| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32343122A= | CA2422760763 | DMD | c.585+12T= (n.585+12T=) c.5739+12T= (n.5739+12T=) c.1707+12T= (n.1707+12T=) c.5727+12T= (n.5727+12T=) n.336-126059T= c.396+12T= (n.396+12T=) c.5715+12T= (n.5715+12T=) c.5370+12T= (n.5370+12T=) c.1716+12T= (n.1716+12T=) c.5610+12T= (n.5610+12T=) c.5601+12T= (n.5601+12T=) c.5616+12T= (n.5616+12T=) | |
| X | g.32343122A>C | CA10378612 | DMD | c.585+12T>G (n.585+12T>G) c.5739+12T>G (n.5739+12T>G) c.1707+12T>G (n.1707+12T>G) c.5727+12T>G (n.5727+12T>G) n.336-126059T>G c.396+12T>G (n.396+12T>G) c.5715+12T>G (n.5715+12T>G) c.5370+12T>G (n.5370+12T>G) c.1716+12T>G (n.1716+12T>G) c.5610+12T>G (n.5610+12T>G) c.5601+12T>G (n.5601+12T>G) c.5616+12T>G (n.5616+12T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32343122_32343125delinsAAAC | CA2422760762 | DMD | c.585+9_585+12delinsGTTT (n.585+9_585+12delinsGTTT) c.5739+9_5739+12delinsGTTT (n.5739+9_5739+12delinsGTTT) c.1707+9_1707+12delinsGTTT (n.1707+9_1707+12delinsGTTT) c.5727+9_5727+12delinsGTTT (n.5727+9_5727+12delinsGTTT) n.336-126062_336-126059delinsGTTT c.396+9_396+12delinsGTTT (n.396+9_396+12delinsGTTT) c.5715+9_5715+12delinsGTTT (n.5715+9_5715+12delinsGTTT) c.5370+9_5370+12delinsGTTT (n.5370+9_5370+12delinsGTTT) c.1716+9_1716+12delinsGTTT (n.1716+9_1716+12delinsGTTT) c.5610+9_5610+12delinsGTTT (n.5610+9_5610+12delinsGTTT) c.5601+9_5601+12delinsGTTT (n.5601+9_5601+12delinsGTTT) c.5616+9_5616+12delinsGTTT (n.5616+9_5616+12delinsGTTT) | |
| X | g.32343127_32343129del | CA10378613 | DMD | c.585+9_585+11del (n.585+9_585+11del) c.5739+9_5739+11del (n.5739+9_5739+11del) c.1707+9_1707+11del (n.1707+9_1707+11del) c.5727+9_5727+11del (n.5727+9_5727+11del) n.336-126062_336-126060del c.396+9_396+11del (n.396+9_396+11del) c.5715+9_5715+11del (n.5715+9_5715+11del) c.5370+9_5370+11del (n.5370+9_5370+11del) c.1716+9_1716+11del (n.1716+9_1716+11del) c.5610+9_5610+11del (n.5610+9_5610+11del) c.5601+9_5601+11del (n.5601+9_5601+11del) c.5616+9_5616+11del (n.5616+9_5616+11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32343124A= | CA2422760764 | DMD | c.585+10T= (n.585+10T=) c.5739+10T= (n.5739+10T=) c.1707+10T= (n.1707+10T=) c.5727+10T= (n.5727+10T=) n.336-126061T= c.396+10T= (n.396+10T=) c.5715+10T= (n.5715+10T=) c.5370+10T= (n.5370+10T=) c.1716+10T= (n.1716+10T=) c.5610+10T= (n.5610+10T=) c.5601+10T= (n.5601+10T=) c.5616+10T= (n.5616+10T=) | |
