| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31933876_31933877dup | CA2678069582 | C2 | c.440_441dup (p.Tyr148LeufsTer?) c.257_258dup (p.Tyr87LeufsTer?) c.626_627dup (p.Tyr210LeufsTer?) c.121_122dup (p.Met42LeufsTer2) c.221_222dup (p.Tyr75LeufsTer?) n.429_430dup n.564_565dup c.230_231dup (p.Tyr78LeufsTer?) c.220_221dup c.111+93_111+94dup (n.111+93_111+94dup) c.443-3443_443-3442dup (n.443-3443_443-3442dup) c.*339_*340dup (n.*339_*340dup) c.203_204dup (p.Tyr69LeufsTer?) c.539_540dup (p.Tyr181LeufsTer?) | gnomAD v4 |
| 6 | g.31933876C>A | CA363497024 | C2 | c.440C>A (p.Ser147Tyr) c.257C>A (p.Ser86Tyr) c.626C>A (p.Ser209Tyr) c.121C>A (p.Leu41Ile) c.221C>A (p.Ser74Tyr) n.429C>A n.564C>A c.230C>A (p.Ser77Tyr) c.220C>A c.111+93C>A (n.111+93C>A) c.443-3443C>A (n.443-3443C>A) c.*339C>A (n.*339C>A) c.203C>A (p.Ser68Tyr) c.539C>A (p.Ser180Tyr) | |
| 6 | g.31933876C= | CA1619369902 | C2 | c.440C= (p.Ser147=) c.257C= (p.Ser86=) c.626C= (p.Ser209=) c.121C= (p.Leu41=) c.221C= (p.Ser74=) n.429C= n.564C= c.230C= (p.Ser77=) c.220C= c.111+93C= (n.111+93C=) c.443-3443C= (n.443-3443C=) c.*339C= (n.*339C=) c.203C= (p.Ser68=) c.539C= (p.Ser180=) | |
| 6 | g.31933876C>G | CA3727457 | C2 | c.440C>G (p.Ser147Cys) c.257C>G (p.Ser86Cys) c.626C>G (p.Ser209Cys) c.121C>G (p.Leu41Val) c.221C>G (p.Ser74Cys) n.429C>G n.564C>G c.230C>G (p.Ser77Cys) c.220C>G c.111+93C>G (n.111+93C>G) c.443-3443C>G (n.443-3443C>G) c.*339C>G (n.*339C>G) c.203C>G (p.Ser68Cys) c.539C>G (p.Ser180Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.31933876C>T | CA136929237 | C2 | c.440C>T (p.Ser147Phe) c.257C>T (p.Ser86Phe) c.626C>T (p.Ser209Phe) c.121C>T (p.Leu41Phe) c.221C>T (p.Ser74Phe) n.429C>T n.564C>T c.230C>T (p.Ser77Phe) c.220C>T c.111+93C>T (n.111+93C>T) c.443-3443C>T (n.443-3443C>T) c.*339C>T (n.*339C>T) c.203C>T (p.Ser68Phe) c.539C>T (p.Ser180Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31933877T>A | CA363497031 | C2 | c.441T>A (p.Ser147=) c.258T>A (p.Ser86=) c.627T>A (p.Ser209=) c.122T>A (p.Leu41His) c.222T>A (p.Ser74=) n.430T>A n.565T>A c.231T>A (p.Ser77=) c.221T>A c.111+94T>A (n.111+94T>A) c.443-3442T>A (n.443-3442T>A) c.*340T>A (n.*340T>A) c.204T>A (p.Ser68=) c.540T>A (p.Ser180=) | |
| 6 | g.31933877T>C | CA363497032 | C2 | c.441T>C (p.Ser147=) c.258T>C (p.Ser86=) c.627T>C (p.Ser209=) c.122T>C (p.Leu41Pro) c.222T>C (p.Ser74=) n.430T>C n.565T>C c.231T>C (p.Ser77=) c.221T>C c.111+94T>C (n.111+94T>C) c.443-3442T>C (n.443-3442T>C) c.*340T>C (n.*340T>C) c.204T>C (p.Ser68=) c.540T>C (p.Ser180=) | |
