Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101770515G>A | CA386303245 | GNPTAB | c.1004C>T (p.Ser335Phe) c.923C>T (p.Ser308Phe) c.788C>T (p.Ser263Phe) c.-224C>T (n.-224C>T) | |
12 | g.101770515G>C | CA386303243 | GNPTAB | c.1004C>G (p.Ser335Cys) c.923C>G (p.Ser308Cys) c.788C>G (p.Ser263Cys) c.-224C>G (n.-224C>G) | |
12 | g.101770515G>T | CA386303244 | GNPTAB | c.1004C>A (p.Ser335Tyr) c.923C>A (p.Ser308Tyr) c.788C>A (p.Ser263Tyr) c.-224C>A (n.-224C>A) | |
12 | g.101770516A= | CA2058958018 | GNPTAB | c.1003T= (p.Ser335=) c.922T= (p.Ser308=) c.787T= (p.Ser263=) c.-225T= (n.-225T=) | |
12 | g.101770516A>C | CA386303246 | GNPTAB | c.1003T>G (p.Ser335Ala) c.922T>G (p.Ser308Ala) c.787T>G (p.Ser263Ala) c.-225T>G (n.-225T>G) | |
12 | g.101770516A>G | CA386303247 | GNPTAB | c.1003T>C (p.Ser335Pro) c.922T>C (p.Ser308Pro) c.787T>C (p.Ser263Pro) c.-225T>C (n.-225T>C) | gnomAD v4 |
12 | g.101770516A>T | CA386303248 | GNPTAB | c.1003T>A (p.Ser335Thr) c.922T>A (p.Ser308Thr) c.787T>A (p.Ser263Thr) c.-225T>A (n.-225T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770517T>A | CA481320754 | GNPTAB | c.1002A>T (p.Arg334=) c.921A>T (p.Arg307=) c.786A>T (p.Arg262=) c.-226A>T (n.-226A>T) | |
12 | g.101770517T>C | CA481320755 | GNPTAB | c.1002A>G (p.Arg334=) c.921A>G (p.Arg307=) c.786A>G (p.Arg262=) c.-226A>G (n.-226A>G) | |
12 | g.101770517T>G | CA481320756 | GNPTAB | c.1002A>C (p.Arg334=) c.921A>C (p.Arg307=) c.786A>C (p.Arg262=) c.-226A>C (n.-226A>C) | |
12 | g.101770518C>A | CA343332 | GNPTAB | c.1001G>T (p.Arg334Leu) c.920G>T (p.Arg307Leu) c.785G>T (p.Arg262Leu) c.-227G>T (n.-227G>T) | ClinVar dbSNP gnomAD v4 |
12 | g.101770518C= | CA2058958019 | GNPTAB | c.1001G= (p.Arg334=) c.920G= (p.Arg307=) c.785G= (p.Arg262=) c.-227G= (n.-227G=) | |
12 | g.101770518C>G | CA386303249 | GNPTAB | c.1001G>C (p.Arg334Pro) c.920G>C (p.Arg307Pro) c.785G>C (p.Arg262Pro) c.-227G>C (n.-227G>C) | |
12 | g.101770518C>T | CA343331 | GNPTAB | c.1001G>A (p.Arg334Gln) c.920G>A (p.Arg307Gln) c.785G>A (p.Arg262Gln) c.-227G>A (n.-227G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770519G>A | CA223747 | GNPTAB | c.1000C>T (p.Arg334Ter) c.919C>T (p.Arg307Ter) c.784C>T (p.Arg262Ter) c.-228C>T (n.-228C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.101770519G>C | CA386303250 | GNPTAB | c.1000C>G (p.Arg334Gly) c.919C>G (p.Arg307Gly) c.784C>G (p.Arg262Gly) c.-228C>G (n.-228C>G) | |
12 | g.101770519G= | CA2058958020 | GNPTAB | c.1000C= (p.Arg334=) c.919C= (p.Arg307=) c.784C= (p.Arg262=) c.-228C= (n.-228C=) | |
12 | g.101770519G>T | CA481320757 | GNPTAB | c.1000C>A (p.Arg334=) c.919C>A (p.Arg307=) c.784C>A (p.Arg262=) c.-228C>A (n.-228C>A) | gnomAD v4 |
12 | g.101770520C>A | CA386303251 | GNPTAB | c.999G>T (p.Leu333Phe) c.918G>T (p.Leu306Phe) c.783G>T (p.Leu261Phe) c.-229G>T (n.-229G>T) | |
12 | g.101770520C>G | CA386303252 | GNPTAB | c.999G>C (p.Leu333Phe) c.918G>C (p.Leu306Phe) c.783G>C (p.Leu261Phe) c.-229G>C (n.-229G>C) | |
12 | g.101770520C>T | CA481320758 | GNPTAB | c.999G>A (p.Leu333=) c.918G>A (p.Leu306=) c.783G>A (p.Leu261=) c.-229G>A (n.-229G>A) | |
12 | g.101770521A>C | CA386303253 | GNPTAB | c.998T>G (p.Leu333Trp) c.917T>G (p.Leu306Trp) c.782T>G (p.Leu261Trp) c.-230T>G (n.-230T>G) | |
12 | g.101770521A>G | CA386303254 | GNPTAB | c.998T>C (p.Leu333Ser) c.917T>C (p.Leu306Ser) c.782T>C (p.Leu261Ser) c.-230T>C (n.-230T>C) | |
12 | g.101770521A>T | CA386303255 | GNPTAB | c.998T>A (p.Leu333Ter) c.917T>A (p.Leu306Ter) c.782T>A (p.Leu261Ter) c.-230T>A (n.-230T>A) | ClinVar |
12 | g.101770522A= | CA2058958021 | GNPTAB | c.997T= (p.Leu333=) c.916T= (p.Leu306=) c.781T= (p.Leu261=) c.-231T= (n.-231T=) | |
12 | g.101770522A>C | CA386303256 | GNPTAB | c.997T>G (p.Leu333Val) c.916T>G (p.Leu306Val) c.781T>G (p.Leu261Val) c.-231T>G (n.-231T>G) | |
12 | g.101770522A>G | CA6746739 | GNPTAB | c.997T>C (p.Leu333=) c.916T>C (p.Leu306=) c.781T>C (p.Leu261=) c.-231T>C (n.-231T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101770522A>T | CA386303257 | GNPTAB | c.997T>A (p.Leu333Met) c.916T>A (p.Leu306Met) c.781T>A (p.Leu261Met) c.-231T>A (n.-231T>A) | |
12 | g.101770523_101770525del | CA2620452167 | GNPTAB | c.995_997del (p.Ser332del) c.914_916del (p.Ser305del) c.779_781del (p.Ser260del) c.-233_-231del (n.-233_-231del) | gnomAD v4 |
12 | g.101770523T>A | CA481320759 | GNPTAB | c.996A>T (p.Ser332=) c.915A>T (p.Ser305=) c.780A>T (p.Ser260=) c.-232A>T (n.-232A>T) | |
12 | g.101770523T>C | CA481320760 | GNPTAB | c.996A>G (p.Ser332=) c.915A>G (p.Ser305=) c.780A>G (p.Ser260=) c.-232A>G (n.-232A>G) | gnomAD v4 |
12 | g.101770523T>G | CA481320761 | GNPTAB | c.996A>C (p.Ser332=) c.915A>C (p.Ser305=) c.780A>C (p.Ser260=) c.-232A>C (n.-232A>C) | |
12 | g.101770524G>A | CA386303258 | GNPTAB | c.995C>T (p.Ser332Leu) c.914C>T (p.Ser305Leu) c.779C>T (p.Ser260Leu) c.-233C>T (n.-233C>T) | |
12 | g.101770524G>C | CA386303259 | GNPTAB | c.995C>G (p.Ser332Ter) c.914C>G (p.Ser305Ter) c.779C>G (p.Ser260Ter) c.-233C>G (n.-233C>G) | |
12 | g.101770524G>T | CA386303260 | GNPTAB | c.995C>A (p.Ser332Ter) c.914C>A (p.Ser305Ter) c.779C>A (p.Ser260Ter) c.-233C>A (n.-233C>A) | |
12 | g.101770525A= | CA2058958022 | GNPTAB | c.994T= (p.Ser332=) c.913T= (p.Ser305=) c.778T= (p.Ser260=) c.-234T= (n.-234T=) | |
12 | g.101770525A>C | CA386303261 | GNPTAB | c.994T>G (p.Ser332Ala) c.913T>G (p.Ser305Ala) c.778T>G (p.Ser260Ala) c.-234T>G (n.-234T>G) | |
