Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32365018_32365042delCA2580100677DMDc.5008_5025+7del
c.976_993+7del
c.4996_5013+7del
c.256_273+7del
c.94-327_94-303del (n.94-327_94-303del)
n.336-147974_336-147950del
c.4984_5001+7del
c.4639_4656+7del
c.985_1002+7del
c.4879_4896+7del
ClinVar
Xg.32365027dupCA645619989DMDc.5021dup (p.Leu1674PhefsTer12)
c.989dup (p.Leu330PhefsTer12)
c.5009dup (p.Leu1670PhefsTer12)
c.269dup (p.Leu90PhefsTer12)
c.94-314dup (n.94-314dup)
n.336-147961dup
c.4997dup (p.Leu1666PhefsTer12)
c.4652dup (p.Leu1551PhefsTer12)
c.998dup (p.Leu333PhefsTer12)
c.4892dup (p.Leu1631PhefsTer12)
COSMIC COSMIC
Xg.32365027delCA2580100682DMDc.5021del (p.Leu1674CysfsTer?)
c.989del (p.Leu330CysfsTer?)
c.5009del (p.Leu1670CysfsTer?)
c.269del (p.Leu90CysfsTer?)
c.94-314del (n.94-314del)
n.336-147961del
c.4997del (p.Leu1666CysfsTer?)
c.4652del (p.Leu1551CysfsTer?)
c.998del (p.Leu333CysfsTer?)
c.4892del (p.Leu1631CysfsTer?)
ClinVar
Xg.32365025A>CCA412671753DMDc.5020T>G (p.Leu1674Val)
c.988T>G (p.Leu330Val)
c.5008T>G (p.Leu1670Val)
c.268T>G (p.Leu90Val)
c.94-315T>G (n.94-315T>G)
n.336-147962T>G
c.4996T>G (p.Leu1666Val)
c.4651T>G (p.Leu1551Val)
c.997T>G (p.Leu333Val)
c.4891T>G (p.Leu1631Val)
Xg.32365025A>GCA515714742DMDc.5020T>C (p.Leu1674=)
c.988T>C (p.Leu330=)
c.5008T>C (p.Leu1670=)
c.268T>C (p.Leu90=)
c.94-315T>C (n.94-315T>C)
n.336-147962T>C
c.4996T>C (p.Leu1666=)
c.4651T>C (p.Leu1551=)
c.997T>C (p.Leu333=)
c.4891T>C (p.Leu1631=)
Xg.32365025A>TCA412671754DMDc.5020T>A (p.Leu1674Met)
c.988T>A (p.Leu330Met)
c.5008T>A (p.Leu1670Met)
c.268T>A (p.Leu90Met)
c.94-315T>A (n.94-315T>A)
n.336-147962T>A
c.4996T>A (p.Leu1666Met)
c.4651T>A (p.Leu1551Met)
c.997T>A (p.Leu333Met)
c.4891T>A (p.Leu1631Met)
COSMIC COSMIC COSMIC COSMIC
Xg.32365025_32365026insTCA515714743DMDc.5019_5020insA (p.Leu1674IlefsTer12)
c.987_988insA (p.Leu330IlefsTer12)
c.5007_5008insA (p.Leu1670IlefsTer12)
c.267_268insA (p.Leu90IlefsTer12)
c.94-316_94-315insA (n.94-316_94-315insA)
n.336-147963_336-147962insA
c.4995_4996insA (p.Leu1666IlefsTer12)
c.4650_4651insA (p.Leu1551IlefsTer12)
c.996_997insA (p.Leu333IlefsTer12)
c.4890_4891insA (p.Leu1631IlefsTer12)
Xg.32365026A>CCA515714745DMDc.5019T>G (p.Leu1673=)
c.987T>G (p.Leu329=)
c.5007T>G (p.Leu1669=)
c.267T>G (p.Leu89=)
c.94-316T>G (n.94-316T>G)
n.336-147963T>G
c.4995T>G (p.Leu1665=)
c.4650T>G (p.Leu1550=)
c.996T>G (p.Leu332=)
c.4890T>G (p.Leu1630=)
Xg.32365026A>GCA515714746DMDc.5019T>C (p.Leu1673=)
c.987T>C (p.Leu329=)
c.5007T>C (p.Leu1669=)
c.267T>C (p.Leu89=)
c.94-316T>C (n.94-316T>C)
n.336-147963T>C
c.4995T>C (p.Leu1665=)
c.4650T>C (p.Leu1550=)
c.996T>C (p.Leu332=)
c.4890T>C (p.Leu1630=)
Xg.32365026A>TCA515714744DMDc.5019T>A (p.Leu1673=)
c.987T>A (p.Leu329=)
c.5007T>A (p.Leu1669=)
c.267T>A (p.Leu89=)
c.94-316T>A (n.94-316T>A)
n.336-147963T>A
c.4995T>A (p.Leu1665=)
c.4650T>A (p.Leu1550=)
c.996T>A (p.Leu332=)
c.4890T>A (p.Leu1630=)
Xg.32365027A>CCA412671755DMDc.5018T>G (p.Leu1673Arg)
c.986T>G (p.Leu329Arg)
c.5006T>G (p.Leu1669Arg)
c.266T>G (p.Leu89Arg)
c.94-317T>G (n.94-317T>G)
n.336-147964T>G
c.4994T>G (p.Leu1665Arg)
c.4649T>G (p.Leu1550Arg)
c.995T>G (p.Leu332Arg)
c.4889T>G (p.Leu1630Arg)
Xg.32365027A>GCA412671756DMDc.5018T>C (p.Leu1673Pro)
c.986T>C (p.Leu329Pro)
c.5006T>C (p.Leu1669Pro)
c.266T>C (p.Leu89Pro)
c.94-317T>C (n.94-317T>C)
n.336-147964T>C
c.4994T>C (p.Leu1665Pro)
c.4649T>C (p.Leu1550Pro)
c.995T>C (p.Leu332Pro)
c.4889T>C (p.Leu1630Pro)
Xg.32365027A>TCA412671757DMDc.5018T>A (p.Leu1673His)
c.986T>A (p.Leu329His)
c.5006T>A (p.Leu1669His)
c.266T>A (p.Leu89His)
c.94-317T>A (n.94-317T>A)
n.336-147964T>A
c.4994T>A (p.Leu1665His)
c.4649T>A (p.Leu1550His)
c.995T>A (p.Leu332His)
c.4889T>A (p.Leu1630His)
Xg.32365028delCA2695234102DMDc.5017del (p.Leu1673PhefsTer?)
c.985del (p.Leu329PhefsTer?)
c.5005del (p.Leu1669PhefsTer?)
c.265del (p.Leu89PhefsTer?)
c.94-318del (n.94-318del)
n.336-147965del
c.4993del (p.Leu1665PhefsTer?)
c.4648del (p.Leu1550PhefsTer?)
c.994del (p.Leu332PhefsTer?)
c.4888del (p.Leu1630PhefsTer?)
Xg.32365028G>ACA412671758DMDc.5017C>T (p.Leu1673Phe)
c.985C>T (p.Leu329Phe)
c.5005C>T (p.Leu1669Phe)
c.265C>T (p.Leu89Phe)
c.94-318C>T (n.94-318C>T)
n.336-147965C>T
c.4993C>T (p.Leu1665Phe)
c.4648C>T (p.Leu1550Phe)
c.994C>T (p.Leu332Phe)
c.4888C>T (p.Leu1630Phe)
Xg.32365028G>CCA412671759DMDc.5017C>G (p.Leu1673Val)
c.985C>G (p.Leu329Val)
c.5005C>G (p.Leu1669Val)
c.265C>G (p.Leu89Val)
c.94-318C>G (n.94-318C>G)
n.336-147965C>G
c.4993C>G (p.Leu1665Val)
c.4648C>G (p.Leu1550Val)
c.994C>G (p.Leu332Val)
c.4888C>G (p.Leu1630Val)
COSMIC COSMIC COSMIC COSMIC
Xg.32365028G>TCA412671760DMDc.5017C>A (p.Leu1673Ile)
c.985C>A (p.Leu329Ile)
c.5005C>A (p.Leu1669Ile)
c.265C>A (p.Leu89Ile)
c.94-318C>A (n.94-318C>A)
n.336-147965C>A
c.4993C>A (p.Leu1665Ile)
c.4648C>A (p.Leu1550Ile)
c.994C>A (p.Leu332Ile)
c.4888C>A (p.Leu1630Ile)
Xg.32365029A=CA2422770092DMDc.5016T= (p.Asn1672=)
c.984T= (p.Asn328=)
c.5004T= (p.Asn1668=)
c.264T= (p.Asn88=)
c.94-319T= (n.94-319T=)
n.336-147966T=
c.4992T= (p.Asn1664=)
c.4647T= (p.Asn1549=)
c.993T= (p.Asn331=)
c.4887T= (p.Asn1629=)
Xg.32365029A>CCA412671761DMDc.5016T>G (p.Asn1672Lys)
c.984T>G (p.Asn328Lys)
c.5004T>G (p.Asn1668Lys)
c.264T>G (p.Asn88Lys)
c.94-319T>G (n.94-319T>G)
n.336-147966T>G
c.4992T>G (p.Asn1664Lys)
c.4647T>G (p.Asn1549Lys)
c.993T>G (p.Asn331Lys)
c.4887T>G (p.Asn1629Lys)
Xg.32365029A>GCA515714747DMDc.5016T>C (p.Asn1672=)
c.984T>C (p.Asn328=)
c.5004T>C (p.Asn1668=)
c.264T>C (p.Asn88=)
c.94-319T>C (n.94-319T>C)
n.336-147966T>C
c.4992T>C (p.Asn1664=)
c.4647T>C (p.Asn1549=)
c.993T>C (p.Asn331=)
c.4887T>C (p.Asn1629=)
gnomAD v4
Xg.32365029A>TCA285574DMDc.5016T>A (p.Asn1672Lys)
c.984T>A (p.Asn328Lys)
c.5004T>A (p.Asn1668Lys)
c.264T>A (p.Asn88Lys)
c.94-319T>A (n.94-319T>A)
n.336-147966T>A
c.4992T>A (p.Asn1664Lys)
c.4647T>A (p.Asn1549Lys)
c.993T>A (p.Asn331Lys)
c.4887T>A (p.Asn1629Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365030T>ACA412671762DMDc.5015A>T (p.Asn1672Ile)
c.983A>T (p.Asn328Ile)
c.5003A>T (p.Asn1668Ile)
c.263A>T (p.Asn88Ile)
c.94-320A>T (n.94-320A>T)
n.336-147967A>T
c.4991A>T (p.Asn1664Ile)
c.4646A>T (p.Asn1549Ile)
c.992A>T (p.Asn331Ile)
c.4886A>T (p.Asn1629Ile)
Xg.32365030T>CCA412671763DMDc.5015A>G (p.Asn1672Ser)
c.983A>G (p.Asn328Ser)
c.5003A>G (p.Asn1668Ser)
c.263A>G (p.Asn88Ser)
c.94-320A>G (n.94-320A>G)
n.336-147967A>G
c.4991A>G (p.Asn1664Ser)
c.4646A>G (p.Asn1549Ser)
c.992A>G (p.Asn331Ser)
c.4886A>G (p.Asn1629Ser)
Xg.32365030T>GCA412671764DMDc.5015A>C (p.Asn1672Thr)
c.983A>C (p.Asn328Thr)
c.5003A>C (p.Asn1668Thr)
c.263A>C (p.Asn88Thr)
c.94-320A>C (n.94-320A>C)
n.336-147967A>C
c.4991A>C (p.Asn1664Thr)
c.4646A>C (p.Asn1549Thr)
c.992A>C (p.Asn331Thr)
c.4886A>C (p.Asn1629Thr)
ClinVar
Xg.32365032delCA2695234103DMDc.5015del (p.Asn1672IlefsTer?)
c.983del (p.Asn328IlefsTer?)
c.5003del (p.Asn1668IlefsTer?)
c.263del (p.Asn88IlefsTer?)
c.94-320del (n.94-320del)
n.336-147967del
c.4991del (p.Asn1664IlefsTer?)
c.4646del (p.Asn1549IlefsTer?)
c.992del (p.Asn331IlefsTer?)
c.4886del (p.Asn1629IlefsTer?)
Xg.32365031T>ACA412671765DMDc.5014A>T (p.Asn1672Tyr)
c.982A>T (p.Asn328Tyr)
c.5002A>T (p.Asn1668Tyr)
c.262A>T (p.Asn88Tyr)
c.94-321A>T (n.94-321A>T)
n.336-147968A>T
c.4990A>T (p.Asn1664Tyr)
c.4645A>T (p.Asn1549Tyr)
c.991A>T (p.Asn331Tyr)
c.4885A>T (p.Asn1629Tyr)
dbSNP
Xg.32365031T>CCA412671767DMDc.5014A>G (p.Asn1672Asp)
c.982A>G (p.Asn328Asp)
c.5002A>G (p.Asn1668Asp)
c.262A>G (p.Asn88Asp)
c.94-321A>G (n.94-321A>G)
n.336-147968A>G
c.4990A>G (p.Asn1664Asp)
c.4645A>G (p.Asn1549Asp)
c.991A>G (p.Asn331Asp)
c.4885A>G (p.Asn1629Asp)
Xg.32365031T>GCA412671766DMDc.5014A>C (p.Asn1672His)
c.982A>C (p.Asn328His)
c.5002A>C (p.Asn1668His)
c.262A>C (p.Asn88His)
c.94-321A>C (n.94-321A>C)
n.336-147968A>C
c.4990A>C (p.Asn1664His)
c.4645A>C (p.Asn1549His)
c.991A>C (p.Asn331His)
c.4885A>C (p.Asn1629His)
Xg.32365031T=CA2422770093DMDc.5014A= (p.Asn1672=)
c.982A= (p.Asn328=)
c.5002A= (p.Asn1668=)
c.262A= (p.Asn88=)
c.94-321A= (n.94-321A=)
n.336-147968A=
c.4990A= (p.Asn1664=)
c.4645A= (p.Asn1549=)
c.991A= (p.Asn331=)
c.4885A= (p.Asn1629=)
Xg.32365032T>ACA412671768DMDc.5013A>T (p.Leu1671Phe)
c.981A>T (p.Leu327Phe)
c.5001A>T (p.Leu1667Phe)
c.261A>T (p.Leu87Phe)
c.94-322A>T (n.94-322A>T)
n.336-147969A>T
c.4989A>T (p.Leu1663Phe)
c.4644A>T (p.Leu1548Phe)
c.990A>T (p.Leu330Phe)
c.4884A>T (p.Leu1628Phe)
dbSNP
Xg.32365032T>CCA10378808DMDc.5013A>G (p.Leu1671=)
c.981A>G (p.Leu327=)
c.5001A>G (p.Leu1667=)
c.261A>G (p.Leu87=)
c.94-322A>G (n.94-322A>G)
n.336-147969A>G
c.4989A>G (p.Leu1663=)
c.4644A>G (p.Leu1548=)
c.990A>G (p.Leu330=)
c.4884A>G (p.Leu1628=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32365032T>GCA412671769DMDc.5013A>C (p.Leu1671Phe)
c.981A>C (p.Leu327Phe)
c.5001A>C (p.Leu1667Phe)
c.261A>C (p.Leu87Phe)
c.94-322A>C (n.94-322A>C)
n.336-147969A>C
c.4989A>C (p.Leu1663Phe)
c.4644A>C (p.Leu1548Phe)
c.990A>C (p.Leu330Phe)
c.4884A>C (p.Leu1628Phe)
Xg.32365032T=CA2422770094DMDc.5013A= (p.Leu1671=)
c.981A= (p.Leu327=)
c.5001A= (p.Leu1667=)
c.261A= (p.Leu87=)
c.94-322A= (n.94-322A=)
n.336-147969A=
c.4989A= (p.Leu1663=)
c.4644A= (p.Leu1548=)
c.990A= (p.Leu330=)
c.4884A= (p.Leu1628=)
Xg.32365033A=CA2422770095DMDc.5012T= (p.Leu1671=)
c.980T= (p.Leu327=)
c.5000T= (p.Leu1667=)
c.260T= (p.Leu87=)
c.94-323T= (n.94-323T=)
n.336-147970T=
c.4988T= (p.Leu1663=)
c.4643T= (p.Leu1548=)
c.989T= (p.Leu330=)
c.4883T= (p.Leu1628=)
Xg.32365033A>CCA412671771DMDc.5012T>G (p.Leu1671Ter)
c.980T>G (p.Leu327Ter)
c.5000T>G (p.Leu1667Ter)
c.260T>G (p.Leu87Ter)
c.94-323T>G (n.94-323T>G)
n.336-147970T>G
c.4988T>G (p.Leu1663Ter)
c.4643T>G (p.Leu1548Ter)
c.989T>G (p.Leu330Ter)
c.4883T>G (p.Leu1628Ter)
ClinVar
Xg.32365033A>GCA412671773DMDc.5012T>C (p.Leu1671Ser)
c.980T>C (p.Leu327Ser)
c.5000T>C (p.Leu1667Ser)
c.260T>C (p.Leu87Ser)
c.94-323T>C (n.94-323T>C)
n.336-147970T>C
c.4988T>C (p.Leu1663Ser)
c.4643T>C (p.Leu1548Ser)
c.989T>C (p.Leu330Ser)
c.4883T>C (p.Leu1628Ser)
Xg.32365033A>TCA412671775DMDc.5012T>A (p.Leu1671Ter)
c.980T>A (p.Leu327Ter)
c.5000T>A (p.Leu1667Ter)
c.260T>A (p.Leu87Ter)
c.94-323T>A (n.94-323T>A)
n.336-147970T>A
c.4988T>A (p.Leu1663Ter)
c.4643T>A (p.Leu1548Ter)
c.989T>A (p.Leu330Ter)
c.4883T>A (p.Leu1628Ter)
ClinVar dbSNP
Xg.32365034A>CCA412671776DMDc.5011T>G (p.Leu1671Val)
c.979T>G (p.Leu327Val)
c.4999T>G (p.Leu1667Val)
c.259T>G (p.Leu87Val)
c.94-324T>G (n.94-324T>G)
n.336-147971T>G
c.4987T>G (p.Leu1663Val)
c.4642T>G (p.Leu1548Val)
c.988T>G (p.Leu330Val)
c.4882T>G (p.Leu1628Val)
Xg.32365034A>GCA515714748DMDc.5011T>C (p.Leu1671=)
c.979T>C (p.Leu327=)
c.4999T>C (p.Leu1667=)
c.259T>C (p.Leu87=)
c.94-324T>C (n.94-324T>C)
n.336-147971T>C
c.4987T>C (p.Leu1663=)
c.4642T>C (p.Leu1548=)
c.988T>C (p.Leu330=)
c.4882T>C (p.Leu1628=)
Xg.32365034A>TCA412671778DMDc.5011T>A (p.Leu1671Ile)
c.979T>A (p.Leu327Ile)
c.4999T>A (p.Leu1667Ile)
c.259T>A (p.Leu87Ile)
c.94-324T>A (n.94-324T>A)
n.336-147971T>A
c.4987T>A (p.Leu1663Ile)
c.4642T>A (p.Leu1548Ile)
c.988T>A (p.Leu330Ile)
c.4882T>A (p.Leu1628Ile)
Xg.32365035C>ACA295588DMDc.5010G>T (p.Trp1670Cys)
c.978G>T (p.Trp326Cys)
c.4998G>T (p.Trp1666Cys)
c.258G>T (p.Trp86Cys)
c.94-325G>T (n.94-325G>T)
n.336-147972G>T
c.4986G>T (p.Trp1662Cys)
c.4641G>T (p.Trp1547Cys)
c.987G>T (p.Trp329Cys)
c.4881G>T (p.Trp1627Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365035C=CA2422770096DMDc.5010G= (p.Trp1670=)
c.978G= (p.Trp326=)
c.4998G= (p.Trp1666=)
c.258G= (p.Trp86=)
c.94-325G= (n.94-325G=)
n.336-147972G=
c.4986G= (p.Trp1662=)
c.4641G= (p.Trp1547=)
c.987G= (p.Trp329=)
c.4881G= (p.Trp1627=)
Xg.32365035C>GCA412671780DMDc.5010G>C (p.Trp1670Cys)
c.978G>C (p.Trp326Cys)
c.4998G>C (p.Trp1666Cys)
c.258G>C (p.Trp86Cys)
c.94-325G>C (n.94-325G>C)
n.336-147972G>C
c.4986G>C (p.Trp1662Cys)
c.4641G>C (p.Trp1547Cys)
c.987G>C (p.Trp329Cys)
c.4881G>C (p.Trp1627Cys)
Xg.32365035C>TCA412671782DMDc.5010G>A (p.Trp1670Ter)
c.978G>A (p.Trp326Ter)
c.4998G>A (p.Trp1666Ter)
c.258G>A (p.Trp86Ter)
c.94-325G>A (n.94-325G>A)
n.336-147972G>A
c.4986G>A (p.Trp1662Ter)
c.4641G>A (p.Trp1547Ter)
c.987G>A (p.Trp329Ter)
c.4881G>A (p.Trp1627Ter)
Xg.32365036C>ACA412671786DMDc.5009G>T (p.Trp1670Leu)
c.977G>T (p.Trp326Leu)
c.4997G>T (p.Trp1666Leu)
c.257G>T (p.Trp86Leu)
c.94-326G>T (n.94-326G>T)
n.336-147973G>T
c.4985G>T (p.Trp1662Leu)
c.4640G>T (p.Trp1547Leu)
c.986G>T (p.Trp329Leu)
c.4880G>T (p.Trp1627Leu)
gnomAD v4
Xg.32365036C>GCA412671788DMDc.5009G>C (p.Trp1670Ser)
c.977G>C (p.Trp326Ser)
c.4997G>C (p.Trp1666Ser)
c.257G>C (p.Trp86Ser)
c.94-326G>C (n.94-326G>C)
n.336-147973G>C
c.4985G>C (p.Trp1662Ser)
c.4640G>C (p.Trp1547Ser)
c.986G>C (p.Trp329Ser)
c.4880G>C (p.Trp1627Ser)
ClinVar gnomAD v4
Xg.32365036C>TCA412671784DMDc.5009G>A (p.Trp1670Ter)
