| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161305808_161309983dup | CA10584071 | ClinVar | ||
| 1 | g.161306815del | CA2586967667 | MPZ | c.341del (p.Ile114AsnfsTer4) c.-248del (n.-248del) n.404del c.85del c.371del (p.Ile124AsnfsTer4) | |
| 1 | g.161306815A= | CA1143538433 | MPZ | c.341T= (p.Ile114=) c.-248T= (n.-248T=) n.404T= c.85T= c.371T= (p.Ile124=) | |
| 1 | g.161306815A>C | CA343349262 | MPZ | c.341T>G (p.Ile114Arg) c.-248T>G (n.-248T>G) n.404T>G c.85T>G c.371T>G (p.Ile124Arg) | |
| 1 | g.161306815A>G | CA351444 | MPZ | c.341T>C (p.Ile114Thr) c.-248T>C (n.-248T>C) n.404T>C c.85T>C c.371T>C (p.Ile124Thr) | ClinVar dbSNP |
| 1 | g.161306815A>T | CA343349259 | MPZ | c.341T>A (p.Ile114Lys) c.-248T>A (n.-248T>A) n.404T>A c.85T>A c.371T>A (p.Ile124Lys) | ClinVar |
| 1 | g.161306816T>A | CA343349263 | MPZ | c.340A>T (p.Ile114Leu) c.-249A>T (n.-249A>T) n.403A>T c.84A>T c.370A>T (p.Ile124Leu) | |
| 1 | g.161306816T>C | CA343349265 | MPZ | c.340A>G (p.Ile114Val) c.-249A>G (n.-249A>G) n.403A>G c.84A>G c.370A>G (p.Ile124Val) | |
| 1 | g.161306816T>G | CA343349266 | MPZ | c.340A>C (p.Ile114Leu) c.-249A>C (n.-249A>C) n.403A>C c.84A>C c.370A>C (p.Ile124Leu) | |
| 1 | g.161306817G>A | CA421405180 | MPZ | c.339C>T (p.Val113=) c.-250C>T (n.-250C>T) n.402C>T c.83C>T c.369C>T (p.Val123=) | |
| 1 | g.161306817G>C | CA421405182 | MPZ | c.339C>G (p.Val113=) c.-250C>G (n.-250C>G) n.402C>G c.83C>G c.369C>G (p.Val123=) | |
| 1 | g.161306817G>T | CA421405181 | MPZ | c.339C>A (p.Val113=) c.-250C>A (n.-250C>A) n.402C>A c.83C>A c.369C>A (p.Val123=) | |
| 1 | g.161306818A>C | CA343349269 | MPZ | c.338T>G (p.Val113Gly) c.-251T>G (n.-251T>G) n.401T>G c.82T>G c.368T>G (p.Val123Gly) | |
| 1 | g.161306818A>G | CA343349271 | MPZ | c.338T>C (p.Val113Ala) c.-251T>C (n.-251T>C) n.401T>C c.82T>C c.368T>C (p.Val123Ala) | |
| 1 | g.161306818A>T | CA343349273 | MPZ | c.338T>A (p.Val113Asp) c.-251T>A (n.-251T>A) n.401T>A c.82T>A c.368T>A (p.Val123Asp) | |
| 1 | g.161306819C>A | CA343905 | MPZ | c.337G>T (p.Val113Phe) c.-252G>T (n.-252G>T) n.400G>T c.81G>T c.367G>T (p.Val123Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.[161306819C>A;161306915G>A] | CA356597 | MPZ | c.[241C>T;337G>T] (p.[His81Tyr;Val113Phe]) c.[-348C>T;-252G>T] (n.[-348C>T;-252G>T]) n.[304C>T;400G>T] c.[271C>T;367G>T] (p.[His91Tyr;Val123Phe]) | ClinVar |
| 1 | g.161306819C= | CA1143538434 | MPZ | c.337G= (p.Val113=) c.-252G= (n.-252G=) n.400G= c.81G= c.367G= (p.Val123=) | |
| 1 | g.161306819C>G | CA343349279 | MPZ | c.337G>C (p.Val113Leu) c.-252G>C (n.-252G>C) n.400G>C c.81G>C c.367G>C (p.Val123Leu) | |
| 1 | g.161306819C>T | CA343349276 | MPZ | c.337G>A (p.Val113Ile) c.-252G>A (n.-252G>A) n.400G>A c.81G>A c.367G>A (p.Val123Ile) | |
| 1 | g.161306819_161306823delinsCAATG | CA1202689573 | MPZ | c.333_337delinsCATTG (p.Ser111=) c.-256_-252delinsCATTG (n.-256_-252delinsCATTG) n.396_400delinsCATTG c.77_81delinsCATTG c.363_367delinsCATTG (p.Ser121=) | |
| 1 | g.161306820A>C | CA343349280 | MPZ | c.336T>G (p.Ile112Met) c.-253T>G (n.-253T>G) n.399T>G c.80T>G c.366T>G (p.Ile122Met) | |
| 1 | g.161306820A>G | CA421405187 | MPZ | c.336T>C (p.Ile112=) c.-253T>C (n.-253T>C) n.399T>C c.80T>C c.366T>C (p.Ile122=) | gnomAD v4 |
| 1 | g.161306820A>T | CA421405188 | MPZ | c.336T>A (p.Ile112=) c.-253T>A (n.-253T>A) n.399T>A c.80T>A c.366T>A (p.Ile122=) | gnomAD v3 gnomAD v4 |
| 1 | g.161306820_161306823del | CA916080240 | MPZ | c.333_336del (p.Ile112SerfsTer5) c.-256_-253del (n.-256_-253del) n.396_399del c.77_80del c.363_366del (p.Ile122SerfsTer5) | ClinVar dbSNP |
