UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161305808_161309983dup | CA10584071 | ClinVar | ||
| 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) | |
| 1 | g.161306827C>T | CA343349304 | MPZ | c.329G>A (p.Gly110Asp) c.-260G>A (n.-260G>A) n.392G>A c.73G>A c.359G>A (p.Gly120Asp) | ClinVar dbSNP |
| 1 | g.161306828C>A | CA343349314 | MPZ | c.328G>T (p.Gly110Cys) c.-261G>T (n.-261G>T) n.391G>T c.72G>T c.358G>T (p.Gly120Cys) | |
| 1 | g.161306828C= | CA1202689604 | MPZ | c.328G= (p.Gly110=) c.-261G= (n.-261G=) n.391G= c.72G= c.358G= (p.Gly120=) | |
| 1 | g.161306828C>G | CA343349316 | MPZ | c.328G>C (p.Gly110Arg) c.-261G>C (n.-261G>C) n.391G>C c.72G>C c.358G>C (p.Gly120Arg) | |
| 1 | g.161306828C>T | CA343349318 | MPZ | c.328G>A (p.Gly110Ser) c.-261G>A (n.-261G>A) n.391G>A c.72G>A c.358G>A (p.Gly120Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306829A= | CA1202689605 | MPZ | c.327T= (p.Asp109=) c.-262T= (n.-262T=) n.390T= c.71T= c.357T= (p.Asp119=) | |
| 1 | g.161306829A>C | CA343349321 | MPZ | c.327T>G (p.Asp109Glu) c.-262T>G (n.-262T>G) n.390T>G c.71T>G c.357T>G (p.Asp119Glu) | |
| 1 | g.161306829A>G | CA421405203 | MPZ | c.327T>C (p.Asp109=) c.-262T>C (n.-262T>C) n.390T>C c.71T>C c.357T>C (p.Asp119=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306829A>T | CA343349323 | MPZ | c.327T>A (p.Asp109Glu) c.-262T>A (n.-262T>A) n.390T>A c.71T>A c.357T>A (p.Asp119Glu) | ClinVar dbSNP |
| 1 | g.161306830T>A | CA343349326 | MPZ | c.326A>T (p.Asp109Val) c.-263A>T (n.-263A>T) n.389A>T c.70A>T c.356A>T (p.Asp119Val) | |
| 1 | g.161306830T>C | CA343349329 | MPZ | c.326A>G (p.Asp109Gly) c.-263A>G (n.-263A>G) n.389A>G c.70A>G c.356A>G (p.Asp119Gly) | ClinVar dbSNP |
| 1 | g.161306830T>G | CA343349332 | MPZ | c.326A>C (p.Asp109Ala) c.-263A>C (n.-263A>C) n.389A>C c.70A>C c.356A>C (p.Asp119Ala) | |
| 1 | g.161306830T= | CA1202689606 | MPZ | c.326A= (p.Asp109=) c.-263A= (n.-263A=) n.389A= c.70A= c.356A= (p.Asp119=) | |
| 1 | g.161306831C>A | CA343349336 | MPZ | c.325G>T (p.Asp109Tyr) c.-264G>T (n.-264G>T) n.388G>T c.69G>T c.355G>T (p.Asp119Tyr) | |
| 1 | g.161306831C= | CA1202689615 | MPZ | c.325G= (p.Asp109=) c.-264G= (n.-264G=) n.388G= c.69G= c.355G= (p.Asp119=) | |
| 1 | g.161306831C>G | CA343349338 | MPZ | c.325G>C (p.Asp109His) c.-264G>C (n.-264G>C) n.388G>C c.69G>C c.355G>C (p.Asp119His) | ClinVar dbSNP |
| 1 | g.161306831C>T | CA16609894 | MPZ | c.325G>A (p.Asp109Asn) c.-264G>A (n.-264G>A) n.388G>A c.69G>A c.355G>A (p.Asp119Asn) | ClinVar dbSNP |
| 1 | g.161306832C>A | CA343349343 | MPZ | c.324G>T (p.Lys108Asn) c.-265G>T (n.-265G>T) n.387G>T c.68G>T c.354G>T (p.Lys118Asn) | |
| 1 | g.161306832C= | CA1202689622 | MPZ | c.324G= (p.Lys108=) c.-265G= (n.-265G=) n.387G= c.68G= c.354G= (p.Lys118=) | |
| 1 | g.161306832C>G | CA343349345 | MPZ | c.324G>C (p.Lys108Asn) c.-265G>C (n.-265G>C) n.387G>C c.68G>C c.354G>C (p.Lys118Asn) | |
| 1 | g.161306832C>T | CA421405207 | MPZ | c.324G>A (p.Lys108=) c.-265G>A (n.-265G>A) n.387G>A c.68G>A c.354G>A (p.Lys118=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.161306833T>A | CA343349351 | MPZ | c.323A>T (p.Lys108Met) c.-266A>T (n.-266A>T) n.386A>T c.67A>T c.353A>T (p.Lys118Met) | dbSNP |
| 1 | g.161306833T>C | CA343349356 | MPZ | c.323A>G (p.Lys108Arg) c.-266A>G (n.-266A>G) n.386A>G c.67A>G c.353A>G (p.Lys118Arg) | ClinVar |
| 1 | g.161306833T>G | CA343349349 | MPZ | c.323A>C (p.Lys108Thr) c.-266A>C (n.-266A>C) n.386A>C c.67A>C c.353A>C (p.Lys118Thr) | |
| 1 | g.161306834del | CA2573130608 | MPZ | c.323del (p.Lys108ArgfsTer10) c.-266del (n.-266del) n.386del c.67del c.353del (p.Lys118ArgfsTer10) | ClinVar dbSNP |
| 1 | g.161306834T>A | CA343349360 | MPZ | c.322A>T (p.Lys108Ter) c.-267A>T (n.-267A>T) n.385A>T c.66A>T c.352A>T (p.Lys118Ter) | |
| 1 | g.161306834T>C | CA343349362 | MPZ | c.322A>G (p.Lys108Glu) c.-267A>G (n.-267A>G) n.385A>G c.66A>G c.352A>G (p.Lys118Glu) | ClinVar |
| 1 | g.161306834T>G | CA343349365 | MPZ | c.322A>C (p.Lys108Gln) c.-267A>C (n.-267A>C) n.385A>C c.66A>C c.352A>C (p.Lys118Gln) | |
| 1 | g.161306835C>A | CA343349367 | MPZ | c.321G>T (p.Trp107Cys) c.-268G>T (n.-268G>T) n.384G>T c.65G>T c.351G>T (p.Trp117Cys) | |
| 1 | g.161306835C= | CA1202689625 | MPZ | c.321G= (p.Trp107=) c.-268G= (n.-268G=) n.384G= c.65G= c.351G= (p.Trp117=) | |
| 1 | g.161306835C>G | CA343349371 | MPZ | c.321G>C (p.Trp107Cys) c.-268G>C (n.-268G>C) n.384G>C c.65G>C c.351G>C (p.Trp117Cys) | |
| 1 | g.161306835C>T | CA31668753 | MPZ | c.321G>A (p.Trp107Ter) c.-268G>A (n.-268G>A) n.384G>A c.65G>A c.351G>A (p.Trp117Ter) | dbSNP |
| 1 | g.161306836C>A | CA343349377 | MPZ | c.320G>T (p.Trp107Leu) c.-269G>T (n.-269G>T) n.383G>T c.64G>T c.350G>T (p.Trp117Leu) | |
| 1 | g.161306836C>G | CA343349379 | MPZ | c.320G>C (p.Trp107Ser) c.-269G>C (n.-269G>C) n.383G>C c.64G>C c.350G>C (p.Trp117Ser) | |
| 1 | g.161306836C>T | CA343349381 | MPZ | c.320G>A (p.Trp107Ter) c.-269G>A (n.-269G>A) n.383G>A c.64G>A c.350G>A (p.Trp117Ter) | COSMIC COSMIC |
| 1 | g.161306837A= | CA1202689628 | MPZ | c.319T= (p.Trp107=) c.-270T= (n.-270T=) n.382T= c.63T= c.349T= (p.Trp117=) | |
| 1 | g.161306837A>C | CA31668761 | MPZ | c.319T>G (p.Trp107Gly) c.-270T>G (n.-270T>G) n.382T>G c.63T>G c.349T>G (p.Trp117Gly) | dbSNP |
| 1 | g.161306837A>G | CA343349388 | MPZ | c.319T>C (p.Trp107Arg) c.-270T>C (n.-270T>C) n.382T>C c.63T>C c.349T>C (p.Trp117Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161306837A>T | CA343349390 | MPZ | c.319T>A (p.Trp107Arg) c.-270T>A (n.-270T>A) n.382T>A c.63T>A c.349T>A (p.Trp117Arg) | ClinVar dbSNP |
| 1 | g.161306838G>A | CA421405214 | MPZ | c.318C>T (p.Arg106=) c.-271C>T (n.-271C>T) n.381C>T c.62C>T c.348C>T (p.Arg116=) | |
| 1 | g.161306838G>C | CA421405215 | MPZ | c.318C>G (p.Arg106=) c.-271C>G (n.-271C>G) n.381C>G c.62C>G c.348C>G (p.Arg116=) | |
| 1 | g.161306838G>T | CA421405216 | MPZ | c.318C>A (p.Arg106=) c.-271C>A (n.-271C>A) n.381C>A c.62C>A c.348C>A (p.Arg116=) | |
| 1 | g.161306839C>A | CA343349397 | MPZ | c.317G>T (p.Arg106Leu) c.-272G>T (n.-272G>T) n.380G>T c.61G>T c.347G>T (p.Arg116Leu) | |