c.977G>A (p.Trp326Ter)
c.4997G>A (p.Trp1666Ter)
c.257G>A (p.Trp86Ter)
c.94-326G>A (n.94-326G>A)
n.336-147973G>A
c.4985G>A (p.Trp1662Ter)
c.4640G>A (p.Trp1547Ter)
c.986G>A (p.Trp329Ter)
c.4880G>A (p.Trp1627Ter)
ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
Xg.32365037A=CA2422770097DMDc.5008T= (p.Trp1670=)
c.976T= (p.Trp326=)
c.4996T= (p.Trp1666=)
c.256T= (p.Trp86=)
c.94-327T= (n.94-327T=)
n.336-147974T=
c.4984T= (p.Trp1662=)
c.4639T= (p.Trp1547=)
c.985T= (p.Trp329=)
c.4879T= (p.Trp1627=)
Xg.32365037A>CCA327995592DMDc.5008T>G (p.Trp1670Gly)
c.976T>G (p.Trp326Gly)
c.4996T>G (p.Trp1666Gly)
c.256T>G (p.Trp86Gly)
c.94-327T>G (n.94-327T>G)
n.336-147974T>G
c.4984T>G (p.Trp1662Gly)
c.4639T>G (p.Trp1547Gly)
c.985T>G (p.Trp329Gly)
c.4879T>G (p.Trp1627Gly)
ClinVar dbSNP
Xg.32365037A>GCA412671790DMDc.5008T>C (p.Trp1670Arg)
c.976T>C (p.Trp326Arg)
c.4996T>C (p.Trp1666Arg)
c.256T>C (p.Trp86Arg)
c.94-327T>C (n.94-327T>C)
n.336-147974T>C
c.4984T>C (p.Trp1662Arg)
c.4639T>C (p.Trp1547Arg)
c.985T>C (p.Trp329Arg)
c.4879T>C (p.Trp1627Arg)
Xg.32365037A>TCA412671792DMDc.5008T>A (p.Trp1670Arg)
c.976T>A (p.Trp326Arg)
c.4996T>A (p.Trp1666Arg)
c.256T>A (p.Trp86Arg)
c.94-327T>A (n.94-327T>A)
n.336-147974T>A
c.4984T>A (p.Trp1662Arg)
c.4639T>A (p.Trp1547Arg)
c.985T>A (p.Trp329Arg)
c.4879T>A (p.Trp1627Arg)
Xg.32365038C>ACA412671794DMDc.5007G>T (p.Glu1669Asp)
c.975G>T (p.Glu325Asp)
c.4995G>T (p.Glu1665Asp)
c.255G>T (p.Glu85Asp)
c.94-328G>T (n.94-328G>T)
n.336-147975G>T
c.4983G>T (p.Glu1661Asp)
c.4638G>T (p.Glu1546Asp)
c.984G>T (p.Glu328Asp)
c.4878G>T (p.Glu1626Asp)
Xg.32365038C=CA2422770098DMDc.5007G= (p.Glu1669=)
c.975G= (p.Glu325=)
c.4995G= (p.Glu1665=)
c.255G= (p.Glu85=)
c.94-328G= (n.94-328G=)
n.336-147975G=
c.4983G= (p.Glu1661=)
c.4638G= (p.Glu1546=)
c.984G= (p.Glu328=)
c.4878G= (p.Glu1626=)
Xg.32365038C>GCA10378809DMDc.5007G>C (p.Glu1669Asp)
c.975G>C (p.Glu325Asp)
c.4995G>C (p.Glu1665Asp)
c.255G>C (p.Glu85Asp)
c.94-328G>C (n.94-328G>C)
n.336-147975G>C
c.4983G>C (p.Glu1661Asp)
c.4638G>C (p.Glu1546Asp)
c.984G>C (p.Glu328Asp)
c.4878G>C (p.Glu1626Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365038C>TCA515714749DMDc.5007G>A (p.Glu1669=)
c.975G>A (p.Glu325=)
c.4995G>A (p.Glu1665=)
c.255G>A (p.Glu85=)
c.94-328G>A (n.94-328G>A)
n.336-147975G>A
c.4983G>A (p.Glu1661=)
c.4638G>A (p.Glu1546=)
c.984G>A (p.Glu328=)
c.4878G>A (p.Glu1626=)
Xg.32365039T>ACA412671797DMDc.5006A>T (p.Glu1669Val)
c.974A>T (p.Glu325Val)
c.4994A>T (p.Glu1665Val)
c.254A>T (p.Glu85Val)
c.94-329A>T (n.94-329A>T)
n.336-147976A>T
c.4982A>T (p.Glu1661Val)
c.4637A>T (p.Glu1546Val)
c.983A>T (p.Glu328Val)
c.4877A>T (p.Glu1626Val)
Xg.32365039T>CCA412671798DMDc.5006A>G (p.Glu1669Gly)
c.974A>G (p.Glu325Gly)
c.4994A>G (p.Glu1665Gly)
c.254A>G (p.Glu85Gly)
c.94-329A>G (n.94-329A>G)
n.336-147976A>G
c.4982A>G (p.Glu1661Gly)
c.4637A>G (p.Glu1546Gly)
c.983A>G (p.Glu328Gly)
c.4877A>G (p.Glu1626Gly)
Xg.32365039T>GCA412671800DMDc.5006A>C (p.Glu1669Ala)
c.974A>C (p.Glu325Ala)
c.4994A>C (p.Glu1665Ala)
c.254A>C (p.Glu85Ala)
c.94-329A>C (n.94-329A>C)
n.336-147976A>C
c.4982A>C (p.Glu1661Ala)
c.4637A>C (p.Glu1546Ala)
c.983A>C (p.Glu328Ala)
c.4877A>C (p.Glu1626Ala)
Xg.32365040C>ACA412671803DMDc.5005G>T (p.Glu1669Ter)
c.973G>T (p.Glu325Ter)
c.4993G>T (p.Glu1665Ter)
c.253G>T (p.Glu85Ter)
c.94-330G>T (n.94-330G>T)
n.336-147977G>T
c.4981G>T (p.Glu1661Ter)
c.4636G>T (p.Glu1546Ter)
c.982G>T (p.Glu328Ter)
c.4876G>T (p.Glu1626Ter)
Xg.32365040C>GCA412671804DMDc.5005G>C (p.Glu1669Gln)
c.973G>C (p.Glu325Gln)
c.4993G>C (p.Glu1665Gln)
c.253G>C (p.Glu85Gln)
c.94-330G>C (n.94-330G>C)
n.336-147977G>C
c.4981G>C (p.Glu1661Gln)
c.4636G>C (p.Glu1546Gln)
c.982G>C (p.Glu328Gln)
c.4876G>C (p.Glu1626Gln)
gnomAD v4
Xg.32365040C>TCA412671806DMDc.5005G>A (p.Glu1669Lys)
c.973G>A (p.Glu325Lys)
c.4993G>A (p.Glu1665Lys)
c.253G>A (p.Glu85Lys)
c.94-330G>A (n.94-330G>A)
n.336-147977G>A
c.4981G>A (p.Glu1661Lys)
c.4636G>A (p.Glu1546Lys)
c.982G>A (p.Glu328Lys)
c.4876G>A (p.Glu1626Lys)
Xg.32365040_32365049delinsCTTCTGCTCGCA2422770099DMDc.4996_5005delinsCGAGCAGAAG (p.Arg1666=)
c.964_973delinsCGAGCAGAAG (p.Arg322=)
c.4984_4993delinsCGAGCAGAAG (p.Arg1662=)
c.244_253delinsCGAGCAGAAG (p.Arg82=)
c.94-339_94-330delinsCGAGCAGAAG (n.94-339_94-330delinsCGAGCAGAAG)
n.336-147986_336-147977delinsCGAGCAGAAG
c.4972_4981delinsCGAGCAGAAG (p.Arg1658=)
c.4627_4636delinsCGAGCAGAAG (p.Arg1543=)
c.973_982delinsCGAGCAGAAG (p.Arg325=)
c.4867_4876delinsCGAGCAGAAG (p.Arg1623=)
Xg.32365041T>ACA412671808DMDc.5004A>T (p.Glu1668Asp)
c.972A>T (p.Glu324Asp)
c.4992A>T (p.Glu1664Asp)
c.252A>T (p.Glu84Asp)
c.94-331A>T (n.94-331A>T)
n.336-147978A>T
c.4980A>T (p.Glu1660Asp)
c.4635A>T (p.Glu1545Asp)
c.981A>T (p.Glu327Asp)
c.4875A>T (p.Glu1625Asp)
Xg.32365041T>CCA515714750DMDc.5004A>G (p.Glu1668=)
c.972A>G (p.Glu324=)
c.4992A>G (p.Glu1664=)
c.252A>G (p.Glu84=)
c.94-331A>G (n.94-331A>G)
n.336-147978A>G
c.4980A>G (p.Glu1660=)
c.4635A>G (p.Glu1545=)
c.981A>G (p.Glu327=)
c.4875A>G (p.Glu1625=)
Xg.32365041T>GCA412671809DMDc.5004A>C (p.Glu1668Asp)
c.972A>C (p.Glu324Asp)
c.4992A>C (p.Glu1664Asp)
c.252A>C (p.Glu84Asp)
c.94-331A>C (n.94-331A>C)
n.336-147978A>C
c.4980A>C (p.Glu1660Asp)
c.4635A>C (p.Glu1545Asp)
c.981A>C (p.Glu327Asp)
c.4875A>C (p.Glu1625Asp)
Xg.32365041_32365049delinsACA267049DMDc.4996_5004delinsT (p.Arg1666Ter)
c.964_972delinsT (p.Arg322Ter)
c.4984_4992delinsT (p.Arg1662Ter)
c.244_252delinsT (p.Arg82Ter)
c.94-339_94-331delinsT (n.94-339_94-331delinsT)
n.336-147986_336-147978delinsT
c.4972_4980delinsT (p.Arg1658Ter)
c.4627_4635delinsT (p.Arg1543Ter)
c.973_981delinsT (p.Arg325Ter)
c.4867_4875delinsT (p.Arg1623Ter)
dbSNP
Xg.32365042T>ACA412671815DMDc.5003A>T (p.Glu1668Val)
c.971A>T (p.Glu324Val)
c.4991A>T (p.Glu1664Val)
c.251A>T (p.Glu84Val)
c.94-332A>T (n.94-332A>T)
n.336-147979A>T
c.4979A>T (p.Glu1660Val)
c.4634A>T (p.Glu1545Val)
c.980A>T (p.Glu327Val)
c.4874A>T (p.Glu1625Val)
Xg.32365042T>CCA412671811DMDc.5003A>G (p.Glu1668Gly)
c.971A>G (p.Glu324Gly)
c.4991A>G (p.Glu1664Gly)
c.251A>G (p.Glu84Gly)
c.94-332A>G (n.94-332A>G)
n.336-147979A>G
c.4979A>G (p.Glu1660Gly)
c.4634A>G (p.Glu1545Gly)
c.980A>G (p.Glu327Gly)
c.4874A>G (p.Glu1625Gly)
Xg.32365042T>GCA412671813DMDc.5003A>C (p.Glu1668Ala)
c.971A>C (p.Glu324Ala)
c.4991A>C (p.Glu1664Ala)
c.251A>C (p.Glu84Ala)
c.94-332A>C (n.94-332A>C)
n.336-147979A>C
c.4979A>C (p.Glu1660Ala)
c.4634A>C (p.Glu1545Ala)
c.980A>C (p.Glu327Ala)
c.4874A>C (p.Glu1625Ala)
Xg.32365043C>ACA412671816DMDc.5002G>T (p.Glu1668Ter)
c.970G>T (p.Glu324Ter)
c.4990G>T (p.Glu1664Ter)
c.250G>T (p.Glu84Ter)
c.94-333G>T (n.94-333G>T)
n.336-147980G>T
c.4978G>T (p.Glu1660Ter)
c.4633G>T (p.Glu1545Ter)
c.979G>T (p.Glu327Ter)
c.4873G>T (p.Glu1625Ter)
ClinVar dbSNP
Xg.32365043C>GCA412671818DMDc.5002G>C (p.Glu1668Gln)
c.970G>C (p.Glu324Gln)
c.4990G>C (p.Glu1664Gln)
c.250G>C (p.Glu84Gln)
c.94-333G>C (n.94-333G>C)
n.336-147980G>C
c.4978G>C (p.Glu1660Gln)
c.4633G>C (p.Glu1545Gln)
c.979G>C (p.Glu327Gln)
c.4873G>C (p.Glu1625Gln)
Xg.32365043C>TCA412671819DMDc.5002G>A (p.Glu1668Lys)
c.970G>A (p.Glu324Lys)
c.4990G>A (p.Glu1664Lys)
c.250G>A (p.Glu84Lys)
c.94-333G>A (n.94-333G>A)
n.336-147980G>A
c.4978G>A (p.Glu1660Lys)
c.4633G>A (p.Glu1545Lys)
c.979G>A (p.Glu327Lys)
c.4873G>A (p.Glu1625Lys)
Xg.32365045_32365047delCA2695234104DMDc.5000_5002del (p.Ala1667del)
c.968_970del (p.Ala323del)
c.4988_4990del (p.Ala1663del)
c.248_250del (p.Ala83del)
c.94-335_94-333del (n.94-335_94-333del)
n.336-147982_336-147980del
c.4976_4978del (p.Ala1659del)
c.4631_4633del (p.Ala1544del)
c.977_979del (p.Ala326del)
c.4871_4873del (p.Ala1624del)
Xg.32365044T>ACA515714751DMDc.5001A>T (p.Ala1667=)
c.969A>T (p.Ala323=)
c.4989A>T (p.Ala1663=)
c.249A>T (p.Ala83=)
c.94-334A>T (n.94-334A>T)
n.336-147981A>T
c.4977A>T (p.Ala1659=)
c.4632A>T (p.Ala1544=)
c.978A>T (p.Ala326=)
c.4872A>T (p.Ala1624=)
Xg.32365044T>CCA515714752DMDc.5001A>G (p.Ala1667=)
c.969A>G (p.Ala323=)
c.4989A>G (p.Ala1663=)
c.249A>G (p.Ala83=)
c.94-334A>G (n.94-334A>G)
n.336-147981A>G
c.4977A>G (p.Ala1659=)
c.4632A>G (p.Ala1544=)
c.978A>G (p.Ala326=)
c.4872A>G (p.Ala1624=)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32365044T>GCA515714753DMDc.5001A>C (p.Ala1667=)
c.969A>C (p.Ala323=)
c.4989A>C (p.Ala1663=)
c.249A>C (p.Ala83=)
c.94-334A>C (n.94-334A>C)
n.336-147981A>C
c.4977A>C (p.Ala1659=)
c.4632A>C (p.Ala1544=)
c.978A>C (p.Ala326=)
c.4872A>C (p.Ala1624=)
Xg.32365044T=CA2422770100DMDc.5001A= (p.Ala1667=)
c.969A= (p.Ala323=)
c.4989A= (p.Ala1663=)
c.249A= (p.Ala83=)
c.94-334A= (n.94-334A=)
n.336-147981A=
c.4977A= (p.Ala1659=)
c.4632A= (p.Ala1544=)
c.978A= (p.Ala326=)
c.4872A= (p.Ala1624=)
Xg.32365044_32365045dupCA2695234105DMDc.5000_5001dup (p.Glu1668GlnfsTer5)
c.968_969dup (p.Glu324GlnfsTer5)
c.4988_4989dup (p.Glu1664GlnfsTer5)
c.248_249dup (p.Glu84GlnfsTer5)
c.94-335_94-334dup (n.94-335_94-334dup)
n.336-147982_336-147981dup
c.4976_4977dup (p.Glu1660GlnfsTer5)
c.4631_4632dup (p.Glu1545GlnfsTer5)
c.977_978dup (p.Glu327GlnfsTer5)
c.4871_4872dup (p.Glu1625GlnfsTer5)
Xg.32365045G>ACA10378810DMDc.5000C>T (p.Ala1667Val)
c.968C>T (p.Ala323Val)
c.4988C>T (p.Ala1663Val)
c.248C>T (p.Ala83Val)
c.94-335C>T (n.94-335C>T)
n.336-147982C>T
c.4976C>T (p.Ala1659Val)
c.4631C>T (p.Ala1544Val)
c.977C>T (p.Ala326Val)
c.4871C>T (p.Ala1624Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32365045G>CCA412671821DMDc.5000C>G (p.Ala1667Gly)
c.968C>G (p.Ala323Gly)
c.4988C>G (p.Ala1663Gly)
c.248C>G (p.Ala83Gly)
c.94-335C>G (n.94-335C>G)
n.336-147982C>G
c.4976C>G (p.Ala1659Gly)
c.4631C>G (p.Ala1544Gly)
c.977C>G (p.Ala326Gly)
c.4871C>G (p.Ala1624Gly)
Xg.32365045G=CA2422770101DMDc.5000C= (p.Ala1667=)
c.968C= (p.Ala323=)
c.4988C= (p.Ala1663=)
c.248C= (p.Ala83=)
c.94-335C= (n.94-335C=)
n.336-147982C=
c.4976C= (p.Ala1659=)
c.4631C= (p.Ala1544=)
c.977C= (p.Ala326=)
c.4871C= (p.Ala1624=)
Xg.32365045G>TCA412671823DMDc.5000C>A (p.Ala1667Glu)
c.968C>A (p.Ala323Glu)
c.4988C>A (p.Ala1663Glu)
c.248C>A (p.Ala83Glu)
c.94-335C>A (n.94-335C>A)
n.336-147982C>A
c.4976C>A (p.Ala1659Glu)
c.4631C>A (p.Ala1544Glu)
c.977C>A (p.Ala326Glu)
c.4871C>A (p.Ala1624Glu)
gnomAD v4
Xg.32365046C>ACA412671825DMDc.4999G>T (p.Ala1667Ser)
c.967G>T (p.Ala323Ser)
c.4987G>T (p.Ala1663Ser)
c.247G>T (p.Ala83Ser)
c.94-336G>T (n.94-336G>T)
n.336-147983G>T
c.4975G>T (p.Ala1659Ser)
c.4630G>T (p.Ala1544Ser)
c.976G>T (p.Ala326Ser)
c.4870G>T (p.Ala1624Ser)
Xg.32365046C=CA2422770102DMDc.4999G= (p.Ala1667=)
c.967G= (p.Ala323=)
c.4987G= (p.Ala1663=)
c.247G= (p.Ala83=)
c.94-336G= (n.94-336G=)
n.336-147983G=
c.4975G= (p.Ala1659=)
c.4630G= (p.Ala1544=)
c.976G= (p.Ala326=)
c.4870G= (p.Ala1624=)
Xg.32365046C>GCA412671826DMDc.4999G>C (p.Ala1667Pro)
c.967G>C (p.Ala323Pro)
c.4987G>C (p.Ala1663Pro)
c.247G>C (p.Ala83Pro)
c.94-336G>C (n.94-336G>C)
n.336-147983G>C
c.4975G>C (p.Ala1659Pro)
c.4630G>C (p.Ala1544Pro)
c.976G>C (p.Ala326Pro)
c.4870G>C (p.Ala1624Pro)
Xg.32365046C>TCA10378811DMDc.4999G>A (p.Ala1667Thr)
c.967G>A (p.Ala323Thr)
c.4987G>A (p.Ala1663Thr)
c.247G>A (p.Ala83Thr)
c.94-336G>A (n.94-336G>A)
n.336-147983G>A
c.4975G>A (p.Ala1659Thr)
c.4630G>A (p.Ala1544Thr)
c.976G>A (p.Ala326Thr)
c.4870G>A (p.Ala1624Thr)
dbSNP ExAC
Xg.32365047T>ACA515714754DMDc.4998A>T (p.Arg1666=)
c.966A>T (p.Arg322=)
c.4986A>T (p.Arg1662=)
c.246A>T (p.Arg82=)
c.94-337A>T (n.94-337A>T)
n.336-147984A>T
c.4974A>T (p.Arg1658=)
c.4629A>T (p.Arg1543=)
c.975A>T (p.Arg325=)
c.4869A>T (p.Arg1623=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365047T>CCA515714755DMDc.4998A>G (p.Arg1666=)
c.966A>G (p.Arg322=)
c.4986A>G (p.Arg1662=)
c.246A>G (p.Arg82=)
c.94-337A>G (n.94-337A>G)
n.336-147984A>G
c.4974A>G (p.Arg1658=)
c.4629A>G (p.Arg1543=)
c.975A>G (p.Arg325=)
c.4869A>G (p.Arg1623=)
Xg.32365047T>GCA515714756DMDc.4998A>C (p.Arg1666=)
c.966A>C (p.Arg322=)
c.4986A>C (p.Arg1662=)
c.246A>C (p.Arg82=)
c.94-337A>C (n.94-337A>C)
n.336-147984A>C
c.4974A>C (p.Arg1658=)
c.4629A>C (p.Arg1543=)
c.975A>C (p.Arg325=)
c.4869A>C (p.Arg1623=)
Xg.32365047T=CA2422770103DMDc.4998A= (p.Arg1666=)
c.966A= (p.Arg322=)
c.4986A= (p.Arg1662=)
c.246A= (p.Arg82=)
c.94-337A= (n.94-337A=)
n.336-147984A=
c.4974A= (p.Arg1658=)
c.4629A= (p.Arg1543=)
c.975A= (p.Arg325=)
c.4869A= (p.Arg1623=)
Xg.32365048C>ACA327995608DMDc.4997G>T (p.Arg1666Leu)
c.965G>T (p.Arg322Leu)
c.4985G>T (p.Arg1662Leu)
c.245G>T (p.Arg82Leu)
c.94-338G>T (n.94-338G>T)
n.336-147985G>T
c.4973G>T (p.Arg1658Leu)
c.4628G>T (p.Arg1543Leu)
c.974G>T (p.Arg325Leu)
c.4868G>T (p.Arg1623Leu)
ClinVar dbSNP
Xg.32365048C=CA2422770104DMDc.4997G= (p.Arg1666=)
c.965G= (p.Arg322=)
c.4985G= (p.Arg1662=)
c.245G= (p.Arg82=)
c.94-338G= (n.94-338G=)
n.336-147985G=
c.4973G= (p.Arg1658=)
c.4628G= (p.Arg1543=)
c.974G= (p.Arg325=)
c.4868G= (p.Arg1623=)