| 6 | g.31933877T>G | CA363497035 | C2 | c.441T>G (p.Ser147=) c.258T>G (p.Ser86=) c.627T>G (p.Ser209=) c.122T>G (p.Leu41Arg) c.222T>G (p.Ser74=) n.430T>G n.565T>G c.231T>G (p.Ser77=) c.221T>G c.111+94T>G (n.111+94T>G) c.443-3442T>G (n.443-3442T>G) c.*340T>G (n.*340T>G) c.204T>G (p.Ser68=) c.540T>G (p.Ser180=) | |
| 6 | g.31933878T>A | CA363497038 | C2 | c.442T>A (p.Tyr148Asn) c.259T>A (p.Tyr87Asn) c.628T>A (p.Tyr210Asn) c.123T>A (p.Leu41=) c.223T>A (p.Tyr75Asn) n.431T>A n.566T>A c.232T>A (p.Tyr78Asn) c.222T>A c.111+95T>A (n.111+95T>A) c.443-3441T>A (n.443-3441T>A) c.*341T>A (n.*341T>A) c.205T>A (p.Tyr69Asn) c.541T>A (p.Tyr181Asn) | |
| 6 | g.31933878T>C | CA363497039 | C2 | c.442T>C (p.Tyr148His) c.259T>C (p.Tyr87His) c.628T>C (p.Tyr210His) c.123T>C (p.Leu41=) c.223T>C (p.Tyr75His) n.431T>C n.566T>C c.232T>C (p.Tyr78His) c.222T>C c.111+95T>C (n.111+95T>C) c.443-3441T>C (n.443-3441T>C) c.*341T>C (n.*341T>C) c.205T>C (p.Tyr69His) c.541T>C (p.Tyr181His) | |
| 6 | g.31933878T>G | CA363497041 | C2 | c.442T>G (p.Tyr148Asp) c.259T>G (p.Tyr87Asp) c.628T>G (p.Tyr210Asp) c.123T>G (p.Leu41=) c.223T>G (p.Tyr75Asp) n.431T>G n.566T>G c.232T>G (p.Tyr78Asp) c.222T>G c.111+95T>G (n.111+95T>G) c.443-3441T>G (n.443-3441T>G) c.*341T>G (n.*341T>G) c.205T>G (p.Tyr69Asp) c.541T>G (p.Tyr181Asp) | |
| 6 | g.31933879A>C | CA363497045 | C2 | c.443A>C (p.Tyr148Ser) c.260A>C (p.Tyr87Ser) c.629A>C (p.Tyr210Ser) c.124A>C (p.Met42Leu) c.224A>C (p.Tyr75Ser) n.432A>C n.567A>C c.233A>C (p.Tyr78Ser) c.223A>C c.111+96A>C (n.111+96A>C) c.443-3440A>C (n.443-3440A>C) c.*342A>C (n.*342A>C) c.206A>C (p.Tyr69Ser) c.542A>C (p.Tyr181Ser) | COSMIC |
| 6 | g.31933879A>G | CA363497048 | C2 | c.443A>G (p.Tyr148Cys) c.260A>G (p.Tyr87Cys) c.629A>G (p.Tyr210Cys) c.124A>G (p.Met42Val) c.224A>G (p.Tyr75Cys) n.432A>G n.567A>G c.233A>G (p.Tyr78Cys) c.223A>G c.111+96A>G (n.111+96A>G) c.443-3440A>G (n.443-3440A>G) c.*342A>G (n.*342A>G) c.206A>G (p.Tyr69Cys) c.542A>G (p.Tyr181Cys) | gnomAD v4 |
| 6 | g.31933879A>T | CA363497049 | C2 | c.443A>T (p.Tyr148Phe) c.260A>T (p.Tyr87Phe) c.629A>T (p.Tyr210Phe) c.124A>T (p.Met42Leu) c.224A>T (p.Tyr75Phe) n.432A>T n.567A>T c.233A>T (p.Tyr78Phe) c.223A>T c.111+96A>T (n.111+96A>T) c.443-3440A>T (n.443-3440A>T) c.*342A>T (n.*342A>T) c.206A>T (p.Tyr69Phe) c.542A>T (p.Tyr181Phe) | |