| 1 | g.161306839C= | CA1142029141 | MPZ | c.317G= (p.Arg106=) c.-272G= (n.-272G=) n.380G= c.61G= c.347G= (p.Arg116=) | |
| 1 | g.161306839C>G | CA343349393 | MPZ | c.317G>C (p.Arg106Pro) c.-272G>C (n.-272G>C) n.380G>C c.61G>C c.347G>C (p.Arg116Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161306839C>T | CA1210184 | MPZ | c.317G>A (p.Arg106His) c.-272G>A (n.-272G>A) n.380G>A c.61G>A c.347G>A (p.Arg116His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161306840G>A | CA343349401 | MPZ | c.316C>T (p.Arg106Cys) c.-273C>T (n.-273C>T) n.379C>T c.60C>T c.346C>T (p.Arg116Cys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161306840G>C | CA343349406 | MPZ | c.316C>G (p.Arg106Gly) c.-273C>G (n.-273C>G) n.379C>G c.60C>G c.346C>G (p.Arg116Gly) | |
| 1 | g.161306840G= | CA1202689643 | MPZ | c.316C= (p.Arg106=) c.-273C= (n.-273C=) n.379C= c.60C= c.346C= (p.Arg116=) | |
| 1 | g.161306840G>T | CA343349408 | MPZ | c.316C>A (p.Arg106Ser) c.-273C>A (n.-273C>A) n.379C>A c.60C>A c.346C>A (p.Arg116Ser) | dbSNP |
| 1 | g.161306841A>C | CA421405221 | MPZ | c.315T>G (p.Pro105=) c.-274T>G (n.-274T>G) n.378T>G c.59T>G c.345T>G (p.Pro115=) | |
| 1 | g.161306841A>G | CA421405222 | MPZ | c.315T>C (p.Pro105=) c.-274T>C (n.-274T>C) n.378T>C c.59T>C c.345T>C (p.Pro115=) | |
| 1 | g.161306841A>T | CA421405223 | MPZ | c.315T>A (p.Pro105=) c.-274T>A (n.-274T>A) n.378T>A c.59T>A c.345T>A (p.Pro115=) | |
| 1 | g.161306842G>A | CA334615 | MPZ | c.314C>T (p.Pro105Leu) c.-275C>T (n.-275C>T) n.377C>T c.58C>T c.344C>T (p.Pro115Leu) | ClinVar dbSNP |
| 1 | g.161306842G>C | CA343349413 | MPZ | c.314C>G (p.Pro105Arg) c.-275C>G (n.-275C>G) n.377C>G c.58C>G c.344C>G (p.Pro115Arg) | |
| 1 | g.161306842G= | CA1202689647 | MPZ | c.314C= (p.Pro105=) c.-275C= (n.-275C=) n.377C= c.58C= c.344C= (p.Pro115=) | |
| 1 | g.161306842G>T | CA343349416 | MPZ | c.314C>A (p.Pro105His) c.-275C>A (n.-275C>A) n.377C>A c.58C>A c.344C>A (p.Pro115His) | |
| 1 | g.161306843G>A | CA343349420 | MPZ | c.313C>T (p.Pro105Ser) c.-276C>T (n.-276C>T) n.376C>T c.57C>T c.343C>T (p.Pro115Ser) | ClinVar dbSNP |
| 1 | g.161306843G>C | CA31668784 | MPZ | c.313C>G (p.Pro105Ala) c.-276C>G (n.-276C>G) n.376C>G c.57C>G c.343C>G (p.Pro115Ala) | dbSNP |
| 1 | g.161306843G= | CA1141581163 | MPZ | c.313C= (p.Pro105=) c.-276C= (n.-276C=) n.376C= c.57C= c.343C= (p.Pro115=) | |
| 1 | g.161306843G>T | CA257177 | MPZ | c.313C>A (p.Pro105Thr) c.-276C>A (n.-276C>A) n.376C>A c.57C>A c.343C>A (p.Pro115Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306844G>A | CA421405227 | MPZ | c.312C>T (p.Asp104=) c.-277C>T (n.-277C>T) n.375C>T c.56C>T c.342C>T (p.Asp114=) | |
| 1 | g.161306844G>C | CA343349427 | MPZ | c.312C>G (p.Asp104Glu) c.-277C>G (n.-277C>G) n.375C>G c.56C>G c.342C>G (p.Asp114Glu) | |
| 1 | g.161306844G= | CA1202689659 | MPZ | c.312C= (p.Asp104=) c.-277C= (n.-277C=) n.375C= c.56C= c.342C= (p.Asp114=) | |
| 1 | g.161306844G>T | CA343349430 | MPZ | c.312C>A (p.Asp104Glu) c.-277C>A (n.-277C>A) n.375C>A c.56C>A c.342C>A (p.Asp114Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161306845T>A | CA343349440 | MPZ | c.311A>T (p.Asp104Val) c.-278A>T (n.-278A>T) n.374A>T c.55A>T c.341A>T (p.Asp114Val) | |
| 1 | g.161306845T>C | CA343349437 | MPZ | c.311A>G (p.Asp104Gly) c.-278A>G (n.-278A>G) n.374A>G c.55A>G c.341A>G (p.Asp114Gly) | ClinVar dbSNP |
| 1 | g.161306845T>G | CA343349434 | MPZ | c.311A>C (p.Asp104Ala) c.-278A>C (n.-278A>C) n.374A>C c.55A>C c.341A>C (p.Asp114Ala) | |
| 1 | g.161306845T= | CA1202689662 | MPZ | c.311A= (p.Asp104=) c.-278A= (n.-278A=) n.374A= c.55A= c.341A= (p.Asp114=) | |
| 1 | g.161306845_161306851delinsTCCCCTA | CA1202689663 | MPZ | c.305_311delinsTAGGGGA (p.Val102=) c.-284_-278delinsTAGGGGA (n.-284_-278delinsTAGGGGA) n.368_374delinsTAGGGGA c.49_55delinsTAGGGGA c.335_341delinsTAGGGGA (p.Val112=) | |
| 1 | g.161306846C>A | CA338924 | MPZ | c.310G>T (p.Asp104Tyr) c.-279G>T (n.-279G>T) n.373G>T c.54G>T c.340G>T (p.Asp114Tyr) | ClinVar dbSNP |
| 1 | g.161306846C= | CA1202689669 | MPZ | c.310G= (p.Asp104=) c.-279G= (n.-279G=) n.373G= c.54G= c.340G= (p.Asp114=) | |
| 1 | g.161306846C>G | CA343349448 | MPZ | c.310G>C (p.Asp104His) c.-279G>C (n.-279G>C) n.373G>C c.54G>C c.340G>C (p.Asp114His) | |
| 1 | g.161306846C>T | CA1210185 | MPZ | c.310G>A (p.Asp104Asn) c.-279G>A (n.-279G>A) n.373G>A c.54G>A c.340G>A (p.Asp114Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161306849_161306854del | CA16609903 | MPZ | c.305_310del (p.Val102_Gly103del) c.-284_-279del (n.-284_-279del) n.368_373del c.49_54del c.335_340del (p.Val112_Gly113del) | ClinVar dbSNP |
| 1 | g.161306847C>A | CA421405234 | MPZ | c.309G>T (p.Gly103=) c.-280G>T (n.-280G>T) n.372G>T c.53G>T c.339G>T (p.Gly113=) | ClinVar dbSNP |
| 1 | g.161306847C= | CA1202689681 | MPZ | c.309G= (p.Gly103=) c.-280G= (n.-280G=) n.372G= c.53G= c.339G= (p.Gly113=) | |
| 1 | g.161306847C>G | CA421405235 | MPZ | c.309G>C (p.Gly103=) c.-280G>C (n.-280G>C) n.372G>C c.53G>C c.339G>C (p.Gly113=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306847C>T | CA421405232 | MPZ | c.309G>A (p.Gly103=) c.-280G>A (n.-280G>A) n.372G>A c.53G>A c.339G>A (p.Gly113=) | gnomAD v4 |
| 1 | g.161306848C>A | CA343349452 | MPZ | c.308G>T (p.Gly103Val) c.-281G>T (n.-281G>T) n.371G>T c.52G>T c.338G>T (p.Gly113Val) | |
| 1 | g.161306848C= | CA1141581165 | MPZ | c.308G= (p.Gly103=) c.-281G= (n.-281G=) n.371G= c.52G= c.338G= (p.Gly113=) | |
| 1 | g.161306848C>G | CA343349456 | MPZ | c.308G>C (p.Gly103Ala) c.-281G>C (n.-281G>C) n.371G>C c.52G>C c.338G>C (p.Gly113Ala) | |
| 1 | g.161306848C>T | CA257164 | MPZ | c.308G>A (p.Gly103Glu) c.-281G>A (n.-281G>A) n.371G>A c.52G>A c.338G>A (p.Gly113Glu) | ClinVar dbSNP |
| 1 | g.161306849C>A | CA343349460 | MPZ | c.307G>T (p.Gly103Trp) c.-282G>T (n.-282G>T) n.370G>T c.51G>T c.337G>T (p.Gly113Trp) | ClinVar dbSNP |
| 1 | g.161306849C= | CA1202689696 | MPZ | c.307G= (p.Gly103=) c.-282G= (n.-282G=) n.370G= c.51G= c.337G= (p.Gly113=) | |
| 1 | g.161306849C>G | CA343349462 | MPZ | c.307G>C (p.Gly103Arg) c.-282G>C (n.-282G>C) n.370G>C c.51G>C c.337G>C (p.Gly113Arg) | |