| X | g.32343124A>G | CA640962841 | DMD | c.585+10T>C (n.585+10T>C) c.5739+10T>C (n.5739+10T>C) c.1707+10T>C (n.1707+10T>C) c.5727+10T>C (n.5727+10T>C) n.336-126061T>C c.396+10T>C (n.396+10T>C) c.5715+10T>C (n.5715+10T>C) c.5370+10T>C (n.5370+10T>C) c.1716+10T>C (n.1716+10T>C) c.5610+10T>C (n.5610+10T>C) c.5601+10T>C (n.5601+10T>C) c.5616+10T>C (n.5616+10T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32343125C>T | CA2693393762 | DMD | c.585+9G>A (n.585+9G>A) c.5739+9G>A (n.5739+9G>A) c.1707+9G>A (n.1707+9G>A) c.5727+9G>A (n.5727+9G>A) n.336-126062G>A c.396+9G>A (n.396+9G>A) c.5715+9G>A (n.5715+9G>A) c.5370+9G>A (n.5370+9G>A) c.1716+9G>A (n.1716+9G>A) c.5610+9G>A (n.5610+9G>A) c.5601+9G>A (n.5601+9G>A) c.5616+9G>A (n.5616+9G>A) | gnomAD v4 |
| X | g.32343126A= | CA2422760765 | DMD | c.585+8T= (n.585+8T=) c.5739+8T= (n.5739+8T=) c.1707+8T= (n.1707+8T=) c.5727+8T= (n.5727+8T=) n.336-126063T= c.396+8T= (n.396+8T=) c.5715+8T= (n.5715+8T=) c.5370+8T= (n.5370+8T=) c.1716+8T= (n.1716+8T=) c.5610+8T= (n.5610+8T=) c.5601+8T= (n.5601+8T=) c.5616+8T= (n.5616+8T=) | |
| X | g.32343126A>G | CA640962843 | DMD | c.585+8T>C (n.585+8T>C) c.5739+8T>C (n.5739+8T>C) c.1707+8T>C (n.1707+8T>C) c.5727+8T>C (n.5727+8T>C) n.336-126063T>C c.396+8T>C (n.396+8T>C) c.5715+8T>C (n.5715+8T>C) c.5370+8T>C (n.5370+8T>C) c.1716+8T>C (n.1716+8T>C) c.5610+8T>C (n.5610+8T>C) c.5601+8T>C (n.5601+8T>C) c.5616+8T>C (n.5616+8T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32343127A>G | CA2693393763 | DMD | c.585+7T>C (n.585+7T>C) c.5739+7T>C (n.5739+7T>C) c.1707+7T>C (n.1707+7T>C) c.5727+7T>C (n.5727+7T>C) n.336-126064T>C c.396+7T>C (n.396+7T>C) c.5715+7T>C (n.5715+7T>C) c.5370+7T>C (n.5370+7T>C) c.1716+7T>C (n.1716+7T>C) c.5610+7T>C (n.5610+7T>C) c.5601+7T>C (n.5601+7T>C) c.5616+7T>C (n.5616+7T>C) | gnomAD v4 |
| X | g.32343128C>T | CA2580100647 | DMD | c.585+6G>A (n.585+6G>A) c.5739+6G>A (n.5739+6G>A) c.1707+6G>A (n.1707+6G>A) c.5727+6G>A (n.5727+6G>A) n.336-126065G>A c.396+6G>A (n.396+6G>A) c.5715+6G>A (n.5715+6G>A) c.5370+6G>A (n.5370+6G>A) c.1716+6G>A (n.1716+6G>A) c.5610+6G>A (n.5610+6G>A) c.5601+6G>A (n.5601+6G>A) c.5616+6G>A (n.5616+6G>A) | ClinVar gnomAD v4 |
| X | g.32343129A>T | CA2693393764 | DMD | c.585+5T>A (n.585+5T>A) c.5739+5T>A (n.5739+5T>A) c.1707+5T>A (n.1707+5T>A) c.5727+5T>A (n.5727+5T>A) n.336-126066T>A c.396+5T>A (n.396+5T>A) c.5715+5T>A (n.5715+5T>A) c.5370+5T>A (n.5370+5T>A) c.1716+5T>A (n.1716+5T>A) c.5610+5T>A (n.5610+5T>A) c.5601+5T>A (n.5601+5T>A) c.5616+5T>A (n.5616+5T>A) | gnomAD v4 |