| 6 | g.31933880T>A | CA363497056 | C2 | c.444T>A (p.Tyr148Ter) c.261T>A (p.Tyr87Ter) c.630T>A (p.Tyr210Ter) c.125T>A (p.Met42Lys) c.225T>A (p.Tyr75Ter) n.433T>A n.568T>A c.234T>A (p.Tyr78Ter) c.224T>A c.111+97T>A (n.111+97T>A) c.443-3439T>A (n.443-3439T>A) c.*343T>A (n.*343T>A) c.207T>A (p.Tyr69Ter) c.543T>A (p.Tyr181Ter) | ClinVar |
| 6 | g.31933880T>C | CA3727458 | C2 | c.444T>C (p.Tyr148=) c.261T>C (p.Tyr87=) c.630T>C (p.Tyr210=) c.125T>C (p.Met42Thr) c.225T>C (p.Tyr75=) n.433T>C n.568T>C c.234T>C (p.Tyr78=) c.224T>C c.111+97T>C (n.111+97T>C) c.443-3439T>C (n.443-3439T>C) c.*343T>C (n.*343T>C) c.207T>C (p.Tyr69=) c.543T>C (p.Tyr181=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.31933880T>G | CA363497052 | C2 | c.444T>G (p.Tyr148Ter) c.261T>G (p.Tyr87Ter) c.630T>G (p.Tyr210Ter) c.125T>G (p.Met42Arg) c.225T>G (p.Tyr75Ter) n.433T>G n.568T>G c.234T>G (p.Tyr78Ter) c.224T>G c.111+97T>G (n.111+97T>G) c.443-3439T>G (n.443-3439T>G) c.*343T>G (n.*343T>G) c.207T>G (p.Tyr69Ter) c.543T>G (p.Tyr181Ter) | |
| 6 | g.31933880T= | CA1619369903 | C2 | c.444T= (p.Tyr148=) c.261T= (p.Tyr87=) c.630T= (p.Tyr210=) c.125T= (p.Met42=) c.225T= (p.Tyr75=) n.433T= n.568T= c.234T= (p.Tyr78=) c.224T= c.111+97T= (n.111+97T=) c.443-3439T= (n.443-3439T=) c.*343T= (n.*343T=) c.207T= (p.Tyr69=) c.543T= (p.Tyr181=) | |
| 6 | g.31933881G>A | CA363497069 | C2 | c.445G>A (p.Asp149Asn) c.262G>A (p.Asp88Asn) c.631G>A (p.Asp211Asn) c.126G>A (p.Met42Ile) c.226G>A (p.Asp76Asn) n.434G>A n.569G>A c.235G>A (p.Asp79Asn) c.225G>A c.111+98G>A (n.111+98G>A) c.443-3438G>A (n.443-3438G>A) c.*344G>A (n.*344G>A) c.208G>A (p.Asp70Asn) c.544G>A (p.Asp182Asn) | |
| 6 | g.31933881G>C | CA363497060 | C2 | c.445G>C (p.Asp149His) c.262G>C (p.Asp88His) c.631G>C (p.Asp211His) c.126G>C (p.Met42Ile) c.226G>C (p.Asp76His) n.434G>C n.569G>C c.235G>C (p.Asp79His) c.225G>C c.111+98G>C (n.111+98G>C) c.443-3438G>C (n.443-3438G>C) c.*344G>C (n.*344G>C) c.208G>C (p.Asp70His) c.544G>C (p.Asp182His) | |
| 6 | g.31933881G>T | CA363497067 | C2 | c.445G>T (p.Asp149Tyr) c.262G>T (p.Asp88Tyr) c.631G>T (p.Asp211Tyr) c.126G>T (p.Met42Ile) c.226G>T (p.Asp76Tyr) n.434G>T n.569G>T c.235G>T (p.Asp79Tyr) c.225G>T c.111+98G>T (n.111+98G>T) c.443-3438G>T (n.443-3438G>T) c.*344G>T (n.*344G>T) c.208G>T (p.Asp70Tyr) c.544G>T (p.Asp182Tyr) | |