| 1 | g.161306849C>T | CA343349465 | MPZ | c.307G>A (p.Gly103Arg) c.-282G>A (n.-282G>A) n.370G>A c.51G>A c.337G>A (p.Gly113Arg) | |
| 1 | g.161306849_161306850delinsCT | CA1202689694 | MPZ | c.306_307delinsAG (p.Val102=) c.-283_-282delinsAG (n.-283_-282delinsAG) n.369_370delinsAG c.50_51delinsAG c.336_337delinsAG (p.Val112=) | |
| 1 | g.161306850del | CA343903 | MPZ | c.306del (p.Asp104ThrfsTer14) c.-283del (n.-283del) n.369del c.50del c.336del (p.Asp114ThrfsTer14) | ClinVar dbSNP |
| 1 | g.161306850T>A | CA421405238 | MPZ | c.306A>T (p.Val102=) c.-283A>T (n.-283A>T) n.369A>T c.50A>T c.336A>T (p.Val112=) | |
| 1 | g.161306850T>C | CA421405241 | MPZ | c.306A>G (p.Val102=) c.-283A>G (n.-283A>G) n.369A>G c.50A>G c.336A>G (p.Val112=) | |
| 1 | g.161306850T>G | CA421405240 | MPZ | c.306A>C (p.Val102=) c.-283A>C (n.-283A>C) n.369A>C c.50A>C c.336A>C (p.Val112=) | |
| 1 | g.161306850T= | CA1143538436 | MPZ | c.306A= (p.Val102=) c.-283A= (n.-283A=) n.369A= c.50A= c.336A= (p.Val112=) | |
| 1 | g.161306851A>C | CA343349478 | MPZ | c.305T>G (p.Val102Gly) c.-284T>G (n.-284T>G) n.368T>G c.49T>G c.335T>G (p.Val112Gly) | |
| 1 | g.161306851A>G | CA343349481 | MPZ | c.305T>C (p.Val102Ala) c.-284T>C (n.-284T>C) n.368T>C c.49T>C c.335T>C (p.Val112Ala) | |
| 1 | g.161306851A>T | CA343349484 | MPZ | c.305T>A (p.Val102Glu) c.-284T>A (n.-284T>A) n.368T>A c.49T>A c.335T>A (p.Val112Glu) | ClinVar dbSNP |
| 1 | g.161306851_161306852insG | CA2580061338 | MPZ | c.304_305insC (p.Val102AlafsTer20) c.-285_-284insC (n.-285_-284insC) n.367_368insC c.48_49insC c.334_335insC (p.Val112AlafsTer20) | ClinVar |
| 1 | g.161306852C>A | CA343349490 | MPZ | c.304G>T (p.Val102Leu) c.-285G>T (n.-285G>T) n.367G>T c.48G>T c.334G>T (p.Val112Leu) | |
| 1 | g.161306852C= | CA1202689703 | MPZ | c.304G= (p.Val102=) c.-285G= (n.-285G=) n.367G= c.48G= c.334G= (p.Val112=) | |
| 1 | g.161306852C>G | CA343349493 | MPZ | c.304G>C (p.Val102Leu) c.-285G>C (n.-285G>C) n.367G>C c.48G>C c.334G>C (p.Val112Leu) | |
| 1 | g.161306852C>T | CA31668830 | MPZ | c.304G>A (p.Val102Ile) c.-285G>A (n.-285G>A) n.367G>A c.48G>A c.334G>A (p.Val112Ile) | dbSNP gnomAD v4 |
| 1 | g.161306852_161306854dup | CA2586967668 | MPZ | c.302_304dup (p.Trp101_Val102insGly) c.-287_-285dup (n.-287_-285dup) n.365_367dup c.46_48dup c.332_334dup (p.Trp111_Val112insGly) | |
| 1 | g.161306854del | CA2580617940 | MPZ | c.304del (p.Val102Ter) c.-285del (n.-285del) n.367del c.48del c.334del (p.Val112Ter) | ClinVar |
| 1 | g.161306853C>A | CA343349500 | MPZ | c.303G>T (p.Trp101Cys) c.-286G>T (n.-286G>T) n.366G>T c.47G>T c.333G>T (p.Trp111Cys) | ClinVar dbSNP |
| 1 | g.161306853C= | CA1202689709 | MPZ | c.303G= (p.Trp101=) c.-286G= (n.-286G=) n.366G= c.47G= c.333G= (p.Trp111=) | |
| 1 | g.161306853C>G | CA343349506 | MPZ | c.303G>C (p.Trp101Cys) c.-286G>C (n.-286G>C) n.366G>C c.47G>C c.333G>C (p.Trp111Cys) | ClinVar dbSNP |
| 1 | g.161306853C>T | CA343349510 | MPZ | c.303G>A (p.Trp101Ter) c.-286G>A (n.-286G>A) n.366G>A c.47G>A c.333G>A (p.Trp111Ter) | ClinVar dbSNP |
| 1 | g.161306854C>A | CA343349513 | MPZ | c.302G>T (p.Trp101Leu) c.-287G>T (n.-287G>T) n.365G>T c.46G>T c.332G>T (p.Trp111Leu) | |
| 1 | g.161306854C= | CA1202689716 | MPZ | c.302G= (p.Trp101=) c.-287G= (n.-287G=) n.365G= c.46G= c.332G= (p.Trp111=) | |
| 1 | g.161306854C>G | CA343349516 | MPZ | c.302G>C (p.Trp101Ser) c.-287G>C (n.-287G>C) n.365G>C c.46G>C c.332G>C (p.Trp111Ser) | |
| 1 | g.161306854C>T | CA31668832 | MPZ | c.302G>A (p.Trp101Ter) c.-287G>A (n.-287G>A) n.365G>A c.46G>A c.332G>A (p.Trp111Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161306855A= | CA1202689719 | MPZ | c.301T= (p.Trp101=) c.-288T= (n.-288T=) n.364T= c.45T= c.331T= (p.Trp111=) | |
| 1 | g.161306855A>C | CA343349518 | MPZ | c.301T>G (p.Trp101Gly) c.-288T>G (n.-288T>G) n.364T>G c.45T>G c.331T>G (p.Trp111Gly) | |
| 1 | g.161306855A>G | CA16609892 | MPZ | c.301T>C (p.Trp101Arg) c.-288T>C (n.-288T>C) n.364T>C c.45T>C c.331T>C (p.Trp111Arg) | ClinVar dbSNP |
| 1 | g.161306855A>T | CA343349532 | MPZ | c.301T>A (p.Trp101Arg) c.-288T>A (n.-288T>A) n.364T>A c.45T>A c.331T>A (p.Trp111Arg) | |
| 1 | g.161306855dup | CA2580061339 | MPZ | c.301dup (p.Trp101LeufsTer21) c.-288dup (n.-288dup) n.364dup c.45dup c.331dup (p.Trp111LeufsTer21) | ClinVar gnomAD v4 |
| 1 | g.161306856C>A | CA343349536 | MPZ | c.300G>T (p.Gln100His) c.-289G>T (n.-289G>T) n.363G>T c.44G>T c.330G>T (p.Gln110His) | |
| 1 | g.161306856C= | CA1149053100 | MPZ | c.300G= (p.Gln100=) c.-289G= (n.-289G=) n.363G= c.44G= c.330G= (p.Gln110=) | |
| 1 | g.161306856C>G | CA343349539 | MPZ | c.300G>C (p.Gln100His) c.-289G>C (n.-289G>C) n.363G>C c.44G>C c.330G>C (p.Gln110His) | |
| 1 | g.161306856C>T | CA1210186 | MPZ | c.300G>A (p.Gln100=) c.-289G>A (n.-289G>A) n.363G>A c.44G>A c.330G>A (p.Gln110=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161306857T>A | CA343349549 | MPZ | c.299A>T (p.Gln100Leu) c.-290A>T (n.-290A>T) n.362A>T c.43A>T c.329A>T (p.Gln110Leu) | |
| 1 | g.161306857T>C | CA343349552 | MPZ | c.299A>G (p.Gln100Arg) c.-290A>G (n.-290A>G) n.362A>G c.43A>G c.329A>G (p.Gln110Arg) | COSMIC COSMIC |
| 1 | g.161306857T>G | CA343349554 | MPZ | c.299A>C (p.Gln100Pro) c.-290A>C (n.-290A>C) n.362A>C c.43A>C c.329A>C (p.Gln110Pro) | |
| 1 | g.161306858G>A | CA343349564 | MPZ | c.298C>T (p.Gln100Ter) c.-291C>T (n.-291C>T) n.361C>T c.42C>T c.328C>T (p.Gln110Ter) | ClinVar dbSNP |
| 1 | g.161306858G>C | CA343349561 | MPZ | c.298C>G (p.Gln100Glu) c.-291C>G (n.-291C>G) n.361C>G c.42C>G c.328C>G (p.Gln110Glu) | |
| 1 | g.161306858G= | CA1202689720 | MPZ | c.298C= (p.Gln100=) c.-291C= (n.-291C=) n.361C= c.42C= c.328C= (p.Gln110=) | |
| 1 | g.161306858G>T | CA343349558 | MPZ | c.298C>A (p.Gln100Lys) c.-291C>A (n.-291C>A) n.361C>A c.42C>A c.328C>A (p.Gln110Lys) | |
| 1 | g.161306859G>A | CA421405248 | MPZ | c.297C>T (p.Ile99=) c.-292C>T (n.-292C>T) n.360C>T c.41C>T c.327C>T (p.Ile109=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306859G>C | CA343349567 | MPZ | c.297C>G (p.Ile99Met) c.-292C>G (n.-292C>G) n.360C>G c.41C>G c.327C>G (p.Ile109Met) | |