12 | g.101770525A>G | CA386303262 | GNPTAB | c.994T>C (p.Ser332Pro) c.913T>C (p.Ser305Pro) c.778T>C (p.Ser260Pro) c.-234T>C (n.-234T>C) | dbSNP |
12 | g.101770525A>T | CA386303263 | GNPTAB | c.994T>A (p.Ser332Thr) c.913T>A (p.Ser305Thr) c.778T>A (p.Ser260Thr) c.-234T>A (n.-234T>A) | gnomAD v4 |
12 | g.101770526G>A | CA481320762 | GNPTAB | c.993C>T (p.Tyr331=) c.912C>T (p.Tyr304=) c.777C>T (p.Tyr259=) c.-235C>T (n.-235C>T) | |
12 | g.101770526G>C | CA386303264 | GNPTAB | c.993C>G (p.Tyr331Ter) c.912C>G (p.Tyr304Ter) c.777C>G (p.Tyr259Ter) c.-235C>G (n.-235C>G) | |
12 | g.101770526G= | CA2058958023 | GNPTAB | c.993C= (p.Tyr331=) c.912C= (p.Tyr304=) c.777C= (p.Tyr259=) c.-235C= (n.-235C=) | |
12 | g.101770526G>T | CA386303265 | GNPTAB | c.993C>A (p.Tyr331Ter) c.912C>A (p.Tyr304Ter) c.777C>A (p.Tyr259Ter) c.-235C>A (n.-235C>A) | ClinVar dbSNP |
12 | g.101770527T>A | CA386303266 | GNPTAB | c.992A>T (p.Tyr331Phe) c.911A>T (p.Tyr304Phe) c.776A>T (p.Tyr259Phe) c.-236A>T (n.-236A>T) | |
12 | g.101770527T>C | CA386303267 | GNPTAB | c.992A>G (p.Tyr331Cys) c.911A>G (p.Tyr304Cys) c.776A>G (p.Tyr259Cys) c.-236A>G (n.-236A>G) | |
12 | g.101770527T>G | CA386303268 | GNPTAB | c.992A>C (p.Tyr331Ser) c.911A>C (p.Tyr304Ser) c.776A>C (p.Tyr259Ser) c.-236A>C (n.-236A>C) | |
12 | g.101770527_101770528delinsTA | CA2058958024 | GNPTAB | c.991_992delinsTA (p.Tyr331=) c.910_911delinsTA (p.Tyr304=) c.775_776delinsTA (p.Tyr259=) c.-237_-236delinsTA (n.-237_-236delinsTA) | |
12 | g.101770528del | CA1139662833 | GNPTAB | c.991del (p.Tyr331ThrfsTer28) c.910del (p.Tyr304ThrfsTer28) c.775del (p.Tyr259ThrfsTer28) c.-237del (n.-237del) | ClinVar dbSNP |
12 | g.101770528A>C | CA386303271 | GNPTAB | c.991T>G (p.Tyr331Asp) c.910T>G (p.Tyr304Asp) c.775T>G (p.Tyr259Asp) c.-237T>G (n.-237T>G) | |
12 | g.101770528A>G | CA386303270 | GNPTAB | c.991T>C (p.Tyr331His) c.910T>C (p.Tyr304His) c.775T>C (p.Tyr259His) c.-237T>C (n.-237T>C) | |
12 | g.101770528A>T | CA386303269 | GNPTAB | c.991T>A (p.Tyr331Asn) c.910T>A (p.Tyr304Asn) c.775T>A (p.Tyr259Asn) c.-237T>A (n.-237T>A) | |
12 | g.101770529C>A | CA386303272 | GNPTAB | c.990G>T (p.Arg330Ser) c.909G>T (p.Arg303Ser) c.774G>T (p.Arg258Ser) c.-238G>T (n.-238G>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770529C= | CA2058958025 | GNPTAB | c.990G= (p.Arg330=) c.909G= (p.Arg303=) c.774G= (p.Arg258=) c.-238G= (n.-238G=) | |
12 | g.101770529C>G | CA386303273 | GNPTAB | c.990G>C (p.Arg330Ser) c.909G>C (p.Arg303Ser) c.774G>C (p.Arg258Ser) c.-238G>C (n.-238G>C) | |
12 | g.101770529C>T | CA6746740 | GNPTAB | c.990G>A (p.Arg330=) c.909G>A (p.Arg303=) c.774G>A (p.Arg258=) c.-238G>A (n.-238G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101770530C>A | CA386303274 | GNPTAB | c.989G>T (p.Arg330Met) c.908G>T (p.Arg303Met) c.773G>T (p.Arg258Met) c.-239G>T (n.-239G>T) | |
12 | g.101770530C>G | CA386303275 | GNPTAB | c.989G>C (p.Arg330Thr) c.908G>C (p.Arg303Thr) c.773G>C (p.Arg258Thr) c.-239G>C (n.-239G>C) | gnomAD v4 |
12 | g.101770530C>T | CA386303276 | GNPTAB | c.989G>A (p.Arg330Lys) c.908G>A (p.Arg303Lys) c.773G>A (p.Arg258Lys) c.-239G>A (n.-239G>A) | |
12 | g.101770531T>A | CA386303277 | GNPTAB | c.988A>T (p.Arg330Trp) c.907A>T (p.Arg303Trp) c.772A>T (p.Arg258Trp) c.-240A>T (n.-240A>T) | |
12 | g.101770531T>C | CA386303278 | GNPTAB | c.988A>G (p.Arg330Gly) c.907A>G (p.Arg303Gly) c.772A>G (p.Arg258Gly) c.-240A>G (n.-240A>G) | |
12 | g.101770531T>G | CA481320763 | GNPTAB | c.988A>C (p.Arg330=) c.907A>C (p.Arg303=) c.772A>C (p.Arg258=) c.-240A>C (n.-240A>C) | |
12 | g.101770532C>A | CA481320765 | GNPTAB | c.987G>T (p.Leu329=) c.906G>T (p.Leu302=) c.771G>T (p.Leu257=) c.-241G>T (n.-241G>T) | |
12 | g.101770532C>G | CA481320764 | GNPTAB | c.987G>C (p.Leu329=) c.906G>C (p.Leu302=) c.771G>C (p.Leu257=) c.-241G>C (n.-241G>C) | |
12 | g.101770532C>T | CA481320766 | GNPTAB | c.987G>A (p.Leu329=) c.906G>A (p.Leu302=) c.771G>A (p.Leu257=) c.-241G>A (n.-241G>A) | |
12 | g.101770533A>C | CA386303279 | GNPTAB | c.986T>G (p.Leu329Arg) c.905T>G (p.Leu302Arg) c.770T>G (p.Leu257Arg) c.-242T>G (n.-242T>G) | |
12 | g.101770533A>G | CA386303280 | GNPTAB | c.986T>C (p.Leu329Pro) c.905T>C (p.Leu302Pro) c.770T>C (p.Leu257Pro) c.-242T>C (n.-242T>C) | |
12 | g.101770533A>T | CA386303281 | GNPTAB | c.986T>A (p.Leu329Gln) c.905T>A (p.Leu302Gln) c.770T>A (p.Leu257Gln) c.-242T>A (n.-242T>A) | |
12 | g.101770534G>A | CA481320767 | GNPTAB | c.985C>T (p.Leu329=) c.904C>T (p.Leu302=) c.769C>T (p.Leu257=) c.-243C>T (n.-243C>T) | |
12 | g.101770534G>C | CA386303282 | GNPTAB | c.985C>G (p.Leu329Val) c.904C>G (p.Leu302Val) c.769C>G (p.Leu257Val) c.-243C>G (n.-243C>G) | |
12 | g.101770534G>T | CA386303283 | GNPTAB | c.985C>A (p.Leu329Met) c.904C>A (p.Leu302Met) c.769C>A (p.Leu257Met) c.-243C>A (n.-243C>A) | COSMIC COSMIC |
12 | g.101770535T>A | CA386303285 | GNPTAB | c.984A>T (p.Glu328Asp) c.903A>T (p.Glu301Asp) c.768A>T (p.Glu256Asp) c.-244A>T (n.-244A>T) | |
12 | g.101770535T>C | CA6746741 | GNPTAB | c.984A>G (p.Glu328=) c.903A>G (p.Glu301=) c.768A>G (p.Glu256=) c.-244A>G (n.-244A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770535T>G | CA386303284 | GNPTAB | c.984A>C (p.Glu328Asp) c.903A>C (p.Glu301Asp) c.768A>C (p.Glu256Asp) c.-244A>C (n.-244A>C) | |
12 | g.101770535T= | CA2058958026 | GNPTAB | c.984A= (p.Glu328=) c.903A= (p.Glu301=) c.768A= (p.Glu256=) c.-244A= (n.-244A=) | |
12 | g.101770536T>A | CA386303286 | GNPTAB | c.983A>T (p.Glu328Val) c.902A>T (p.Glu301Val) c.767A>T (p.Glu256Val) c.-245A>T (n.-245A>T) | |