Xg.32365048C>GCA412671830DMDc.4997G>C (p.Arg1666Pro)
c.965G>C (p.Arg322Pro)
c.4985G>C (p.Arg1662Pro)
c.245G>C (p.Arg82Pro)
c.94-338G>C (n.94-338G>C)
n.336-147985G>C
c.4973G>C (p.Arg1658Pro)
c.4628G>C (p.Arg1543Pro)
c.974G>C (p.Arg325Pro)
c.4868G>C (p.Arg1623Pro)
Xg.32365048C>TCA412671832DMDc.4997G>A (p.Arg1666Gln)
c.965G>A (p.Arg322Gln)
c.4985G>A (p.Arg1662Gln)
c.245G>A (p.Arg82Gln)
c.94-338G>A (n.94-338G>A)
n.336-147985G>A
c.4973G>A (p.Arg1658Gln)
c.4628G>A (p.Arg1543Gln)
c.974G>A (p.Arg325Gln)
c.4868G>A (p.Arg1623Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365049G>ACA267046DMDc.4996C>T (p.Arg1666Ter)
c.964C>T (p.Arg322Ter)
c.4984C>T (p.Arg1662Ter)
c.244C>T (p.Arg82Ter)
c.94-339C>T (n.94-339C>T)
n.336-147986C>T
c.4972C>T (p.Arg1658Ter)
c.4627C>T (p.Arg1543Ter)
c.973C>T (p.Arg325Ter)
c.4867C>T (p.Arg1623Ter)
ClinVar dbSNP gnomAD v4
Xg.32365049G>CCA412671833DMDc.4996C>G (p.Arg1666Gly)
c.964C>G (p.Arg322Gly)
c.4984C>G (p.Arg1662Gly)
c.244C>G (p.Arg82Gly)
c.94-339C>G (n.94-339C>G)
n.336-147986C>G
c.4972C>G (p.Arg1658Gly)
c.4627C>G (p.Arg1543Gly)
c.973C>G (p.Arg325Gly)
c.4867C>G (p.Arg1623Gly)
Xg.32365049G=CA2422770105DMDc.4996C= (p.Arg1666=)
c.964C= (p.Arg322=)
c.4984C= (p.Arg1662=)
c.244C= (p.Arg82=)
c.94-339C= (n.94-339C=)
n.336-147986C=
c.4972C= (p.Arg1658=)
c.4627C= (p.Arg1543=)
c.973C= (p.Arg325=)
c.4867C= (p.Arg1623=)
Xg.32365049G>TCA515714757DMDc.4996C>A (p.Arg1666=)
c.964C>A (p.Arg322=)
c.4984C>A (p.Arg1662=)
c.244C>A (p.Arg82=)
c.94-339C>A (n.94-339C>A)
n.336-147986C>A
c.4972C>A (p.Arg1658=)
c.4627C>A (p.Arg1543=)
c.973C>A (p.Arg325=)
c.4867C>A (p.Arg1623=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32365050G>ACA10378812DMDc.4995C>T (p.Ser1665=)
c.963C>T (p.Ser321=)
c.4983C>T (p.Ser1661=)
c.243C>T (p.Ser81=)
c.94-340C>T (n.94-340C>T)
n.336-147987C>T
c.4971C>T (p.Ser1657=)
c.4626C>T (p.Ser1542=)
c.972C>T (p.Ser324=)
c.4866C>T (p.Ser1622=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365050G>CCA515714758DMDc.4995C>G (p.Ser1665=)
c.963C>G (p.Ser321=)
c.4983C>G (p.Ser1661=)
c.243C>G (p.Ser81=)
c.94-340C>G (n.94-340C>G)
n.336-147987C>G
c.4971C>G (p.Ser1657=)
c.4626C>G (p.Ser1542=)
c.972C>G (p.Ser324=)
c.4866C>G (p.Ser1622=)
ClinVar
Xg.32365050G=CA2422770106DMDc.4995C= (p.Ser1665=)
c.963C= (p.Ser321=)
c.4983C= (p.Ser1661=)
c.243C= (p.Ser81=)
c.94-340C= (n.94-340C=)
n.336-147987C=
c.4971C= (p.Ser1657=)
c.4626C= (p.Ser1542=)
c.972C= (p.Ser324=)
c.4866C= (p.Ser1622=)
Xg.32365050G>TCA515714759DMDc.4995C>A (p.Ser1665=)
c.963C>A (p.Ser321=)
c.4983C>A (p.Ser1661=)
c.243C>A (p.Ser81=)
c.94-340C>A (n.94-340C>A)
n.336-147987C>A
c.4971C>A (p.Ser1657=)
c.4626C>A (p.Ser1542=)
c.972C>A (p.Ser324=)
c.4866C>A (p.Ser1622=)
Xg.32365051G>ACA412671836DMDc.4994C>T (p.Ser1665Phe)
c.962C>T (p.Ser321Phe)
c.4982C>T (p.Ser1661Phe)
c.242C>T (p.Ser81Phe)
c.94-341C>T (n.94-341C>T)
n.336-147988C>T
c.4970C>T (p.Ser1657Phe)
c.4625C>T (p.Ser1542Phe)
c.971C>T (p.Ser324Phe)
c.4865C>T (p.Ser1622Phe)
gnomAD v4
Xg.32365051G>CCA412671839DMDc.4994C>G (p.Ser1665Cys)
c.962C>G (p.Ser321Cys)
c.4982C>G (p.Ser1661Cys)
c.242C>G (p.Ser81Cys)
c.94-341C>G (n.94-341C>G)
n.336-147988C>G
c.4970C>G (p.Ser1657Cys)
c.4625C>G (p.Ser1542Cys)
c.971C>G (p.Ser324Cys)
c.4865C>G (p.Ser1622Cys)
ClinVar
Xg.32365051G>TCA412671841DMDc.4994C>A (p.Ser1665Tyr)
c.962C>A (p.Ser321Tyr)
c.4982C>A (p.Ser1661Tyr)
c.242C>A (p.Ser81Tyr)
c.94-341C>A (n.94-341C>A)
n.336-147988C>A
c.4970C>A (p.Ser1657Tyr)
c.4625C>A (p.Ser1542Tyr)
c.971C>A (p.Ser324Tyr)
c.4865C>A (p.Ser1622Tyr)
Xg.32365052A>CCA412671844DMDc.4993T>G (p.Ser1665Ala)
c.961T>G (p.Ser321Ala)
c.4981T>G (p.Ser1661Ala)
c.241T>G (p.Ser81Ala)
c.94-342T>G (n.94-342T>G)
n.336-147989T>G
c.4969T>G (p.Ser1657Ala)
c.4624T>G (p.Ser1542Ala)
c.970T>G (p.Ser324Ala)
c.4864T>G (p.Ser1622Ala)
Xg.32365052A>GCA412671846DMDc.4993T>C (p.Ser1665Pro)
c.961T>C (p.Ser321Pro)
c.4981T>C (p.Ser1661Pro)
c.241T>C (p.Ser81Pro)
c.94-342T>C (n.94-342T>C)
n.336-147989T>C
c.4969T>C (p.Ser1657Pro)
c.4624T>C (p.Ser1542Pro)
c.970T>C (p.Ser324Pro)
c.4864T>C (p.Ser1622Pro)
Xg.32365052A>TCA412671848DMDc.4993T>A (p.Ser1665Thr)
c.961T>A (p.Ser321Thr)
c.4981T>A (p.Ser1661Thr)
c.241T>A (p.Ser81Thr)
c.94-342T>A (n.94-342T>A)
n.336-147989T>A
c.4969T>A (p.Ser1657Thr)
c.4624T>A (p.Ser1542Thr)
c.970T>A (p.Ser324Thr)
c.4864T>A (p.Ser1622Thr)
Xg.32365053G>ACA515714760DMDc.4992C>T (p.Thr1664=)
c.960C>T (p.Thr320=)
c.4980C>T (p.Thr1660=)
c.240C>T (p.Thr80=)
c.94-343C>T (n.94-343C>T)
n.336-147990C>T
c.4968C>T (p.Thr1656=)
c.4623C>T (p.Thr1541=)
c.969C>T (p.Thr323=)
c.4863C>T (p.Thr1621=)
dbSNP gnomAD v2 gnomAD v4
Xg.32365053G>CCA515714761DMDc.4992C>G (p.Thr1664=)
c.960C>G (p.Thr320=)
c.4980C>G (p.Thr1660=)
c.240C>G (p.Thr80=)
c.94-343C>G (n.94-343C>G)
n.336-147990C>G
c.4968C>G (p.Thr1656=)
c.4623C>G (p.Thr1541=)
c.969C>G (p.Thr323=)
c.4863C>G (p.Thr1621=)
Xg.32365053G=CA2422770107DMDc.4992C= (p.Thr1664=)
c.960C= (p.Thr320=)
c.4980C= (p.Thr1660=)
c.240C= (p.Thr80=)
c.94-343C= (n.94-343C=)
n.336-147990C=
c.4968C= (p.Thr1656=)
c.4623C= (p.Thr1541=)
c.969C= (p.Thr323=)
c.4863C= (p.Thr1621=)
Xg.32365053G>TCA515714762DMDc.4992C>A (p.Thr1664=)
c.960C>A (p.Thr320=)
c.4980C>A (p.Thr1660=)
c.240C>A (p.Thr80=)
c.94-343C>A (n.94-343C>A)
n.336-147990C>A
c.4968C>A (p.Thr1656=)
c.4623C>A (p.Thr1541=)
c.969C>A (p.Thr323=)
c.4863C>A (p.Thr1621=)
Xg.32365054G>ACA412671850DMDc.4991C>T (p.Thr1664Ile)
c.959C>T (p.Thr320Ile)
c.4979C>T (p.Thr1660Ile)
c.239C>T (p.Thr80Ile)
c.94-344C>T (n.94-344C>T)
n.336-147991C>T
c.4967C>T (p.Thr1656Ile)
c.4622C>T (p.Thr1541Ile)
c.968C>T (p.Thr323Ile)
c.4862C>T (p.Thr1621Ile)
Xg.32365054G>CCA412671851DMDc.4991C>G (p.Thr1664Ser)
c.959C>G (p.Thr320Ser)
c.4979C>G (p.Thr1660Ser)
c.239C>G (p.Thr80Ser)
c.94-344C>G (n.94-344C>G)
n.336-147991C>G
c.4967C>G (p.Thr1656Ser)
c.4622C>G (p.Thr1541Ser)
c.968C>G (p.Thr323Ser)
c.4862C>G (p.Thr1621Ser)
Xg.32365054G>TCA412671853DMDc.4991C>A (p.Thr1664Asn)
c.959C>A (p.Thr320Asn)
c.4979C>A (p.Thr1660Asn)
c.239C>A (p.Thr80Asn)
c.94-344C>A (n.94-344C>A)
n.336-147991C>A
c.4967C>A (p.Thr1656Asn)
c.4622C>A (p.Thr1541Asn)
c.968C>A (p.Thr323Asn)
c.4862C>A (p.Thr1621Asn)
Xg.32365055T>ACA412671856DMDc.4990A>T (p.Thr1664Ser)
c.958A>T (p.Thr320Ser)
c.4978A>T (p.Thr1660Ser)
c.238A>T (p.Thr80Ser)
c.94-345A>T (n.94-345A>T)
n.336-147992A>T
c.4966A>T (p.Thr1656Ser)
c.4621A>T (p.Thr1541Ser)
c.967A>T (p.Thr323Ser)
c.4861A>T (p.Thr1621Ser)
Xg.32365055T>CCA327995616DMDc.4990A>G (p.Thr1664Ala)
c.958A>G (p.Thr320Ala)
c.4978A>G (p.Thr1660Ala)
c.238A>G (p.Thr80Ala)
c.94-345A>G (n.94-345A>G)
n.336-147992A>G
c.4966A>G (p.Thr1656Ala)
c.4621A>G (p.Thr1541Ala)
c.967A>G (p.Thr323Ala)
c.4861A>G (p.Thr1621Ala)
dbSNP gnomAD v4
Xg.32365055T>GCA412671858DMDc.4990A>C (p.Thr1664Pro)
c.958A>C (p.Thr320Pro)
c.4978A>C (p.Thr1660Pro)
c.238A>C (p.Thr80Pro)
c.94-345A>C (n.94-345A>C)
n.336-147992A>C
c.4966A>C (p.Thr1656Pro)
c.4621A>C (p.Thr1541Pro)
c.967A>C (p.Thr323Pro)
c.4861A>C (p.Thr1621Pro)
ClinVar
Xg.32365055T=CA2422770108DMDc.4990A= (p.Thr1664=)
c.958A= (p.Thr320=)
c.4978A= (p.Thr1660=)
c.238A= (p.Thr80=)
c.94-345A= (n.94-345A=)
n.336-147992A=
c.4966A= (p.Thr1656=)
c.4621A= (p.Thr1541=)
c.967A= (p.Thr323=)
c.4861A= (p.Thr1621=)
Xg.32365056G>ACA515714765DMDc.4989C>T (p.Val1663=)
c.957C>T (p.Val319=)
c.4977C>T (p.Val1659=)
c.237C>T (p.Val79=)
c.94-346C>T (n.94-346C>T)
n.336-147993C>T
c.4965C>T (p.Val1655=)
c.4620C>T (p.Val1540=)
c.966C>T (p.Val322=)
c.4860C>T (p.Val1620=)
dbSNP gnomAD v3 gnomAD v4
Xg.32365056G>CCA515714764DMDc.4989C>G (p.Val1663=)
c.957C>G (p.Val319=)
c.4977C>G (p.Val1659=)
c.237C>G (p.Val79=)
c.94-346C>G (n.94-346C>G)
n.336-147993C>G
c.4965C>G (p.Val1655=)
c.4620C>G (p.Val1540=)
c.966C>G (p.Val322=)
c.4860C>G (p.Val1620=)
Xg.32365056G=CA2422770109DMDc.4989C= (p.Val1663=)
c.957C= (p.Val319=)
c.4977C= (p.Val1659=)
c.237C= (p.Val79=)
c.94-346C= (n.94-346C=)
n.336-147993C=
c.4965C= (p.Val1655=)
c.4620C= (p.Val1540=)
c.966C= (p.Val322=)
c.4860C= (p.Val1620=)
Xg.32365056G>TCA515714763DMDc.4989C>A (p.Val1663=)
c.957C>A (p.Val319=)
c.4977C>A (p.Val1659=)
c.237C>A (p.Val79=)
c.94-346C>A (n.94-346C>A)
n.336-147993C>A
c.4965C>A (p.Val1655=)
c.4620C>A (p.Val1540=)
c.966C>A (p.Val322=)
c.4860C>A (p.Val1620=)
Xg.32365057A>CCA412671864DMDc.4988T>G (p.Val1663Gly)
c.956T>G (p.Val319Gly)
c.4976T>G (p.Val1659Gly)
c.236T>G (p.Val79Gly)
c.94-347T>G (n.94-347T>G)
n.336-147994T>G
c.4964T>G (p.Val1655Gly)
c.4619T>G (p.Val1540Gly)
c.965T>G (p.Val322Gly)
c.4859T>G (p.Val1620Gly)
Xg.32365057A>GCA412671866DMDc.4988T>C (p.Val1663Ala)
c.956T>C (p.Val319Ala)
c.4976T>C (p.Val1659Ala)
c.236T>C (p.Val79Ala)
c.94-347T>C (n.94-347T>C)
n.336-147994T>C
c.4964T>C (p.Val1655Ala)
c.4619T>C (p.Val1540Ala)
c.965T>C (p.Val322Ala)
c.4859T>C (p.Val1620Ala)
Xg.32365057A>TCA412671861DMDc.4988T>A (p.Val1663Asp)
c.956T>A (p.Val319Asp)
c.4976T>A (p.Val1659Asp)
c.236T>A (p.Val79Asp)
c.94-347T>A (n.94-347T>A)
n.336-147994T>A
c.4964T>A (p.Val1655Asp)
c.4619T>A (p.Val1540Asp)
c.965T>A (p.Val322Asp)
c.4859T>A (p.Val1620Asp)
Xg.32365058C>ACA412671868DMDc.4987G>T (p.Val1663Phe)
c.955G>T (p.Val319Phe)
c.4975G>T (p.Val1659Phe)
c.235G>T (p.Val79Phe)
c.94-348G>T (n.94-348G>T)
n.336-147995G>T
c.4963G>T (p.Val1655Phe)
c.4618G>T (p.Val1540Phe)
c.964G>T (p.Val322Phe)
c.4858G>T (p.Val1620Phe)
Xg.32365058C>GCA412671870DMDc.4987G>C (p.Val1663Leu)
c.955G>C (p.Val319Leu)
c.4975G>C (p.Val1659Leu)
c.235G>C (p.Val79Leu)
c.94-348G>C (n.94-348G>C)
n.336-147995G>C
c.4963G>C (p.Val1655Leu)
c.4618G>C (p.Val1540Leu)
c.964G>C (p.Val322Leu)
c.4858G>C (p.Val1620Leu)
Xg.32365058C>TCA412671872DMDc.4987G>A (p.Val1663Ile)
c.955G>A (p.Val319Ile)
c.4975G>A (p.Val1659Ile)
c.235G>A (p.Val79Ile)
c.94-348G>A (n.94-348G>A)
n.336-147995G>A
c.4963G>A (p.Val1655Ile)
c.4618G>A (p.Val1540Ile)
c.964G>A (p.Val322Ile)
c.4858G>A (p.Val1620Ile)
ClinVar dbSNP gnomAD v4
Xg.32365059A>CCA515714766DMDc.4986T>G (p.Ala1662=)
c.954T>G (p.Ala318=)
c.4974T>G (p.Ala1658=)
c.234T>G (p.Ala78=)
c.94-349T>G (n.94-349T>G)
n.336-147996T>G
c.4962T>G (p.Ala1654=)
c.4617T>G (p.Ala1539=)
c.963T>G (p.Ala321=)
c.4857T>G (p.Ala1619=)
Xg.32365059A>GCA515714767DMDc.4986T>C (p.Ala1662=)
c.954T>C (p.Ala318=)
c.4974T>C (p.Ala1658=)
c.234T>C (p.Ala78=)
c.94-349T>C (n.94-349T>C)
n.336-147996T>C
c.4962T>C (p.Ala1654=)
c.4617T>C (p.Ala1539=)
c.963T>C (p.Ala321=)
c.4857T>C (p.Ala1619=)
ClinVar dbSNP gnomAD v4
Xg.32365059A>TCA515714768DMDc.4986T>A (p.Ala1662=)
c.954T>A (p.Ala318=)
c.4974T>A (p.Ala1658=)
c.234T>A (p.Ala78=)
c.94-349T>A (n.94-349T>A)
n.336-147996T>A
c.4962T>A (p.Ala1654=)
c.4617T>A (p.Ala1539=)
c.963T>A (p.Ala321=)
c.4857T>A (p.Ala1619=)
Xg.32365060G>ACA412671873DMDc.4985C>T (p.Ala1662Val)
c.953C>T (p.Ala318Val)
c.4973C>T (p.Ala1658Val)
c.233C>T (p.Ala78Val)
c.94-350C>T (n.94-350C>T)
n.336-147997C>T
c.4961C>T (p.Ala1654Val)
c.4616C>T (p.Ala1539Val)
c.962C>T (p.Ala321Val)
c.4856C>T (p.Ala1619Val)
Xg.32365060G>CCA412671875DMDc.4985C>G (p.Ala1662Gly)
c.953C>G (p.Ala318Gly)
c.4973C>G (p.Ala1658Gly)
c.233C>G (p.Ala78Gly)
c.94-350C>G (n.94-350C>G)
n.336-147997C>G
c.4961C>G (p.Ala1654Gly)
c.4616C>G (p.Ala1539Gly)
c.962C>G (p.Ala321Gly)
c.4856C>G (p.Ala1619Gly)
Xg.32365060G>TCA412671876DMDc.4985C>A (p.Ala1662Asp)
c.953C>A (p.Ala318Asp)
c.4973C>A (p.Ala1658Asp)
c.233C>A (p.Ala78Asp)
c.94-350C>A (n.94-350C>A)
n.336-147997C>A
c.4961C>A (p.Ala1654Asp)
c.4616C>A (p.Ala1539Asp)
c.962C>A (p.Ala321Asp)
c.4856C>A (p.Ala1619Asp)
dbSNP
Xg.32365061C>ACA412671879DMDc.4984G>T (p.Ala1662Ser)
c.952G>T (p.Ala318Ser)
c.4972G>T (p.Ala1658Ser)
c.232G>T (p.Ala78Ser)
c.94-351G>T (n.94-351G>T)
n.336-147998G>T
c.4960G>T (p.Ala1654Ser)
c.4615G>T (p.Ala1539Ser)
c.961G>T (p.Ala321Ser)
c.4855G>T (p.Ala1619Ser)
Xg.32365061C>GCA412671882DMDc.4984G>C (p.Ala1662Pro)
c.952G>C (p.Ala318Pro)
c.4972G>C (p.Ala1658Pro)
c.232G>C (p.Ala78Pro)
c.94-351G>C (n.94-351G>C)
n.336-147998G>C
c.4960G>C (p.Ala1654Pro)
c.4615G>C (p.Ala1539Pro)
c.961G>C (p.Ala321Pro)
c.4855G>C (p.Ala1619Pro)
Xg.32365061C>TCA412671880DMDc.4984G>A (p.Ala1662Thr)
c.952G>A (p.Ala318Thr)
c.4972G>A (p.Ala1658Thr)
c.232G>A (p.Ala78Thr)
c.94-351G>A (n.94-351G>A)
n.336-147998G>A
c.4960G>A (p.Ala1654Thr)
c.4615G>A (p.Ala1539Thr)
c.961G>A (p.Ala321Thr)
c.4855G>A (p.Ala1619Thr)
Xg.32365062delCA2697552973DMDc.4983del (p.Ile1661MetfsTer11)
c.951del (p.Ile317MetfsTer11)
c.4971del (p.Ile1657MetfsTer11)
c.231del (p.Ile77MetfsTer11)
c.94-352del (n.94-352del)
n.336-147999del
c.4959del (p.Ile1653MetfsTer11)
c.4614del (p.Ile1538MetfsTer11)
c.960del (p.Ile320MetfsTer11)
c.4854del (p.Ile1618MetfsTer11)
ClinVar
Xg.32365062T>ACA515714769DMDc.4983A>T (p.Ile1661=)
c.951A>T (p.Ile317=)
c.4971A>T (p.Ile1657=)
c.231A>T (p.Ile77=)
c.94-352A>T (n.94-352A>T)
n.336-147999A>T