| 1 | g.161306859G= | CA1202689723 | MPZ | c.297C= (p.Ile99=) c.-292C= (n.-292C=) n.360C= c.41C= c.327C= (p.Ile109=) | |
| 1 | g.161306859G>T | CA1210187 | MPZ | c.297C>A (p.Ile99=) c.-292C>A (n.-292C>A) n.360C>A c.41C>A c.327C>A (p.Ile109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.161306860A= | CA1202689728 | MPZ | c.296T= (p.Ile99=) c.-293T= (n.-293T=) n.359T= c.40T= c.326T= (p.Ile109=) | |
| 1 | g.161306860A>C | CA343349578 | MPZ | c.296T>G (p.Ile99Ser) c.-293T>G (n.-293T>G) n.359T>G c.40T>G c.326T>G (p.Ile109Ser) | |
| 1 | g.161306860A>G | CA343349580 | MPZ | c.296T>C (p.Ile99Thr) c.-293T>C (n.-293T>C) n.359T>C c.40T>C c.326T>C (p.Ile109Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161306860A>T | CA343349583 | MPZ | c.296T>A (p.Ile99Asn) c.-293T>A (n.-293T>A) n.359T>A c.40T>A c.326T>A (p.Ile109Asn) | |
| 1 | g.161306861T>A | CA343349587 | MPZ | c.295A>T (p.Ile99Phe) c.-294A>T (n.-294A>T) n.358A>T c.39A>T c.325A>T (p.Ile109Phe) | |
| 1 | g.161306861T>C | CA343349596 | MPZ | c.295A>G (p.Ile99Val) c.-294A>G (n.-294A>G) n.358A>G c.39A>G c.325A>G (p.Ile109Val) | |
| 1 | g.161306861T>G | CA343349600 | MPZ | c.295A>C (p.Ile99Leu) c.-294A>C (n.-294A>C) n.358A>C c.39A>C c.325A>C (p.Ile109Leu) | ClinVar dbSNP |
| 1 | g.161306862G>A | CA421405255 | MPZ | c.294C>T (p.Arg98=) c.-295C>T (n.-295C>T) n.357C>T c.38C>T c.324C>T (p.Arg108=) | |
| 1 | g.161306862G>C | CA421405256 | MPZ | c.294C>G (p.Arg98=) c.-295C>G (n.-295C>G) n.357C>G c.38C>G c.324C>G (p.Arg108=) | |
| 1 | g.161306862G>T | CA421405257 | MPZ | c.294C>A (p.Arg98=) c.-295C>A (n.-295C>A) n.357C>A c.38C>A c.324C>A (p.Arg108=) | |
| 1 | g.161306862_161306866delinsGCGCT | CA1202689731 | MPZ | c.290_294delinsAGCGC (p.Glu97=) c.-299_-295delinsAGCGC (n.-299_-295delinsAGCGC) n.353_357delinsAGCGC c.34_38delinsAGCGC c.320_324delinsAGCGC (p.Glu107=) | |
| 1 | g.161306863C>A | CA343349605 | MPZ | c.293G>T (p.Arg98Leu) c.-296G>T (n.-296G>T) n.356G>T c.37G>T c.323G>T (p.Arg108Leu) | ClinVar dbSNP |
| 1 | g.161306863C= | CA1141581142 | MPZ | c.293G= (p.Arg98=) c.-296G= (n.-296G=) n.356G= c.37G= c.323G= (p.Arg108=) | |
| 1 | g.161306863C>G | CA257150 | MPZ | c.293G>C (p.Arg98Pro) c.-296G>C (n.-296G>C) n.356G>C c.37G>C c.323G>C (p.Arg108Pro) | ClinVar dbSNP |
| 1 | g.161306863C>T | CA257154 | MPZ | c.293G>A (p.Arg98His) c.-296G>A (n.-296G>A) n.356G>A c.37G>A c.323G>A (p.Arg108His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306864_161306867del | CA915943871 | MPZ | c.290_293del (p.Glu97AlafsTer5) c.-299_-296del (n.-299_-296del) n.353_356del c.34_37del c.320_323del (p.Glu107AlafsTer5) | ClinVar dbSNP |
| 1 | g.161306864G>A | CA257152 | MPZ | c.292C>T (p.Arg98Cys) c.-297C>T (n.-297C>T) n.355C>T c.36C>T c.322C>T (p.Arg108Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.161306864G>C | CA343349614 | MPZ | c.292C>G (p.Arg98Gly) c.-297C>G (n.-297C>G) n.355C>G c.36C>G c.322C>G (p.Arg108Gly) | |
| 1 | g.161306864G= | CA1141581144 | MPZ | c.292C= (p.Arg98=) c.-297C= (n.-297C=) n.355C= c.36C= c.322C= (p.Arg108=) | |
| 1 | g.161306864G>T | CA343349616 | MPZ | c.292C>A (p.Arg98Ser) c.-297C>A (n.-297C>A) n.355C>A c.36C>A c.322C>A (p.Arg108Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161306865C>A | CA343349621 | MPZ | c.291G>T (p.Glu97Asp) c.-298G>T (n.-298G>T) n.354G>T c.35G>T c.321G>T (p.Glu107Asp) | |
| 1 | g.161306865C>G | CA343349625 | MPZ | c.291G>C (p.Glu97Asp) c.-298G>C (n.-298G>C) n.354G>C c.35G>C c.321G>C (p.Glu107Asp) | |
| 1 | g.161306865C>T | CA421405261 | MPZ | c.291G>A (p.Glu97=) c.-298G>A (n.-298G>A) n.354G>A c.35G>A c.321G>A (p.Glu107=) | |
| 1 | g.161306866T>A | CA257172 | MPZ | c.290A>T (p.Glu97Val) c.-299A>T (n.-299A>T) n.353A>T c.34A>T c.320A>T (p.Glu107Val) | ClinVar dbSNP |
| 1 | g.161306866T>C | CA343349633 | MPZ | c.290A>G (p.Glu97Gly) c.-299A>G (n.-299A>G) n.353A>G c.34A>G c.320A>G (p.Glu107Gly) | |
| 1 | g.161306866T>G | CA343349636 | MPZ | c.290A>C (p.Glu97Ala) c.-299A>C (n.-299A>C) n.353A>C c.34A>C c.320A>C (p.Glu107Ala) | |
| 1 | g.161306866T= | CA1141581145 | MPZ | c.290A= (p.Glu97=) c.-299A= (n.-299A=) n.353A= c.34A= c.320A= (p.Glu107=) | |
| 1 | g.161306867C>A | CA343349639 | MPZ | c.289G>T (p.Glu97Ter) c.-300G>T (n.-300G>T) n.352G>T c.33G>T c.319G>T (p.Glu107Ter) | |
| 1 | g.161306867C>G | CA343349642 | MPZ | c.289G>C (p.Glu97Gln) c.-300G>C (n.-300G>C) n.352G>C c.33G>C c.319G>C (p.Glu107Gln) | |
| 1 | g.161306867C>T | CA343349646 | MPZ | c.289G>A (p.Glu97Lys) c.-300G>A (n.-300G>A) n.352G>A c.33G>A c.319G>A (p.Glu107Lys) | |
| 1 | g.161306868T>A | CA343349651 | MPZ | c.288A>T (p.Lys96Asn) c.-301A>T (n.-301A>T) n.351A>T c.32A>T c.318A>T (p.Lys106Asn) | |
| 1 | g.161306868T>C | CA421405263 | MPZ | c.288A>G (p.Lys96=) c.-301A>G (n.-301A>G) n.351A>G c.32A>G c.318A>G (p.Lys106=) | |
| 1 | g.161306868T>G | CA343349655 | MPZ | c.288A>C (p.Lys96Asn) c.-301A>C (n.-301A>C) n.351A>C c.32A>C c.318A>C (p.Lys106Asn) | |
| 1 | g.161306869T>A | CA343349658 | MPZ | c.287A>T (p.Lys96Ile) c.-302A>T (n.-302A>T) n.350A>T c.31A>T c.317A>T (p.Lys106Ile) | |
| 1 | g.161306869T>C | CA343349660 | MPZ | c.287A>G (p.Lys96Arg) c.-302A>G (n.-302A>G) n.350A>G c.31A>G c.317A>G (p.Lys106Arg) | gnomAD v4 |
| 1 | g.161306869T>G | CA343349663 | MPZ | c.287A>C (p.Lys96Thr) c.-302A>C (n.-302A>C) n.350A>C c.31A>C c.317A>C (p.Lys106Thr) | |
| 1 | g.161306870T>A | CA343349672 | MPZ | c.286A>T (p.Lys96Ter) c.-303A>T (n.-303A>T) n.349A>T c.30A>T c.316A>T (p.Lys106Ter) | |
| 1 | g.161306870T>C | CA257142 | MPZ | c.286A>G (p.Lys96Glu) c.-303A>G (n.-303A>G) n.349A>G c.30A>G c.316A>G (p.Lys106Glu) | ClinVar dbSNP |
| 1 | g.161306870T>G | CA343349667 | MPZ | c.286A>C (p.Lys96Gln) c.-303A>C (n.-303A>C) n.349A>C c.30A>C c.316A>C (p.Lys106Gln) | |
| 1 | g.161306870T= | CA1141581146 | MPZ | c.286A= (p.Lys96=) c.-303A= (n.-303A=) n.349A= c.30A= c.316A= (p.Lys106=) | |
| 1 | g.161306871G>A | CA421405267 | MPZ | c.285C>T (p.Phe95=) c.-304C>T (n.-304C>T) n.348C>T c.29C>T c.315C>T (p.Phe105=) | |
| 1 | g.161306871G>C | CA343349676 | MPZ | c.285C>G (p.Phe95Leu) c.-304C>G (n.-304C>G) n.348C>G c.29C>G c.315C>G (p.Phe105Leu) | |