12 | g.101770536T>C | CA386303287 | GNPTAB | c.983A>G (p.Glu328Gly) c.902A>G (p.Glu301Gly) c.767A>G (p.Glu256Gly) c.-245A>G (n.-245A>G) | |
12 | g.101770536T>G | CA386303288 | GNPTAB | c.983A>C (p.Glu328Ala) c.902A>C (p.Glu301Ala) c.767A>C (p.Glu256Ala) c.-245A>C (n.-245A>C) | |
12 | g.101770537C>A | CA386303289 | GNPTAB | c.982G>T (p.Glu328Ter) c.901G>T (p.Glu301Ter) c.766G>T (p.Glu256Ter) c.-246G>T (n.-246G>T) | |
12 | g.101770537C>G | CA386303290 | GNPTAB | c.982G>C (p.Glu328Gln) c.901G>C (p.Glu301Gln) c.766G>C (p.Glu256Gln) c.-246G>C (n.-246G>C) | COSMIC |
12 | g.101770537C>T | CA386303291 | GNPTAB | c.982G>A (p.Glu328Lys) c.901G>A (p.Glu301Lys) c.766G>A (p.Glu256Lys) c.-246G>A (n.-246G>A) | gnomAD v4 |
12 | g.101770538T>A | CA386303292 | GNPTAB | c.981A>T (p.Glu327Asp) c.900A>T (p.Glu300Asp) c.765A>T (p.Glu255Asp) c.-247A>T (n.-247A>T) | |
12 | g.101770538T>C | CA481320769 | GNPTAB | c.981A>G (p.Glu327=) c.900A>G (p.Glu300=) c.765A>G (p.Glu255=) c.-247A>G (n.-247A>G) | |
12 | g.101770538T>G | CA386303293 | GNPTAB | c.981A>C (p.Glu327Asp) c.900A>C (p.Glu300Asp) c.765A>C (p.Glu255Asp) c.-247A>C (n.-247A>C) | |
12 | g.101770539T>A | CA386303294 | GNPTAB | c.980A>T (p.Glu327Val) c.899A>T (p.Glu300Val) c.764A>T (p.Glu255Val) c.-248A>T (n.-248A>T) | |
12 | g.101770539T>C | CA386303295 | GNPTAB | c.980A>G (p.Glu327Gly) c.899A>G (p.Glu300Gly) c.764A>G (p.Glu255Gly) c.-248A>G (n.-248A>G) | |
12 | g.101770539T>G | CA386303296 | GNPTAB | c.980A>C (p.Glu327Ala) c.899A>C (p.Glu300Ala) c.764A>C (p.Glu255Ala) c.-248A>C (n.-248A>C) | |
12 | g.101770540C>A | CA386303297 | GNPTAB | c.979G>T (p.Glu327Ter) c.898G>T (p.Glu300Ter) c.763G>T (p.Glu255Ter) c.-249G>T (n.-249G>T) | |
12 | g.101770540C= | CA2058958027 | GNPTAB | c.979G= (p.Glu327=) c.898G= (p.Glu300=) c.763G= (p.Glu255=) c.-249G= (n.-249G=) | |
12 | g.101770540C>G | CA386303298 | GNPTAB | c.979G>C (p.Glu327Gln) c.898G>C (p.Glu300Gln) c.763G>C (p.Glu255Gln) c.-249G>C (n.-249G>C) | ClinVar |
12 | g.101770540C>T | CA6746742 | GNPTAB | c.979G>A (p.Glu327Lys) c.898G>A (p.Glu300Lys) c.763G>A (p.Glu255Lys) c.-249G>A (n.-249G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.101770541G>A | CA6746743 | GNPTAB | c.978C>T (p.Asn326=) c.897C>T (p.Asn299=) c.762C>T (p.Asn254=) c.-250C>T (n.-250C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770541G>C | CA386303300 | GNPTAB | c.978C>G (p.Asn326Lys) c.897C>G (p.Asn299Lys) c.762C>G (p.Asn254Lys) c.-250C>G (n.-250C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770541G= | CA2058958028 | GNPTAB | c.978C= (p.Asn326=) c.897C= (p.Asn299=) c.762C= (p.Asn254=) c.-250C= (n.-250C=) | |
12 | g.101770541G>T | CA386303299 | GNPTAB | c.978C>A (p.Asn326Lys) c.897C>A (p.Asn299Lys) c.762C>A (p.Asn254Lys) c.-250C>A (n.-250C>A) | |
12 | g.101770542T>A | CA386303301 | GNPTAB | c.977A>T (p.Asn326Ile) c.896A>T (p.Asn299Ile) c.761A>T (p.Asn254Ile) c.-251A>T (n.-251A>T) | |
12 | g.101770542T>C | CA386303303 | GNPTAB | c.977A>G (p.Asn326Ser) c.896A>G (p.Asn299Ser) c.761A>G (p.Asn254Ser) c.-251A>G (n.-251A>G) | |
12 | g.101770542T>G | CA386303302 | GNPTAB | c.977A>C (p.Asn326Thr) c.896A>C (p.Asn299Thr) c.761A>C (p.Asn254Thr) c.-251A>C (n.-251A>C) | |
12 | g.101770543T>A | CA386303304 | GNPTAB | c.976A>T (p.Asn326Tyr) c.895A>T (p.Asn299Tyr) c.760A>T (p.Asn254Tyr) c.-252A>T (n.-252A>T) | |
12 | g.101770543T>C | CA386303306 | GNPTAB | c.976A>G (p.Asn326Asp) c.895A>G (p.Asn299Asp) c.760A>G (p.Asn254Asp) c.-252A>G (n.-252A>G) | dbSNP |
12 | g.101770543T>G | CA386303305 | GNPTAB | c.976A>C (p.Asn326His) c.895A>C (p.Asn299His) c.760A>C (p.Asn254His) c.-252A>C (n.-252A>C) | |
12 | g.101770543T= | CA2058958029 | GNPTAB | c.976A= (p.Asn326=) c.895A= (p.Asn299=) c.760A= (p.Asn254=) c.-252A= (n.-252A=) | |
12 | g.101770544A>C | CA386303307 | GNPTAB | c.975T>G (p.Asp325Glu) c.894T>G (p.Asp298Glu) c.759T>G (p.Asp253Glu) c.-253T>G (n.-253T>G) | |
12 | g.101770544A>G | CA481320770 | GNPTAB | c.975T>C (p.Asp325=) c.894T>C (p.Asp298=) c.759T>C (p.Asp253=) c.-253T>C (n.-253T>C) | |
12 | g.101770544A>T | CA386303308 | GNPTAB | c.975T>A (p.Asp325Glu) c.894T>A (p.Asp298Glu) c.759T>A (p.Asp253Glu) c.-253T>A (n.-253T>A) | |
12 | g.101770545T>A | CA386303309 | GNPTAB | c.974A>T (p.Asp325Val) c.893A>T (p.Asp298Val) c.758A>T (p.Asp253Val) c.-254A>T (n.-254A>T) | gnomAD v4 |
12 | g.101770545T>C | CA386303311 | GNPTAB | c.974A>G (p.Asp325Gly) c.893A>G (p.Asp298Gly) c.758A>G (p.Asp253Gly) c.-254A>G (n.-254A>G) | ClinVar dbSNP gnomAD v4 |
12 | g.101770545T>G | CA386303310 | GNPTAB | c.974A>C (p.Asp325Ala) c.893A>C (p.Asp298Ala) c.758A>C (p.Asp253Ala) c.-254A>C (n.-254A>C) | |
12 | g.101770545T= | CA2058958030 | GNPTAB | c.974A= (p.Asp325=) c.893A= (p.Asp298=) c.758A= (p.Asp253=) c.-254A= (n.-254A=) | |
12 | g.101770546C>A | CA386303312 | GNPTAB | c.973G>T (p.Asp325Tyr) c.892G>T (p.Asp298Tyr) c.757G>T (p.Asp253Tyr) c.-255G>T (n.-255G>T) | COSMIC COSMIC |
12 | g.101770546C>G | CA386303313 | GNPTAB | c.973G>C (p.Asp325His) c.892G>C (p.Asp298His) c.757G>C (p.Asp253His) c.-255G>C (n.-255G>C) | |
12 | g.101770546C>T | CA386303314 | GNPTAB | c.973G>A (p.Asp325Asn) c.892G>A (p.Asp298Asn) c.757G>A (p.Asp253Asn) c.-255G>A (n.-255G>A) | COSMIC |
12 | g.101770547T>A | CA386303315 | GNPTAB | c.972A>T (p.Glu324Asp) c.891A>T (p.Glu297Asp) c.756A>T (p.Glu252Asp) c.-256A>T (n.-256A>T) | |