| X | g.32343133_32343138del | CA2573158784 | DMD | c.584_585+4del c.5738_5739+4del c.1706_1707+4del c.5726_5727+4del n.336-126072_336-126067del c.395_396+4del c.5714_5715+4del c.5369_5370+4del c.1715_1716+4del c.5609_5610+4del c.5600_5601+4del c.5615_5616+4del | ClinVar dbSNP |
| X | g.32343131T>G | CA2693393765 | DMD | c.585+3A>C (n.585+3A>C) c.5739+3A>C (n.5739+3A>C) c.1707+3A>C (n.1707+3A>C) c.5727+3A>C (n.5727+3A>C) n.336-126068A>C c.396+3A>C (n.396+3A>C) c.5715+3A>C (n.5715+3A>C) c.5370+3A>C (n.5370+3A>C) c.1716+3A>C (n.1716+3A>C) c.5610+3A>C (n.5610+3A>C) c.5601+3A>C (n.5601+3A>C) c.5616+3A>C (n.5616+3A>C) | gnomAD v4 |
| X | g.32343132A>C | CA412665492 | DMD | c.585+2T>G (n.585+2T>G) c.5739+2T>G (n.5739+2T>G) c.1707+2T>G (n.1707+2T>G) c.5727+2T>G (n.5727+2T>G) n.336-126069T>G c.396+2T>G (n.396+2T>G) c.5715+2T>G (n.5715+2T>G) c.5370+2T>G (n.5370+2T>G) c.1716+2T>G (n.1716+2T>G) c.5610+2T>G (n.5610+2T>G) c.5601+2T>G (n.5601+2T>G) c.5616+2T>G (n.5616+2T>G) | |
| X | g.32343132A>G | CA412665495 | DMD | c.585+2T>C (n.585+2T>C) c.5739+2T>C (n.5739+2T>C) c.1707+2T>C (n.1707+2T>C) c.5727+2T>C (n.5727+2T>C) n.336-126069T>C c.396+2T>C (n.396+2T>C) c.5715+2T>C (n.5715+2T>C) c.5370+2T>C (n.5370+2T>C) c.1716+2T>C (n.1716+2T>C) c.5610+2T>C (n.5610+2T>C) c.5601+2T>C (n.5601+2T>C) c.5616+2T>C (n.5616+2T>C) | |
| X | g.32343132A>T | CA412665498 | DMD | c.585+2T>A (n.585+2T>A) c.5739+2T>A (n.5739+2T>A) c.1707+2T>A (n.1707+2T>A) c.5727+2T>A (n.5727+2T>A) n.336-126069T>A c.396+2T>A (n.396+2T>A) c.5715+2T>A (n.5715+2T>A) c.5370+2T>A (n.5370+2T>A) c.1716+2T>A (n.1716+2T>A) c.5610+2T>A (n.5610+2T>A) c.5601+2T>A (n.5601+2T>A) c.5616+2T>A (n.5616+2T>A) | |
| X | g.32343133C>A | CA10605032 | DMD | c.585+1G>T (n.585+1G>T) c.5739+1G>T (n.5739+1G>T) c.1707+1G>T (n.1707+1G>T) c.5727+1G>T (n.5727+1G>T) n.336-126070G>T c.396+1G>T (n.396+1G>T) c.5715+1G>T (n.5715+1G>T) c.5370+1G>T (n.5370+1G>T) c.1716+1G>T (n.1716+1G>T) c.5610+1G>T (n.5610+1G>T) c.5601+1G>T (n.5601+1G>T) c.5616+1G>T (n.5616+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32343133C= | CA2422760766 | DMD | c.585+1G= (n.585+1G=) c.5739+1G= (n.5739+1G=) c.1707+1G= (n.1707+1G=) c.5727+1G= (n.5727+1G=) n.336-126070G= c.396+1G= (n.396+1G=) c.5715+1G= (n.5715+1G=) c.5370+1G= (n.5370+1G=) c.1716+1G= (n.1716+1G=) c.5610+1G= (n.5610+1G=) c.5601+1G= (n.5601+1G=) c.5616+1G= (n.5616+1G=) | |