c.4959A>T (p.Ile1653=)
c.4614A>T (p.Ile1538=)
c.960A>T (p.Ile320=)
c.4854A>T (p.Ile1618=)
dbSNP gnomAD v2 gnomAD v4
Xg.32365062T>CCA412671884DMDc.4983A>G (p.Ile1661Met)
c.951A>G (p.Ile317Met)
c.4971A>G (p.Ile1657Met)
c.231A>G (p.Ile77Met)
c.94-352A>G (n.94-352A>G)
n.336-147999A>G
c.4959A>G (p.Ile1653Met)
c.4614A>G (p.Ile1538Met)
c.960A>G (p.Ile320Met)
c.4854A>G (p.Ile1618Met)
Xg.32365062T>GCA515714770DMDc.4983A>C (p.Ile1661=)
c.951A>C (p.Ile317=)
c.4971A>C (p.Ile1657=)
c.231A>C (p.Ile77=)
c.94-352A>C (n.94-352A>C)
n.336-147999A>C
c.4959A>C (p.Ile1653=)
c.4614A>C (p.Ile1538=)
c.960A>C (p.Ile320=)
c.4854A>C (p.Ile1618=)
Xg.32365062T=CA2422770110DMDc.4983A= (p.Ile1661=)
c.951A= (p.Ile317=)
c.4971A= (p.Ile1657=)
c.231A= (p.Ile77=)
c.94-352A= (n.94-352A=)
n.336-147999A=
c.4959A= (p.Ile1653=)
c.4614A= (p.Ile1538=)
c.960A= (p.Ile320=)
c.4854A= (p.Ile1618=)
Xg.32365062dupCA2695234106DMDc.4983dup (p.Ala1662SerfsTer24)
c.951dup (p.Ala318SerfsTer24)
c.4971dup (p.Ala1658SerfsTer24)
c.231dup (p.Ala78SerfsTer24)
c.94-352dup (n.94-352dup)
n.336-147999dup
c.4959dup (p.Ala1654SerfsTer24)
c.4614dup (p.Ala1539SerfsTer24)
c.960dup (p.Ala321SerfsTer24)
c.4854dup (p.Ala1619SerfsTer24)
Xg.32365063A>CCA412671886DMDc.4982T>G (p.Ile1661Arg)
c.950T>G (p.Ile317Arg)
c.4970T>G (p.Ile1657Arg)
c.230T>G (p.Ile77Arg)
c.94-353T>G (n.94-353T>G)
n.336-148000T>G
c.4958T>G (p.Ile1653Arg)
c.4613T>G (p.Ile1538Arg)
c.959T>G (p.Ile320Arg)
c.4853T>G (p.Ile1618Arg)
Xg.32365063A>GCA412671888DMDc.4982T>C (p.Ile1661Thr)
c.950T>C (p.Ile317Thr)
c.4970T>C (p.Ile1657Thr)
c.230T>C (p.Ile77Thr)
c.94-353T>C (n.94-353T>C)
n.336-148000T>C
c.4958T>C (p.Ile1653Thr)
c.4613T>C (p.Ile1538Thr)
c.959T>C (p.Ile320Thr)
c.4853T>C (p.Ile1618Thr)
Xg.32365063A>TCA412671890DMDc.4982T>A (p.Ile1661Lys)
c.950T>A (p.Ile317Lys)
c.4970T>A (p.Ile1657Lys)
c.230T>A (p.Ile77Lys)
c.94-353T>A (n.94-353T>A)
n.336-148000T>A
c.4958T>A (p.Ile1653Lys)
c.4613T>A (p.Ile1538Lys)
c.959T>A (p.Ile320Lys)
c.4853T>A (p.Ile1618Lys)
Xg.32365064T>ACA412671895DMDc.4981A>T (p.Ile1661Leu)
c.949A>T (p.Ile317Leu)
c.4969A>T (p.Ile1657Leu)
c.229A>T (p.Ile77Leu)
c.94-354A>T (n.94-354A>T)
n.336-148001A>T
c.4957A>T (p.Ile1653Leu)
c.4612A>T (p.Ile1538Leu)
c.958A>T (p.Ile320Leu)
c.4852A>T (p.Ile1618Leu)
Xg.32365064T>CCA10378813DMDc.4981A>G (p.Ile1661Val)
c.949A>G (p.Ile317Val)
c.4969A>G (p.Ile1657Val)
c.229A>G (p.Ile77Val)
c.94-354A>G (n.94-354A>G)
n.336-148001A>G
c.4957A>G (p.Ile1653Val)
c.4612A>G (p.Ile1538Val)
c.958A>G (p.Ile320Val)
c.4852A>G (p.Ile1618Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365064T>GCA412671892DMDc.4981A>C (p.Ile1661Leu)
c.949A>C (p.Ile317Leu)
c.4969A>C (p.Ile1657Leu)
c.229A>C (p.Ile77Leu)
c.94-354A>C (n.94-354A>C)
n.336-148001A>C
c.4957A>C (p.Ile1653Leu)
c.4612A>C (p.Ile1538Leu)
c.958A>C (p.Ile320Leu)
c.4852A>C (p.Ile1618Leu)
Xg.32365064T=CA2422770111DMDc.4981A= (p.Ile1661=)
c.949A= (p.Ile317=)
c.4969A= (p.Ile1657=)
c.229A= (p.Ile77=)
c.94-354A= (n.94-354A=)
n.336-148001A=
c.4957A= (p.Ile1653=)
c.4612A= (p.Ile1538=)
c.958A= (p.Ile320=)
c.4852A= (p.Ile1618=)
Xg.32365065C>ACA412671898DMDc.4980G>T (p.Trp1660Cys)
c.948G>T (p.Trp316Cys)
c.4968G>T (p.Trp1656Cys)
c.228G>T (p.Trp76Cys)
c.94-355G>T (n.94-355G>T)
n.336-148002G>T
c.4956G>T (p.Trp1652Cys)
c.4611G>T (p.Trp1537Cys)
c.957G>T (p.Trp319Cys)
c.4851G>T (p.Trp1617Cys)
dbSNP
Xg.32365065C=CA2422770112DMDc.4980G= (p.Trp1660=)
c.948G= (p.Trp316=)
c.4968G= (p.Trp1656=)
c.228G= (p.Trp76=)
c.94-355G= (n.94-355G=)
n.336-148002G=
c.4956G= (p.Trp1652=)
c.4611G= (p.Trp1537=)
c.957G= (p.Trp319=)
c.4851G= (p.Trp1617=)
Xg.32365065C>GCA412671902DMDc.4980G>C (p.Trp1660Cys)
c.948G>C (p.Trp316Cys)
c.4968G>C (p.Trp1656Cys)
c.228G>C (p.Trp76Cys)
c.94-355G>C (n.94-355G>C)
n.336-148002G>C
c.4956G>C (p.Trp1652Cys)
c.4611G>C (p.Trp1537Cys)
c.957G>C (p.Trp319Cys)
c.4851G>C (p.Trp1617Cys)
Xg.32365065C>TCA412671900DMDc.4980G>A (p.Trp1660Ter)
c.948G>A (p.Trp316Ter)
c.4968G>A (p.Trp1656Ter)
c.228G>A (p.Trp76Ter)
c.94-355G>A (n.94-355G>A)
n.336-148002G>A
c.4956G>A (p.Trp1652Ter)
c.4611G>A (p.Trp1537Ter)
c.957G>A (p.Trp319Ter)
c.4851G>A (p.Trp1617Ter)
ClinVar dbSNP
Xg.32365066delCA2695234107DMDc.4980del (p.Trp1660Ter)
c.948del (p.Trp316Ter)
c.4968del (p.Trp1656Ter)
c.228del (p.Trp76Ter)
c.94-355del (n.94-355del)
n.336-148002del
c.4956del (p.Trp1652Ter)
c.4611del (p.Trp1537Ter)
c.957del (p.Trp319Ter)
c.4851del (p.Trp1617Ter)
Xg.32365066C>ACA412671905DMDc.4979G>T (p.Trp1660Leu)
c.947G>T (p.Trp316Leu)
c.4967G>T (p.Trp1656Leu)
c.227G>T (p.Trp76Leu)
c.94-356G>T (n.94-356G>T)
n.336-148003G>T
c.4955G>T (p.Trp1652Leu)
c.4610G>T (p.Trp1537Leu)
c.956G>T (p.Trp319Leu)
c.4850G>T (p.Trp1617Leu)
Xg.32365066C=CA2422770113DMDc.4979G= (p.Trp1660=)
c.947G= (p.Trp316=)
c.4967G= (p.Trp1656=)
c.227G= (p.Trp76=)
c.94-356G= (n.94-356G=)
n.336-148003G=
c.4955G= (p.Trp1652=)
c.4610G= (p.Trp1537=)
c.956G= (p.Trp319=)
c.4850G= (p.Trp1617=)
Xg.32365066C>GCA412671908DMDc.4979G>C (p.Trp1660Ser)
c.947G>C (p.Trp316Ser)
c.4967G>C (p.Trp1656Ser)
c.227G>C (p.Trp76Ser)
c.94-356G>C (n.94-356G>C)
n.336-148003G>C
c.4955G>C (p.Trp1652Ser)
c.4610G>C (p.Trp1537Ser)
c.956G>C (p.Trp319Ser)
c.4850G>C (p.Trp1617Ser)
Xg.32365066C>TCA412671906DMDc.4979G>A (p.Trp1660Ter)
c.947G>A (p.Trp316Ter)
c.4967G>A (p.Trp1656Ter)
c.227G>A (p.Trp76Ter)
c.94-356G>A (n.94-356G>A)
n.336-148003G>A
c.4955G>A (p.Trp1652Ter)
c.4610G>A (p.Trp1537Ter)
c.956G>A (p.Trp319Ter)
c.4850G>A (p.Trp1617Ter)
ClinVar dbSNP
Xg.32365067A>CCA412671911DMDc.4978T>G (p.Trp1660Gly)
c.946T>G (p.Trp316Gly)
c.4966T>G (p.Trp1656Gly)
c.226T>G (p.Trp76Gly)
c.94-357T>G (n.94-357T>G)
n.336-148004T>G
c.4954T>G (p.Trp1652Gly)
c.4609T>G (p.Trp1537Gly)
c.955T>G (p.Trp319Gly)
c.4849T>G (p.Trp1617Gly)
Xg.32365067A>GCA412671912DMDc.4978T>C (p.Trp1660Arg)
c.946T>C (p.Trp316Arg)
c.4966T>C (p.Trp1656Arg)
c.226T>C (p.Trp76Arg)
c.94-357T>C (n.94-357T>C)
n.336-148004T>C
c.4954T>C (p.Trp1652Arg)
c.4609T>C (p.Trp1537Arg)
c.955T>C (p.Trp319Arg)
c.4849T>C (p.Trp1617Arg)
Xg.32365067A>TCA412671914DMDc.4978T>A (p.Trp1660Arg)
c.946T>A (p.Trp316Arg)
c.4966T>A (p.Trp1656Arg)
c.226T>A (p.Trp76Arg)
c.94-357T>A (n.94-357T>A)
n.336-148004T>A
c.4954T>A (p.Trp1652Arg)
c.4609T>A (p.Trp1537Arg)
c.955T>A (p.Trp319Arg)
c.4849T>A (p.Trp1617Arg)
Xg.32365068G>ACA327995617DMDc.4977C>T (p.Asn1659=)
c.945C>T (p.Asn315=)
c.4965C>T (p.Asn1655=)
c.225C>T (p.Asn75=)
c.94-358C>T (n.94-358C>T)
n.336-148005C>T
c.4953C>T (p.Asn1651=)
c.4608C>T (p.Asn1536=)
c.954C>T (p.Asn318=)
c.4848C>T (p.Asn1616=)
dbSNP
Xg.32365068G>CCA412671917DMDc.4977C>G (p.Asn1659Lys)
c.945C>G (p.Asn315Lys)
c.4965C>G (p.Asn1655Lys)
c.225C>G (p.Asn75Lys)
c.94-358C>G (n.94-358C>G)
n.336-148005C>G
c.4953C>G (p.Asn1651Lys)
c.4608C>G (p.Asn1536Lys)
c.954C>G (p.Asn318Lys)
c.4848C>G (p.Asn1616Lys)
Xg.32365068G=CA2422770114DMDc.4977C= (p.Asn1659=)
c.945C= (p.Asn315=)
c.4965C= (p.Asn1655=)
c.225C= (p.Asn75=)
c.94-358C= (n.94-358C=)
n.336-148005C=
c.4953C= (p.Asn1651=)
c.4608C= (p.Asn1536=)
c.954C= (p.Asn318=)
c.4848C= (p.Asn1616=)
Xg.32365068G>TCA412671919DMDc.4977C>A (p.Asn1659Lys)
c.945C>A (p.Asn315Lys)
c.4965C>A (p.Asn1655Lys)
c.225C>A (p.Asn75Lys)
c.94-358C>A (n.94-358C>A)
n.336-148005C>A
c.4953C>A (p.Asn1651Lys)
c.4608C>A (p.Asn1536Lys)
c.954C>A (p.Asn318Lys)
c.4848C>A (p.Asn1616Lys)
Xg.32365069T>ACA412671920DMDc.4976A>T (p.Asn1659Ile)
c.944A>T (p.Asn315Ile)
c.4964A>T (p.Asn1655Ile)
c.224A>T (p.Asn75Ile)
c.94-359A>T (n.94-359A>T)
n.336-148006A>T
c.4952A>T (p.Asn1651Ile)
c.4607A>T (p.Asn1536Ile)
c.953A>T (p.Asn318Ile)
c.4847A>T (p.Asn1616Ile)
Xg.32365069T>CCA412671922DMDc.4976A>G (p.Asn1659Ser)
c.944A>G (p.Asn315Ser)
c.4964A>G (p.Asn1655Ser)
c.224A>G (p.Asn75Ser)
c.94-359A>G (n.94-359A>G)
n.336-148006A>G
c.4952A>G (p.Asn1651Ser)
c.4607A>G (p.Asn1536Ser)
c.953A>G (p.Asn318Ser)
c.4847A>G (p.Asn1616Ser)
ClinVar
Xg.32365069T>GCA412671923DMDc.4976A>C (p.Asn1659Thr)
c.944A>C (p.Asn315Thr)
c.4964A>C (p.Asn1655Thr)
c.224A>C (p.Asn75Thr)
c.94-359A>C (n.94-359A>C)
n.336-148006A>C
c.4952A>C (p.Asn1651Thr)
c.4607A>C (p.Asn1536Thr)
c.953A>C (p.Asn318Thr)
c.4847A>C (p.Asn1616Thr)
Xg.32365070dupCA2695234108DMDc.4976dup (p.Asn1659LysfsTer27)
c.944dup (p.Asn315LysfsTer27)
c.4964dup (p.Asn1655LysfsTer27)
c.224dup (p.Asn75LysfsTer27)
c.94-359dup (n.94-359dup)
n.336-148006dup
c.4952dup (p.Asn1651LysfsTer27)
c.4607dup (p.Asn1536LysfsTer27)
c.953dup (p.Asn318LysfsTer27)
c.4847dup (p.Asn1616LysfsTer27)
Xg.32365070T>ACA412671926DMDc.4975A>T (p.Asn1659Tyr)
c.943A>T (p.Asn315Tyr)
c.4963A>T (p.Asn1655Tyr)
c.223A>T (p.Asn75Tyr)
c.94-360A>T (n.94-360A>T)
n.336-148007A>T
c.4951A>T (p.Asn1651Tyr)
c.4606A>T (p.Asn1536Tyr)
c.952A>T (p.Asn318Tyr)
c.4846A>T (p.Asn1616Tyr)
Xg.32365070T>CCA412671927DMDc.4975A>G (p.Asn1659Asp)
c.943A>G (p.Asn315Asp)
c.4963A>G (p.Asn1655Asp)
c.223A>G (p.Asn75Asp)
c.94-360A>G (n.94-360A>G)
n.336-148007A>G
c.4951A>G (p.Asn1651Asp)
c.4606A>G (p.Asn1536Asp)
c.952A>G (p.Asn318Asp)
c.4846A>G (p.Asn1616Asp)
Xg.32365070T>GCA412671929DMDc.4975A>C (p.Asn1659His)
c.943A>C (p.Asn315His)
c.4963A>C (p.Asn1655His)
c.223A>C (p.Asn75His)
c.94-360A>C (n.94-360A>C)
n.336-148007A>C
c.4951A>C (p.Asn1651His)
c.4606A>C (p.Asn1536His)
c.952A>C (p.Asn318His)
c.4846A>C (p.Asn1616His)
Xg.32365071A>CCA412671931DMDc.4974T>G (p.Ser1658Arg)
c.942T>G (p.Ser314Arg)
c.4962T>G (p.Ser1654Arg)
c.222T>G (p.Ser74Arg)
c.94-361T>G (n.94-361T>G)
n.336-148008T>G
c.4950T>G (p.Ser1650Arg)
c.4605T>G (p.Ser1535Arg)
c.951T>G (p.Ser317Arg)
c.4845T>G (p.Ser1615Arg)
gnomAD v4
Xg.32365071A>GCA515714771DMDc.4974T>C (p.Ser1658=)
c.942T>C (p.Ser314=)
c.4962T>C (p.Ser1654=)
c.222T>C (p.Ser74=)
c.94-361T>C (n.94-361T>C)
n.336-148008T>C
c.4950T>C (p.Ser1650=)
c.4605T>C (p.Ser1535=)
c.951T>C (p.Ser317=)
c.4845T>C (p.Ser1615=)
Xg.32365071A>TCA412671933DMDc.4974T>A (p.Ser1658Arg)
c.942T>A (p.Ser314Arg)
c.4962T>A (p.Ser1654Arg)
c.222T>A (p.Ser74Arg)
c.94-361T>A (n.94-361T>A)
n.336-148008T>A
c.4950T>A (p.Ser1650Arg)
c.4605T>A (p.Ser1535Arg)
c.951T>A (p.Ser317Arg)
c.4845T>A (p.Ser1615Arg)
Xg.32365072C>ACA412671935DMDc.4973G>T (p.Ser1658Ile)
c.941G>T (p.Ser314Ile)
c.4961G>T (p.Ser1654Ile)
c.221G>T (p.Ser74Ile)
c.94-362G>T (n.94-362G>T)
n.336-148009G>T
c.4949G>T (p.Ser1650Ile)
c.4604G>T (p.Ser1535Ile)
c.950G>T (p.Ser317Ile)
c.4844G>T (p.Ser1615Ile)
Xg.32365072C=CA2422770115DMDc.4973G= (p.Ser1658=)
c.941G= (p.Ser314=)
c.4961G= (p.Ser1654=)
c.221G= (p.Ser74=)
c.94-362G= (n.94-362G=)
n.336-148009G=
c.4949G= (p.Ser1650=)
c.4604G= (p.Ser1535=)
c.950G= (p.Ser317=)
c.4844G= (p.Ser1615=)
Xg.32365072C>GCA412671937DMDc.4973G>C (p.Ser1658Thr)
c.941G>C (p.Ser314Thr)
c.4961G>C (p.Ser1654Thr)
c.221G>C (p.Ser74Thr)
c.94-362G>C (n.94-362G>C)
n.336-148009G>C
c.4949G>C (p.Ser1650Thr)
c.4604G>C (p.Ser1535Thr)
c.950G>C (p.Ser317Thr)
c.4844G>C (p.Ser1615Thr)
Xg.32365072C>TCA308352DMDc.4973G>A (p.Ser1658Asn)
c.941G>A (p.Ser314Asn)
c.4961G>A (p.Ser1654Asn)
c.221G>A (p.Ser74Asn)
c.94-362G>A (n.94-362G>A)
n.336-148009G>A
c.4949G>A (p.Ser1650Asn)
c.4604G>A (p.Ser1535Asn)
c.950G>A (p.Ser317Asn)
c.4844G>A (p.Ser1615Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32365073T>ACA412671940DMDc.4972A>T (p.Ser1658Cys)
c.940A>T (p.Ser314Cys)
c.4960A>T (p.Ser1654Cys)
c.220A>T (p.Ser74Cys)
c.94-363A>T (n.94-363A>T)
n.336-148010A>T
c.4948A>T (p.Ser1650Cys)
c.4603A>T (p.Ser1535Cys)
c.949A>T (p.Ser317Cys)
c.4843A>T (p.Ser1615Cys)
gnomAD v4
Xg.32365073T>CCA412671942DMDc.4972A>G (p.Ser1658Gly)
c.940A>G (p.Ser314Gly)
c.4960A>G (p.Ser1654Gly)
c.220A>G (p.Ser74Gly)
c.94-363A>G (n.94-363A>G)
n.336-148010A>G
c.4948A>G (p.Ser1650Gly)
c.4603A>G (p.Ser1535Gly)
c.949A>G (p.Ser317Gly)
c.4843A>G (p.Ser1615Gly)
Xg.32365073T>GCA412671944DMDc.4972A>C (p.Ser1658Arg)
c.940A>C (p.Ser314Arg)
c.4960A>C (p.Ser1654Arg)
c.220A>C (p.Ser74Arg)
c.94-363A>C (n.94-363A>C)
n.336-148010A>C
c.4948A>C (p.Ser1650Arg)
c.4603A>C (p.Ser1535Arg)
c.949A>C (p.Ser317Arg)
c.4843A>C (p.Ser1615Arg)
Xg.32365073T=CA2422770116DMDc.4972A= (p.Ser1658=)
c.940A= (p.Ser314=)
c.4960A= (p.Ser1654=)
c.220A= (p.Ser74=)
c.94-363A= (n.94-363A=)
n.336-148010A=
c.4948A= (p.Ser1650=)
c.4603A= (p.Ser1535=)
c.949A= (p.Ser317=)
c.4843A= (p.Ser1615=)
Xg.32365074A>CCA412671949DMDc.4971T>G (p.Asn1657Lys)
c.939T>G (p.Asn313Lys)
c.4959T>G (p.Asn1653Lys)
c.219T>G (p.Asn73Lys)
c.94-364T>G (n.94-364T>G)
n.336-148011T>G
c.4947T>G (p.Asn1649Lys)
c.4602T>G (p.Asn1534Lys)
c.948T>G (p.Asn316Lys)
c.4842T>G (p.Asn1614Lys)
Xg.32365074A>GCA515714772DMDc.4971T>C (p.Asn1657=)
c.939T>C (p.Asn313=)
c.4959T>C (p.Asn1653=)
c.219T>C (p.Asn73=)
c.94-364T>C (n.94-364T>C)
n.336-148011T>C
c.4947T>C (p.Asn1649=)
c.4602T>C (p.Asn1534=)
c.948T>C (p.Asn316=)
c.4842T>C (p.Asn1614=)
Xg.32365074A>TCA412671951DMDc.4971T>A (p.Asn1657Lys)
c.939T>A (p.Asn313Lys)