| 1 | g.161306871G>T | CA343349679 | MPZ | c.285C>A (p.Phe95Leu) c.-304C>A (n.-304C>A) n.348C>A c.29C>A c.315C>A (p.Phe105Leu) | |
| 1 | g.161306872A= | CA1202689762 | MPZ | c.284T= (p.Phe95=) c.-305T= (n.-305T=) n.347T= c.28T= c.314T= (p.Phe105=) | |
| 1 | g.161306872A>C | CA343349683 | MPZ | c.284T>G (p.Phe95Cys) c.-305T>G (n.-305T>G) n.347T>G c.28T>G c.314T>G (p.Phe105Cys) | |
| 1 | g.161306872A>G | CA16043801 | MPZ | c.284T>C (p.Phe95Ser) c.-305T>C (n.-305T>C) n.347T>C c.28T>C c.314T>C (p.Phe105Ser) | ClinVar dbSNP |
| 1 | g.161306872A>T | CA343349686 | MPZ | c.284T>A (p.Phe95Tyr) c.-305T>A (n.-305T>A) n.347T>A c.28T>A c.314T>A (p.Phe105Tyr) | |
| 1 | g.161306873A= | CA1202689766 | MPZ | c.283T= (p.Phe95=) c.-306T= (n.-306T=) n.346T= c.27T= c.313T= (p.Phe105=) | |
| 1 | g.161306873A>C | CA343349687 | MPZ | c.283T>G (p.Phe95Val) c.-306T>G (n.-306T>G) n.346T>G c.27T>G c.313T>G (p.Phe105Val) | |
| 1 | g.161306873A>G | CA343349688 | MPZ | c.283T>C (p.Phe95Leu) c.-306T>C (n.-306T>C) n.346T>C c.27T>C c.313T>C (p.Phe105Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161306873A>T | CA343349690 | MPZ | c.283T>A (p.Phe95Ile) c.-306T>A (n.-306T>A) n.346T>A c.27T>A c.313T>A (p.Phe105Ile) | |
| 1 | g.161306874G>A | CA421405269 | MPZ | c.282C>T (p.Thr94=) c.-307C>T (n.-307C>T) n.345C>T c.26C>T c.312C>T (p.Thr104=) | ClinVar |
| 1 | g.161306874G>C | CA421405268 | MPZ | c.282C>G (p.Thr94=) c.-307C>G (n.-307C>G) n.345C>G c.26C>G c.312C>G (p.Thr104=) | |
| 1 | g.161306874G>T | CA421405270 | MPZ | c.282C>A (p.Thr94=) c.-307C>A (n.-307C>A) n.345C>A c.26C>A c.312C>A (p.Thr104=) | |
| 1 | g.161306875G>A | CA343349694 | MPZ | c.281C>T (p.Thr94Ile) c.-308C>T (n.-308C>T) n.344C>T c.25C>T c.311C>T (p.Thr104Ile) | |
| 1 | g.161306875G>C | CA343349697 | MPZ | c.281C>G (p.Thr94Ser) c.-308C>G (n.-308C>G) n.344C>G c.25C>G c.311C>G (p.Thr104Ser) | gnomAD v4 |
| 1 | g.161306875G>T | CA343349700 | MPZ | c.281C>A (p.Thr94Asn) c.-308C>A (n.-308C>A) n.344C>A c.25C>A c.311C>A (p.Thr104Asn) | |
| 1 | g.161306876T>A | CA343349704 | MPZ | c.280A>T (p.Thr94Ser) c.-309A>T (n.-309A>T) n.343A>T c.24A>T c.310A>T (p.Thr104Ser) | |
| 1 | g.161306876T>C | CA343349708 | MPZ | c.280A>G (p.Thr94Ala) c.-309A>G (n.-309A>G) n.343A>G c.24A>G c.310A>G (p.Thr104Ala) | |
| 1 | g.161306876T>G | CA343349709 | MPZ | c.280A>C (p.Thr94Pro) c.-309A>C (n.-309A>C) n.343A>C c.24A>C c.310A>C (p.Thr104Pro) | |
| 1 | g.161306877C>A | CA421405273 | MPZ | c.279G>T (p.Gly93=) c.-310G>T (n.-310G>T) n.342G>T c.23G>T c.309G>T (p.Gly103=) | gnomAD v4 |
| 1 | g.161306877C= | CA1202689773 | MPZ | c.279G= (p.Gly93=) c.-310G= (n.-310G=) n.342G= c.23G= c.309G= (p.Gly103=) | |
| 1 | g.161306877C>G | CA421405272 | MPZ | c.279G>C (p.Gly93=) c.-310G>C (n.-310G>C) n.342G>C c.23G>C c.309G>C (p.Gly103=) | |
| 1 | g.161306877C>T | CA1210188 | MPZ | c.279G>A (p.Gly93=) c.-310G>A (n.-310G>A) n.342G>A c.23G>A c.309G>A (p.Gly103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.161306878C>A | CA343349724 | MPZ | c.278G>T (p.Gly93Val) c.-311G>T (n.-311G>T) n.341G>T c.22G>T c.308G>T (p.Gly103Val) | ClinVar dbSNP |
| 1 | g.161306878C= | CA1202689778 | MPZ | c.278G= (p.Gly93=) c.-311G= (n.-311G=) n.341G= c.22G= c.308G= (p.Gly103=) | |
| 1 | g.161306878C>G | CA343349718 | MPZ | c.278G>C (p.Gly93Ala) c.-311G>C (n.-311G>C) n.341G>C c.22G>C c.308G>C (p.Gly103Ala) | ClinVar dbSNP |
| 1 | g.161306878C>T | CA16609893 | MPZ | c.278G>A (p.Gly93Glu) c.-311G>A (n.-311G>A) n.341G>A c.22G>A c.308G>A (p.Gly103Glu) | ClinVar dbSNP |
| 1 | g.161306879C>A | CA343349728 | MPZ | c.277G>T (p.Gly93Trp) c.-312G>T (n.-312G>T) n.340G>T c.21G>T c.307G>T (p.Gly103Trp) | |
| 1 | g.161306879C= | CA1202689792 | MPZ | c.277G= (p.Gly93=) c.-312G= (n.-312G=) n.340G= c.21G= c.307G= (p.Gly103=) | |
| 1 | g.161306879C>G | CA343349733 | MPZ | c.277G>C (p.Gly93Arg) c.-312G>C (n.-312G>C) n.340G>C c.21G>C c.307G>C (p.Gly103Arg) | ClinVar dbSNP |
| 1 | g.161306879C>T | CA343349737 | MPZ | c.277G>A (p.Gly93Arg) c.-312G>A (n.-312G>A) n.340G>A c.21G>A c.307G>A (p.Gly103Arg) | ClinVar dbSNP |
| 1 | g.161306880C>A | CA421405274 | MPZ | c.276G>T (p.Val92=) c.-313G>T (n.-313G>T) n.339G>T c.20G>T c.306G>T (p.Val102=) | |
| 1 | g.161306880C= | CA1202689800 | MPZ | c.276G= (p.Val92=) c.-313G= (n.-313G=) n.339G= c.20G= c.306G= (p.Val102=) | |
| 1 | g.161306880C>G | CA421405276 | MPZ | c.276G>C (p.Val92=) c.-313G>C (n.-313G>C) n.339G>C c.20G>C c.306G>C (p.Val102=) | |
| 1 | g.161306880C>T | CA421405275 | MPZ | c.276G>A (p.Val92=) c.-313G>A (n.-313G>A) n.339G>A c.20G>A c.306G>A (p.Val102=) | ClinVar dbSNP |
| 1 | g.161306881A= | CA1202689803 | MPZ | c.275T= (p.Val92=) c.-314T= (n.-314T=) n.338T= c.19T= c.305T= (p.Val102=) | |
| 1 | g.161306881A>C | CA343349740 | MPZ | c.275T>G (p.Val92Gly) c.-314T>G (n.-314T>G) n.338T>G c.19T>G c.305T>G (p.Val102Gly) | |
| 1 | g.161306881A>G | CA343349744 | MPZ | c.275T>C (p.Val92Ala) c.-314T>C (n.-314T>C) n.338T>C c.19T>C c.305T>C (p.Val102Ala) | |
| 1 | g.161306881A>T | CA343349748 | MPZ | c.275T>A (p.Val92Glu) c.-314T>A (n.-314T>A) n.338T>A c.19T>A c.305T>A (p.Val102Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.161306882C>A | CA343349752 | MPZ | c.274G>T (p.Val92Leu) c.-315G>T (n.-315G>T) n.337G>T c.18G>T c.304G>T (p.Val102Leu) | |
| 1 | g.161306882C= | CA1143538437 | MPZ | c.274G= (p.Val92=) c.-315G= (n.-315G=) n.337G= c.18G= c.304G= (p.Val102=) | |
| 1 | g.161306882C>G | CA343349756 | MPZ | c.274G>C (p.Val92Leu) c.-315G>C (n.-315G>C) n.337G>C c.18G>C c.304G>C (p.Val102Leu) | |
| 1 | g.161306882C>T | CA351456 | MPZ | c.274G>A (p.Val92Met) c.-315G>A (n.-315G>A) n.337G>A c.18G>A c.304G>A (p.Val102Met) | ClinVar dbSNP |
| 1 | g.161306883C>A | CA343349761 | MPZ | c.273G>T (p.Glu91Asp) c.-316G>T (n.-316G>T) n.336G>T c.17G>T c.303G>T (p.Glu101Asp) | |
| 1 | g.161306883C>G | CA343349763 | MPZ | c.273G>C (p.Glu91Asp) c.-316G>C (n.-316G>C) n.336G>C c.17G>C c.303G>C (p.Glu101Asp) | |
| 1 | g.161306883C>T | CA421405283 | MPZ | c.273G>A (p.Glu91=) c.-316G>A (n.-316G>A) n.336G>A c.17G>A c.303G>A (p.Glu101=) | gnomAD v4 |
| 1 | g.161306884T>A | CA343349771 | MPZ | c.272A>T (p.Glu91Val) c.-317A>T (n.-317A>T) n.335A>T c.16A>T c.302A>T (p.Glu101Val) | |