12 | g.101770547T>C | CA481320771 | GNPTAB | c.972A>G (p.Glu324=) c.891A>G (p.Glu297=) c.756A>G (p.Glu252=) c.-256A>G (n.-256A>G) | COSMIC COSMIC |
12 | g.101770547T>G | CA386303316 | GNPTAB | c.972A>C (p.Glu324Asp) c.891A>C (p.Glu297Asp) c.756A>C (p.Glu252Asp) c.-256A>C (n.-256A>C) | |
12 | g.101770548T>A | CA386303317 | GNPTAB | c.971A>T (p.Glu324Val) c.890A>T (p.Glu297Val) c.755A>T (p.Glu252Val) c.-257A>T (n.-257A>T) | |
12 | g.101770548T>C | CA386303318 | GNPTAB | c.971A>G (p.Glu324Gly) c.890A>G (p.Glu297Gly) c.755A>G (p.Glu252Gly) c.-257A>G (n.-257A>G) | |
12 | g.101770548T>G | CA386303319 | GNPTAB | c.971A>C (p.Glu324Ala) c.890A>C (p.Glu297Ala) c.755A>C (p.Glu252Ala) c.-257A>C (n.-257A>C) | |
12 | g.101770549C>A | CA386303320 | GNPTAB | c.970G>T (p.Glu324Ter) c.889G>T (p.Glu297Ter) c.754G>T (p.Glu252Ter) c.-258G>T (n.-258G>T) | |
12 | g.101770549C>G | CA386303321 | GNPTAB | c.970G>C (p.Glu324Gln) c.889G>C (p.Glu297Gln) c.754G>C (p.Glu252Gln) c.-258G>C (n.-258G>C) | |
12 | g.101770549C>T | CA386303322 | GNPTAB | c.970G>A (p.Glu324Lys) c.889G>A (p.Glu297Lys) c.754G>A (p.Glu252Lys) c.-258G>A (n.-258G>A) | |
12 | g.101770550A>C | CA386303324 | GNPTAB | c.969T>G (p.Phe323Leu) c.888T>G (p.Phe296Leu) c.753T>G (p.Phe251Leu) c.-259T>G (n.-259T>G) | |
12 | g.101770550A>G | CA481320772 | GNPTAB | c.969T>C (p.Phe323=) c.888T>C (p.Phe296=) c.753T>C (p.Phe251=) c.-259T>C (n.-259T>C) | |
12 | g.101770550A>T | CA386303323 | GNPTAB | c.969T>A (p.Phe323Leu) c.888T>A (p.Phe296Leu) c.753T>A (p.Phe251Leu) c.-259T>A (n.-259T>A) | |
12 | g.101770551A= | CA2058958031 | GNPTAB | c.968T= (p.Phe323=) c.887T= (p.Phe296=) c.752T= (p.Phe251=) c.-260T= (n.-260T=) | |
12 | g.101770551A>C | CA386303325 | GNPTAB | c.968T>G (p.Phe323Cys) c.887T>G (p.Phe296Cys) c.752T>G (p.Phe251Cys) c.-260T>G (n.-260T>G) | |
12 | g.101770551A>G | CA386303326 | GNPTAB | c.968T>C (p.Phe323Ser) c.887T>C (p.Phe296Ser) c.752T>C (p.Phe251Ser) c.-260T>C (n.-260T>C) | dbSNP gnomAD v4 |
12 | g.101770551A>T | CA386303327 | GNPTAB | c.968T>A (p.Phe323Tyr) c.887T>A (p.Phe296Tyr) c.752T>A (p.Phe251Tyr) c.-260T>A (n.-260T>A) | |
12 | g.101770552A>C | CA386303328 | GNPTAB | c.967T>G (p.Phe323Val) c.886T>G (p.Phe296Val) c.751T>G (p.Phe251Val) c.-261T>G (n.-261T>G) | |
12 | g.101770552A>G | CA386303329 | GNPTAB | c.967T>C (p.Phe323Leu) c.886T>C (p.Phe296Leu) c.751T>C (p.Phe251Leu) c.-261T>C (n.-261T>C) | |
12 | g.101770552A>T | CA386303330 | GNPTAB | c.967T>A (p.Phe323Ile) c.886T>A (p.Phe296Ile) c.751T>A (p.Phe251Ile) c.-261T>A (n.-261T>A) | |
12 | g.101770553A>C | CA481320775 | GNPTAB | c.966T>G (p.Arg322=) c.885T>G (p.Arg295=) c.750T>G (p.Arg250=) c.-262T>G (n.-262T>G) | |
12 | g.101770553A>G | CA481320774 | GNPTAB | c.966T>C (p.Arg322=) c.885T>C (p.Arg295=) c.750T>C (p.Arg250=) c.-262T>C (n.-262T>C) | |
12 | g.101770553A>T | CA481320773 | GNPTAB | c.966T>A (p.Arg322=) c.885T>A (p.Arg295=) c.750T>A (p.Arg250=) c.-262T>A (n.-262T>A) | |
12 | g.101770554C>A | CA386303331 | GNPTAB | c.965G>T (p.Arg322Leu) c.884G>T (p.Arg295Leu) c.749G>T (p.Arg250Leu) c.-263G>T (n.-263G>T) | |
12 | g.101770554C= | CA2058958032 | GNPTAB | c.965G= (p.Arg322=) c.884G= (p.Arg295=) c.749G= (p.Arg250=) c.-263G= (n.-263G=) | |
12 | g.101770554C>G | CA386303332 | GNPTAB | c.965G>C (p.Arg322Pro) c.884G>C (p.Arg295Pro) c.749G>C (p.Arg250Pro) c.-263G>C (n.-263G>C) | |
12 | g.101770554C>T | CA6746744 | GNPTAB | c.965G>A (p.Arg322His) c.884G>A (p.Arg295His) c.749G>A (p.Arg250His) c.-263G>A (n.-263G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770555G>A | CA386303333 | GNPTAB | c.964C>T (p.Arg322Cys) c.883C>T (p.Arg295Cys) c.748C>T (p.Arg250Cys) c.-264C>T (n.-264C>T) | ClinVar dbSNP gnomAD v4 |
12 | g.101770555G>C | CA386303334 | GNPTAB | c.964C>G (p.Arg322Gly) c.883C>G (p.Arg295Gly) c.748C>G (p.Arg250Gly) c.-264C>G (n.-264C>G) | |
12 | g.101770555G>T | CA386303335 | GNPTAB | c.964C>A (p.Arg322Ser) c.883C>A (p.Arg295Ser) c.748C>A (p.Arg250Ser) c.-264C>A (n.-264C>A) | |
12 | g.101770556A>C | CA386303337 | GNPTAB | c.963T>G (p.Ser321Arg) c.882T>G (p.Ser294Arg) c.747T>G (p.Ser249Arg) c.-265T>G (n.-265T>G) | |
12 | g.101770556A>G | CA481320776 | GNPTAB | c.963T>C (p.Ser321=) c.882T>C (p.Ser294=) c.747T>C (p.Ser249=) c.-265T>C (n.-265T>C) | |
12 | g.101770556A>T | CA386303336 | GNPTAB | c.963T>A (p.Ser321Arg) c.882T>A (p.Ser294Arg) c.747T>A (p.Ser249Arg) c.-265T>A (n.-265T>A) | |
12 | g.101770557C>A | CA386303338 | GNPTAB | c.962G>T (p.Ser321Ile) c.881G>T (p.Ser294Ile) c.746G>T (p.Ser249Ile) c.-266G>T (n.-266G>T) | |
12 | g.101770557C>G | CA386303339 | GNPTAB | c.962G>C (p.Ser321Thr) c.881G>C (p.Ser294Thr) c.746G>C (p.Ser249Thr) c.-266G>C (n.-266G>C) | |
12 | g.101770557C>T | CA386303340 | GNPTAB | c.962G>A (p.Ser321Asn) c.881G>A (p.Ser294Asn) c.746G>A (p.Ser249Asn) c.-266G>A (n.-266G>A) | |
12 | g.101770558T>A | CA386303341 | GNPTAB | c.961A>T (p.Ser321Cys) c.880A>T (p.Ser294Cys) c.745A>T (p.Ser249Cys) c.-267A>T (n.-267A>T) | |
12 | g.101770558T>C | CA284843 | GNPTAB | c.961A>G (p.Ser321Gly) c.880A>G (p.Ser294Gly) c.745A>G (p.Ser249Gly) c.-267A>G (n.-267A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770558T>G | CA386303342 | GNPTAB | c.961A>C (p.Ser321Arg) c.880A>C (p.Ser294Arg) c.745A>C (p.Ser249Arg) c.-267A>C (n.-267A>C) | |
12 | g.101770558T= | CA2058958033 | GNPTAB | c.961A= (p.Ser321=) c.880A= (p.Ser294=) c.745A= (p.Ser249=) c.-267A= (n.-267A=) | |
12 | g.101770559G>A | CA481320779 | GNPTAB | c.960C>T (p.Ala320=) c.879C>T (p.Ala293=) c.744C>T (p.Ala248=) c.-268C>T (n.-268C>T) | ClinVar gnomAD v4 |