| X | g.32343133C>G | CA412665503 | DMD | c.585+1G>C (n.585+1G>C) c.5739+1G>C (n.5739+1G>C) c.1707+1G>C (n.1707+1G>C) c.5727+1G>C (n.5727+1G>C) n.336-126070G>C c.396+1G>C (n.396+1G>C) c.5715+1G>C (n.5715+1G>C) c.5370+1G>C (n.5370+1G>C) c.1716+1G>C (n.1716+1G>C) c.5610+1G>C (n.5610+1G>C) c.5601+1G>C (n.5601+1G>C) c.5616+1G>C (n.5616+1G>C) | |
| X | g.32343133C>T | CA412665501 | DMD | c.585+1G>A (n.585+1G>A) c.5739+1G>A (n.5739+1G>A) c.1707+1G>A (n.1707+1G>A) c.5727+1G>A (n.5727+1G>A) n.336-126070G>A c.396+1G>A (n.396+1G>A) c.5715+1G>A (n.5715+1G>A) c.5370+1G>A (n.5370+1G>A) c.1716+1G>A (n.1716+1G>A) c.5610+1G>A (n.5610+1G>A) c.5601+1G>A (n.5601+1G>A) c.5616+1G>A (n.5616+1G>A) | |
| X | g.32343134C>A | CA412665507 | DMD | c.585G>T (p.Lys195Asn) c.5739G>T (p.Lys1913Asn) c.1707G>T (p.Lys569Asn) c.5727G>T (p.Lys1909Asn) n.336-126071G>T c.396G>T (p.Lys132Asn) c.5715G>T (p.Lys1905Asn) c.5370G>T (p.Lys1790Asn) c.1716G>T (p.Lys572Asn) c.5610G>T (p.Lys1870Asn) c.5601G>T (p.Lys1867Asn) c.5616G>T (p.Lys1872Asn) | |
| X | g.32343134C>G | CA412665509 | DMD | c.585G>C (p.Lys195Asn) c.5739G>C (p.Lys1913Asn) c.1707G>C (p.Lys569Asn) c.5727G>C (p.Lys1909Asn) n.336-126071G>C c.396G>C (p.Lys132Asn) c.5715G>C (p.Lys1905Asn) c.5370G>C (p.Lys1790Asn) c.1716G>C (p.Lys572Asn) c.5610G>C (p.Lys1870Asn) c.5601G>C (p.Lys1867Asn) c.5616G>C (p.Lys1872Asn) | |
| X | g.32343134C>T | CA515713732 | DMD | c.585G>A (p.Lys195=) c.5739G>A (p.Lys1913=) c.1707G>A (p.Lys569=) c.5727G>A (p.Lys1909=) n.336-126071G>A c.396G>A (p.Lys132=) c.5715G>A (p.Lys1905=) c.5370G>A (p.Lys1790=) c.1716G>A (p.Lys572=) c.5610G>A (p.Lys1870=) c.5601G>A (p.Lys1867=) c.5616G>A (p.Lys1872=) | |
| X | g.32343135T>A | CA412665512 | DMD | c.584A>T (p.Lys195Met) c.5738A>T (p.Lys1913Met) c.1706A>T (p.Lys569Met) c.5726A>T (p.Lys1909Met) n.336-126072A>T c.395A>T (p.Lys132Met) c.5714A>T (p.Lys1905Met) c.5369A>T (p.Lys1790Met) c.1715A>T (p.Lys572Met) c.5609A>T (p.Lys1870Met) c.5600A>T (p.Lys1867Met) c.5615A>T (p.Lys1872Met) | |
| X | g.32343135T>C | CA412665518 | DMD | c.584A>G (p.Lys195Arg) c.5738A>G (p.Lys1913Arg) c.1706A>G (p.Lys569Arg) c.5726A>G (p.Lys1909Arg) n.336-126072A>G c.395A>G (p.Lys132Arg) c.5714A>G (p.Lys1905Arg) c.5369A>G (p.Lys1790Arg) c.1715A>G (p.Lys572Arg) c.5609A>G (p.Lys1870Arg) c.5600A>G (p.Lys1867Arg) c.5615A>G (p.Lys1872Arg) | |