| 6 | g.31933882A>C | CA363497072 | C2 | c.446A>C (p.Asp149Ala) c.263A>C (p.Asp88Ala) c.632A>C (p.Asp211Ala) c.127A>C (p.Thr43Pro) c.227A>C (p.Asp76Ala) n.435A>C n.570A>C c.236A>C (p.Asp79Ala) c.226A>C c.111+99A>C (n.111+99A>C) c.443-3437A>C (n.443-3437A>C) c.*345A>C (n.*345A>C) c.209A>C (p.Asp70Ala) c.545A>C (p.Asp182Ala) | |
| 6 | g.31933882A>G | CA363497074 | C2 | c.446A>G (p.Asp149Gly) c.263A>G (p.Asp88Gly) c.632A>G (p.Asp211Gly) c.127A>G (p.Thr43Ala) c.227A>G (p.Asp76Gly) n.435A>G n.570A>G c.236A>G (p.Asp79Gly) c.226A>G c.111+99A>G (n.111+99A>G) c.443-3437A>G (n.443-3437A>G) c.*345A>G (n.*345A>G) c.209A>G (p.Asp70Gly) c.545A>G (p.Asp182Gly) | |
| 6 | g.31933882A>T | CA363497077 | C2 | c.446A>T (p.Asp149Val) c.263A>T (p.Asp88Val) c.632A>T (p.Asp211Val) c.127A>T (p.Thr43Ser) c.227A>T (p.Asp76Val) n.435A>T n.570A>T c.236A>T (p.Asp79Val) c.226A>T c.111+99A>T (n.111+99A>T) c.443-3437A>T (n.443-3437A>T) c.*345A>T (n.*345A>T) c.209A>T (p.Asp70Val) c.545A>T (p.Asp182Val) | |
| 6 | g.31933883C>A | CA363497085 | C2 | c.447C>A (p.Asp149Glu) c.264C>A (p.Asp88Glu) c.633C>A (p.Asp211Glu) c.128C>A (p.Thr43Asn) c.228C>A (p.Asp76Glu) n.436C>A n.571C>A c.237C>A (p.Asp79Glu) c.227C>A c.111+100C>A (n.111+100C>A) c.443-3436C>A (n.443-3436C>A) c.*346C>A (n.*346C>A) c.210C>A (p.Asp70Glu) c.546C>A (p.Asp182Glu) | |
| 6 | g.31933883C>G | CA363497082 | C2 | c.447C>G (p.Asp149Glu) c.264C>G (p.Asp88Glu) c.633C>G (p.Asp211Glu) c.128C>G (p.Thr43Ser) c.228C>G (p.Asp76Glu) n.436C>G n.571C>G c.237C>G (p.Asp79Glu) c.227C>G c.111+100C>G (n.111+100C>G) c.443-3436C>G (n.443-3436C>G) c.*346C>G (n.*346C>G) c.210C>G (p.Asp70Glu) c.546C>G (p.Asp182Glu) | |
| 6 | g.31933883C>T | CA363497079 | C2 | c.447C>T (p.Asp149=) c.264C>T (p.Asp88=) c.633C>T (p.Asp211=) c.128C>T (p.Thr43Ile) c.228C>T (p.Asp76=) n.436C>T n.571C>T c.237C>T (p.Asp79=) c.227C>T c.111+100C>T (n.111+100C>T) c.443-3436C>T (n.443-3436C>T) c.*346C>T (n.*346C>T) c.210C>T (p.Asp70=) c.546C>T (p.Asp182=) | |
| 6 | g.31933884T>A | CA363497088 | C2 | c.448T>A (p.Phe150Ile) c.265T>A (p.Phe89Ile) c.634T>A (p.Phe212Ile) c.129T>A (p.Thr43=) c.229T>A (p.Phe77Ile) n.437T>A n.572T>A c.238T>A (p.Phe80Ile) c.228T>A c.111+101T>A (n.111+101T>A) c.443-3435T>A (n.443-3435T>A) c.*347T>A (n.*347T>A) c.211T>A (p.Phe71Ile) c.547T>A (p.Phe183Ile) | |