12 | g.101770559G>C | CA481320777 | GNPTAB | c.960C>G (p.Ala320=) c.879C>G (p.Ala293=) c.744C>G (p.Ala248=) c.-268C>G (n.-268C>G) | |
12 | g.101770559G>T | CA481320778 | GNPTAB | c.960C>A (p.Ala320=) c.879C>A (p.Ala293=) c.744C>A (p.Ala248=) c.-268C>A (n.-268C>A) | |
12 | g.101770560G>A | CA386303343 | GNPTAB | c.959C>T (p.Ala320Val) c.878C>T (p.Ala293Val) c.743C>T (p.Ala248Val) c.-269C>T (n.-269C>T) | |
12 | g.101770560G>C | CA386303344 | GNPTAB | c.959C>G (p.Ala320Gly) c.878C>G (p.Ala293Gly) c.743C>G (p.Ala248Gly) c.-269C>G (n.-269C>G) | |
12 | g.101770560G>T | CA386303345 | GNPTAB | c.959C>A (p.Ala320Asp) c.878C>A (p.Ala293Asp) c.743C>A (p.Ala248Asp) c.-269C>A (n.-269C>A) | gnomAD v4 COSMIC |
12 | g.101770561C>A | CA386303346 | GNPTAB | c.958G>T (p.Ala320Ser) c.877G>T (p.Ala293Ser) c.742G>T (p.Ala248Ser) c.-270G>T (n.-270G>T) | |
12 | g.101770561C= | CA2058958034 | GNPTAB | c.958G= (p.Ala320=) c.877G= (p.Ala293=) c.742G= (p.Ala248=) c.-270G= (n.-270G=) | |
12 | g.101770561C>G | CA386303347 | GNPTAB | c.958G>C (p.Ala320Pro) c.877G>C (p.Ala293Pro) c.742G>C (p.Ala248Pro) c.-270G>C (n.-270G>C) | |
12 | g.101770561C>T | CA6746745 | GNPTAB | c.958G>A (p.Ala320Thr) c.877G>A (p.Ala293Thr) c.742G>A (p.Ala248Thr) c.-270G>A (n.-270G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101770562A>C | CA481320780 | GNPTAB | c.957T>G (p.Ser319=) c.876T>G (p.Ser292=) c.741T>G (p.Ser247=) c.-271T>G (n.-271T>G) | |
12 | g.101770562A>G | CA481320781 | GNPTAB | c.957T>C (p.Ser319=) c.876T>C (p.Ser292=) c.741T>C (p.Ser247=) c.-271T>C (n.-271T>C) | |
12 | g.101770562A>T | CA481320782 | GNPTAB | c.957T>A (p.Ser319=) c.876T>A (p.Ser292=) c.741T>A (p.Ser247=) c.-271T>A (n.-271T>A) | |
12 | g.101770562dup | CA682731609 | GNPTAB | c.957dup (p.Ala320CysfsTer5) c.876dup (p.Ala293CysfsTer5) c.741dup (p.Ala248CysfsTer5) c.-271dup (n.-271dup) | dbSNP |
12 | g.101770565_101770566del | CA2695217214 | GNPTAB | c.956_957del (p.Ser319CysfsTer5) c.875_876del (p.Ser292CysfsTer5) c.740_741del (p.Ser247CysfsTer5) c.-272_-271del (n.-272_-271del) | |
12 | g.101770563G>A | CA386303349 | GNPTAB | c.956C>T (p.Ser319Phe) c.875C>T (p.Ser292Phe) c.740C>T (p.Ser247Phe) c.-272C>T (n.-272C>T) | gnomAD v4 |
12 | g.101770563G>C | CA386303350 | GNPTAB | c.956C>G (p.Ser319Cys) c.875C>G (p.Ser292Cys) c.740C>G (p.Ser247Cys) c.-272C>G (n.-272C>G) | |
12 | g.101770563G>T | CA386303348 | GNPTAB | c.956C>A (p.Ser319Tyr) c.875C>A (p.Ser292Tyr) c.740C>A (p.Ser247Tyr) c.-272C>A (n.-272C>A) | |
12 | g.101770564A>C | CA386303351 | GNPTAB | c.955T>G (p.Ser319Ala) c.874T>G (p.Ser292Ala) c.739T>G (p.Ser247Ala) c.-273T>G (n.-273T>G) | gnomAD v4 |
12 | g.101770564A>G | CA386303352 | GNPTAB | c.955T>C (p.Ser319Pro) c.874T>C (p.Ser292Pro) c.739T>C (p.Ser247Pro) c.-273T>C (n.-273T>C) | |
12 | g.101770564A>T | CA386303353 | GNPTAB | c.955T>A (p.Ser319Thr) c.874T>A (p.Ser292Thr) c.739T>A (p.Ser247Thr) c.-273T>A (n.-273T>A) | |
12 | g.101770565G>A | CA6746746 | GNPTAB | c.954C>T (p.Ile318=) c.873C>T (p.Ile291=) c.738C>T (p.Ile246=) c.-274C>T (n.-274C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770565G>C | CA386303354 | GNPTAB | c.954C>G (p.Ile318Met) c.873C>G (p.Ile291Met) c.738C>G (p.Ile246Met) c.-274C>G (n.-274C>G) | |
12 | g.101770565G= | CA2058958035 | GNPTAB | c.954C= (p.Ile318=) c.873C= (p.Ile291=) c.738C= (p.Ile246=) c.-274C= (n.-274C=) | |
12 | g.101770565G>T | CA481320783 | GNPTAB | c.954C>A (p.Ile318=) c.873C>A (p.Ile291=) c.738C>A (p.Ile246=) c.-274C>A (n.-274C>A) | |
12 | g.101770566A= | CA2058958036 | GNPTAB | c.953T= (p.Ile318=) c.872T= (p.Ile291=) c.737T= (p.Ile246=) c.-275T= (n.-275T=) | |
12 | g.101770566A>C | CA386303357 | GNPTAB | c.953T>G (p.Ile318Ser) c.872T>G (p.Ile291Ser) c.737T>G (p.Ile246Ser) c.-275T>G (n.-275T>G) | |
12 | g.101770566A>G | CA386303355 | GNPTAB | c.953T>C (p.Ile318Thr) c.872T>C (p.Ile291Thr) c.737T>C (p.Ile246Thr) c.-275T>C (n.-275T>C) | |
12 | g.101770566A>T | CA386303356 | GNPTAB | c.953T>A (p.Ile318Asn) c.872T>A (p.Ile291Asn) c.737T>A (p.Ile246Asn) c.-275T>A (n.-275T>A) | dbSNP |
12 | g.101770567T>A | CA386303358 | GNPTAB | c.952A>T (p.Ile318Phe) c.871A>T (p.Ile291Phe) c.736A>T (p.Ile246Phe) c.-276A>T (n.-276A>T) | |
12 | g.101770567T>C | CA386303359 | GNPTAB | c.952A>G (p.Ile318Val) c.871A>G (p.Ile291Val) c.736A>G (p.Ile246Val) c.-276A>G (n.-276A>G) | |
12 | g.101770567T>G | CA386303360 | GNPTAB | c.952A>C (p.Ile318Leu) c.871A>C (p.Ile291Leu) c.736A>C (p.Ile246Leu) c.-276A>C (n.-276A>C) | |
12 | g.101770568G>A | CA481320784 | GNPTAB | c.951C>T (p.Asp317=) c.870C>T (p.Asp290=) c.735C>T (p.Asp245=) c.-277C>T (n.-277C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770568G>C | CA386303361 | GNPTAB | c.951C>G (p.Asp317Glu) c.870C>G (p.Asp290Glu) c.735C>G (p.Asp245Glu) c.-277C>G (n.-277C>G) | |
12 | g.101770568G= | CA2058958037 | GNPTAB | c.951C= (p.Asp317=) c.870C= (p.Asp290=) c.735C= (p.Asp245=) c.-277C= (n.-277C=) | |
12 | g.101770568G>T | CA386303362 | GNPTAB | c.951C>A (p.Asp317Glu) c.870C>A (p.Asp290Glu) c.735C>A (p.Asp245Glu) c.-277C>A (n.-277C>A) | |
12 | g.101770569T>A | CA386303365 | GNPTAB | c.950A>T (p.Asp317Val) c.869A>T (p.Asp290Val) c.734A>T (p.Asp245Val) c.-278A>T (n.-278A>T) | |
12 | g.101770569T>C | CA386303364 | GNPTAB | c.950A>G (p.Asp317Gly) c.869A>G (p.Asp290Gly) c.734A>G (p.Asp245Gly) c.-278A>G (n.-278A>G) | |
