CA421405685 | MPZ | c.174C>G (p.Val58=) c.-415C>G (n.-415C>G) n.237C>G c.204C>G (p.Val68=) | |
1 | g.161307318G= | CA1202690647 | MPZ | c.174C= (p.Val58=) c.-415C= (n.-415C=) n.237C= c.204C= (p.Val68=) | |
1 | g.161307318G>T | CA421405686 | MPZ | c.174C>A (p.Val58=) c.-415C>A (n.-415C>A) n.237C>A c.204C>A (p.Val68=) | |
1 | g.161307319A= | CA1202690654 | MPZ | c.173T= (p.Val58=) c.-416T= (n.-416T=) n.236T= c.203T= (p.Val68=) | |
1 | g.161307319A>C | CA343350865 | MPZ | c.173T>G (p.Val58Gly) c.-416T>G (n.-416T>G) n.236T>G c.203T>G (p.Val68Gly) | |
1 | g.161307319A>G | CA343350858 | MPZ | c.173T>C (p.Val58Ala) c.-416T>C (n.-416T>C) n.236T>C c.203T>C (p.Val68Ala) | |
1 | g.161307319A>T | CA343350862 | MPZ | c.173T>A (p.Val58Asp) c.-416T>A (n.-416T>A) n.236T>A c.203T>A (p.Val68Asp) | ClinVar dbSNP |
1 | g.161307320C>A | CA343350866 | MPZ | c.172G>T (p.Val58Phe) c.-417G>T (n.-417G>T) n.235G>T c.202G>T (p.Val68Phe) | ClinVar dbSNP |
1 | g.161307320C= | CA1202690664 | MPZ | c.172G= (p.Val58=) c.-417G= (n.-417G=) n.235G= c.202G= (p.Val68=) | |
1 | g.161307320C>G | CA343350867 | MPZ | c.172G>C (p.Val58Leu) c.-417G>C (n.-417G>C) n.235G>C c.202G>C (p.Val68Leu) | |
1 | g.161307320C>T | CA343350868 | MPZ | c.172G>A (p.Val58Ile) c.-417G>A (n.-417G>A) n.235G>A c.202G>A (p.Val68Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.161307321C>A | CA343350872 | MPZ | c.171G>T (p.Trp57Cys) c.-418G>T (n.-418G>T) n.234G>T c.201G>T (p.Trp67Cys) | |
1 | g.161307321C>G | CA343350874 | MPZ | c.171G>C (p.Trp57Cys) c.-418G>C (n.-418G>C) n.234G>C c.201G>C (p.Trp67Cys) | |
1 | g.161307321C>T | CA343350878 | MPZ | c.171G>A (p.Trp57Ter) c.-418G>A (n.-418G>A) n.234G>A c.201G>A (p.Trp67Ter) | ClinVar dbSNP |
1 | g.161307321_161307341del | CA2586967672 | MPZ | c.151_171del (p.Ser51_Trp57del) c.-438_-418del (n.-438_-418del) n.214_234del c.181_201del (p.Ser61_Trp67del) | |
1 | g.161307322C>A | CA343350886 | MPZ | c.170G>T (p.Trp57Leu) c.-419G>T (n.-419G>T) n.233G>T c.200G>T (p.Trp67Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161307322C= | CA1202690666 | MPZ | c.170G= (p.Trp57=) c.-419G= (n.-419G=) n.233G= c.200G= (p.Trp67=) |