| 1 | g.161306884T>C | CA343349765 | MPZ | c.272A>G (p.Glu91Gly) c.-317A>G (n.-317A>G) n.335A>G c.16A>G c.302A>G (p.Glu101Gly) | |
| 1 | g.161306884T>G | CA343349764 | MPZ | c.272A>C (p.Glu91Ala) c.-317A>C (n.-317A>C) n.335A>C c.16A>C c.302A>C (p.Glu101Ala) | |
| 1 | g.161306885C>A | CA343349775 | MPZ | c.271G>T (p.Glu91Ter) c.-318G>T (n.-318G>T) n.334G>T c.15G>T c.301G>T (p.Glu101Ter) | COSMIC |
| 1 | g.161306885C= | CA1202689819 | MPZ | c.271G= (p.Glu91=) c.-318G= (n.-318G=) n.334G= c.15G= c.301G= (p.Glu101=) | |
| 1 | g.161306885C>G | CA343349778 | MPZ | c.271G>C (p.Glu91Gln) c.-318G>C (n.-318G>C) n.334G>C c.15G>C c.301G>C (p.Glu101Gln) | |
| 1 | g.161306885C>T | CA343349780 | MPZ | c.271G>A (p.Glu91Lys) c.-318G>A (n.-318G>A) n.334G>A c.15G>A c.301G>A (p.Glu101Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.161306886G>A | CA1210189 | MPZ | c.270C>T (p.Asp90=) c.-319C>T (n.-319C>T) n.333C>T c.14C>T c.300C>T (p.Asp100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161306886G>C | CA343349785 | MPZ | c.270C>G (p.Asp90Glu) c.-319C>G (n.-319C>G) n.333C>G c.14C>G c.300C>G (p.Asp100Glu) | ClinVar dbSNP |
| 1 | g.161306886G= | CA1141581147 | MPZ | c.270C= (p.Asp90=) c.-319C= (n.-319C=) n.333C= c.14C= c.300C= (p.Asp100=) | |
| 1 | g.161306886G>T | CA257144 | MPZ | c.270C>A (p.Asp90Glu) c.-319C>A (n.-319C>A) n.333C>A c.14C>A c.300C>A (p.Asp100Glu) | ClinVar dbSNP |
| 1 | g.161306886_161306890dup | CA658653649 | MPZ | c.266_270dup (p.Glu91LeufsTer14) c.-323_-319dup (n.-323_-319dup) n.329_333dup c.10_14dup c.296_300dup (p.Glu101LeufsTer14) | ClinVar dbSNP |
| 1 | g.161306888_161306893del | CA2695199902 | MPZ | c.265_270del (p.Ile89_Asp90del) c.-324_-319del (n.-324_-319del) n.328_333del c.9_14del c.295_300del (p.Ile99_Asp100del) | ClinVar |
| 1 | g.161306887T>A | CA343349790 | MPZ | c.269A>T (p.Asp90Val) c.-320A>T (n.-320A>T) n.332A>T c.13A>T c.299A>T (p.Asp100Val) | |
| 1 | g.161306887T>C | CA343349791 | MPZ | c.269A>G (p.Asp90Gly) c.-320A>G (n.-320A>G) n.332A>G c.13A>G c.299A>G (p.Asp100Gly) | |
| 1 | g.161306887T>G | CA343349795 | MPZ | c.269A>C (p.Asp90Ala) c.-320A>C (n.-320A>C) n.332A>C c.13A>C c.299A>C (p.Asp100Ala) | |
| 1 | g.161306888C>A | CA343349797 | MPZ | c.268G>T (p.Asp90Tyr) c.-321G>T (n.-321G>T) n.331G>T c.12G>T c.298G>T (p.Asp100Tyr) | |
| 1 | g.161306888C= | CA1202689841 | MPZ | c.268G= (p.Asp90=) c.-321G= (n.-321G=) n.331G= c.12G= c.298G= (p.Asp100=) | |
| 1 | g.161306888C>G | CA343349801 | MPZ | c.268G>C (p.Asp90His) c.-321G>C (n.-321G>C) n.331G>C c.12G>C c.298G>C (p.Asp100His) | |
| 1 | g.161306888C>T | CA343349807 | MPZ | c.268G>A (p.Asp90Asn) c.-321G>A (n.-321G>A) n.331G>A c.12G>A c.298G>A (p.Asp100Asn) | ClinVar dbSNP |
| 1 | g.161306889A>C | CA343349808 | MPZ | c.267T>G (p.Ile89Met) c.-322T>G (n.-322T>G) n.330T>G c.11T>G c.297T>G (p.Ile99Met) | |
| 1 | g.161306889A>G | CA421405286 | MPZ | c.267T>C (p.Ile89=) c.-322T>C (n.-322T>C) n.330T>C c.11T>C c.297T>C (p.Ile99=) | |
| 1 | g.161306889A>T | CA421405287 | MPZ | c.267T>A (p.Ile89=) c.-322T>A (n.-322T>A) n.330T>A c.11T>A c.297T>A (p.Ile99=) | |
| 1 | g.161306890A= | CA1143538438 | MPZ | c.266T= (p.Ile89=) c.-323T= (n.-323T=) n.329T= c.10T= c.296T= (p.Ile99=) | |
| 1 | g.161306890A>C | CA343349820 | MPZ | c.266T>G (p.Ile89Ser) c.-323T>G (n.-323T>G) n.329T>G c.10T>G c.296T>G (p.Ile99Ser) | |
| 1 | g.161306890A>G | CA343900 | MPZ | c.266T>C (p.Ile89Thr) c.-323T>C (n.-323T>C) n.329T>C c.10T>C c.296T>C (p.Ile99Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.161306890A>T | CA351452 | MPZ | c.266T>A (p.Ile89Asn) c.-323T>A (n.-323T>A) n.329T>A c.10T>A c.296T>A (p.Ile99Asn) | ClinVar dbSNP |
| 1 | g.161306890_161306898delinsATGTAGGGT | CA1202689850 | MPZ | c.258_266delinsACCCTACAT (p.Gln86=) c.-331_-323delinsACCCTACAT (n.-331_-323delinsACCCTACAT) n.321_329delinsACCCTACAT c.2_10delinsACCCTACAT c.288_296delinsACCCTACAT (p.Gln96=) | |
| 1 | g.161306891T>A | CA343349825 | MPZ | c.265A>T (p.Ile89Phe) c.-324A>T (n.-324A>T) n.328A>T c.9A>T c.295A>T (p.Ile99Phe) | |
| 1 | g.161306891T>C | CA343349827 | MPZ | c.265A>G (p.Ile89Val) c.-324A>G (n.-324A>G) n.328A>G c.9A>G c.295A>G (p.Ile99Val) | gnomAD v4 |
| 1 | g.161306891T>G | CA343349829 | MPZ | c.265A>C (p.Ile89Leu) c.-324A>C (n.-324A>C) n.328A>C c.9A>C c.295A>C (p.Ile99Leu) | |
| 1 | g.161306891_161306898delinsAGAGG | CA915943872 | MPZ | c.258_265delinsCCTCT (p.Gln86_Ile89delinsHisLeuPhe) c.-331_-324delinsCCTCT (n.-331_-324delinsCCTCT) n.321_328delinsCCTCT c.2_9delinsCCTCT c.288_295delinsCCTCT (p.Gln96_Ile99delinsHisLeuPhe) | ClinVar dbSNP |
| 1 | g.161306892G>A | CA421405292 | MPZ | c.264C>T (p.Tyr88=) c.-325C>T (n.-325C>T) n.327C>T c.8C>T c.294C>T (p.Tyr98=) | |
| 1 | g.161306892G>C | CA343349832 | MPZ | c.264C>G (p.Tyr88Ter) c.-325C>G (n.-325C>G) n.327C>G c.8C>G c.294C>G (p.Tyr98Ter) | |
| 1 | g.161306892G>T | CA343349835 | MPZ | c.264C>A (p.Tyr88Ter) c.-325C>A (n.-325C>A) n.327C>A c.8C>A c.294C>A (p.Tyr98Ter) | |
| 1 | g.161306893T>A | CA343349844 | MPZ | c.263A>T (p.Tyr88Phe) c.-326A>T (n.-326A>T) n.326A>T c.7A>T c.293A>T (p.Tyr98Phe) | dbSNP gnomAD v4 |
| 1 | g.161306893T>C | CA343349847 | MPZ | c.263A>G (p.Tyr88Cys) c.-326A>G (n.-326A>G) n.326A>G c.7A>G c.293A>G (p.Tyr98Cys) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.161306893T>G | CA343349849 | MPZ | c.263A>C (p.Tyr88Ser) c.-326A>C (n.-326A>C) n.326A>C c.7A>C c.293A>C (p.Tyr98Ser) | ClinVar dbSNP |
| 1 | g.161306893T= | CA1202689864 | MPZ | c.263A= (p.Tyr88=) c.-326A= (n.-326A=) n.326A= c.7A= c.293A= (p.Tyr98=) | |
| 1 | g.161306894_161306899dup | CA2580061342 | MPZ | c.258_263dup (p.Tyr88Ter) c.-331_-326dup (n.-331_-326dup) n.321_326dup c.2_7dup c.288_293dup (p.Tyr98Ter) | ClinVar |
| 1 | g.161306894A>C | CA343349852 | MPZ | c.262T>G (p.Tyr88Asp) c.-327T>G (n.-327T>G) n.325T>G c.6T>G c.292T>G (p.Tyr98Asp) | |
| 1 | g.161306894A>G | CA343349853 | MPZ | c.262T>C (p.Tyr88His) c.-327T>C (n.-327T>C) n.325T>C c.6T>C c.292T>C (p.Tyr98His) | |
| 1 | g.161306894A>T | CA343349854 | MPZ | c.262T>A (p.Tyr88Asn) c.-327T>A (n.-327T>A) n.325T>A c.6T>A c.292T>A (p.Tyr98Asn) | ClinVar |