12 | g.101770569T>G | CA386303363 | GNPTAB | c.950A>C (p.Asp317Ala) c.869A>C (p.Asp290Ala) c.734A>C (p.Asp245Ala) c.-278A>C (n.-278A>C) | |
12 | g.101770571_101770573del | CA2620452245 | GNPTAB | c.948_950del (p.Glu316del) c.867_869del (p.Glu289del) c.732_734del (p.Glu244del) c.-280_-278del (n.-280_-278del) | gnomAD v4 |
12 | g.101770570C>A | CA386303366 | GNPTAB | c.949G>T (p.Asp317Tyr) c.868G>T (p.Asp290Tyr) c.733G>T (p.Asp245Tyr) c.-279G>T (n.-279G>T) | |
12 | g.101770570C>G | CA386303367 | GNPTAB | c.949G>C (p.Asp317His) c.868G>C (p.Asp290His) c.733G>C (p.Asp245His) c.-279G>C (n.-279G>C) | |
12 | g.101770570C>T | CA386303368 | GNPTAB | c.949G>A (p.Asp317Asn) c.868G>A (p.Asp290Asn) c.733G>A (p.Asp245Asn) c.-279G>A (n.-279G>A) | |
12 | g.101770571T>A | CA386303369 | GNPTAB | c.948A>T (p.Glu316Asp) c.867A>T (p.Glu289Asp) c.732A>T (p.Glu244Asp) c.-280A>T (n.-280A>T) | |
12 | g.101770571T>C | CA481320785 | GNPTAB | c.948A>G (p.Glu316=) c.867A>G (p.Glu289=) c.732A>G (p.Glu244=) c.-280A>G (n.-280A>G) | gnomAD v4 |
12 | g.101770571T>G | CA386303370 | GNPTAB | c.948A>C (p.Glu316Asp) c.867A>C (p.Glu289Asp) c.732A>C (p.Glu244Asp) c.-280A>C (n.-280A>C) | gnomAD v4 |
12 | g.101770572dup | CA2839028469 | GNPTAB | c.948dup (p.Asp317ArgfsTer8) c.867dup (p.Asp290ArgfsTer8) c.732dup (p.Asp245ArgfsTer8) c.-280dup (n.-280dup) | |
12 | g.101770572T>A | CA386303371 | GNPTAB | c.947A>T (p.Glu316Val) c.866A>T (p.Glu289Val) c.731A>T (p.Glu244Val) c.-281A>T (n.-281A>T) | |
12 | g.101770572T>C | CA386303372 | GNPTAB | c.947A>G (p.Glu316Gly) c.866A>G (p.Glu289Gly) c.731A>G (p.Glu244Gly) c.-281A>G (n.-281A>G) | |
12 | g.101770572T>G | CA386303373 | GNPTAB | c.947A>C (p.Glu316Ala) c.866A>C (p.Glu289Ala) c.731A>C (p.Glu244Ala) c.-281A>C (n.-281A>C) | |
12 | g.101770573C>A | CA386303374 | GNPTAB | c.946G>T (p.Glu316Ter) c.865G>T (p.Glu289Ter) c.730G>T (p.Glu244Ter) c.-282G>T (n.-282G>T) | |
12 | g.101770573C>G | CA386303375 | GNPTAB | c.946G>C (p.Glu316Gln) c.865G>C (p.Glu289Gln) c.730G>C (p.Glu244Gln) c.-282G>C (n.-282G>C) | |
12 | g.101770573C>T | CA386303376 | GNPTAB | c.946G>A (p.Glu316Lys) c.865G>A (p.Glu289Lys) c.730G>A (p.Glu244Lys) c.-282G>A (n.-282G>A) | |
12 | g.101770574A>C | CA386303377 | GNPTAB | c.945T>G (p.Asp315Glu) c.864T>G (p.Asp288Glu) c.729T>G (p.Asp243Glu) c.-283T>G (n.-283T>G) | ClinVar dbSNP gnomAD v4 |
12 | g.101770574A>G | CA481320786 | GNPTAB | c.945T>C (p.Asp315=) c.864T>C (p.Asp288=) c.729T>C (p.Asp243=) c.-283T>C (n.-283T>C) | ClinVar |
12 | g.101770574A>T | CA386303378 | GNPTAB | c.945T>A (p.Asp315Glu) c.864T>A (p.Asp288Glu) c.729T>A (p.Asp243Glu) c.-283T>A (n.-283T>A) | |
12 | g.101770575T>A | CA386303381 | GNPTAB | c.944A>T (p.Asp315Val) c.863A>T (p.Asp288Val) c.728A>T (p.Asp243Val) c.-284A>T (n.-284A>T) | |
12 | g.101770575T>C | CA386303380 | GNPTAB | c.944A>G (p.Asp315Gly) c.863A>G (p.Asp288Gly) c.728A>G (p.Asp243Gly) c.-284A>G (n.-284A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770575T>G | CA386303379 | GNPTAB | c.944A>C (p.Asp315Ala) c.863A>C (p.Asp288Ala) c.728A>C (p.Asp243Ala) c.-284A>C (n.-284A>C) | |
12 | g.101770575T= | CA2058958038 | GNPTAB | c.944A= (p.Asp315=) c.863A= (p.Asp288=) c.728A= (p.Asp243=) c.-284A= (n.-284A=) | |
12 | g.101770576C>A | CA386303382 | GNPTAB | c.943G>T (p.Asp315Tyr) c.862G>T (p.Asp288Tyr) c.727G>T (p.Asp243Tyr) c.-285G>T (n.-285G>T) | |
12 | g.101770576C>G | CA386303383 | GNPTAB | c.943G>C (p.Asp315His) c.862G>C (p.Asp288His) c.727G>C (p.Asp243His) c.-285G>C (n.-285G>C) | |
12 | g.101770576C>T | CA386303384 | GNPTAB | c.943G>A (p.Asp315Asn) c.862G>A (p.Asp288Asn) c.727G>A (p.Asp243Asn) c.-285G>A (n.-285G>A) | gnomAD v4 |
12 | g.101770577C>A | CA386303385 | GNPTAB | c.942G>T (p.Gln314His) c.861G>T (p.Gln287His) c.726G>T (p.Gln242His) c.-286G>T (n.-286G>T) | |
12 | g.101770577C= | CA2058958039 | GNPTAB | c.942G= (p.Gln314=) c.861G= (p.Gln287=) c.726G= (p.Gln242=) c.-286G= (n.-286G=) | |
12 | g.101770577C>G | CA386303386 | GNPTAB | c.942G>C (p.Gln314His) c.861G>C (p.Gln287His) c.726G>C (p.Gln242His) c.-286G>C (n.-286G>C) | |
12 | g.101770577C>T | CA481320787 | GNPTAB | c.942G>A (p.Gln314=) c.861G>A (p.Gln287=) c.726G>A (p.Gln242=) c.-286G>A (n.-286G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770578T>A | CA386303387 | GNPTAB | c.941A>T (p.Gln314Leu) c.860A>T (p.Gln287Leu) c.725A>T (p.Gln242Leu) c.-287A>T (n.-287A>T) | |
12 | g.101770578T>C | CA386303388 | GNPTAB | c.941A>G (p.Gln314Arg) c.860A>G (p.Gln287Arg) c.725A>G (p.Gln242Arg) c.-287A>G (n.-287A>G) | |
12 | g.101770578T>G | CA386303389 | GNPTAB | c.941A>C (p.Gln314Pro) c.860A>C (p.Gln287Pro) c.725A>C (p.Gln242Pro) c.-287A>C (n.-287A>C) | |
12 | g.101770579G>A | CA343418 | GNPTAB | c.940C>T (p.Gln314Ter) c.859C>T (p.Gln287Ter) c.724C>T (p.Gln242Ter) c.-288C>T (n.-288C>T) | ClinVar dbSNP |
12 | g.101770579G>C | CA386303390 | GNPTAB | c.940C>G (p.Gln314Glu) c.859C>G (p.Gln287Glu) c.724C>G (p.Gln242Glu) c.-288C>G (n.-288C>G) | |
12 | g.101770579G= | CA2058958040 | GNPTAB | c.940C= (p.Gln314=) c.859C= (p.Gln287=) c.724C= (p.Gln242=) c.-288C= (n.-288C=) | |
12 | g.101770579G>T | CA386303391 | GNPTAB | c.940C>A (p.Gln314Lys) c.859C>A (p.Gln287Lys) c.724C>A (p.Gln242Lys) c.-288C>A (n.-288C>A) | |
12 | g.101770580C>A | CA6746747 | GNPTAB | c.939G>T (p.Lys313Asn) c.858G>T (p.Lys286Asn) c.723G>T (p.Lys241Asn) c.-289G>T (n.-289G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101770580C= | CA2058958041 | GNPTAB | c.939G= (p.Lys313=) c.858G= (p.Lys286=) c.723G= (p.Lys241=) c.-289G= (n.-289G=) | |