| 6 | g.31933884T>C | CA363497091 | C2 | c.448T>C (p.Phe150Leu) c.265T>C (p.Phe89Leu) c.634T>C (p.Phe212Leu) c.129T>C (p.Thr43=) c.229T>C (p.Phe77Leu) n.437T>C n.572T>C c.238T>C (p.Phe80Leu) c.228T>C c.111+101T>C (n.111+101T>C) c.443-3435T>C (n.443-3435T>C) c.*347T>C (n.*347T>C) c.211T>C (p.Phe71Leu) c.547T>C (p.Phe183Leu) | |
| 6 | g.31933884T>G | CA363497093 | C2 | c.448T>G (p.Phe150Val) c.265T>G (p.Phe89Val) c.634T>G (p.Phe212Val) c.129T>G (p.Thr43=) c.229T>G (p.Phe77Val) n.437T>G n.572T>G c.238T>G (p.Phe80Val) c.228T>G c.111+101T>G (n.111+101T>G) c.443-3435T>G (n.443-3435T>G) c.*347T>G (n.*347T>G) c.211T>G (p.Phe71Val) c.547T>G (p.Phe183Val) | |
| 6 | g.31933885T>A | CA363497097 | C2 | c.449T>A (p.Phe150Tyr) c.266T>A (p.Phe89Tyr) c.635T>A (p.Phe212Tyr) c.130T>A (p.Ser44Thr) c.230T>A (p.Phe77Tyr) n.438T>A n.573T>A c.239T>A (p.Phe80Tyr) c.229T>A c.111+102T>A (n.111+102T>A) c.443-3434T>A (n.443-3434T>A) c.*348T>A (n.*348T>A) c.212T>A (p.Phe71Tyr) c.548T>A (p.Phe183Tyr) | |
| 6 | g.31933885T>C | CA363497100 | C2 | c.449T>C (p.Phe150Ser) c.266T>C (p.Phe89Ser) c.635T>C (p.Phe212Ser) c.130T>C (p.Ser44Pro) c.230T>C (p.Phe77Ser) n.438T>C n.573T>C c.239T>C (p.Phe80Ser) c.229T>C c.111+102T>C (n.111+102T>C) c.443-3434T>C (n.443-3434T>C) c.*348T>C (n.*348T>C) c.212T>C (p.Phe71Ser) c.548T>C (p.Phe183Ser) | |
| 6 | g.31933885T>G | CA363497102 | C2 | c.449T>G (p.Phe150Cys) c.266T>G (p.Phe89Cys) c.635T>G (p.Phe212Cys) c.130T>G (p.Ser44Ala) c.230T>G (p.Phe77Cys) n.438T>G n.573T>G c.239T>G (p.Phe80Cys) c.229T>G c.111+102T>G (n.111+102T>G) c.443-3434T>G (n.443-3434T>G) c.*348T>G (n.*348T>G) c.212T>G (p.Phe71Cys) c.548T>G (p.Phe183Cys) | |
| 6 | g.31933886C>A | CA363497107 | C2 | c.450C>A (p.Phe150Leu) c.267C>A (p.Phe89Leu) c.636C>A (p.Phe212Leu) c.131C>A (p.Ser44Tyr) c.231C>A (p.Phe77Leu) n.439C>A n.574C>A c.240C>A (p.Phe80Leu) c.230C>A c.111+103C>A (n.111+103C>A) c.443-3433C>A (n.443-3433C>A) c.*349C>A (n.*349C>A) c.213C>A (p.Phe71Leu) c.549C>A (p.Phe183Leu) | |
| 6 | g.31933886C>G | CA363497111 | C2 | c.450C>G (p.Phe150Leu) c.267C>G (p.Phe89Leu) c.636C>G (p.Phe212Leu) c.131C>G (p.Ser44Cys) c.231C>G (p.Phe77Leu) n.439C>G n.574C>G c.240C>G (p.Phe80Leu) c.230C>G c.111+103C>G (n.111+103C>G) c.443-3433C>G (n.443-3433C>G) c.*349C>G (n.*349C>G) c.213C>G (p.Phe71Leu) c.549C>G (p.Phe183Leu) | |
| 6 | g.31933886C>T | CA363497108 | C2 | c.450C>T (p.Phe150=) c.267C>T (p.Phe89=) c.636C>T (p.Phe212=) c.131C>T (p.Ser44Phe) c.231C>T (p.Phe77=) n.439C>T n.574C>T c.240C>T (p.Phe80=) c.230C>T c.111+103C>T (n.111+103C>T) c.443-3433C>T (n.443-3433C>T) c.*349C>T (n.*349C>T) c.213C>T (p.Phe71=) c.549C>T (p.Phe183=) | |