| X | g.32343135T>G | CA412665514 | DMD | c.584A>C (p.Lys195Thr) c.5738A>C (p.Lys1913Thr) c.1706A>C (p.Lys569Thr) c.5726A>C (p.Lys1909Thr) n.336-126072A>C c.395A>C (p.Lys132Thr) c.5714A>C (p.Lys1905Thr) c.5369A>C (p.Lys1790Thr) c.1715A>C (p.Lys572Thr) c.5609A>C (p.Lys1870Thr) c.5600A>C (p.Lys1867Thr) c.5615A>C (p.Lys1872Thr) | |
| X | g.32343136T>A | CA412665521 | DMD | c.583A>T (p.Lys195Ter) c.5737A>T (p.Lys1913Ter) c.1705A>T (p.Lys569Ter) c.5725A>T (p.Lys1909Ter) n.336-126073A>T c.394A>T (p.Lys132Ter) c.5713A>T (p.Lys1905Ter) c.5368A>T (p.Lys1790Ter) c.1714A>T (p.Lys572Ter) c.5608A>T (p.Lys1870Ter) c.5599A>T (p.Lys1867Ter) c.5614A>T (p.Lys1872Ter) | |
| X | g.32343136T>C | CA412665523 | DMD | c.583A>G (p.Lys195Glu) c.5737A>G (p.Lys1913Glu) c.1705A>G (p.Lys569Glu) c.5725A>G (p.Lys1909Glu) n.336-126073A>G c.394A>G (p.Lys132Glu) c.5713A>G (p.Lys1905Glu) c.5368A>G (p.Lys1790Glu) c.1714A>G (p.Lys572Glu) c.5608A>G (p.Lys1870Glu) c.5599A>G (p.Lys1867Glu) c.5614A>G (p.Lys1872Glu) | |
| X | g.32343136T>G | CA412665522 | DMD | c.583A>C (p.Lys195Gln) c.5737A>C (p.Lys1913Gln) c.1705A>C (p.Lys569Gln) c.5725A>C (p.Lys1909Gln) n.336-126073A>C c.394A>C (p.Lys132Gln) c.5713A>C (p.Lys1905Gln) c.5368A>C (p.Lys1790Gln) c.1714A>C (p.Lys572Gln) c.5608A>C (p.Lys1870Gln) c.5599A>C (p.Lys1867Gln) c.5614A>C (p.Lys1872Gln) | |
| X | g.32343137T>A | CA515713734 | DMD | c.582A>T (p.Ile194=) c.5736A>T (p.Ile1912=) c.1704A>T (p.Ile568=) c.5724A>T (p.Ile1908=) n.336-126074A>T c.393A>T (p.Ile131=) c.5712A>T (p.Ile1904=) c.5367A>T (p.Ile1789=) c.1713A>T (p.Ile571=) c.5607A>T (p.Ile1869=) c.5598A>T (p.Ile1866=) c.5613A>T (p.Ile1871=) | ClinVar dbSNP gnomAD v4 |
| X | g.32343137T>C | CA412665525 | DMD | c.582A>G (p.Ile194Met) c.5736A>G (p.Ile1912Met) c.1704A>G (p.Ile568Met) c.5724A>G (p.Ile1908Met) n.336-126074A>G c.393A>G (p.Ile131Met) c.5712A>G (p.Ile1904Met) c.5367A>G (p.Ile1789Met) c.1713A>G (p.Ile571Met) c.5607A>G (p.Ile1869Met) c.5598A>G (p.Ile1866Met) c.5613A>G (p.Ile1871Met) | |
| X | g.32343137T>G | CA515713733 | DMD | c.582A>C (p.Ile194=) c.5736A>C (p.Ile1912=) c.1704A>C (p.Ile568=) c.5724A>C (p.Ile1908=) n.336-126074A>C c.393A>C (p.Ile131=) c.5712A>C (p.Ile1904=) c.5367A>C (p.Ile1789=) c.1713A>C (p.Ile571=) c.5607A>C (p.Ile1869=) c.5598A>C (p.Ile1866=) c.5613A>C (p.Ile1871=) | |