c.4959T>A (p.Asn1653Lys)
c.219T>A (p.Asn73Lys)
c.94-364T>A (n.94-364T>A)
n.336-148011T>A
c.4947T>A (p.Asn1649Lys)
c.4602T>A (p.Asn1534Lys)
c.948T>A (p.Asn316Lys)
c.4842T>A (p.Asn1614Lys)
Xg.32365075_32365120dupCA267045DMDc.4926_4971dup (p.Ser1658GlyfsTer10)
c.894_939dup (p.Ser314GlyfsTer10)
c.4914_4959dup (p.Ser1654GlyfsTer10)
c.174_219dup (p.Ser74GlyfsTer10)
c.94-409_94-364dup (n.94-409_94-364dup)
n.336-148056_336-148011dup
c.4902_4947dup (p.Ser1650GlyfsTer10)
c.4557_4602dup (p.Ser1535GlyfsTer10)
c.903_948dup (p.Ser317GlyfsTer10)
c.4797_4842dup (p.Ser1615GlyfsTer10)
dbSNP
Xg.32365075T>ACA412671956DMDc.4970A>T (p.Asn1657Ile)
c.938A>T (p.Asn313Ile)
c.4958A>T (p.Asn1653Ile)
c.218A>T (p.Asn73Ile)
c.94-365A>T (n.94-365A>T)
n.336-148012A>T
c.4946A>T (p.Asn1649Ile)
c.4601A>T (p.Asn1534Ile)
c.947A>T (p.Asn316Ile)
c.4841A>T (p.Asn1614Ile)
dbSNP
Xg.32365075T>CCA412671958DMDc.4970A>G (p.Asn1657Ser)
c.938A>G (p.Asn313Ser)
c.4958A>G (p.Asn1653Ser)
c.218A>G (p.Asn73Ser)
c.94-365A>G (n.94-365A>G)
n.336-148012A>G
c.4946A>G (p.Asn1649Ser)
c.4601A>G (p.Asn1534Ser)
c.947A>G (p.Asn316Ser)
c.4841A>G (p.Asn1614Ser)
Xg.32365075T>GCA412671954DMDc.4970A>C (p.Asn1657Thr)
c.938A>C (p.Asn313Thr)
c.4958A>C (p.Asn1653Thr)
c.218A>C (p.Asn73Thr)
c.94-365A>C (n.94-365A>C)
n.336-148012A>C
c.4946A>C (p.Asn1649Thr)
c.4601A>C (p.Asn1534Thr)
c.947A>C (p.Asn316Thr)
c.4841A>C (p.Asn1614Thr)
ClinVar gnomAD v4
Xg.32365075T=CA2422770117DMDc.4970A= (p.Asn1657=)
c.938A= (p.Asn313=)
c.4958A= (p.Asn1653=)
c.218A= (p.Asn73=)
c.94-365A= (n.94-365A=)
n.336-148012A=
c.4946A= (p.Asn1649=)
c.4601A= (p.Asn1534=)
c.947A= (p.Asn316=)
c.4841A= (p.Asn1614=)
Xg.32365076T>ACA412671961DMDc.4969A>T (p.Asn1657Tyr)
c.937A>T (p.Asn313Tyr)
c.4957A>T (p.Asn1653Tyr)
c.217A>T (p.Asn73Tyr)
c.94-366A>T (n.94-366A>T)
n.336-148013A>T
c.4945A>T (p.Asn1649Tyr)
c.4600A>T (p.Asn1534Tyr)
c.946A>T (p.Asn316Tyr)
c.4840A>T (p.Asn1614Tyr)
Xg.32365076T>CCA412671962DMDc.4969A>G (p.Asn1657Asp)
c.937A>G (p.Asn313Asp)
c.4957A>G (p.Asn1653Asp)
c.217A>G (p.Asn73Asp)
c.94-366A>G (n.94-366A>G)
n.336-148013A>G
c.4945A>G (p.Asn1649Asp)
c.4600A>G (p.Asn1534Asp)
c.946A>G (p.Asn316Asp)
c.4840A>G (p.Asn1614Asp)
Xg.32365076T>GCA412671963DMDc.4969A>C (p.Asn1657His)
c.937A>C (p.Asn313His)
c.4957A>C (p.Asn1653His)
c.217A>C (p.Asn73His)
c.94-366A>C (n.94-366A>C)
n.336-148013A>C
c.4945A>C (p.Asn1649His)
c.4600A>C (p.Asn1534His)
c.946A>C (p.Asn316His)
c.4840A>C (p.Asn1614His)
gnomAD v4
Xg.32365077C>ACA515714773DMDc.4968G>T (p.Leu1656=)
c.936G>T (p.Leu312=)
c.4956G>T (p.Leu1652=)
c.216G>T (p.Leu72=)
c.94-367G>T (n.94-367G>T)
n.336-148014G>T
c.4944G>T (p.Leu1648=)
c.4599G>T (p.Leu1533=)
c.945G>T (p.Leu315=)
c.4839G>T (p.Leu1613=)
Xg.32365077C>GCA515714774DMDc.4968G>C (p.Leu1656=)
c.936G>C (p.Leu312=)
c.4956G>C (p.Leu1652=)
c.216G>C (p.Leu72=)
c.94-367G>C (n.94-367G>C)
n.336-148014G>C
c.4944G>C (p.Leu1648=)
c.4599G>C (p.Leu1533=)
c.945G>C (p.Leu315=)
c.4839G>C (p.Leu1613=)
Xg.32365077C>TCA515714775DMDc.4968G>A (p.Leu1656=)
c.936G>A (p.Leu312=)
c.4956G>A (p.Leu1652=)
c.216G>A (p.Leu72=)
c.94-367G>A (n.94-367G>A)
n.336-148014G>A
c.4944G>A (p.Leu1648=)
c.4599G>A (p.Leu1533=)
c.945G>A (p.Leu315=)
c.4839G>A (p.Leu1613=)
Xg.32365078A=CA2422770118DMDc.4967T= (p.Leu1656=)
c.935T= (p.Leu312=)
c.4955T= (p.Leu1652=)
c.215T= (p.Leu72=)
c.94-368T= (n.94-368T=)
n.336-148015T=
c.4943T= (p.Leu1648=)
c.4598T= (p.Leu1533=)
c.944T= (p.Leu315=)
c.4838T= (p.Leu1613=)
Xg.32365078A>CCA412671965DMDc.4967T>G (p.Leu1656Arg)
c.935T>G (p.Leu312Arg)
c.4955T>G (p.Leu1652Arg)
c.215T>G (p.Leu72Arg)
c.94-368T>G (n.94-368T>G)
n.336-148015T>G
c.4943T>G (p.Leu1648Arg)
c.4598T>G (p.Leu1533Arg)
c.944T>G (p.Leu315Arg)
c.4838T>G (p.Leu1613Arg)
Xg.32365078A>GCA412671966DMDc.4967T>C (p.Leu1656Pro)
c.935T>C (p.Leu312Pro)
c.4955T>C (p.Leu1652Pro)
c.215T>C (p.Leu72Pro)
c.94-368T>C (n.94-368T>C)
n.336-148015T>C
c.4943T>C (p.Leu1648Pro)
c.4598T>C (p.Leu1533Pro)
c.944T>C (p.Leu315Pro)
c.4838T>C (p.Leu1613Pro)
Xg.32365078A>TCA412671968DMDc.4967T>A (p.Leu1656Gln)
c.935T>A (p.Leu312Gln)
c.4955T>A (p.Leu1652Gln)
c.215T>A (p.Leu72Gln)
c.94-368T>A (n.94-368T>A)
n.336-148015T>A
c.4943T>A (p.Leu1648Gln)
c.4598T>A (p.Leu1533Gln)
c.944T>A (p.Leu315Gln)
c.4838T>A (p.Leu1613Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32365079G>ACA515714776DMDc.4966C>T (p.Leu1656=)
c.934C>T (p.Leu312=)
c.4954C>T (p.Leu1652=)
c.214C>T (p.Leu72=)
c.94-369C>T (n.94-369C>T)
n.336-148016C>T
c.4942C>T (p.Leu1648=)
c.4597C>T (p.Leu1533=)
c.943C>T (p.Leu315=)
c.4837C>T (p.Leu1613=)
Xg.32365079G>CCA412671970DMDc.4966C>G (p.Leu1656Val)
c.934C>G (p.Leu312Val)
c.4954C>G (p.Leu1652Val)
c.214C>G (p.Leu72Val)
c.94-369C>G (n.94-369C>G)
n.336-148016C>G
c.4942C>G (p.Leu1648Val)
c.4597C>G (p.Leu1533Val)
c.943C>G (p.Leu315Val)
c.4837C>G (p.Leu1613Val)
Xg.32365079G>TCA412671972DMDc.4966C>A (p.Leu1656Met)
c.934C>A (p.Leu312Met)
c.4954C>A (p.Leu1652Met)
c.214C>A (p.Leu72Met)
c.94-369C>A (n.94-369C>A)
n.336-148016C>A
c.4942C>A (p.Leu1648Met)
c.4597C>A (p.Leu1533Met)
c.943C>A (p.Leu315Met)
c.4837C>A (p.Leu1613Met)
Xg.32365080A>CCA515714777DMDc.4965T>G (p.Leu1655=)
c.933T>G (p.Leu311=)
c.4953T>G (p.Leu1651=)
c.213T>G (p.Leu71=)
c.94-370T>G (n.94-370T>G)
n.336-148017T>G
c.4941T>G (p.Leu1647=)
c.4596T>G (p.Leu1532=)
c.942T>G (p.Leu314=)
c.4836T>G (p.Leu1612=)
Xg.32365080A>GCA515714778DMDc.4965T>C (p.Leu1655=)
c.933T>C (p.Leu311=)
c.4953T>C (p.Leu1651=)
c.213T>C (p.Leu71=)
c.94-370T>C (n.94-370T>C)
n.336-148017T>C
c.4941T>C (p.Leu1647=)
c.4596T>C (p.Leu1532=)
c.942T>C (p.Leu314=)
c.4836T>C (p.Leu1612=)
Xg.32365080A>TCA515714779DMDc.4965T>A (p.Leu1655=)
c.933T>A (p.Leu311=)
c.4953T>A (p.Leu1651=)
c.213T>A (p.Leu71=)
c.94-370T>A (n.94-370T>A)
n.336-148017T>A
c.4941T>A (p.Leu1647=)
c.4596T>A (p.Leu1532=)
c.942T>A (p.Leu314=)
c.4836T>A (p.Leu1612=)
Xg.32365081A>CCA412671974DMDc.4964T>G (p.Leu1655Arg)
c.932T>G (p.Leu311Arg)
c.4952T>G (p.Leu1651Arg)
c.212T>G (p.Leu71Arg)
c.94-371T>G (n.94-371T>G)
n.336-148018T>G
c.4940T>G (p.Leu1647Arg)
c.4595T>G (p.Leu1532Arg)
c.941T>G (p.Leu314Arg)
c.4835T>G (p.Leu1612Arg)
Xg.32365081A>GCA412671976DMDc.4964T>C (p.Leu1655Pro)
c.932T>C (p.Leu311Pro)
c.4952T>C (p.Leu1651Pro)
c.212T>C (p.Leu71Pro)
c.94-371T>C (n.94-371T>C)
n.336-148018T>C
c.4940T>C (p.Leu1647Pro)
c.4595T>C (p.Leu1532Pro)
c.941T>C (p.Leu314Pro)
c.4835T>C (p.Leu1612Pro)
Xg.32365081A>TCA412671978DMDc.4964T>A (p.Leu1655His)
c.932T>A (p.Leu311His)
c.4952T>A (p.Leu1651His)
c.212T>A (p.Leu71His)
c.94-371T>A (n.94-371T>A)
n.336-148018T>A
c.4940T>A (p.Leu1647His)
c.4595T>A (p.Leu1532His)
c.941T>A (p.Leu314His)
c.4835T>A (p.Leu1612His)
Xg.32365082G>ACA412671981DMDc.4963C>T (p.Leu1655Phe)
c.931C>T (p.Leu311Phe)
c.4951C>T (p.Leu1651Phe)
c.211C>T (p.Leu71Phe)
c.94-372C>T (n.94-372C>T)
n.336-148019C>T
c.4939C>T (p.Leu1647Phe)
c.4594C>T (p.Leu1532Phe)
c.940C>T (p.Leu314Phe)
c.4834C>T (p.Leu1612Phe)
Xg.32365082G>CCA412671983DMDc.4963C>G (p.Leu1655Val)
c.931C>G (p.Leu311Val)
c.4951C>G (p.Leu1651Val)
c.211C>G (p.Leu71Val)
c.94-372C>G (n.94-372C>G)
n.336-148019C>G
c.4939C>G (p.Leu1647Val)
c.4594C>G (p.Leu1532Val)
c.940C>G (p.Leu314Val)
c.4834C>G (p.Leu1612Val)
Xg.32365082G>TCA412671980DMDc.4963C>A (p.Leu1655Ile)
c.931C>A (p.Leu311Ile)
c.4951C>A (p.Leu1651Ile)
c.211C>A (p.Leu71Ile)
c.94-372C>A (n.94-372C>A)
n.336-148019C>A
c.4939C>A (p.Leu1647Ile)
c.4594C>A (p.Leu1532Ile)
c.940C>A (p.Leu314Ile)
c.4834C>A (p.Leu1612Ile)
Xg.32365083A>CCA412671985DMDc.4962T>G (p.Ser1654Arg)
c.930T>G (p.Ser310Arg)
c.4950T>G (p.Ser1650Arg)
c.210T>G (p.Ser70Arg)
c.94-373T>G (n.94-373T>G)
n.336-148020T>G
c.4938T>G (p.Ser1646Arg)
c.4593T>G (p.Ser1531Arg)
c.939T>G (p.Ser313Arg)
c.4833T>G (p.Ser1611Arg)
Xg.32365083A>GCA515714780DMDc.4962T>C (p.Ser1654=)
c.930T>C (p.Ser310=)
c.4950T>C (p.Ser1650=)
c.210T>C (p.Ser70=)
c.94-373T>C (n.94-373T>C)
n.336-148020T>C
c.4938T>C (p.Ser1646=)
c.4593T>C (p.Ser1531=)
c.939T>C (p.Ser313=)
c.4833T>C (p.Ser1611=)
Xg.32365083A>TCA412671986DMDc.4962T>A (p.Ser1654Arg)
c.930T>A (p.Ser310Arg)
c.4950T>A (p.Ser1650Arg)
c.210T>A (p.Ser70Arg)
c.94-373T>A (n.94-373T>A)
n.336-148020T>A
c.4938T>A (p.Ser1646Arg)
c.4593T>A (p.Ser1531Arg)
c.939T>A (p.Ser313Arg)
c.4833T>A (p.Ser1611Arg)
Xg.32365084delCA2580100630DMDc.4961del (p.Ser1654IlefsTer3)
c.929del (p.Ser310IlefsTer3)
c.4949del (p.Ser1650IlefsTer3)
c.209del (p.Ser70IlefsTer3)
c.94-374del (n.94-374del)
n.336-148021del
c.4937del (p.Ser1646IlefsTer3)
c.4592del (p.Ser1531IlefsTer3)
c.938del (p.Ser313IlefsTer3)
c.4832del (p.Ser1611IlefsTer3)
ClinVar
Xg.32365084C>ACA412671987DMDc.4961G>T (p.Ser1654Ile)
c.929G>T (p.Ser310Ile)
c.4949G>T (p.Ser1650Ile)
c.209G>T (p.Ser70Ile)
c.94-374G>T (n.94-374G>T)
n.336-148021G>T
c.4937G>T (p.Ser1646Ile)
c.4592G>T (p.Ser1531Ile)
c.938G>T (p.Ser313Ile)
c.4832G>T (p.Ser1611Ile)
Xg.32365084C>GCA412671989DMDc.4961G>C (p.Ser1654Thr)
c.929G>C (p.Ser310Thr)
c.4949G>C (p.Ser1650Thr)
c.209G>C (p.Ser70Thr)
c.94-374G>C (n.94-374G>C)
n.336-148021G>C
c.4937G>C (p.Ser1646Thr)
c.4592G>C (p.Ser1531Thr)
c.938G>C (p.Ser313Thr)
c.4832G>C (p.Ser1611Thr)
Xg.32365084C>TCA412671990DMDc.4961G>A (p.Ser1654Asn)
c.929G>A (p.Ser310Asn)
c.4949G>A (p.Ser1650Asn)
c.209G>A (p.Ser70Asn)
c.94-374G>A (n.94-374G>A)
n.336-148021G>A
c.4937G>A (p.Ser1646Asn)
c.4592G>A (p.Ser1531Asn)
c.938G>A (p.Ser313Asn)
c.4832G>A (p.Ser1611Asn)
Xg.32365085T>ACA412671994DMDc.4960A>T (p.Ser1654Cys)
c.928A>T (p.Ser310Cys)
c.4948A>T (p.Ser1650Cys)
c.208A>T (p.Ser70Cys)
c.94-375A>T (n.94-375A>T)
n.336-148022A>T
c.4936A>T (p.Ser1646Cys)
c.4591A>T (p.Ser1531Cys)
c.937A>T (p.Ser313Cys)
c.4831A>T (p.Ser1611Cys)
Xg.32365085T>CCA412671991DMDc.4960A>G (p.Ser1654Gly)
c.928A>G (p.Ser310Gly)
c.4948A>G (p.Ser1650Gly)
c.208A>G (p.Ser70Gly)
c.94-375A>G (n.94-375A>G)
n.336-148022A>G
c.4936A>G (p.Ser1646Gly)
c.4591A>G (p.Ser1531Gly)
c.937A>G (p.Ser313Gly)
c.4831A>G (p.Ser1611Gly)
ClinVar dbSNP
Xg.32365085T>GCA412671992DMDc.4960A>C (p.Ser1654Arg)
c.928A>C (p.Ser310Arg)
c.4948A>C (p.Ser1650Arg)
c.208A>C (p.Ser70Arg)
c.94-375A>C (n.94-375A>C)
n.336-148022A>C
c.4936A>C (p.Ser1646Arg)
c.4591A>C (p.Ser1531Arg)
c.937A>C (p.Ser313Arg)
c.4831A>C (p.Ser1611Arg)
Xg.32365085dupCA2695234110DMDc.4960dup (p.Ser1654LysfsTer5)
c.928dup (p.Ser310LysfsTer5)
c.4948dup (p.Ser1650LysfsTer5)
c.208dup (p.Ser70LysfsTer5)
c.94-375dup (n.94-375dup)
n.336-148022dup
c.4936dup (p.Ser1646LysfsTer5)
c.4591dup (p.Ser1531LysfsTer5)
c.937dup (p.Ser313LysfsTer5)
c.4831dup (p.Ser1611LysfsTer5)
Xg.32365085_32365086delCA2695234109DMDc.4959_4960del (p.Leu1655SerfsTer3)
c.927_928del (p.Leu311SerfsTer3)
c.4947_4948del (p.Leu1651SerfsTer3)
c.207_208del (p.Leu71SerfsTer3)
c.94-376_94-375del (n.94-376_94-375del)
n.336-148023_336-148022del
c.4935_4936del (p.Leu1647SerfsTer3)
c.4590_4591del (p.Leu1532SerfsTer3)
c.936_937del (p.Leu314SerfsTer3)
c.4830_4831del (p.Leu1612SerfsTer3)
Xg.32365086G>ACA515714781DMDc.4959C>T (p.Leu1653=)
c.927C>T (p.Leu309=)
c.4947C>T (p.Leu1649=)
c.207C>T (p.Leu69=)
c.94-376C>T (n.94-376C>T)
n.336-148023C>T
c.4935C>T (p.Leu1645=)
c.4590C>T (p.Leu1530=)
c.936C>T (p.Leu312=)
c.4830C>T (p.Leu1610=)
COSMIC COSMIC COSMIC COSMIC
Xg.32365086G>CCA327995640DMDc.4959C>G (p.Leu1653=)
c.927C>G (p.Leu309=)
c.4947C>G (p.Leu1649=)
c.207C>G (p.Leu69=)
c.94-376C>G (n.94-376C>G)
n.336-148023C>G
c.4935C>G (p.Leu1645=)
c.4590C>G (p.Leu1530=)
c.936C>G (p.Leu312=)
c.4830C>G (p.Leu1610=)
dbSNP
Xg.32365086G=CA2422770119DMDc.4959C= (p.Leu1653=)
c.927C= (p.Leu309=)
c.4947C= (p.Leu1649=)
c.207C= (p.Leu69=)
c.94-376C= (n.94-376C=)
n.336-148023C=
c.4935C= (p.Leu1645=)
c.4590C= (p.Leu1530=)
c.936C= (p.Leu312=)
c.4830C= (p.Leu1610=)
Xg.32365086G>TCA515714782DMDc.4959C>A (p.Leu1653=)
c.927C>A (p.Leu309=)
c.4947C>A (p.Leu1649=)
c.207C>A (p.Leu69=)
c.94-376C>A (n.94-376C>A)
n.336-148023C>A
c.4935C>A (p.Leu1645=)
c.4590C>A (p.Leu1530=)
c.936C>A (p.Leu312=)
c.4830C>A (p.Leu1610=)
Xg.32365087_32365088delCA2695238934DMDc.4958_4959del (p.Leu1653GlnfsTer5)
c.926_927del (p.Leu309GlnfsTer5)
c.4946_4947del (p.Leu1649GlnfsTer5)
c.206_207del (p.Leu69GlnfsTer5)
c.94-377_94-376del (n.94-377_94-376del)
n.336-148024_336-148023del
c.4934_4935del (p.Leu1645GlnfsTer5)
c.4589_4590del (p.Leu1530GlnfsTer5)
c.935_936del (p.Leu312GlnfsTer5)
c.4829_4830del (p.Leu1610GlnfsTer5)
Xg.32365087A>CCA412671996DMDc.4958T>G (p.Leu1653Arg)
c.926T>G (p.Leu309Arg)
c.4946T>G (p.Leu1649Arg)
c.206T>G (p.Leu69Arg)
c.94-377T>G (n.94-377T>G)
n.336-148024T>G
c.4934T>G (p.Leu1645Arg)
c.4589T>G (p.Leu1530Arg)
c.935T>G (p.Leu312Arg)
c.4829T>G (p.Leu1610Arg)
Xg.32365087A>GCA412671998DMDc.4958T>C (p.Leu1653Pro)
c.926T>C (p.Leu309Pro)
c.4946T>C (p.Leu1649Pro)
c.206T>C (p.Leu69Pro)
c.94-377T>C (n.94-377T>C)
n.336-148024T>C
c.4934T>C (p.Leu1645Pro)