| 1 | g.161306895G>A | CA421405296 | MPZ | c.261C>T (p.Pro87=) c.-328C>T (n.-328C>T) n.324C>T c.5C>T c.291C>T (p.Pro97=) | |
| 1 | g.161306895G>C | CA421405298 | MPZ | c.261C>G (p.Pro87=) c.-328C>G (n.-328C>G) n.324C>G c.5C>G c.291C>G (p.Pro97=) | gnomAD v4 |
| 1 | g.161306895G= | CA1202689870 | MPZ | c.261C= (p.Pro87=) c.-328C= (n.-328C=) n.324C= c.5C= c.291C= (p.Pro97=) | |
| 1 | g.161306895G>T | CA421405297 | MPZ | c.261C>A (p.Pro87=) c.-328C>A (n.-328C>A) n.324C>A c.5C>A c.291C>A (p.Pro97=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.161306896G>A | CA343349861 | MPZ | c.260C>T (p.Pro87Leu) c.-329C>T (n.-329C>T) n.323C>T c.4C>T c.290C>T (p.Pro97Leu) | |
| 1 | g.161306896G>C | CA343349859 | MPZ | c.260C>G (p.Pro87Arg) c.-329C>G (n.-329C>G) n.323C>G c.4C>G c.290C>G (p.Pro97Arg) | |
| 1 | g.161306896G= | CA1202689874 | MPZ | c.260C= (p.Pro87=) c.-329C= (n.-329C=) n.323C= c.4C= c.290C= (p.Pro97=) | |
| 1 | g.161306896G>T | CA343349857 | MPZ | c.260C>A (p.Pro87His) c.-329C>A (n.-329C>A) n.323C>A c.4C>A c.290C>A (p.Pro97His) | ClinVar dbSNP |
| 1 | g.161306897G>A | CA1210190 | MPZ | c.259C>T (p.Pro87Ser) c.-330C>T (n.-330C>T) n.322C>T c.3C>T c.289C>T (p.Pro97Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.161306897G>C | CA343349868 | MPZ | c.259C>G (p.Pro87Ala) c.-330C>G (n.-330C>G) n.322C>G c.3C>G c.289C>G (p.Pro97Ala) | |
| 1 | g.161306897G= | CA1202689880 | MPZ | c.259C= (p.Pro87=) c.-330C= (n.-330C=) n.322C= c.3C= c.289C= (p.Pro97=) | |
| 1 | g.161306897G>T | CA343349866 | MPZ | c.259C>A (p.Pro87Thr) c.-330C>A (n.-330C>A) n.322C>A c.3C>A c.289C>A (p.Pro97Thr) | COSMIC COSMIC |
| 1 | g.161306898T>A | CA343349872 | MPZ | c.258A>T (p.Gln86His) c.-331A>T (n.-331A>T) n.321A>T c.2A>T c.288A>T (p.Gln96His) | |
| 1 | g.161306898T>C | CA421405299 | MPZ | c.258A>G (p.Gln86=) c.-331A>G (n.-331A>G) n.321A>G c.2A>G c.288A>G (p.Gln96=) | COSMIC COSMIC |
| 1 | g.161306898T>G | CA343349875 | MPZ | c.258A>C (p.Gln86His) c.-331A>C (n.-331A>C) n.321A>C c.2A>C c.288A>C (p.Gln96His) | |
| 1 | g.161306899T>A | CA343349883 | MPZ | c.257A>T (p.Gln86Leu) c.-332A>T (n.-332A>T) n.320A>T c.1A>T c.287A>T (p.Gln96Leu) | |
| 1 | g.161306899T>C | CA343349891 | MPZ | c.257A>G (p.Gln86Arg) c.-332A>G (n.-332A>G) n.320A>G c.1A>G c.287A>G (p.Gln96Arg) | |
| 1 | g.161306899T>G | CA343349886 | MPZ | c.257A>C (p.Gln86Pro) c.-332A>C (n.-332A>C) n.320A>C c.1A>C c.287A>C (p.Gln96Pro) | ClinVar dbSNP |
| 1 | g.161306899T= | CA1202689884 | MPZ | c.257A= (p.Gln86=) c.-332A= (n.-332A=) n.320A= c.1A= c.287A= (p.Gln96=) | |
| 1 | g.161306900G>A | CA343349897 | MPZ | c.256C>T (p.Gln86Ter) c.-333C>T (n.-333C>T) n.319C>T c.286C>T (p.Gln96Ter) | ClinVar dbSNP |
| 1 | g.161306900G>C | CA343349903 | MPZ | c.256C>G (p.Gln86Glu) c.-333C>G (n.-333C>G) n.319C>G c.286C>G (p.Gln96Glu) | |
| 1 | g.161306900G= | CA1202689888 | MPZ | c.256C= (p.Gln86=) c.-333C= (n.-333C=) n.319C= c.286C= (p.Gln96=) | |
| 1 | g.161306900G>T | CA343349916 | MPZ | c.256C>A (p.Gln86Lys) c.-333C>A (n.-333C>A) n.319C>A c.286C>A (p.Gln96Lys) | |
| 1 | g.161306901T>A | CA421405303 | MPZ | c.255A>T (p.Gly85=) c.-334A>T (n.-334A>T) n.318A>T c.285A>T (p.Gly95=) | |
| 1 | g.161306901T>C | CA421405301 | MPZ | c.255A>G (p.Gly85=) c.-334A>G (n.-334A>G) n.318A>G c.285A>G (p.Gly95=) | |
| 1 | g.161306901T>G | CA421405302 | MPZ | c.255A>C (p.Gly85=) c.-334A>C (n.-334A>C) n.318A>C c.285A>C (p.Gly95=) | |
| 1 | g.161306901_161306902delinsTC | CA1202689891 | MPZ | c.254_255delinsGA (p.Gly85=) c.-335_-334delinsGA (n.-335_-334delinsGA) n.317_318delinsGA c.284_285delinsGA (p.Gly95=) | |
| 1 | g.161306902C>A | CA343349920 | MPZ | c.254G>T (p.Gly85Val) c.-335G>T (n.-335G>T) n.317G>T c.284G>T (p.Gly95Val) | |
| 1 | g.161306902C= | CA1202689895 | MPZ | c.254G= (p.Gly85=) c.-335G= (n.-335G=) n.317G= c.284G= (p.Gly95=) | |
| 1 | g.161306902C>G | CA343349922 | MPZ | c.254G>C (p.Gly85Ala) c.-335G>C (n.-335G>C) n.317G>C c.284G>C (p.Gly95Ala) | ClinVar dbSNP |
| 1 | g.161306902C>T | CA343349924 | MPZ | c.254G>A (p.Gly85Glu) c.-335G>A (n.-335G>A) n.317G>A c.284G>A (p.Gly95Glu) | gnomAD v4 |
| 1 | g.161306904del | CA1210191 | MPZ | c.254del (p.Gly85AspfsTer18) c.-335del (n.-335del) n.317del c.284del (p.Gly95AspfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.161306903C>A | CA343349933 | MPZ | c.253G>T (p.Gly85Ter) c.-336G>T (n.-336G>T) n.316G>T c.283G>T (p.Gly95Ter) | gnomAD v4 |
| 1 | g.161306903C>G | CA343349935 | MPZ | c.253G>C (p.Gly85Arg) c.-336G>C (n.-336G>C) n.316G>C c.283G>C (p.Gly95Arg) | |
| 1 | g.161306903C>T | CA343349940 | MPZ | c.253G>A (p.Gly85Arg) c.-336G>A (n.-336G>A) n.316G>A c.283G>A (p.Gly95Arg) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.161306904C>A | CA343349956 | MPZ | c.252G>T (p.Lys84Asn) c.-337G>T (n.-337G>T) n.315G>T c.282G>T (p.Lys94Asn) | |
| 1 | g.161306904C= | CA1202689903 | MPZ | c.252G= (p.Lys84=) c.-337G= (n.-337G=) n.315G= c.282G= (p.Lys94=) | |
| 1 | g.161306904C>G | CA343349953 | MPZ | c.252G>C (p.Lys84Asn) c.-337G>C (n.-337G>C) n.315G>C c.282G>C (p.Lys94Asn) | |
| 1 | g.161306904C>T | CA31668909 | MPZ | c.252G>A (p.Lys84=) c.-337G>A (n.-337G>A) n.315G>A c.282G>A (p.Lys94=) | dbSNP |
| 1 | g.161306905T>A | CA343349958 | MPZ | c.251A>T (p.Lys84Met) c.-338A>T (n.-338A>T) n.314A>T c.281A>T (p.Lys94Met) | |
| 1 | g.161306905T>C | CA343349959 | MPZ | c.251A>G (p.Lys84Arg) c.-338A>G (n.-338A>G) n.314A>G c.281A>G (p.Lys94Arg) | |
| 1 | g.161306905T>G | CA343349962 | MPZ | c.251A>C (p.Lys84Thr) c.-338A>C (n.-338A>C) n.314A>C c.281A>C (p.Lys94Thr) | |
| 1 | g.161306906T>A | CA343349971 | MPZ | c.250A>T (p.Lys84Ter) c.-339A>T (n.-339A>T) n.313A>T c.280A>T (p.Lys94Ter) | |
| 1 | g.161306906T>C | CA343349972 | MPZ | c.250A>G (p.Lys84Glu) c.-339A>G (n.-339A>G) n.313A>G c.280A>G (p.Lys94Glu) | ClinVar |
| 1 | g.161306906T>G | CA343349973 | MPZ | c.250A>C (p.Lys84Gln) c.-339A>C (n.-339A>C) n.313A>C c.280A>C (p.Lys94Gln) | |
| 1 | g.161306907G>A | CA421405307 | MPZ | c.249C>T (p.Ala83=) c.-340C>T (n.-340C>T) n.312C>T c.279C>T (p.Ala93=) | |