| 6 | g.31933887C>A | CA3727459 | C2 | c.451C>A (p.Pro151Thr) c.268C>A (p.Pro90Thr) c.637C>A (p.Pro213Thr) c.132C>A (p.Ser44=) c.232C>A (p.Pro78Thr) n.440C>A n.575C>A c.241C>A (p.Pro81Thr) c.231C>A c.111+104C>A (n.111+104C>A) c.443-3432C>A (n.443-3432C>A) c.*350C>A (n.*350C>A) c.214C>A (p.Pro72Thr) c.550C>A (p.Pro184Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31933887C= | CA1619369904 | C2 | c.451C= (p.Pro151=) c.268C= (p.Pro90=) c.637C= (p.Pro213=) c.132C= (p.Ser44=) c.232C= (p.Pro78=) n.440C= n.575C= c.241C= (p.Pro81=) c.231C= c.111+104C= (n.111+104C=) c.443-3432C= (n.443-3432C=) c.*350C= (n.*350C=) c.214C= (p.Pro72=) c.550C= (p.Pro184=) | |
| 6 | g.31933887C>G | CA363497115 | C2 | c.451C>G (p.Pro151Ala) c.268C>G (p.Pro90Ala) c.637C>G (p.Pro213Ala) c.132C>G (p.Ser44=) c.232C>G (p.Pro78Ala) n.440C>G n.575C>G c.241C>G (p.Pro81Ala) c.231C>G c.111+104C>G (n.111+104C>G) c.443-3432C>G (n.443-3432C>G) c.*350C>G (n.*350C>G) c.214C>G (p.Pro72Ala) c.550C>G (p.Pro184Ala) | |
| 6 | g.31933887C>T | CA363497118 | C2 | c.451C>T (p.Pro151Ser) c.268C>T (p.Pro90Ser) c.637C>T (p.Pro213Ser) c.132C>T (p.Ser44=) c.232C>T (p.Pro78Ser) n.440C>T n.575C>T c.241C>T (p.Pro81Ser) c.231C>T c.111+104C>T (n.111+104C>T) c.443-3432C>T (n.443-3432C>T) c.*350C>T (n.*350C>T) c.214C>T (p.Pro72Ser) c.550C>T (p.Pro184Ser) | gnomAD v4 |
| 6 | g.31933888C>A | CA363497121 | C2 | c.452C>A (p.Pro151His) c.269C>A (p.Pro90His) c.638C>A (p.Pro213His) c.133C>A (p.Leu45Met) c.233C>A (p.Pro78His) n.441C>A n.576C>A c.242C>A (p.Pro81His) c.232C>A c.111+105C>A (n.111+105C>A) c.443-3431C>A (n.443-3431C>A) c.*351C>A (n.*351C>A) c.215C>A (p.Pro72His) c.551C>A (p.Pro184His) | |
| 6 | g.31933888C>G | CA363497124 | C2 | c.452C>G (p.Pro151Arg) c.269C>G (p.Pro90Arg) c.638C>G (p.Pro213Arg) c.133C>G (p.Leu45Val) c.233C>G (p.Pro78Arg) n.441C>G n.576C>G c.242C>G (p.Pro81Arg) c.232C>G c.111+105C>G (n.111+105C>G) c.443-3431C>G (n.443-3431C>G) c.*351C>G (n.*351C>G) c.215C>G (p.Pro72Arg) c.551C>G (p.Pro184Arg) | |
| 6 | g.31933888C>T | CA363497125 | C2 | c.452C>T (p.Pro151Leu) c.269C>T (p.Pro90Leu) c.638C>T (p.Pro213Leu) c.133C>T (p.Leu45=) c.233C>T (p.Pro78Leu) n.441C>T n.576C>T c.242C>T (p.Pro81Leu) c.232C>T c.111+105C>T (n.111+105C>T) c.443-3431C>T (n.443-3431C>T) c.*351C>T (n.*351C>T) c.215C>T (p.Pro72Leu) c.551C>T (p.Pro184Leu) | |