c.4589T>C (p.Leu1530Pro)
c.935T>C (p.Leu312Pro)
c.4829T>C (p.Leu1610Pro)
Xg.32365087A>TCA412672000DMDc.4958T>A (p.Leu1653His)
c.926T>A (p.Leu309His)
c.4946T>A (p.Leu1649His)
c.206T>A (p.Leu69His)
c.94-377T>A (n.94-377T>A)
n.336-148024T>A
c.4934T>A (p.Leu1645His)
c.4589T>A (p.Leu1530His)
c.935T>A (p.Leu312His)
c.4829T>A (p.Leu1610His)
COSMIC COSMIC COSMIC COSMIC
Xg.32365088G>ACA412672002DMDc.4957C>T (p.Leu1653Phe)
c.925C>T (p.Leu309Phe)
c.4945C>T (p.Leu1649Phe)
c.205C>T (p.Leu69Phe)
c.94-378C>T (n.94-378C>T)
n.336-148025C>T
c.4933C>T (p.Leu1645Phe)
c.4588C>T (p.Leu1530Phe)
c.934C>T (p.Leu312Phe)
c.4828C>T (p.Leu1610Phe)
gnomAD v4
Xg.32365088G>CCA412672003DMDc.4957C>G (p.Leu1653Val)
c.925C>G (p.Leu309Val)
c.4945C>G (p.Leu1649Val)
c.205C>G (p.Leu69Val)
c.94-378C>G (n.94-378C>G)
n.336-148025C>G
c.4933C>G (p.Leu1645Val)
c.4588C>G (p.Leu1530Val)
c.934C>G (p.Leu312Val)
c.4828C>G (p.Leu1610Val)
Xg.32365088G>TCA412672005DMDc.4957C>A (p.Leu1653Ile)
c.925C>A (p.Leu309Ile)
c.4945C>A (p.Leu1649Ile)
c.205C>A (p.Leu69Ile)
c.94-378C>A (n.94-378C>A)
n.336-148025C>A
c.4933C>A (p.Leu1645Ile)
c.4588C>A (p.Leu1530Ile)
c.934C>A (p.Leu312Ile)
c.4828C>A (p.Leu1610Ile)
Xg.32365089T>ACA412672010DMDc.4956A>T (p.Lys1652Asn)
c.924A>T (p.Lys308Asn)
c.4944A>T (p.Lys1648Asn)
c.204A>T (p.Lys68Asn)
c.94-379A>T (n.94-379A>T)
n.336-148026A>T
c.4932A>T (p.Lys1644Asn)
c.4587A>T (p.Lys1529Asn)
c.933A>T (p.Lys311Asn)
c.4827A>T (p.Lys1609Asn)
Xg.32365089T>CCA515714783DMDc.4956A>G (p.Lys1652=)
c.924A>G (p.Lys308=)
c.4944A>G (p.Lys1648=)
c.204A>G (p.Lys68=)
c.94-379A>G (n.94-379A>G)
n.336-148026A>G
c.4932A>G (p.Lys1644=)
c.4587A>G (p.Lys1529=)
c.933A>G (p.Lys311=)
c.4827A>G (p.Lys1609=)
Xg.32365089T>GCA412672008DMDc.4956A>C (p.Lys1652Asn)
c.924A>C (p.Lys308Asn)
c.4944A>C (p.Lys1648Asn)
c.204A>C (p.Lys68Asn)
c.94-379A>C (n.94-379A>C)
n.336-148026A>C
c.4932A>C (p.Lys1644Asn)
c.4587A>C (p.Lys1529Asn)
c.933A>C (p.Lys311Asn)
c.4827A>C (p.Lys1609Asn)
Xg.32365091dupCA2695234111DMDc.4956dup (p.Leu1653ThrfsTer6)
c.924dup (p.Leu309ThrfsTer6)
c.4944dup (p.Leu1649ThrfsTer6)
c.204dup (p.Leu69ThrfsTer6)
c.94-379dup (n.94-379dup)
n.336-148026dup
c.4932dup (p.Leu1645ThrfsTer6)
c.4587dup (p.Leu1530ThrfsTer6)
c.933dup (p.Leu312ThrfsTer6)
c.4827dup (p.Leu1610ThrfsTer6)
Xg.32365090T>ACA412672012DMDc.4955A>T (p.Lys1652Ile)
c.923A>T (p.Lys308Ile)
c.4943A>T (p.Lys1648Ile)
c.203A>T (p.Lys68Ile)
c.94-380A>T (n.94-380A>T)
n.336-148027A>T
c.4931A>T (p.Lys1644Ile)
c.4586A>T (p.Lys1529Ile)
c.932A>T (p.Lys311Ile)
c.4826A>T (p.Lys1609Ile)
Xg.32365090T>CCA412672016DMDc.4955A>G (p.Lys1652Arg)
c.923A>G (p.Lys308Arg)
c.4943A>G (p.Lys1648Arg)
c.203A>G (p.Lys68Arg)
c.94-380A>G (n.94-380A>G)
n.336-148027A>G
c.4931A>G (p.Lys1644Arg)
c.4586A>G (p.Lys1529Arg)
c.932A>G (p.Lys311Arg)
c.4826A>G (p.Lys1609Arg)
Xg.32365090T>GCA412672014DMDc.4955A>C (p.Lys1652Thr)
c.923A>C (p.Lys308Thr)
c.4943A>C (p.Lys1648Thr)
c.203A>C (p.Lys68Thr)
c.94-380A>C (n.94-380A>C)
n.336-148027A>C
c.4931A>C (p.Lys1644Thr)
c.4586A>C (p.Lys1529Thr)
c.932A>C (p.Lys311Thr)
c.4826A>C (p.Lys1609Thr)
Xg.32365091T>ACA412672019DMDc.4954A>T (p.Lys1652Ter)
c.922A>T (p.Lys308Ter)
c.4942A>T (p.Lys1648Ter)
c.202A>T (p.Lys68Ter)
c.94-381A>T (n.94-381A>T)
n.336-148028A>T
c.4930A>T (p.Lys1644Ter)
c.4585A>T (p.Lys1529Ter)
c.931A>T (p.Lys311Ter)
c.4825A>T (p.Lys1609Ter)
dbSNP
Xg.32365091T>CCA412672021DMDc.4954A>G (p.Lys1652Glu)
c.922A>G (p.Lys308Glu)
c.4942A>G (p.Lys1648Glu)
c.202A>G (p.Lys68Glu)
c.94-381A>G (n.94-381A>G)
n.336-148028A>G
c.4930A>G (p.Lys1644Glu)
c.4585A>G (p.Lys1529Glu)
c.931A>G (p.Lys311Glu)
c.4825A>G (p.Lys1609Glu)
Xg.32365091T>GCA412672023DMDc.4954A>C (p.Lys1652Gln)
c.922A>C (p.Lys308Gln)
c.4942A>C (p.Lys1648Gln)
c.202A>C (p.Lys68Gln)
c.94-381A>C (n.94-381A>C)
n.336-148028A>C
c.4930A>C (p.Lys1644Gln)
c.4585A>C (p.Lys1529Gln)
c.931A>C (p.Lys311Gln)
c.4825A>C (p.Lys1609Gln)
Xg.32365092A=CA2422770120DMDc.4953T= (p.Asp1651=)
c.921T= (p.Asp307=)
c.4941T= (p.Asp1647=)
c.201T= (p.Asp67=)
c.94-382T= (n.94-382T=)
n.336-148029T=
c.4929T= (p.Asp1643=)
c.4584T= (p.Asp1528=)
c.930T= (p.Asp310=)
c.4824T= (p.Asp1608=)
Xg.32365092A>CCA10378815DMDc.4953T>G (p.Asp1651Glu)
c.921T>G (p.Asp307Glu)
c.4941T>G (p.Asp1647Glu)
c.201T>G (p.Asp67Glu)
c.94-382T>G (n.94-382T>G)
n.336-148029T>G
c.4929T>G (p.Asp1643Glu)
c.4584T>G (p.Asp1528Glu)
c.930T>G (p.Asp310Glu)
c.4824T>G (p.Asp1608Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32365092A>GCA10378814DMDc.4953T>C (p.Asp1651=)
c.921T>C (p.Asp307=)
c.4941T>C (p.Asp1647=)
c.201T>C (p.Asp67=)
c.94-382T>C (n.94-382T>C)
n.336-148029T>C
c.4929T>C (p.Asp1643=)
c.4584T>C (p.Asp1528=)
c.930T>C (p.Asp310=)
c.4824T>C (p.Asp1608=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365092A>TCA412672026DMDc.4953T>A (p.Asp1651Glu)
c.921T>A (p.Asp307Glu)
c.4941T>A (p.Asp1647Glu)
c.201T>A (p.Asp67Glu)
c.94-382T>A (n.94-382T>A)
n.336-148029T>A
c.4929T>A (p.Asp1643Glu)
c.4584T>A (p.Asp1528Glu)
c.930T>A (p.Asp310Glu)
c.4824T>A (p.Asp1608Glu)
Xg.32365093T>ACA412672028DMDc.4952A>T (p.Asp1651Val)
c.920A>T (p.Asp307Val)
c.4940A>T (p.Asp1647Val)
c.200A>T (p.Asp67Val)
c.94-383A>T (n.94-383A>T)
n.336-148030A>T
c.4928A>T (p.Asp1643Val)
c.4583A>T (p.Asp1528Val)
c.929A>T (p.Asp310Val)
c.4823A>T (p.Asp1608Val)
Xg.32365093T>CCA412672030DMDc.4952A>G (p.Asp1651Gly)
c.920A>G (p.Asp307Gly)
c.4940A>G (p.Asp1647Gly)
c.200A>G (p.Asp67Gly)
c.94-383A>G (n.94-383A>G)
n.336-148030A>G
c.4928A>G (p.Asp1643Gly)
c.4583A>G (p.Asp1528Gly)
c.929A>G (p.Asp310Gly)
c.4823A>G (p.Asp1608Gly)
gnomAD v4
Xg.32365093T>GCA412672032DMDc.4952A>C (p.Asp1651Ala)
c.920A>C (p.Asp307Ala)
c.4940A>C (p.Asp1647Ala)
c.200A>C (p.Asp67Ala)
c.94-383A>C (n.94-383A>C)
n.336-148030A>C
c.4928A>C (p.Asp1643Ala)
c.4583A>C (p.Asp1528Ala)
c.929A>C (p.Asp310Ala)
c.4823A>C (p.Asp1608Ala)
Xg.32365096_32365108delCA2695234112DMDc.4940_4952del (p.Thr1647IlefsTer6)
c.908_920del (p.Thr303IlefsTer6)
c.4928_4940del (p.Thr1643IlefsTer6)
c.188_200del (p.Thr63IlefsTer6)
c.94-395_94-383del (n.94-395_94-383del)
n.336-148042_336-148030del
c.4916_4928del (p.Thr1639IlefsTer6)
c.4571_4583del (p.Thr1524IlefsTer6)
c.917_929del (p.Thr306IlefsTer6)
c.4811_4823del (p.Thr1604IlefsTer6)
Xg.32365094C>ACA412672034DMDc.4951G>T (p.Asp1651Tyr)
c.919G>T (p.Asp307Tyr)
c.4939G>T (p.Asp1647Tyr)
c.199G>T (p.Asp67Tyr)
c.94-384G>T (n.94-384G>T)
n.336-148031G>T
c.4927G>T (p.Asp1643Tyr)
c.4582G>T (p.Asp1528Tyr)
c.928G>T (p.Asp310Tyr)
c.4822G>T (p.Asp1608Tyr)
COSMIC COSMIC COSMIC COSMIC
Xg.32365094C=CA2422770121DMDc.4951G= (p.Asp1651=)
c.919G= (p.Asp307=)
c.4939G= (p.Asp1647=)
c.199G= (p.Asp67=)
c.94-384G= (n.94-384G=)
n.336-148031G=
c.4927G= (p.Asp1643=)
c.4582G= (p.Asp1528=)
c.928G= (p.Asp310=)
c.4822G= (p.Asp1608=)
Xg.32365094C>GCA412672036DMDc.4951G>C (p.Asp1651His)
c.919G>C (p.Asp307His)
c.4939G>C (p.Asp1647His)
c.199G>C (p.Asp67His)
c.94-384G>C (n.94-384G>C)
n.336-148031G>C
c.4927G>C (p.Asp1643His)
c.4582G>C (p.Asp1528His)
c.928G>C (p.Asp310His)
c.4822G>C (p.Asp1608His)
Xg.32365094C>TCA412672038DMDc.4951G>A (p.Asp1651Asn)
c.919G>A (p.Asp307Asn)
c.4939G>A (p.Asp1647Asn)
c.199G>A (p.Asp67Asn)
c.94-384G>A (n.94-384G>A)
n.336-148031G>A
c.4927G>A (p.Asp1643Asn)
c.4582G>A (p.Asp1528Asn)
c.928G>A (p.Asp310Asn)
c.4822G>A (p.Asp1608Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32365095T>ACA412672042DMDc.4950A>T (p.Glu1650Asp)
c.918A>T (p.Glu306Asp)
c.4938A>T (p.Glu1646Asp)
c.198A>T (p.Glu66Asp)
c.94-385A>T (n.94-385A>T)
n.336-148032A>T
c.4926A>T (p.Glu1642Asp)
c.4581A>T (p.Glu1527Asp)
c.927A>T (p.Glu309Asp)
c.4821A>T (p.Glu1607Asp)
dbSNP gnomAD v2 gnomAD v4
Xg.32365095T>CCA515714784DMDc.4950A>G (p.Glu1650=)
c.918A>G (p.Glu306=)
c.4938A>G (p.Glu1646=)
c.198A>G (p.Glu66=)
c.94-385A>G (n.94-385A>G)
n.336-148032A>G
c.4926A>G (p.Glu1642=)
c.4581A>G (p.Glu1527=)
c.927A>G (p.Glu309=)
c.4821A>G (p.Glu1607=)
Xg.32365095T>GCA412672040DMDc.4950A>C (p.Glu1650Asp)
c.918A>C (p.Glu306Asp)
c.4938A>C (p.Glu1646Asp)
c.198A>C (p.Glu66Asp)
c.94-385A>C (n.94-385A>C)
n.336-148032A>C
c.4926A>C (p.Glu1642Asp)
c.4581A>C (p.Glu1527Asp)
c.927A>C (p.Glu309Asp)
c.4821A>C (p.Glu1607Asp)
Xg.32365095T=CA2422770122DMDc.4950A= (p.Glu1650=)
c.918A= (p.Glu306=)
c.4938A= (p.Glu1646=)
c.198A= (p.Glu66=)
c.94-385A= (n.94-385A=)
n.336-148032A=
c.4926A= (p.Glu1642=)
c.4581A= (p.Glu1527=)
c.927A= (p.Glu309=)
c.4821A= (p.Glu1607=)
Xg.32365096T>ACA412672044DMDc.4949A>T (p.Glu1650Val)
c.917A>T (p.Glu306Val)
c.4937A>T (p.Glu1646Val)
c.197A>T (p.Glu66Val)
c.94-386A>T (n.94-386A>T)
n.336-148033A>T
c.4925A>T (p.Glu1642Val)
c.4580A>T (p.Glu1527Val)
c.926A>T (p.Glu309Val)
c.4820A>T (p.Glu1607Val)
Xg.32365096T>CCA412672045DMDc.4949A>G (p.Glu1650Gly)
c.917A>G (p.Glu306Gly)
c.4937A>G (p.Glu1646Gly)
c.197A>G (p.Glu66Gly)
c.94-386A>G (n.94-386A>G)
n.336-148033A>G
c.4925A>G (p.Glu1642Gly)
c.4580A>G (p.Glu1527Gly)
c.926A>G (p.Glu309Gly)
c.4820A>G (p.Glu1607Gly)
Xg.32365096T>GCA412672048DMDc.4949A>C (p.Glu1650Ala)
c.917A>C (p.Glu306Ala)
c.4937A>C (p.Glu1646Ala)
c.197A>C (p.Glu66Ala)
c.94-386A>C (n.94-386A>C)
n.336-148033A>C
c.4925A>C (p.Glu1642Ala)
c.4580A>C (p.Glu1527Ala)
c.926A>C (p.Glu309Ala)
c.4820A>C (p.Glu1607Ala)
Xg.32365097C>ACA412672050DMDc.4948G>T (p.Glu1650Ter)
c.916G>T (p.Glu306Ter)
c.4936G>T (p.Glu1646Ter)
c.196G>T (p.Glu66Ter)
c.94-387G>T (n.94-387G>T)
n.336-148034G>T
c.4924G>T (p.Glu1642Ter)
c.4579G>T (p.Glu1527Ter)
c.925G>T (p.Glu309Ter)
c.4819G>T (p.Glu1607Ter)
Xg.32365097C>GCA412672051DMDc.4948G>C (p.Glu1650Gln)
c.916G>C (p.Glu306Gln)
c.4936G>C (p.Glu1646Gln)
c.196G>C (p.Glu66Gln)
c.94-387G>C (n.94-387G>C)
n.336-148034G>C
c.4924G>C (p.Glu1642Gln)
c.4579G>C (p.Glu1527Gln)
c.925G>C (p.Glu309Gln)
c.4819G>C (p.Glu1607Gln)
Xg.32365097C>TCA412672053DMDc.4948G>A (p.Glu1650Lys)
c.916G>A (p.Glu306Lys)
c.4936G>A (p.Glu1646Lys)
c.196G>A (p.Glu66Lys)
c.94-387G>A (n.94-387G>A)
n.336-148034G>A
c.4924G>A (p.Glu1642Lys)
c.4579G>A (p.Glu1527Lys)
c.925G>A (p.Glu309Lys)
c.4819G>A (p.Glu1607Lys)
Xg.32365098delCA2738490106DMDc.4948del (p.Glu1650LysfsTer7)
c.916del (p.Glu306LysfsTer7)
c.4936del (p.Glu1646LysfsTer7)
c.196del (p.Glu66LysfsTer7)
c.94-387del (n.94-387del)
n.336-148034del
c.4924del (p.Glu1642LysfsTer7)
c.4579del (p.Glu1527LysfsTer7)
c.925del (p.Glu309LysfsTer7)
c.4819del (p.Glu1607LysfsTer7)
dbSNP
Xg.32365100_32365102delCA2579579573DMDc.4946_4948del (p.Val1649del)
c.914_916del (p.Val305del)
c.4934_4936del (p.Val1645del)
c.194_196del (p.Val65del)
c.94-389_94-387del (n.94-389_94-387del)
n.336-148036_336-148034del
c.4922_4924del (p.Val1641del)
c.4577_4579del (p.Val1526del)
c.923_925del (p.Val308del)
c.4817_4819del (p.Val1606del)
Xg.32365098C>ACA515714785DMDc.4947G>T (p.Val1649=)
c.915G>T (p.Val305=)
c.4935G>T (p.Val1645=)
c.195G>T (p.Val65=)
c.94-388G>T (n.94-388G>T)
n.336-148035G>T
c.4923G>T (p.Val1641=)
c.4578G>T (p.Val1526=)
c.924G>T (p.Val308=)
c.4818G>T (p.Val1606=)
dbSNP
Xg.32365098C>GCA515714787DMDc.4947G>C (p.Val1649=)
c.915G>C (p.Val305=)
c.4935G>C (p.Val1645=)
c.195G>C (p.Val65=)
c.94-388G>C (n.94-388G>C)
n.336-148035G>C
c.4923G>C (p.Val1641=)
c.4578G>C (p.Val1526=)
c.924G>C (p.Val308=)
c.4818G>C (p.Val1606=)
Xg.32365098C>TCA515714786DMDc.4947G>A (p.Val1649=)
c.915G>A (p.Val305=)
c.4935G>A (p.Val1645=)
c.195G>A (p.Val65=)
c.94-388G>A (n.94-388G>A)
n.336-148035G>A
c.4923G>A (p.Val1641=)
c.4578G>A (p.Val1526=)
c.924G>A (p.Val308=)
c.4818G>A (p.Val1606=)
ClinVar dbSNP
Xg.32365099A>CCA412672055DMDc.4946T>G (p.Val1649Gly)
c.914T>G (p.Val305Gly)
c.4934T>G (p.Val1645Gly)
c.194T>G (p.Val65Gly)
c.94-389T>G (n.94-389T>G)
n.336-148036T>G
c.4922T>G (p.Val1641Gly)
c.4577T>G (p.Val1526Gly)
c.923T>G (p.Val308Gly)
c.4817T>G (p.Val1606Gly)
Xg.32365099A>GCA412672056DMDc.4946T>C (p.Val1649Ala)
c.914T>C (p.Val305Ala)
c.4934T>C (p.Val1645Ala)
c.194T>C (p.Val65Ala)
c.94-389T>C (n.94-389T>C)
n.336-148036T>C
c.4922T>C (p.Val1641Ala)
c.4577T>C (p.Val1526Ala)
c.923T>C (p.Val308Ala)
c.4817T>C (p.Val1606Ala)
Xg.32365099A>TCA412672058DMDc.4946T>A (p.Val1649Glu)
c.914T>A (p.Val305Glu)
c.4934T>A (p.Val1645Glu)
c.194T>A (p.Val65Glu)
c.94-389T>A (n.94-389T>A)
n.336-148036T>A
c.4922T>A (p.Val1641Glu)
c.4577T>A (p.Val1526Glu)
c.923T>A (p.Val308Glu)
c.4817T>A (p.Val1606Glu)
Xg.32365100C>ACA412672060DMDc.4945G>T (p.Val1649Leu)
c.913G>T (p.Val305Leu)
c.4933G>T (p.Val1645Leu)
c.193G>T (p.Val65Leu)
c.94-390G>T (n.94-390G>T)
n.336-148037G>T
c.4921G>T (p.Val1641Leu)
c.4576G>T (p.Val1526Leu)
c.922G>T (p.Val308Leu)
c.4816G>T (p.Val1606Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32365100C=CA2422770123DMDc.4945G= (p.Val1649=)
c.913G= (p.Val305=)
c.4933G= (p.Val1645=)
c.193G= (p.Val65=)
c.94-390G= (n.94-390G=)
n.336-148037G=
c.4921G= (p.Val1641=)
c.4576G= (p.Val1526=)
c.922G= (p.Val308=)
c.4816G= (p.Val1606=)