| 1 | g.161306821A= | CA1202689584 | MPZ | c.335T= (p.Ile112=) c.-254T= (n.-254T=) n.398T= c.79T= c.365T= (p.Ile122=) | |
| 1 | g.161306821A>C | CA343349283 | MPZ | c.335T>G (p.Ile112Ser) c.-254T>G (n.-254T>G) n.398T>G c.79T>G c.365T>G (p.Ile122Ser) | ClinVar dbSNP |
| 1 | g.161306821A>G | CA343349284 | MPZ | c.335T>C (p.Ile112Thr) c.-254T>C (n.-254T>C) n.398T>C c.79T>C c.365T>C (p.Ile122Thr) | ClinVar dbSNP |
| 1 | g.161306821A>T | CA343349286 | MPZ | c.335T>A (p.Ile112Asn) c.-254T>A (n.-254T>A) n.398T>A c.79T>A c.365T>A (p.Ile122Asn) | |
| 1 | g.161306822T>A | CA343349287 | MPZ | c.334A>T (p.Ile112Phe) c.-255A>T (n.-255A>T) n.397A>T c.78A>T c.364A>T (p.Ile122Phe) | |
| 1 | g.161306822T>C | CA343349289 | MPZ | c.334A>G (p.Ile112Val) c.-255A>G (n.-255A>G) n.397A>G c.78A>G c.364A>G (p.Ile122Val) | |
| 1 | g.161306822T>G | CA343349290 | MPZ | c.334A>C (p.Ile112Leu) c.-255A>C (n.-255A>C) n.397A>C c.78A>C c.364A>C (p.Ile122Leu) | |
| 1 | g.161306823G>A | CA421405190 | MPZ | c.333C>T (p.Ser111=) c.-256C>T (n.-256C>T) n.396C>T c.77C>T c.363C>T (p.Ser121=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161306823G>C | CA421405191 | MPZ | c.333C>G (p.Ser111=) c.-256C>G (n.-256C>G) n.396C>G c.77C>G c.363C>G (p.Ser121=) | |
| 1 | g.161306823G>T | CA421405193 | MPZ | c.333C>A (p.Ser111=) c.-256C>A (n.-256C>A) n.396C>A c.77C>A c.363C>A (p.Ser121=) | |
| 1 | g.161306824G>A | CA343349292 | MPZ | c.332C>T (p.Ser111Phe) c.-257C>T (n.-257C>T) n.395C>T c.76C>T c.362C>T (p.Ser121Phe) | ClinVar dbSNP |
| 1 | g.161306824G>C | CA343349293 | MPZ | c.332C>G (p.Ser111Cys) c.-257C>G (n.-257C>G) n.395C>G c.76C>G c.362C>G (p.Ser121Cys) | ClinVar dbSNP |
| 1 | g.161306824G= | CA1202689595 | MPZ | c.332C= (p.Ser111=) c.-257C= (n.-257C=) n.395C= c.76C= c.362C= (p.Ser121=) | |
| 1 | g.161306824G>T | CA343349294 | MPZ | c.332C>A (p.Ser111Tyr) c.-257C>A (n.-257C>A) n.395C>A c.76C>A c.362C>A (p.Ser121Tyr) | ClinVar dbSNP |
| 1 | g.161306825_161306826dup | CA2648773430 | MPZ | c.331_332dup (p.Ile112ProfsTer7) c.-258_-257dup (n.-258_-257dup) n.394_395dup c.75_76dup c.361_362dup (p.Ile122ProfsTer7) | gnomAD v4 |
| 1 | g.161306825A= | CA1202689602 | MPZ | c.331T= (p.Ser111=) c.-258T= (n.-258T=) n.394T= c.75T= c.361T= (p.Ser121=) | |
| 1 | g.161306825A>C | CA343349295 | MPZ | c.331T>G (p.Ser111Ala) c.-258T>G (n.-258T>G) n.394T>G c.75T>G c.361T>G (p.Ser121Ala) | |
| 1 | g.161306825A>G | CA343349296 | MPZ | c.331T>C (p.Ser111Pro) c.-258T>C (n.-258T>C) n.394T>C c.75T>C c.361T>C (p.Ser121Pro) | ClinVar dbSNP |
| 1 | g.161306825A>T | CA343349301 | MPZ | c.331T>A (p.Ser111Thr) c.-258T>A (n.-258T>A) n.394T>A c.75T>A c.361T>A (p.Ser121Thr) | |
| 1 | g.161306826G>A | CA421405199 | MPZ | c.330C>T (p.Gly110=) c.-259C>T (n.-259C>T) n.393C>T c.74C>T c.360C>T (p.Gly120=) | gnomAD v4 |
| 1 | g.161306826G>C | CA421405197 | MPZ | c.330C>G (p.Gly110=) c.-259C>G (n.-259C>G) n.393C>G c.74C>G c.360C>G (p.Gly120=) | |
| 1 | g.161306826G>T | CA421405198 | MPZ | c.330C>A (p.Gly110=) c.-259C>A (n.-259C>A) n.393C>A c.74C>A c.360C>A (p.Gly120=) | |
| 1 | g.161306827C>A | CA343349309 | MPZ | c.329G>T (p.Gly110Val) c.-260G>T (n.-260G>T) n.392G>T c.73G>T c.359G>T (p.Gly120Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.161306827C= | CA1202689603 | MPZ | c.329G= (p.Gly110=) c.-260G= (n.-260G=) n.392G= c.73G= c.359G= (p.Gly120=) | |
| 1 | g.161306827C>G | CA343349306 | MPZ | c.329G>C (p.Gly110Ala) c.-260G>C (n.-260G>C) n.392G>C c.73G>C c.359G>C (p.Gly120Ala) |