12 | g.101770580C>G | CA386303392 | GNPTAB | c.939G>C (p.Lys313Asn) c.858G>C (p.Lys286Asn) c.723G>C (p.Lys241Asn) c.-289G>C (n.-289G>C) | |
12 | g.101770580C>T | CA481320788 | GNPTAB | c.939G>A (p.Lys313=) c.858G>A (p.Lys286=) c.723G>A (p.Lys241=) c.-289G>A (n.-289G>A) | |
12 | g.101770581T>A | CA386303394 | GNPTAB | c.938A>T (p.Lys313Met) c.857A>T (p.Lys286Met) c.722A>T (p.Lys241Met) c.-290A>T (n.-290A>T) | |
12 | g.101770581T>C | CA386303395 | GNPTAB | c.938A>G (p.Lys313Arg) c.857A>G (p.Lys286Arg) c.722A>G (p.Lys241Arg) c.-290A>G (n.-290A>G) | |
12 | g.101770581T>G | CA386303393 | GNPTAB | c.938A>C (p.Lys313Thr) c.857A>C (p.Lys286Thr) c.722A>C (p.Lys241Thr) c.-290A>C (n.-290A>C) | |
12 | g.101770582del | CA2575265076 | GNPTAB | c.938del (p.Lys313SerfsTer17) c.857del (p.Lys286SerfsTer17) c.722del (p.Lys241SerfsTer17) c.-290del (n.-290del) | |
12 | g.101770582T>A | CA386303396 | GNPTAB | c.937A>T (p.Lys313Ter) c.856A>T (p.Lys286Ter) c.721A>T (p.Lys241Ter) c.-291A>T (n.-291A>T) | |
12 | g.101770582T>C | CA242462661 | GNPTAB | c.937A>G (p.Lys313Glu) c.856A>G (p.Lys286Glu) c.721A>G (p.Lys241Glu) c.-291A>G (n.-291A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770582T>G | CA386303397 | GNPTAB | c.937A>C (p.Lys313Gln) c.856A>C (p.Lys286Gln) c.721A>C (p.Lys241Gln) c.-291A>C (n.-291A>C) | |
12 | g.101770582T= | CA2058958042 | GNPTAB | c.937A= (p.Lys313=) c.856A= (p.Lys286=) c.721A= (p.Lys241=) c.-291A= (n.-291A=) | |
12 | g.101770583A= | CA2058958043 | GNPTAB | c.936T= (p.Ser312=) c.855T= (p.Ser285=) c.720T= (p.Ser240=) c.-292T= (n.-292T=) | |
12 | g.101770583A>C | CA481320789 | GNPTAB | c.936T>G (p.Ser312=) c.855T>G (p.Ser285=) c.720T>G (p.Ser240=) c.-292T>G (n.-292T>G) | |
12 | g.101770583A>G | CA481320790 | GNPTAB | c.936T>C (p.Ser312=) c.855T>C (p.Ser285=) c.720T>C (p.Ser240=) c.-292T>C (n.-292T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770583A>T | CA481320791 | GNPTAB | c.936T>A (p.Ser312=) c.855T>A (p.Ser285=) c.720T>A (p.Ser240=) c.-292T>A (n.-292T>A) | |
12 | g.101770584G>A | CA386303398 | GNPTAB | c.935C>T (p.Ser312Phe) c.854C>T (p.Ser285Phe) c.719C>T (p.Ser240Phe) c.-293C>T (n.-293C>T) | |
12 | g.101770584G>C | CA386303399 | GNPTAB | c.935C>G (p.Ser312Cys) c.854C>G (p.Ser285Cys) c.719C>G (p.Ser240Cys) c.-293C>G (n.-293C>G) | |
12 | g.101770584G>T | CA386303400 | GNPTAB | c.935C>A (p.Ser312Tyr) c.854C>A (p.Ser285Tyr) c.719C>A (p.Ser240Tyr) c.-293C>A (n.-293C>A) | |
12 | g.101770585A>C | CA386303401 | GNPTAB | c.934T>G (p.Ser312Ala) c.853T>G (p.Ser285Ala) c.718T>G (p.Ser240Ala) c.-294T>G (n.-294T>G) | |
12 | g.101770585A>G | CA386303402 | GNPTAB | c.934T>C (p.Ser312Pro) c.853T>C (p.Ser285Pro) c.718T>C (p.Ser240Pro) c.-294T>C (n.-294T>C) | dbSNP gnomAD v4 |
12 | g.101770585A>T | CA386303403 | GNPTAB | c.934T>A (p.Ser312Thr) c.853T>A (p.Ser285Thr) c.718T>A (p.Ser240Thr) c.-294T>A (n.-294T>A) | |
12 | g.101770586C>A | CA386303404 | GNPTAB | c.934-1G>T (n.934-1G>T) c.853-1G>T (n.853-1G>T) c.718-1G>T (n.718-1G>T) c.-295G>T (n.-295G>T) | |
12 | g.101770586C= | CA2058958044 | GNPTAB | c.934-1G= (n.934-1G=) c.853-1G= (n.853-1G=) c.718-1G= (n.718-1G=) c.-295G= (n.-295G=) | |
12 | g.101770586C>G | CA386303405 | GNPTAB | c.934-1G>C (n.934-1G>C) c.853-1G>C (n.853-1G>C) c.718-1G>C (n.718-1G>C) c.-295G>C (n.-295G>C) | |
12 | g.101770586C>T | CA386303406 | GNPTAB | c.934-1G>A (n.934-1G>A) c.853-1G>A (n.853-1G>A) c.718-1G>A (n.718-1G>A) c.-295G>A (n.-295G>A) | dbSNP gnomAD v2 |
12 | g.101770587T>A | CA386303409 | GNPTAB | c.934-2A>T (n.934-2A>T) c.853-2A>T (n.853-2A>T) c.718-2A>T (n.718-2A>T) c.-296A>T (n.-296A>T) | |
12 | g.101770587T>C | CA386303407 | GNPTAB | c.934-2A>G (n.934-2A>G) c.853-2A>G (n.853-2A>G) c.718-2A>G (n.718-2A>G) c.-296A>G (n.-296A>G) | gnomAD v4 |
12 | g.101770587T>G | CA386303408 | GNPTAB | c.934-2A>C (n.934-2A>C) c.853-2A>C (n.853-2A>C) c.718-2A>C (n.718-2A>C) c.-296A>C (n.-296A>C) | |
12 | g.101770588G>A | CA2620444393 | GNPTAB | c.934-3C>T (n.934-3C>T) c.853-3C>T (n.853-3C>T) c.718-3C>T (n.718-3C>T) c.-297C>T (n.-297C>T) | gnomAD v4 |
12 | g.101770588G>T | CA2620444396 | GNPTAB | c.934-3C>A (n.934-3C>A) c.853-3C>A (n.853-3C>A) c.718-3C>A (n.718-3C>A) c.-297C>A (n.-297C>A) | gnomAD v4 |
12 | g.101770590_101770591del | CA2575265077 | GNPTAB | c.934-4_934-3del (n.934-4_934-3del) c.853-4_853-3del (n.853-4_853-3del) c.718-4_718-3del (n.718-4_718-3del) c.-298_-297del (n.-298_-297del) | |
12 | g.101770591A= | CA2058958045 | GNPTAB | c.934-6T= (n.934-6T=) c.853-6T= (n.853-6T=) c.718-6T= (n.718-6T=) c.-300T= (n.-300T=) | |
12 | g.101770591A>C | CA6746748 | GNPTAB | c.934-6T>G (n.934-6T>G) c.853-6T>G (n.853-6T>G) c.718-6T>G (n.718-6T>G) c.-300T>G (n.-300T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101770591A>G | CA607154345 | GNPTAB | c.934-6T>C (n.934-6T>C) c.853-6T>C (n.853-6T>C) c.718-6T>C (n.718-6T>C) c.-300T>C (n.-300T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770591A>T | CA607154346 | GNPTAB | c.934-6T>A (n.934-6T>A) c.853-6T>A (n.853-6T>A) c.718-6T>A (n.718-6T>A) c.-300T>A (n.-300T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770595dup | CA2499221396 | GNPTAB | c.934-6dup (n.934-6dup) c.853-6dup (n.853-6dup) c.718-6dup (n.718-6dup) c.-300dup (n.-300dup) | ClinVar dbSNP |
12 | g.101770595del | CA2620444420 | GNPTAB | c.934-6del (n.934-6del) c.853-6del (n.853-6del) c.718-6del (n.718-6del) c.-300del (n.-300del) | gnomAD v4 |