Xg.32365100C>GCA412672062DMDc.4945G>C (p.Val1649Leu)
c.913G>C (p.Val305Leu)
c.4933G>C (p.Val1645Leu)
c.193G>C (p.Val65Leu)
c.94-390G>C (n.94-390G>C)
n.336-148037G>C
c.4921G>C (p.Val1641Leu)
c.4576G>C (p.Val1526Leu)
c.922G>C (p.Val308Leu)
c.4816G>C (p.Val1606Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365100C>TCA412672064DMDc.4945G>A (p.Val1649Met)
c.913G>A (p.Val305Met)
c.4933G>A (p.Val1645Met)
c.193G>A (p.Val65Met)
c.94-390G>A (n.94-390G>A)
n.336-148037G>A
c.4921G>A (p.Val1641Met)
c.4576G>A (p.Val1526Met)
c.922G>A (p.Val308Met)
c.4816G>A (p.Val1606Met)
dbSNP gnomAD v2 gnomAD v4
Xg.32365101C>ACA412672067DMDc.4944G>T (p.Leu1648Phe)
c.912G>T (p.Leu304Phe)
c.4932G>T (p.Leu1644Phe)
c.192G>T (p.Leu64Phe)
c.94-391G>T (n.94-391G>T)
n.336-148038G>T
c.4920G>T (p.Leu1640Phe)
c.4575G>T (p.Leu1525Phe)
c.921G>T (p.Leu307Phe)
c.4815G>T (p.Leu1605Phe)
Xg.32365101C>GCA412672065DMDc.4944G>C (p.Leu1648Phe)
c.912G>C (p.Leu304Phe)
c.4932G>C (p.Leu1644Phe)
c.192G>C (p.Leu64Phe)
c.94-391G>C (n.94-391G>C)
n.336-148038G>C
c.4920G>C (p.Leu1640Phe)
c.4575G>C (p.Leu1525Phe)
c.921G>C (p.Leu307Phe)
c.4815G>C (p.Leu1605Phe)
Xg.32365101C>TCA515714788DMDc.4944G>A (p.Leu1648=)
c.912G>A (p.Leu304=)
c.4932G>A (p.Leu1644=)
c.192G>A (p.Leu64=)
c.94-391G>A (n.94-391G>A)
n.336-148038G>A
c.4920G>A (p.Leu1640=)
c.4575G>A (p.Leu1525=)
c.921G>A (p.Leu307=)
c.4815G>A (p.Leu1605=)
Xg.32365102A>CCA412672069DMDc.4943T>G (p.Leu1648Trp)
c.911T>G (p.Leu304Trp)
c.4931T>G (p.Leu1644Trp)
c.191T>G (p.Leu64Trp)
c.94-392T>G (n.94-392T>G)
n.336-148039T>G
c.4919T>G (p.Leu1640Trp)
c.4574T>G (p.Leu1525Trp)
c.920T>G (p.Leu307Trp)
c.4814T>G (p.Leu1605Trp)
Xg.32365102A>GCA412672071DMDc.4943T>C (p.Leu1648Ser)
c.911T>C (p.Leu304Ser)
c.4931T>C (p.Leu1644Ser)
c.191T>C (p.Leu64Ser)
c.94-392T>C (n.94-392T>C)
n.336-148039T>C
c.4919T>C (p.Leu1640Ser)
c.4574T>C (p.Leu1525Ser)
c.920T>C (p.Leu307Ser)
c.4814T>C (p.Leu1605Ser)
Xg.32365102A>TCA412672073DMDc.4943T>A (p.Leu1648Ter)
c.911T>A (p.Leu304Ter)
c.4931T>A (p.Leu1644Ter)
c.191T>A (p.Leu64Ter)
c.94-392T>A (n.94-392T>A)
n.336-148039T>A
c.4919T>A (p.Leu1640Ter)
c.4574T>A (p.Leu1525Ter)
c.920T>A (p.Leu307Ter)
c.4814T>A (p.Leu1605Ter)
ClinVar
Xg.32365103A=CA2422770124DMDc.4942T= (p.Leu1648=)
c.910T= (p.Leu304=)
c.4930T= (p.Leu1644=)
c.190T= (p.Leu64=)
c.94-393T= (n.94-393T=)
n.336-148040T=
c.4918T= (p.Leu1640=)
c.4573T= (p.Leu1525=)
c.919T= (p.Leu307=)
c.4813T= (p.Leu1605=)
Xg.32365103A>CCA10378816DMDc.4942T>G (p.Leu1648Val)
c.910T>G (p.Leu304Val)
c.4930T>G (p.Leu1644Val)
c.190T>G (p.Leu64Val)
c.94-393T>G (n.94-393T>G)
n.336-148040T>G
c.4918T>G (p.Leu1640Val)
c.4573T>G (p.Leu1525Val)
c.919T>G (p.Leu307Val)
c.4813T>G (p.Leu1605Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365103A>GCA10378817DMDc.4942T>C (p.Leu1648=)
c.910T>C (p.Leu304=)
c.4930T>C (p.Leu1644=)
c.190T>C (p.Leu64=)
c.94-393T>C (n.94-393T>C)
n.336-148040T>C
c.4918T>C (p.Leu1640=)
c.4573T>C (p.Leu1525=)
c.919T>C (p.Leu307=)
c.4813T>C (p.Leu1605=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365103A>TCA412672075DMDc.4942T>A (p.Leu1648Met)
c.910T>A (p.Leu304Met)
c.4930T>A (p.Leu1644Met)
c.190T>A (p.Leu64Met)
c.94-393T>A (n.94-393T>A)
n.336-148040T>A
c.4918T>A (p.Leu1640Met)
c.4573T>A (p.Leu1525Met)
c.919T>A (p.Leu307Met)
c.4813T>A (p.Leu1605Met)
gnomAD v4
Xg.32365104C>ACA515714789DMDc.4941G>T (p.Thr1647=)
c.909G>T (p.Thr303=)
c.4929G>T (p.Thr1643=)
c.189G>T (p.Thr63=)
c.94-394G>T (n.94-394G>T)
n.336-148041G>T
c.4917G>T (p.Thr1639=)
c.4572G>T (p.Thr1524=)
c.918G>T (p.Thr306=)
c.4812G>T (p.Thr1604=)
COSMIC COSMIC COSMIC COSMIC
Xg.32365104C=CA2422770125DMDc.4941G= (p.Thr1647=)
c.909G= (p.Thr303=)
c.4929G= (p.Thr1643=)
c.189G= (p.Thr63=)
c.94-394G= (n.94-394G=)
n.336-148041G=
c.4917G= (p.Thr1639=)
c.4572G= (p.Thr1524=)
c.918G= (p.Thr306=)
c.4812G= (p.Thr1604=)
Xg.32365104C>GCA515714790DMDc.4941G>C (p.Thr1647=)
c.909G>C (p.Thr303=)
c.4929G>C (p.Thr1643=)
c.189G>C (p.Thr63=)
c.94-394G>C (n.94-394G>C)
n.336-148041G>C
c.4917G>C (p.Thr1639=)
c.4572G>C (p.Thr1524=)
c.918G>C (p.Thr306=)
c.4812G>C (p.Thr1604=)
Xg.32365104C>TCA10378818DMDc.4941G>A (p.Thr1647=)
c.909G>A (p.Thr303=)
c.4929G>A (p.Thr1643=)
c.189G>A (p.Thr63=)
c.94-394G>A (n.94-394G>A)
n.336-148041G>A
c.4917G>A (p.Thr1639=)
c.4572G>A (p.Thr1524=)
c.918G>A (p.Thr306=)
c.4812G>A (p.Thr1604=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32365105G>ACA10378819DMDc.4940C>T (p.Thr1647Met)
c.908C>T (p.Thr303Met)
c.4928C>T (p.Thr1643Met)
c.188C>T (p.Thr63Met)
c.94-395C>T (n.94-395C>T)
n.336-148042C>T
c.4916C>T (p.Thr1639Met)
c.4571C>T (p.Thr1524Met)
c.917C>T (p.Thr306Met)
c.4811C>T (p.Thr1604Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.32365105G>CCA412672079DMDc.4940C>G (p.Thr1647Arg)
c.908C>G (p.Thr303Arg)
c.4928C>G (p.Thr1643Arg)
c.188C>G (p.Thr63Arg)
c.94-395C>G (n.94-395C>G)
n.336-148042C>G
c.4916C>G (p.Thr1639Arg)
c.4571C>G (p.Thr1524Arg)
c.917C>G (p.Thr306Arg)
c.4811C>G (p.Thr1604Arg)
Xg.32365105G=CA2422770126DMDc.4940C= (p.Thr1647=)
c.908C= (p.Thr303=)
c.4928C= (p.Thr1643=)
c.188C= (p.Thr63=)
c.94-395C= (n.94-395C=)
n.336-148042C=
c.4916C= (p.Thr1639=)
c.4571C= (p.Thr1524=)
c.917C= (p.Thr306=)
c.4811C= (p.Thr1604=)
Xg.32365105G>TCA412672081DMDc.4940C>A (p.Thr1647Lys)
c.908C>A (p.Thr303Lys)
c.4928C>A (p.Thr1643Lys)
c.188C>A (p.Thr63Lys)
c.94-395C>A (n.94-395C>A)
n.336-148042C>A
c.4916C>A (p.Thr1639Lys)
c.4571C>A (p.Thr1524Lys)
c.917C>A (p.Thr306Lys)
c.4811C>A (p.Thr1604Lys)
Xg.32365106T>ACA412672084DMDc.4939A>T (p.Thr1647Ser)
c.907A>T (p.Thr303Ser)
c.4927A>T (p.Thr1643Ser)
c.187A>T (p.Thr63Ser)
c.94-396A>T (n.94-396A>T)
n.336-148043A>T
c.4915A>T (p.Thr1639Ser)
c.4570A>T (p.Thr1524Ser)
c.916A>T (p.Thr306Ser)
c.4810A>T (p.Thr1604Ser)
Xg.32365106T>CCA412672086DMDc.4939A>G (p.Thr1647Ala)
c.907A>G (p.Thr303Ala)
c.4927A>G (p.Thr1643Ala)
c.187A>G (p.Thr63Ala)
c.94-396A>G (n.94-396A>G)
n.336-148043A>G
c.4915A>G (p.Thr1639Ala)
c.4570A>G (p.Thr1524Ala)
c.916A>G (p.Thr306Ala)
c.4810A>G (p.Thr1604Ala)
Xg.32365106T>GCA412672088DMDc.4939A>C (p.Thr1647Pro)
c.907A>C (p.Thr303Pro)
c.4927A>C (p.Thr1643Pro)
c.187A>C (p.Thr63Pro)
c.94-396A>C (n.94-396A>C)
n.336-148043A>C
c.4915A>C (p.Thr1639Pro)
c.4570A>C (p.Thr1524Pro)
c.916A>C (p.Thr306Pro)
c.4810A>C (p.Thr1604Pro)
Xg.32365107C>ACA412672091DMDc.4938G>T (p.Glu1646Asp)
c.906G>T (p.Glu302Asp)
c.4926G>T (p.Glu1642Asp)
c.186G>T (p.Glu62Asp)
c.94-397G>T (n.94-397G>T)
n.336-148044G>T
c.4914G>T (p.Glu1638Asp)
c.4569G>T (p.Glu1523Asp)
c.915G>T (p.Glu305Asp)
c.4809G>T (p.Glu1603Asp)
Xg.32365107C>GCA412672093DMDc.4938G>C (p.Glu1646Asp)
c.906G>C (p.Glu302Asp)
c.4926G>C (p.Glu1642Asp)
c.186G>C (p.Glu62Asp)
c.94-397G>C (n.94-397G>C)
n.336-148044G>C
c.4914G>C (p.Glu1638Asp)
c.4569G>C (p.Glu1523Asp)
c.915G>C (p.Glu305Asp)
c.4809G>C (p.Glu1603Asp)
Xg.32365107C>TCA515714791DMDc.4938G>A (p.Glu1646=)
c.906G>A (p.Glu302=)
c.4926G>A (p.Glu1642=)
c.186G>A (p.Glu62=)
c.94-397G>A (n.94-397G>A)
n.336-148044G>A
c.4914G>A (p.Glu1638=)
c.4569G>A (p.Glu1523=)
c.915G>A (p.Glu305=)
c.4809G>A (p.Glu1603=)
Xg.32365107_32365111delinsCTCCTCA2422770127DMDc.4934_4938delinsAGGAG (p.Lys1645=)
c.902_906delinsAGGAG (p.Lys301=)
c.4922_4926delinsAGGAG (p.Lys1641=)
c.182_186delinsAGGAG (p.Lys61=)
c.94-401_94-397delinsAGGAG (n.94-401_94-397delinsAGGAG)
n.336-148048_336-148044delinsAGGAG
c.4910_4914delinsAGGAG (p.Lys1637=)
c.4565_4569delinsAGGAG (p.Lys1522=)
c.911_915delinsAGGAG (p.Lys304=)
c.4805_4809delinsAGGAG (p.Lys1602=)
Xg.32365108delCA2695234113DMDc.4937del (p.Glu1646GlyfsTer11)
c.905del (p.Glu302GlyfsTer11)
c.4925del (p.Glu1642GlyfsTer11)
c.185del (p.Glu62GlyfsTer11)
c.94-398del (n.94-398del)
n.336-148045del
c.4913del (p.Glu1638GlyfsTer11)
c.4568del (p.Glu1523GlyfsTer11)
c.914del (p.Glu305GlyfsTer11)
c.4808del (p.Glu1603GlyfsTer11)
Xg.32365108T>ACA412672094DMDc.4937A>T (p.Glu1646Val)
c.905A>T (p.Glu302Val)
c.4925A>T (p.Glu1642Val)
c.185A>T (p.Glu62Val)
c.94-398A>T (n.94-398A>T)
n.336-148045A>T
c.4913A>T (p.Glu1638Val)
c.4568A>T (p.Glu1523Val)
c.914A>T (p.Glu305Val)
c.4808A>T (p.Glu1603Val)
Xg.32365108T>CCA412672098DMDc.4937A>G (p.Glu1646Gly)
c.905A>G (p.Glu302Gly)
c.4925A>G (p.Glu1642Gly)
c.185A>G (p.Glu62Gly)
c.94-398A>G (n.94-398A>G)
n.336-148045A>G
c.4913A>G (p.Glu1638Gly)
c.4568A>G (p.Glu1523Gly)
c.914A>G (p.Glu305Gly)
c.4808A>G (p.Glu1603Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365108T>GCA412672096DMDc.4937A>C (p.Glu1646Ala)
c.905A>C (p.Glu302Ala)
c.4925A>C (p.Glu1642Ala)
c.185A>C (p.Glu62Ala)
c.94-398A>C (n.94-398A>C)
n.336-148045A>C
c.4913A>C (p.Glu1638Ala)
c.4568A>C (p.Glu1523Ala)
c.914A>C (p.Glu305Ala)
c.4808A>C (p.Glu1603Ala)
Xg.32365108T=CA2422770128DMDc.4937A= (p.Glu1646=)
c.905A= (p.Glu302=)
c.4925A= (p.Glu1642=)
c.185A= (p.Glu62=)
c.94-398A= (n.94-398A=)
n.336-148045A=
c.4913A= (p.Glu1638=)
c.4568A= (p.Glu1523=)
c.914A= (p.Glu305=)
c.4808A= (p.Glu1603=)
Xg.32365110_32365113delCA16616671DMDc.4934_4937del (p.Lys1645ArgfsTer11)
c.902_905del (p.Lys301ArgfsTer11)
c.4922_4925del (p.Lys1641ArgfsTer11)
c.182_185del (p.Lys61ArgfsTer11)
c.94-401_94-398del (n.94-401_94-398del)
n.336-148048_336-148045del
c.4910_4913del (p.Lys1637ArgfsTer11)
c.4565_4568del (p.Lys1522ArgfsTer11)
c.911_914del (p.Lys304ArgfsTer11)
c.4805_4808del (p.Lys1602ArgfsTer11)
ClinVar dbSNP
Xg.32365109C>ACA412672100DMDc.4936G>T (p.Glu1646Ter)
c.904G>T (p.Glu302Ter)
c.4924G>T (p.Glu1642Ter)
c.184G>T (p.Glu62Ter)
c.94-399G>T (n.94-399G>T)
n.336-148046G>T
c.4912G>T (p.Glu1638Ter)
c.4567G>T (p.Glu1523Ter)
c.913G>T (p.Glu305Ter)
c.4807G>T (p.Glu1603Ter)
Xg.32365109C>GCA412672102DMDc.4936G>C (p.Glu1646Gln)
c.904G>C (p.Glu302Gln)
c.4924G>C (p.Glu1642Gln)
c.184G>C (p.Glu62Gln)
c.94-399G>C (n.94-399G>C)
n.336-148046G>C
c.4912G>C (p.Glu1638Gln)
c.4567G>C (p.Glu1523Gln)
c.913G>C (p.Glu305Gln)
c.4807G>C (p.Glu1603Gln)
Xg.32365109C>TCA412672104DMDc.4936G>A (p.Glu1646Lys)
c.904G>A (p.Glu302Lys)
c.4924G>A (p.Glu1642Lys)
c.184G>A (p.Glu62Lys)
c.94-399G>A (n.94-399G>A)
n.336-148046G>A
c.4912G>A (p.Glu1638Lys)
c.4567G>A (p.Glu1523Lys)
c.913G>A (p.Glu305Lys)
c.4807G>A (p.Glu1603Lys)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32365109_32365112delinsCCTTCA2422770129DMDc.4933_4936delinsAAGG (p.Lys1645=)
c.901_904delinsAAGG (p.Lys301=)
c.4921_4924delinsAAGG (p.Lys1641=)
c.181_184delinsAAGG (p.Lys61=)
c.94-402_94-399delinsAAGG (n.94-402_94-399delinsAAGG)
n.336-148049_336-148046delinsAAGG
c.4909_4912delinsAAGG (p.Lys1637=)
c.4564_4567delinsAAGG (p.Lys1522=)
c.910_913delinsAAGG (p.Lys304=)
c.4804_4807delinsAAGG (p.Lys1602=)
Xg.32365110C>ACA412672107DMDc.4935G>T (p.Lys1645Asn)
c.903G>T (p.Lys301Asn)
c.4923G>T (p.Lys1641Asn)
c.183G>T (p.Lys61Asn)
c.94-400G>T (n.94-400G>T)
n.336-148047G>T
c.4911G>T (p.Lys1637Asn)
c.4566G>T (p.Lys1522Asn)
c.912G>T (p.Lys304Asn)
c.4806G>T (p.Lys1602Asn)
Xg.32365110C>GCA412672109DMDc.4935G>C (p.Lys1645Asn)
c.903G>C (p.Lys301Asn)
c.4923G>C (p.Lys1641Asn)
c.183G>C (p.Lys61Asn)
c.94-400G>C (n.94-400G>C)
n.336-148047G>C
c.4911G>C (p.Lys1637Asn)
c.4566G>C (p.Lys1522Asn)
c.912G>C (p.Lys304Asn)
c.4806G>C (p.Lys1602Asn)
Xg.32365110C>TCA515714792DMDc.4935G>A (p.Lys1645=)
c.903G>A (p.Lys301=)
c.4923G>A (p.Lys1641=)
c.183G>A (p.Lys61=)
c.94-400G>A (n.94-400G>A)
n.336-148047G>A
c.4911G>A (p.Lys1637=)
c.4566G>A (p.Lys1522=)
c.912G>A (p.Lys304=)
c.4806G>A (p.Lys1602=)
Xg.32365113_32365115delCA412672110DMDc.4933_4935del (p.Lys1645del)
c.901_903del (p.Lys301del)
c.4921_4923del (p.Lys1641del)
c.181_183del (p.Lys61del)
c.94-402_94-400del (n.94-402_94-400del)
n.336-148049_336-148047del
c.4909_4911del (p.Lys1637del)
c.4564_4566del (p.Lys1522del)
c.910_912del (p.Lys304del)
c.4804_4806del (p.Lys1602del)
dbSNP gnomAD v4
Xg.32365111T>ACA10378820DMDc.4934A>T (p.Lys1645Met)
c.902A>T (p.Lys301Met)
c.4922A>T (p.Lys1641Met)
c.182A>T (p.Lys61Met)
c.94-401A>T (n.94-401A>T)
n.336-148048A>T
c.4910A>T (p.Lys1637Met)
c.4565A>T (p.Lys1522Met)
c.911A>T (p.Lys304Met)
c.4805A>T (p.Lys1602Met)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32365111T>CCA412672113DMDc.4934A>G (p.Lys1645Arg)
c.902A>G (p.Lys301Arg)
c.4922A>G (p.Lys1641Arg)
c.182A>G (p.Lys61Arg)
c.94-401A>G (n.94-401A>G)
n.336-148048A>G
c.4910A>G (p.Lys1637Arg)
c.4565A>G (p.Lys1522Arg)
c.911A>G (p.Lys304Arg)
c.4805A>G (p.Lys1602Arg)
Xg.32365111T>GCA412672115DMDc.4934A>C (p.Lys1645Thr)
c.902A>C (p.Lys301Thr)
c.4922A>C (p.Lys1641Thr)
c.182A>C (p.Lys61Thr)
c.94-401A>C (n.94-401A>C)
n.336-148048A>C
c.4910A>C (p.Lys1637Thr)
c.4565A>C (p.Lys1522Thr)
c.911A>C (p.Lys304Thr)
c.4805A>C (p.Lys1602Thr)
Xg.32365111T=CA2422770130DMDc.4934A= (p.Lys1645=)
c.902A= (p.Lys301=)
c.4922A= (p.Lys1641=)
c.182A= (p.Lys61=)
c.94-401A= (n.94-401A=)
n.336-148048A=
c.4910A= (p.Lys1637=)
c.4565A= (p.Lys1522=)