| X | g.32343138A= | CA2422760767 | DMD | c.581T= (p.Ile194=) c.5735T= (p.Ile1912=) c.1703T= (p.Ile568=) c.5723T= (p.Ile1908=) n.336-126075T= c.392T= (p.Ile131=) c.5711T= (p.Ile1904=) c.5366T= (p.Ile1789=) c.1712T= (p.Ile571=) c.5606T= (p.Ile1869=) c.5597T= (p.Ile1866=) c.5612T= (p.Ile1871=) | |
| X | g.32343138A>C | CA412665532 | DMD | c.581T>G (p.Ile194Arg) c.5735T>G (p.Ile1912Arg) c.1703T>G (p.Ile568Arg) c.5723T>G (p.Ile1908Arg) n.336-126075T>G c.392T>G (p.Ile131Arg) c.5711T>G (p.Ile1904Arg) c.5366T>G (p.Ile1789Arg) c.1712T>G (p.Ile571Arg) c.5606T>G (p.Ile1869Arg) c.5597T>G (p.Ile1866Arg) c.5612T>G (p.Ile1871Arg) | |
| X | g.32343138A>G | CA10378614 | DMD | c.581T>C (p.Ile194Thr) c.5735T>C (p.Ile1912Thr) c.1703T>C (p.Ile568Thr) c.5723T>C (p.Ile1908Thr) n.336-126075T>C c.392T>C (p.Ile131Thr) c.5711T>C (p.Ile1904Thr) c.5366T>C (p.Ile1789Thr) c.1712T>C (p.Ile571Thr) c.5606T>C (p.Ile1869Thr) c.5597T>C (p.Ile1866Thr) c.5612T>C (p.Ile1871Thr) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.32343138A>T | CA412665530 | DMD | c.581T>A (p.Ile194Lys) c.5735T>A (p.Ile1912Lys) c.1703T>A (p.Ile568Lys) c.5723T>A (p.Ile1908Lys) n.336-126075T>A c.392T>A (p.Ile131Lys) c.5711T>A (p.Ile1904Lys) c.5366T>A (p.Ile1789Lys) c.1712T>A (p.Ile571Lys) c.5606T>A (p.Ile1869Lys) c.5597T>A (p.Ile1866Lys) c.5612T>A (p.Ile1871Lys) | |
| X | g.32343139T>A | CA412665534 | DMD | c.580A>T (p.Ile194Leu) c.5734A>T (p.Ile1912Leu) c.1702A>T (p.Ile568Leu) c.5722A>T (p.Ile1908Leu) n.336-126076A>T c.391A>T (p.Ile131Leu) c.5710A>T (p.Ile1904Leu) c.5365A>T (p.Ile1789Leu) c.1711A>T (p.Ile571Leu) c.5605A>T (p.Ile1869Leu) c.5596A>T (p.Ile1866Leu) c.5611A>T (p.Ile1871Leu) | |
| X | g.32343139T>C | CA412665537 | DMD | c.580A>G (p.Ile194Val) c.5734A>G (p.Ile1912Val) c.1702A>G (p.Ile568Val) c.5722A>G (p.Ile1908Val) n.336-126076A>G c.391A>G (p.Ile131Val) c.5710A>G (p.Ile1904Val) c.5365A>G (p.Ile1789Val) c.1711A>G (p.Ile571Val) c.5605A>G (p.Ile1869Val) c.5596A>G (p.Ile1866Val) c.5611A>G (p.Ile1871Val) | |
| X | g.32343139T>G | CA412665538 | DMD | c.580A>C (p.Ile194Leu) c.5734A>C (p.Ile1912Leu) c.1702A>C (p.Ile568Leu) c.5722A>C (p.Ile1908Leu) n.336-126076A>C c.391A>C (p.Ile131Leu) c.5710A>C (p.Ile1904Leu) c.5365A>C (p.Ile1789Leu) c.1711A>C (p.Ile571Leu) c.5605A>C (p.Ile1869Leu) c.5596A>C (p.Ile1866Leu) c.5611A>C (p.Ile1871Leu) | |