12 | g.101770593A>G | CA2499221397 | GNPTAB | c.934-8T>C (n.934-8T>C) c.853-8T>C (n.853-8T>C) c.718-8T>C (n.718-8T>C) c.-302T>C (n.-302T>C) | ClinVar dbSNP |
12 | g.101770597A= | CA2058958046 | GNPTAB | c.934-12T= (n.934-12T=) c.853-12T= (n.853-12T=) c.718-12T= (n.718-12T=) c.-306T= (n.-306T=) | |
12 | g.101770597A>G | CA682731666 | GNPTAB | c.934-12T>C (n.934-12T>C) c.853-12T>C (n.853-12T>C) c.718-12T>C (n.718-12T>C) c.-306T>C (n.-306T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770597A>T | CA2575265078 | GNPTAB | c.934-12T>A (n.934-12T>A) c.853-12T>A (n.853-12T>A) c.718-12T>A (n.718-12T>A) c.-306T>A (n.-306T>A) | |
12 | g.101770599T>A | CA6746749 | GNPTAB | c.934-14A>T (n.934-14A>T) c.853-14A>T (n.853-14A>T) c.718-14A>T (n.718-14A>T) c.-308A>T (n.-308A>T) | dbSNP ExAC gnomAD v2 |
12 | g.101770599T>C | CA951153183 | GNPTAB | c.934-14A>G (n.934-14A>G) c.853-14A>G (n.853-14A>G) c.718-14A>G (n.718-14A>G) c.-308A>G (n.-308A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770599T= | CA2058958047 | GNPTAB | c.934-14A= (n.934-14A=) c.853-14A= (n.853-14A=) c.718-14A= (n.718-14A=) c.-308A= (n.-308A=) | |
12 | g.101770600T>G | CA2058958049 | GNPTAB | c.934-15A>C (n.934-15A>C) c.853-15A>C (n.853-15A>C) c.718-15A>C (n.718-15A>C) c.-309A>C (n.-309A>C) | dbSNP gnomAD v4 |
12 | g.101770600T= | CA2058958048 | GNPTAB | c.934-15A= (n.934-15A=) c.853-15A= (n.853-15A=) c.718-15A= (n.718-15A=) c.-309A= (n.-309A=) | |
12 | g.101770601G>A | CA6746750 | GNPTAB | c.934-16C>T (n.934-16C>T) c.853-16C>T (n.853-16C>T) c.718-16C>T (n.718-16C>T) c.-310C>T (n.-310C>T) | dbSNP ExAC gnomAD v2 |
12 | g.101770601G>C | CA2620444429 | GNPTAB | c.934-16C>G (n.934-16C>G) c.853-16C>G (n.853-16C>G) c.718-16C>G (n.718-16C>G) c.-310C>G (n.-310C>G) | gnomAD v4 |
12 | g.101770601G= | CA2058958050 | GNPTAB | c.934-16C= (n.934-16C=) c.853-16C= (n.853-16C=) c.718-16C= (n.718-16C=) c.-310C= (n.-310C=) | |
12 | g.101770601G>T | CA2620444434 | GNPTAB | c.934-16C>A (n.934-16C>A) c.853-16C>A (n.853-16C>A) c.718-16C>A (n.718-16C>A) c.-310C>A (n.-310C>A) | gnomAD v4 |
12 | g.101770602G>A | CA2620444438 | GNPTAB | c.934-17C>T (n.934-17C>T) c.853-17C>T (n.853-17C>T) c.718-17C>T (n.718-17C>T) c.-311C>T (n.-311C>T) | gnomAD v4 |
12 | g.101770602G>T | CA2620444439 | GNPTAB | c.934-17C>A (n.934-17C>A) c.853-17C>A (n.853-17C>A) c.718-17C>A (n.718-17C>A) c.-311C>A (n.-311C>A) | gnomAD v4 |
12 | g.101770603C>T | CA2620444441 | GNPTAB | c.934-18G>A (n.934-18G>A) c.853-18G>A (n.853-18G>A) c.718-18G>A (n.718-18G>A) c.-312G>A (n.-312G>A) | gnomAD v4 |
12 | g.101770604A= | CA2058958051 | GNPTAB | c.934-19T= (n.934-19T=) c.853-19T= (n.853-19T=) c.718-19T= (n.718-19T=) c.-313T= (n.-313T=) | |
12 | g.101770604A>G | CA6746751 | GNPTAB | c.934-19T>C (n.934-19T>C) c.853-19T>C (n.853-19T>C) c.718-19T>C (n.718-19T>C) c.-313T>C (n.-313T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770604A>T | CA2058958052 | GNPTAB | c.934-19T>A (n.934-19T>A) c.853-19T>A (n.853-19T>A) c.718-19T>A (n.718-19T>A) c.-313T>A (n.-313T>A) | dbSNP gnomAD v4 |
12 | g.101770605T>C | CA242462688 | GNPTAB | c.934-20A>G (n.934-20A>G) c.853-20A>G (n.853-20A>G) c.718-20A>G (n.718-20A>G) c.-314A>G (n.-314A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770605T= | CA2058958053 | GNPTAB | c.934-20A= (n.934-20A=) c.853-20A= (n.853-20A=) c.718-20A= (n.718-20A=) c.-314A= (n.-314A=) | |
12 | g.101770606A>G | CA2620444458 | GNPTAB | c.934-21T>C (n.934-21T>C) c.853-21T>C (n.853-21T>C) c.718-21T>C (n.718-21T>C) c.-315T>C (n.-315T>C) | gnomAD v4 |
12 | g.101770607T>C | CA2620444460 | GNPTAB | c.934-22A>G (n.934-22A>G) c.853-22A>G (n.853-22A>G) c.718-22A>G (n.718-22A>G) c.-316A>G (n.-316A>G) | gnomAD v4 |
12 | g.101770608G>T | CA2620444462 | GNPTAB | c.934-23C>A (n.934-23C>A) c.853-23C>A (n.853-23C>A) c.718-23C>A (n.718-23C>A) c.-317C>A (n.-317C>A) | gnomAD v4 |
12 | g.101770609A>G | CA2620444465 | GNPTAB | c.934-24T>C (n.934-24T>C) c.853-24T>C (n.853-24T>C) c.718-24T>C (n.718-24T>C) c.-318T>C (n.-318T>C) | gnomAD v4 |
12 | g.101770611G>A | CA2620444466 | GNPTAB | c.934-26C>T (n.934-26C>T) c.853-26C>T (n.853-26C>T) c.718-26C>T (n.718-26C>T) c.-320C>T (n.-320C>T) | gnomAD v4 |
12 | g.101770611G= | CA2058958054 | GNPTAB | c.934-26C= (n.934-26C=) c.853-26C= (n.853-26C=) c.718-26C= (n.718-26C=) c.-320C= (n.-320C=) | |
12 | g.101770611G>T | CA2058958055 | GNPTAB | c.934-26C>A (n.934-26C>A) c.853-26C>A (n.853-26C>A) c.718-26C>A (n.718-26C>A) c.-320C>A (n.-320C>A) | dbSNP gnomAD v4 |
12 | g.101770613T>C | CA2620444469 | GNPTAB | c.934-28A>G (n.934-28A>G) c.853-28A>G (n.853-28A>G) c.718-28A>G (n.718-28A>G) c.-322A>G (n.-322A>G) | gnomAD v4 |
12 | g.101770614G>T | CA2620444472 | GNPTAB | c.934-29C>A (n.934-29C>A) c.853-29C>A (n.853-29C>A) c.718-29C>A (n.718-29C>A) c.-323C>A (n.-323C>A) | gnomAD v4 |
12 | g.101770615T>A | CA2620444473 | GNPTAB | c.934-30A>T (n.934-30A>T) c.853-30A>T (n.853-30A>T) c.718-30A>T (n.718-30A>T) c.-324A>T (n.-324A>T) | gnomAD v4 |
12 | g.101770615T>C | CA951153189 | GNPTAB | c.934-30A>G (n.934-30A>G) c.853-30A>G (n.853-30A>G) c.718-30A>G (n.718-30A>G) c.-324A>G (n.-324A>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770615T>G | CA2620444474 | GNPTAB | c.934-30A>C (n.934-30A>C) c.853-30A>C (n.853-30A>C) c.718-30A>C (n.718-30A>C) c.-324A>C (n.-324A>C) | gnomAD v4 |
12 | g.101770615T= | CA2058958056 | GNPTAB | c.934-30A= (n.934-30A=) c.853-30A= (n.853-30A=) c.718-30A= (n.718-30A=) c.-324A= (n.-324A=) |