| 6 | g.31933889T>A | CA363497129 | C2 | c.453T>A (p.Pro151=) c.270T>A (p.Pro90=) c.639T>A (p.Pro213=) c.134T>A (p.Leu45Gln) c.234T>A (p.Pro78=) n.442T>A n.577T>A c.243T>A (p.Pro81=) c.233T>A c.111+106T>A (n.111+106T>A) c.443-3430T>A (n.443-3430T>A) c.*352T>A (n.*352T>A) c.216T>A (p.Pro72=) c.552T>A (p.Pro184=) | |
| 6 | g.31933889T>C | CA363497131 | C2 | c.453T>C (p.Pro151=) c.270T>C (p.Pro90=) c.639T>C (p.Pro213=) c.134T>C (p.Leu45Pro) c.234T>C (p.Pro78=) n.442T>C n.577T>C c.243T>C (p.Pro81=) c.233T>C c.111+106T>C (n.111+106T>C) c.443-3430T>C (n.443-3430T>C) c.*352T>C (n.*352T>C) c.216T>C (p.Pro72=) c.552T>C (p.Pro184=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31933889T>G | CA363497133 | C2 | c.453T>G (p.Pro151=) c.270T>G (p.Pro90=) c.639T>G (p.Pro213=) c.134T>G (p.Leu45Arg) c.234T>G (p.Pro78=) n.442T>G n.577T>G c.243T>G (p.Pro81=) c.233T>G c.111+106T>G (n.111+106T>G) c.443-3430T>G (n.443-3430T>G) c.*352T>G (n.*352T>G) c.216T>G (p.Pro72=) c.552T>G (p.Pro184=) | |
| 6 | g.31933889T= | CA1619369905 | C2 | c.453T= (p.Pro151=) c.270T= (p.Pro90=) c.639T= (p.Pro213=) c.134T= (p.Leu45=) c.234T= (p.Pro78=) n.442T= n.577T= c.243T= (p.Pro81=) c.233T= c.111+106T= (n.111+106T=) c.443-3430T= (n.443-3430T=) c.*352T= (n.*352T=) c.216T= (p.Pro72=) c.552T= (p.Pro184=) | |
| 6 | g.31933890G>A | CA136929247 | C2 | c.454G>A (p.Glu152Lys) c.271G>A (p.Glu91Lys) c.640G>A (p.Glu214Lys) c.135G>A (p.Leu45=) c.235G>A (p.Glu79Lys) n.443G>A n.578G>A c.244G>A (p.Glu82Lys) c.234G>A c.111+107G>A (n.111+107G>A) c.443-3429G>A (n.443-3429G>A) c.*353G>A (n.*353G>A) c.217G>A (p.Glu73Lys) c.553G>A (p.Glu185Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.31933890G>C | CA363497140 | C2 | c.454G>C (p.Glu152Gln) c.271G>C (p.Glu91Gln) c.640G>C (p.Glu214Gln) c.135G>C (p.Leu45=) c.235G>C (p.Glu79Gln) n.443G>C n.578G>C c.244G>C (p.Glu82Gln) c.234G>C c.111+107G>C (n.111+107G>C) c.443-3429G>C (n.443-3429G>C) c.*353G>C (n.*353G>C) c.217G>C (p.Glu73Gln) c.553G>C (p.Glu185Gln) | dbSNP gnomAD v2 |
| 6 | g.31933890G= | CA1619369906 | C2 | c.454G= (p.Glu152=) c.271G= (p.Glu91=) c.640G= (p.Glu214=) c.135G= (p.Leu45=) c.235G= (p.Glu79=) n.443G= n.578G= c.244G= (p.Glu82=) c.234G= c.111+107G= (n.111+107G=) c.443-3429G= (n.443-3429G=) c.*353G= (n.*353G=) c.217G= (p.Glu73=) c.553G= (p.Glu185=) |