c.911A= (p.Lys304=)
c.4805A= (p.Lys1602=)
Xg.32365112T>ACA412672117DMDc.4933A>T (p.Lys1645Ter)
c.901A>T (p.Lys301Ter)
c.4921A>T (p.Lys1641Ter)
c.181A>T (p.Lys61Ter)
c.94-402A>T (n.94-402A>T)
n.336-148049A>T
c.4909A>T (p.Lys1637Ter)
c.4564A>T (p.Lys1522Ter)
c.910A>T (p.Lys304Ter)
c.4804A>T (p.Lys1602Ter)
dbSNP
Xg.32365112T>CCA412672119DMDc.4933A>G (p.Lys1645Glu)
c.901A>G (p.Lys301Glu)
c.4921A>G (p.Lys1641Glu)
c.181A>G (p.Lys61Glu)
c.94-402A>G (n.94-402A>G)
n.336-148049A>G
c.4909A>G (p.Lys1637Glu)
c.4564A>G (p.Lys1522Glu)
c.910A>G (p.Lys304Glu)
c.4804A>G (p.Lys1602Glu)
Xg.32365112T>GCA412672120DMDc.4933A>C (p.Lys1645Gln)
c.901A>C (p.Lys301Gln)
c.4921A>C (p.Lys1641Gln)
c.181A>C (p.Lys61Gln)
c.94-402A>C (n.94-402A>C)
n.336-148049A>C
c.4909A>C (p.Lys1637Gln)
c.4564A>C (p.Lys1522Gln)
c.910A>C (p.Lys304Gln)
c.4804A>C (p.Lys1602Gln)
Xg.32365113C>ACA412672127DMDc.4932G>T (p.Lys1644Asn)
c.900G>T (p.Lys300Asn)
c.4920G>T (p.Lys1640Asn)
c.180G>T (p.Lys60Asn)
c.94-403G>T (n.94-403G>T)
n.336-148050G>T
c.4908G>T (p.Lys1636Asn)
c.4563G>T (p.Lys1521Asn)
c.909G>T (p.Lys303Asn)
c.4803G>T (p.Lys1601Asn)
Xg.32365113C>GCA412672125DMDc.4932G>C (p.Lys1644Asn)
c.900G>C (p.Lys300Asn)
c.4920G>C (p.Lys1640Asn)
c.180G>C (p.Lys60Asn)
c.94-403G>C (n.94-403G>C)
n.336-148050G>C
c.4908G>C (p.Lys1636Asn)
c.4563G>C (p.Lys1521Asn)
c.909G>C (p.Lys303Asn)
c.4803G>C (p.Lys1601Asn)
Xg.32365113C>TCA515714793DMDc.4932G>A (p.Lys1644=)
c.900G>A (p.Lys300=)
c.4920G>A (p.Lys1640=)
c.180G>A (p.Lys60=)
c.94-403G>A (n.94-403G>A)
n.336-148050G>A
c.4908G>A (p.Lys1636=)
c.4563G>A (p.Lys1521=)
c.909G>A (p.Lys303=)
c.4803G>A (p.Lys1601=)
Xg.32365114T>ACA412672129DMDc.4931A>T (p.Lys1644Met)
c.899A>T (p.Lys300Met)
c.4919A>T (p.Lys1640Met)
c.179A>T (p.Lys60Met)
c.94-404A>T (n.94-404A>T)
n.336-148051A>T
c.4907A>T (p.Lys1636Met)
c.4562A>T (p.Lys1521Met)
c.908A>T (p.Lys303Met)
c.4802A>T (p.Lys1601Met)
Xg.32365114T>CCA412672132DMDc.4931A>G (p.Lys1644Arg)
c.899A>G (p.Lys300Arg)
c.4919A>G (p.Lys1640Arg)
c.179A>G (p.Lys60Arg)
c.94-404A>G (n.94-404A>G)
n.336-148051A>G
c.4907A>G (p.Lys1636Arg)
c.4562A>G (p.Lys1521Arg)
c.908A>G (p.Lys303Arg)
c.4802A>G (p.Lys1601Arg)
Xg.32365114T>GCA412672130DMDc.4931A>C (p.Lys1644Thr)
c.899A>C (p.Lys300Thr)
c.4919A>C (p.Lys1640Thr)
c.179A>C (p.Lys60Thr)
c.94-404A>C (n.94-404A>C)
n.336-148051A>C
c.4907A>C (p.Lys1636Thr)
c.4562A>C (p.Lys1521Thr)
c.908A>C (p.Lys303Thr)
c.4802A>C (p.Lys1601Thr)
Xg.32365115T>ACA412672135DMDc.4930A>T (p.Lys1644Ter)
c.898A>T (p.Lys300Ter)
c.4918A>T (p.Lys1640Ter)
c.178A>T (p.Lys60Ter)
c.94-405A>T (n.94-405A>T)
n.336-148052A>T
c.4906A>T (p.Lys1636Ter)
c.4561A>T (p.Lys1521Ter)
c.907A>T (p.Lys303Ter)
c.4801A>T (p.Lys1601Ter)
Xg.32365115T>CCA412672138DMDc.4930A>G (p.Lys1644Glu)
c.898A>G (p.Lys300Glu)
c.4918A>G (p.Lys1640Glu)
c.178A>G (p.Lys60Glu)
c.94-405A>G (n.94-405A>G)
n.336-148052A>G
c.4906A>G (p.Lys1636Glu)
c.4561A>G (p.Lys1521Glu)
c.907A>G (p.Lys303Glu)
c.4801A>G (p.Lys1601Glu)
Xg.32365115T>GCA412672136DMDc.4930A>C (p.Lys1644Gln)
c.898A>C (p.Lys300Gln)
c.4918A>C (p.Lys1640Gln)
c.178A>C (p.Lys60Gln)
c.94-405A>C (n.94-405A>C)
n.336-148052A>C
c.4906A>C (p.Lys1636Gln)
c.4561A>C (p.Lys1521Gln)
c.907A>C (p.Lys303Gln)
c.4801A>C (p.Lys1601Gln)
ClinVar gnomAD v4
Xg.32365116G>ACA515714794DMDc.4929C>T (p.Gly1643=)
c.897C>T (p.Gly299=)
c.4917C>T (p.Gly1639=)
c.177C>T (p.Gly59=)
c.94-406C>T (n.94-406C>T)
n.336-148053C>T
c.4905C>T (p.Gly1635=)
c.4560C>T (p.Gly1520=)
c.906C>T (p.Gly302=)
c.4800C>T (p.Gly1600=)
ClinVar
Xg.32365116G>CCA10378821DMDc.4929C>G (p.Gly1643=)
c.897C>G (p.Gly299=)
c.4917C>G (p.Gly1639=)
c.177C>G (p.Gly59=)
c.94-406C>G (n.94-406C>G)
n.336-148053C>G
c.4905C>G (p.Gly1635=)
c.4560C>G (p.Gly1520=)
c.906C>G (p.Gly302=)
c.4800C>G (p.Gly1600=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365116G=CA2422770131DMDc.4929C= (p.Gly1643=)
c.897C= (p.Gly299=)
c.4917C= (p.Gly1639=)
c.177C= (p.Gly59=)
c.94-406C= (n.94-406C=)
n.336-148053C=
c.4905C= (p.Gly1635=)
c.4560C= (p.Gly1520=)
c.906C= (p.Gly302=)
c.4800C= (p.Gly1600=)
Xg.32365116G>TCA515714795DMDc.4929C>A (p.Gly1643=)
c.897C>A (p.Gly299=)
c.4917C>A (p.Gly1639=)
c.177C>A (p.Gly59=)
c.94-406C>A (n.94-406C>A)
n.336-148053C>A
c.4905C>A (p.Gly1635=)
c.4560C>A (p.Gly1520=)
c.906C>A (p.Gly302=)
c.4800C>A (p.Gly1600=)
Xg.32365117C>ACA412672143DMDc.4928G>T (p.Gly1643Val)
c.896G>T (p.Gly299Val)
c.4916G>T (p.Gly1639Val)
c.176G>T (p.Gly59Val)
c.94-407G>T (n.94-407G>T)
n.336-148054G>T
c.4904G>T (p.Gly1635Val)
c.4559G>T (p.Gly1520Val)
c.905G>T (p.Gly302Val)
c.4799G>T (p.Gly1600Val)
Xg.32365117C=CA2422770132DMDc.4928G= (p.Gly1643=)
c.896G= (p.Gly299=)
c.4916G= (p.Gly1639=)
c.176G= (p.Gly59=)
c.94-407G= (n.94-407G=)
n.336-148054G=
c.4904G= (p.Gly1635=)
c.4559G= (p.Gly1520=)
c.905G= (p.Gly302=)
c.4799G= (p.Gly1600=)
Xg.32365117C>GCA10378822DMDc.4928G>C (p.Gly1643Ala)
c.896G>C (p.Gly299Ala)
c.4916G>C (p.Gly1639Ala)
c.176G>C (p.Gly59Ala)
c.94-407G>C (n.94-407G>C)
n.336-148054G>C
c.4904G>C (p.Gly1635Ala)
c.4559G>C (p.Gly1520Ala)
c.905G>C (p.Gly302Ala)
c.4799G>C (p.Gly1600Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32365117C>TCA412672141DMDc.4928G>A (p.Gly1643Asp)
c.896G>A (p.Gly299Asp)
c.4916G>A (p.Gly1639Asp)
c.176G>A (p.Gly59Asp)
c.94-407G>A (n.94-407G>A)
n.336-148054G>A
c.4904G>A (p.Gly1635Asp)
c.4559G>A (p.Gly1520Asp)
c.905G>A (p.Gly302Asp)
c.4799G>A (p.Gly1600Asp)
Xg.32365118C>ACA10378823DMDc.4927G>T (p.Gly1643Cys)
c.895G>T (p.Gly299Cys)
c.4915G>T (p.Gly1639Cys)
c.175G>T (p.Gly59Cys)
c.94-408G>T (n.94-408G>T)
n.336-148055G>T
c.4903G>T (p.Gly1635Cys)
c.4558G>T (p.Gly1520Cys)
c.904G>T (p.Gly302Cys)
c.4798G>T (p.Gly1600Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32365118C=CA2422770133DMDc.4927G= (p.Gly1643=)
c.895G= (p.Gly299=)
c.4915G= (p.Gly1639=)
c.175G= (p.Gly59=)
c.94-408G= (n.94-408G=)
n.336-148055G=
c.4903G= (p.Gly1635=)
c.4558G= (p.Gly1520=)
c.904G= (p.Gly302=)
c.4798G= (p.Gly1600=)
Xg.32365118C>GCA412672146DMDc.4927G>C (p.Gly1643Arg)
c.895G>C (p.Gly299Arg)
c.4915G>C (p.Gly1639Arg)
c.175G>C (p.Gly59Arg)
c.94-408G>C (n.94-408G>C)
n.336-148055G>C
c.4903G>C (p.Gly1635Arg)
c.4558G>C (p.Gly1520Arg)
c.904G>C (p.Gly302Arg)
c.4798G>C (p.Gly1600Arg)
ClinVar dbSNP gnomAD v4
Xg.32365118C>TCA412672148DMDc.4927G>A (p.Gly1643Ser)
c.895G>A (p.Gly299Ser)
c.4915G>A (p.Gly1639Ser)
c.175G>A (p.Gly59Ser)
c.94-408G>A (n.94-408G>A)
n.336-148055G>A
c.4903G>A (p.Gly1635Ser)
c.4558G>A (p.Gly1520Ser)
c.904G>A (p.Gly302Ser)
c.4798G>A (p.Gly1600Ser)
gnomAD v4
Xg.32365119C>ACA412672151DMDc.4926G>T (p.Leu1642Phe)
c.894G>T (p.Leu298Phe)
c.4914G>T (p.Leu1638Phe)
c.174G>T (p.Leu58Phe)
c.94-409G>T (n.94-409G>T)
n.336-148056G>T
c.4902G>T (p.Leu1634Phe)
c.4557G>T (p.Leu1519Phe)
c.903G>T (p.Leu301Phe)
c.4797G>T (p.Leu1599Phe)
Xg.32365119C>GCA412672153DMDc.4926G>C (p.Leu1642Phe)
c.894G>C (p.Leu298Phe)
c.4914G>C (p.Leu1638Phe)
c.174G>C (p.Leu58Phe)
c.94-409G>C (n.94-409G>C)
n.336-148056G>C
c.4902G>C (p.Leu1634Phe)
c.4557G>C (p.Leu1519Phe)
c.903G>C (p.Leu301Phe)
c.4797G>C (p.Leu1599Phe)
ClinVar dbSNP
Xg.32365119C>TCA515714796DMDc.4926G>A (p.Leu1642=)
c.894G>A (p.Leu298=)
c.4914G>A (p.Leu1638=)
c.174G>A (p.Leu58=)
c.94-409G>A (n.94-409G>A)
n.336-148056G>A
c.4902G>A (p.Leu1634=)
c.4557G>A (p.Leu1519=)
c.903G>A (p.Leu301=)
c.4797G>A (p.Leu1599=)
Xg.32365120A>CCA412672155DMDc.4925T>G (p.Leu1642Trp)
c.893T>G (p.Leu298Trp)
c.4913T>G (p.Leu1638Trp)
c.173T>G (p.Leu58Trp)
c.94-410T>G (n.94-410T>G)
n.336-148057T>G
c.4901T>G (p.Leu1634Trp)
c.4556T>G (p.Leu1519Trp)
c.902T>G (p.Leu301Trp)
c.4796T>G (p.Leu1599Trp)
Xg.32365120A>GCA412672157DMDc.4925T>C (p.Leu1642Ser)
c.893T>C (p.Leu298Ser)
c.4913T>C (p.Leu1638Ser)
c.173T>C (p.Leu58Ser)
c.94-410T>C (n.94-410T>C)
n.336-148057T>C
c.4901T>C (p.Leu1634Ser)
c.4556T>C (p.Leu1519Ser)
c.902T>C (p.Leu301Ser)
c.4796T>C (p.Leu1599Ser)
Xg.32365120A>TCA412672159DMDc.4925T>A (p.Leu1642Ter)
c.893T>A (p.Leu298Ter)
c.4913T>A (p.Leu1638Ter)
c.173T>A (p.Leu58Ter)
c.94-410T>A (n.94-410T>A)
n.336-148057T>A
c.4901T>A (p.Leu1634Ter)
c.4556T>A (p.Leu1519Ter)
c.902T>A (p.Leu301Ter)
c.4796T>A (p.Leu1599Ter)
dbSNP
Xg.32365123dupCA645619990DMDc.4925dup (p.Leu1642PhefsTer11)
c.893dup (p.Leu298PhefsTer11)
c.4913dup (p.Leu1638PhefsTer11)
c.173dup (p.Leu58PhefsTer11)
c.94-410dup (n.94-410dup)
n.336-148057dup
c.4901dup (p.Leu1634PhefsTer11)
c.4556dup (p.Leu1519PhefsTer11)
c.902dup (p.Leu301PhefsTer11)
c.4796dup (p.Leu1599PhefsTer11)
COSMIC COSMIC COSMIC COSMIC
Xg.32365121A=CA2422770134DMDc.4924T= (p.Leu1642=)
c.892T= (p.Leu298=)
c.4912T= (p.Leu1638=)
c.172T= (p.Leu58=)
c.94-411T= (n.94-411T=)
n.336-148058T=
c.4900T= (p.Leu1634=)
c.4555T= (p.Leu1519=)
c.901T= (p.Leu301=)
c.4795T= (p.Leu1599=)
Xg.32365121A>CCA412672161DMDc.4924T>G (p.Leu1642Val)
c.892T>G (p.Leu298Val)
c.4912T>G (p.Leu1638Val)
c.172T>G (p.Leu58Val)
c.94-411T>G (n.94-411T>G)
n.336-148058T>G
c.4900T>G (p.Leu1634Val)
c.4555T>G (p.Leu1519Val)
c.901T>G (p.Leu301Val)
c.4795T>G (p.Leu1599Val)
Xg.32365121A>GCA10378824DMDc.4924T>C (p.Leu1642=)
c.892T>C (p.Leu298=)
c.4912T>C (p.Leu1638=)
c.172T>C (p.Leu58=)
c.94-411T>C (n.94-411T>C)
n.336-148058T>C
c.4900T>C (p.Leu1634=)
c.4555T>C (p.Leu1519=)
c.901T>C (p.Leu301=)
c.4795T>C (p.Leu1599=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32365121A>TCA412672163DMDc.4924T>A (p.Leu1642Met)
c.892T>A (p.Leu298Met)
c.4912T>A (p.Leu1638Met)
c.172T>A (p.Leu58Met)
c.94-411T>A (n.94-411T>A)
n.336-148058T>A
c.4900T>A (p.Leu1634Met)
c.4555T>A (p.Leu1519Met)
c.901T>A (p.Leu301Met)
c.4795T>A (p.Leu1599Met)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32365122A>CCA515714797DMDc.4923T>G (p.Val1641=)
c.891T>G (p.Val297=)
c.4911T>G (p.Val1637=)
c.171T>G (p.Val57=)
c.94-412T>G (n.94-412T>G)
n.336-148059T>G
c.4899T>G (p.Val1633=)
c.4554T>G (p.Val1518=)
c.900T>G (p.Val300=)
c.4794T>G (p.Val1598=)
Xg.32365122A>GCA515714798DMDc.4923T>C (p.Val1641=)
c.891T>C (p.Val297=)
c.4911T>C (p.Val1637=)
c.171T>C (p.Val57=)
c.94-412T>C (n.94-412T>C)
n.336-148059T>C
c.4899T>C (p.Val1633=)
c.4554T>C (p.Val1518=)
c.900T>C (p.Val300=)
c.4794T>C (p.Val1598=)
Xg.32365122A>TCA515714799DMDc.4923T>A (p.Val1641=)
c.891T>A (p.Val297=)
c.4911T>A (p.Val1637=)
c.171T>A (p.Val57=)
c.94-412T>A (n.94-412T>A)
n.336-148059T>A
c.4899T>A (p.Val1633=)
c.4554T>A (p.Val1518=)
c.900T>A (p.Val300=)
c.4794T>A (p.Val1598=)
Xg.32365123A>CCA412672170DMDc.4922T>G (p.Val1641Gly)
c.890T>G (p.Val297Gly)
c.4910T>G (p.Val1637Gly)
c.170T>G (p.Val57Gly)
c.94-413T>G (n.94-413T>G)
n.336-148060T>G
c.4898T>G (p.Val1633Gly)
c.4553T>G (p.Val1518Gly)
c.899T>G (p.Val300Gly)
c.4793T>G (p.Val1598Gly)
Xg.32365123A>GCA412672166DMDc.4922T>C (p.Val1641Ala)
c.890T>C (p.Val297Ala)
c.4910T>C (p.Val1637Ala)
c.170T>C (p.Val57Ala)
c.94-413T>C (n.94-413T>C)
n.336-148060T>C
c.4898T>C (p.Val1633Ala)
c.4553T>C (p.Val1518Ala)
c.899T>C (p.Val300Ala)
c.4793T>C (p.Val1598Ala)
Xg.32365123A>TCA412672167DMDc.4922T>A (p.Val1641Asp)
c.890T>A (p.Val297Asp)
c.4910T>A (p.Val1637Asp)
c.170T>A (p.Val57Asp)
c.94-413T>A (n.94-413T>A)
n.336-148060T>A
c.4898T>A (p.Val1633Asp)
c.4553T>A (p.Val1518Asp)
c.899T>A (p.Val300Asp)
c.4793T>A (p.Val1598Asp)
Xg.32365124C>ACA412672172DMDc.4921G>T (p.Val1641Phe)
c.889G>T (p.Val297Phe)
c.4909G>T (p.Val1637Phe)
c.169G>T (p.Val57Phe)
c.94-414G>T (n.94-414G>T)
n.336-148061G>T
c.4897G>T (p.Val1633Phe)
c.4552G>T (p.Val1518Phe)
c.898G>T (p.Val300Phe)
c.4792G>T (p.Val1598Phe)
Xg.32365124C>GCA412672174DMDc.4921G>C (p.Val1641Leu)
c.889G>C (p.Val297Leu)
c.4909G>C (p.Val1637Leu)
c.169G>C (p.Val57Leu)
c.94-414G>C (n.94-414G>C)
n.336-148061G>C
c.4897G>C (p.Val1633Leu)
c.4552G>C (p.Val1518Leu)
c.898G>C (p.Val300Leu)
c.4792G>C (p.Val1598Leu)
Xg.32365124C>TCA412672176DMDc.4921G>A (p.Val1641Ile)
c.889G>A (p.Val297Ile)
c.4909G>A (p.Val1637Ile)
c.169G>A (p.Val57Ile)
c.94-414G>A (n.94-414G>A)
n.336-148061G>A
c.4897G>A (p.Val1633Ile)
c.4552G>A (p.Val1518Ile)
c.898G>A (p.Val300Ile)
c.4792G>A (p.Val1598Ile)
gnomAD v4
Xg.32365125T>ACA515714800DMDc.4920A>T (p.Thr1640=)
c.888A>T (p.Thr296=)
c.4908A>T (p.Thr1636=)
c.168A>T (p.Thr56=)
c.94-415A>T (n.94-415A>T)
n.336-148062A>T
c.4896A>T (p.Thr1632=)
c.4551A>T (p.Thr1517=)
c.897A>T (p.Thr299=)
c.4791A>T (p.Thr1597=)
Xg.32365125T>CCA515714801DMDc.4920A>G (p.Thr1640=)
c.888A>G (p.Thr296=)
c.4908A>G (p.Thr1636=)
c.168A>G (p.Thr56=)
c.94-415A>G (n.94-415A>G)
n.336-148062A>G
c.4896A>G (p.Thr1632=)
c.4551A>G (p.Thr1517=)
c.897A>G (p.Thr299=)
c.4791A>G (p.Thr1597=)
gnomAD v4
Xg.32365125T>GCA515714802DMDc.4920A>C (p.Thr1640=)
c.888A>C (p.Thr296=)
c.4908A>C (p.Thr1636=)
c.168A>C (p.Thr56=)
c.94-415A>C (n.94-415A>C)
n.336-148062A>C
c.4896A>C (p.Thr1632=)
c.4551A>C (p.Thr1517=)
c.897A>C (p.Thr299=)
c.4791A>C (p.Thr1597=)
ClinVar dbSNP

Number of alleles fetched