| 1 | g.161306907G>C | CA421405308 | MPZ | c.249C>G (p.Ala83=) c.-340C>G (n.-340C>G) n.312C>G c.279C>G (p.Ala93=) | |
| 1 | g.161306907G>T | CA421405309 | MPZ | c.249C>A (p.Ala83=) c.-340C>A (n.-340C>A) n.312C>A c.279C>A (p.Ala93=) | |
| 1 | g.161306908del | CA2574078240 | MPZ | c.249del (p.Lys84ArgfsTer19) c.-340del (n.-340del) n.312del c.279del (p.Lys94ArgfsTer19) | |
| 1 | g.161306908G>A | CA343349975 | MPZ | c.248C>T (p.Ala83Val) c.-341C>T (n.-341C>T) n.311C>T c.278C>T (p.Ala93Val) | |
| 1 | g.161306908G>C | CA343349977 | MPZ | c.248C>G (p.Ala83Gly) c.-341C>G (n.-341C>G) n.311C>G c.278C>G (p.Ala93Gly) | |
| 1 | g.161306908G>T | CA343349979 | MPZ | c.248C>A (p.Ala83Asp) c.-341C>A (n.-341C>A) n.311C>A c.278C>A (p.Ala93Asp) | |
| 1 | g.161306909C>A | CA343349982 | MPZ | c.247G>T (p.Ala83Ser) c.-342G>T (n.-342G>T) n.310G>T c.277G>T (p.Ala93Ser) | gnomAD v4 |
| 1 | g.161306909C= | CA1202689906 | MPZ | c.247G= (p.Ala83=) c.-342G= (n.-342G=) n.310G= c.277G= (p.Ala93=) | |
| 1 | g.161306909C>G | CA343349986 | MPZ | c.247G>C (p.Ala83Pro) c.-342G>C (n.-342G>C) n.310G>C c.277G>C (p.Ala93Pro) | |
| 1 | g.161306909C>T | CA343349988 | MPZ | c.247G>A (p.Ala83Thr) c.-342G>A (n.-342G>A) n.310G>A c.277G>A (p.Ala93Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.161306910A>C | CA343349992 | MPZ | c.246T>G (p.Tyr82Ter) c.-343T>G (n.-343T>G) n.309T>G c.276T>G (p.Tyr92Ter) | |
| 1 | g.161306910A>G | CA421405311 | MPZ | c.246T>C (p.Tyr82=) c.-343T>C (n.-343T>C) n.309T>C c.276T>C (p.Tyr92=) | |
| 1 | g.161306910A>T | CA343349994 | MPZ | c.246T>A (p.Tyr82Ter) c.-343T>A (n.-343T>A) n.309T>A c.276T>A (p.Tyr92Ter) | |
| 1 | g.161306911T>A | CA343350003 | MPZ | c.245A>T (p.Tyr82Phe) c.-344A>T (n.-344A>T) n.308A>T c.275A>T (p.Tyr92Phe) | |
| 1 | g.161306911T>C | CA343350015 | MPZ | c.245A>G (p.Tyr82Cys) c.-344A>G (n.-344A>G) n.308A>G c.275A>G (p.Tyr92Cys) | ClinVar dbSNP |
| 1 | g.161306911T>G | CA343350020 | MPZ | c.245A>C (p.Tyr82Ser) c.-344A>C (n.-344A>C) n.308A>C c.275A>C (p.Tyr92Ser) | ClinVar dbSNP |
| 1 | g.161306911T= | CA1202689909 | MPZ | c.245A= (p.Tyr82=) c.-344A= (n.-344A=) n.308A= c.275A= (p.Tyr92=) | |
| 1 | g.161306912A= | CA1143538439 | MPZ | c.244T= (p.Tyr82=) c.-345T= (n.-345T=) n.307T= c.274T= (p.Tyr92=) | |
| 1 | g.161306912A>C | CA343350022 | MPZ | c.244T>G (p.Tyr82Asp) c.-345T>G (n.-345T>G) n.307T>G c.274T>G (p.Tyr92Asp) | |
| 1 | g.161306912A>G | CA343897 | MPZ | c.244T>C (p.Tyr82His) c.-345T>C (n.-345T>C) n.307T>C c.274T>C (p.Tyr92His) | ClinVar dbSNP |
| 1 | g.161306912A>T | CA343350024 | MPZ | c.244T>A (p.Tyr82Asn) c.-345T>A (n.-345T>A) n.307T>A c.274T>A (p.Tyr92Asn) | |
| 1 | g.161306913G>A | CA421405313 | MPZ | c.243C>T (p.His81=) c.-346C>T (n.-346C>T) n.306C>T c.273C>T (p.His91=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.161306913G>C | CA343350032 | MPZ | c.243C>G (p.His81Gln) c.-346C>G (n.-346C>G) n.306C>G c.273C>G (p.His91Gln) | ClinVar dbSNP |
| 1 | g.161306913G= | CA1202689916 | MPZ | c.243C= (p.His81=) c.-346C= (n.-346C=) n.306C= c.273C= (p.His91=) | |
| 1 | g.161306913G>T | CA343350034 | MPZ | c.243C>A (p.His81Gln) c.-346C>A (n.-346C>A) n.306C>A c.273C>A (p.His91Gln) | |
| 1 | g.161306914T>A | CA343350035 | MPZ | c.242A>T (p.His81Leu) c.-347A>T (n.-347A>T) n.305A>T c.272A>T (p.His91Leu) | ClinVar dbSNP |
| 1 | g.161306914T>C | CA341323 | MPZ | c.242A>G (p.His81Arg) c.-347A>G (n.-347A>G) n.305A>G c.272A>G (p.His91Arg) | ClinVar dbSNP |
| 1 | g.161306914T>G | CA343350038 | MPZ | c.242A>C (p.His81Pro) c.-347A>C (n.-347A>C) n.305A>C c.272A>C (p.His91Pro) | |
| 1 | g.161306914T= | CA1141581151 | MPZ | c.242A= (p.His81=) c.-347A= (n.-347A=) n.305A= c.272A= (p.His91=) | |
| 1 | g.161306915G>A | CA343894 | MPZ | c.241C>T (p.His81Tyr) c.-348C>T (n.-348C>T) n.304C>T c.271C>T (p.His91Tyr) | ClinVar dbSNP |
| 1 | g.161306915G>C | CA343350046 | MPZ | c.241C>G (p.His81Asp) c.-348C>G (n.-348C>G) n.304C>G c.271C>G (p.His91Asp) | |
| 1 | g.161306915G= | CA1143538440 | MPZ | c.241C= (p.His81=) c.-348C= (n.-348C=) n.304C= c.271C= (p.His91=) | |
| 1 | g.161306915G>T | CA343350042 | MPZ | c.241C>A (p.His81Asn) c.-348C>A (n.-348C>A) n.304C>A c.271C>A (p.His91Asn) | |
| 1 | g.161306916G>A | CA421405317 | MPZ | c.240C>T (p.Phe80=) c.-349C>T (n.-349C>T) n.303C>T c.270C>T (p.Phe90=) | COSMIC COSMIC |
| 1 | g.161306916G>C | CA343350052 | MPZ | c.240C>G (p.Phe80Leu) c.-349C>G (n.-349C>G) n.303C>G c.270C>G (p.Phe90Leu) | |
| 1 | g.161306916G>T | CA343350053 | MPZ | c.240C>A (p.Phe80Leu) c.-349C>A (n.-349C>A) n.303C>A c.270C>A (p.Phe90Leu) | |
| 1 | g.161306917A>C | CA343350054 | MPZ | c.239T>G (p.Phe80Cys) c.-350T>G (n.-350T>G) n.302T>G c.269T>G (p.Phe90Cys) | |
| 1 | g.161306917A>G | CA343350055 | MPZ | c.239T>C (p.Phe80Ser) c.-350T>C (n.-350T>C) n.302T>C c.269T>C (p.Phe90Ser) | |
| 1 | g.161306917A>T | CA343350057 | MPZ | c.239T>A (p.Phe80Tyr) c.-350T>A (n.-350T>A) n.302T>A c.269T>A (p.Phe90Tyr) | |
| 1 | g.161306918A>C | CA343350062 | MPZ | c.238T>G (p.Phe80Val) c.-351T>G (n.-351T>G) n.301T>G c.268T>G (p.Phe90Val) | |
| 1 | g.161306918A>G | CA343350070 | MPZ | c.238T>C (p.Phe80Leu) c.-351T>C (n.-351T>C) n.301T>C c.268T>C (p.Phe90Leu) | |
| 1 | g.161306918A>T | CA343350079 | MPZ | c.238T>A (p.Phe80Ile) c.-351T>A (n.-351T>A) n.301T>A c.268T>A (p.Phe90Ile) | |
| 1 | g.161306919G>A | CA421405319 | MPZ | c.237C>T (p.Ile79=) c.-352C>T (n.-352C>T) n.300C>T c.267C>T (p.Ile89=) | gnomAD v4 |
| 1 | g.161306919G>C | CA343350088 | MPZ | c.237C>G (p.Ile79Met) c.-352C>G (n.-352C>G) n.300C>G c.267C>G (p.Ile89Met) | |
| 1 | g.161306919G>T | CA421405320 | MPZ | c.237C>A (p.Ile79=) c.-352C>A (n.-352C>A) n.300C>A c.267C>A (p.Ile89=) | |
| 1 | g.161306920A= | CA1202689930 | MPZ | c.236T= (p.Ile79=) c.-353T= (n.-353T=) n.299T= c.266T= (p.Ile89=) | |
| 1 | g.161306920A>C | CA343350089 | MPZ | c.236T>G (p.Ile79Ser) c.-353T>G (n.-353T>G) n.299T>G c.266T>G (p.Ile89Ser) | |
| 1 | g.161306920A>G | CA343350096 | MPZ | c.236T>C (p.Ile79Thr) c.-353T>C (n.-353T>C) n.299T>C c.266T>C (p.Ile89Thr) | ClinVar dbSNP |
| 1 | g.161306920A>T | CA343350104 | MPZ | c.236T>A (p.Ile79Asn) c.-353T>A (n.-353T>A) n.299T>A c.266T>A (p.Ile89Asn) |