| X | g.32343139_32343144delinsTTTTCC | CA2422760768 | DMD | c.575_580delinsGGAAAA (p.Arg192=) c.5729_5734delinsGGAAAA (p.Arg1910=) c.1697_1702delinsGGAAAA (p.Arg566=) c.5717_5722delinsGGAAAA (p.Arg1906=) n.336-126081_336-126076delinsGGAAAA c.386_391delinsGGAAAA (p.Arg129=) c.5705_5710delinsGGAAAA (p.Arg1902=) c.5360_5365delinsGGAAAA (p.Arg1787=) c.1706_1711delinsGGAAAA (p.Arg569=) c.5600_5605delinsGGAAAA (p.Arg1867=) c.5591_5596delinsGGAAAA (p.Arg1864=) c.5606_5611delinsGGAAAA (p.Arg1869=) | |
| X | g.32343140T>A | CA412665539 | DMD | c.579A>T (p.Lys193Asn) c.5733A>T (p.Lys1911Asn) c.1701A>T (p.Lys567Asn) c.5721A>T (p.Lys1907Asn) n.336-126077A>T c.390A>T (p.Lys130Asn) c.5709A>T (p.Lys1903Asn) c.5364A>T (p.Lys1788Asn) c.1710A>T (p.Lys570Asn) c.5604A>T (p.Lys1868Asn) c.5595A>T (p.Lys1865Asn) c.5610A>T (p.Lys1870Asn) | |
| X | g.32343140T>C | CA515713735 | DMD | c.579A>G (p.Lys193=) c.5733A>G (p.Lys1911=) c.1701A>G (p.Lys567=) c.5721A>G (p.Lys1907=) n.336-126077A>G c.390A>G (p.Lys130=) c.5709A>G (p.Lys1903=) c.5364A>G (p.Lys1788=) c.1710A>G (p.Lys570=) c.5604A>G (p.Lys1868=) c.5595A>G (p.Lys1865=) c.5610A>G (p.Lys1870=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32343140T>G | CA412665540 | DMD | c.579A>C (p.Lys193Asn) c.5733A>C (p.Lys1911Asn) c.1701A>C (p.Lys567Asn) c.5721A>C (p.Lys1907Asn) n.336-126077A>C c.390A>C (p.Lys130Asn) c.5709A>C (p.Lys1903Asn) c.5364A>C (p.Lys1788Asn) c.1710A>C (p.Lys570Asn) c.5604A>C (p.Lys1868Asn) c.5595A>C (p.Lys1865Asn) c.5610A>C (p.Lys1870Asn) | |
| X | g.32343140T= | CA2422760769 | DMD | c.579A= (p.Lys193=) c.5733A= (p.Lys1911=) c.1701A= (p.Lys567=) c.5721A= (p.Lys1907=) n.336-126077A= c.390A= (p.Lys130=) c.5709A= (p.Lys1903=) c.5364A= (p.Lys1788=) c.1710A= (p.Lys570=) c.5604A= (p.Lys1868=) c.5595A= (p.Lys1865=) c.5610A= (p.Lys1870=) | |
| X | g.32343144_32343148del | CA913191127 | DMD | c.575_579del (p.Arg192AsnfsTer5) c.5729_5733del (p.Arg1910AsnfsTer5) c.1697_1701del (p.Arg566AsnfsTer5) c.5717_5721del (p.Arg1906AsnfsTer5) n.336-126081_336-126077del c.386_390del (p.Arg129AsnfsTer?) c.5705_5709del (p.Arg1902AsnfsTer5) c.5360_5364del (p.Arg1787AsnfsTer5) c.1706_1710del (p.Arg569AsnfsTer5) c.5600_5604del (p.Arg1867AsnfsTer5) c.5591_5595del (p.Arg1864AsnfsTer5) c.5606_5610del (p.Arg1869AsnfsTer5) c.5729_5733del (p.Arg1910AsnfsTer?) | ClinVar dbSNP |
| X | g.32343141T>A | CA412665544 | DMD | c.578A>T (p.Lys193Ile) c.5732A>T (p.Lys1911Ile) c.1700A>T (p.Lys567Ile) c.5720A>T (p.Lys1907Ile) n.336-126078A>T c.389A>T (p.Lys130Ile) c.5708A>T (p.Lys1903Ile) c.5363A>T (p.Lys1788Ile) c.1709A>T (p.Lys570Ile) c.5603A>T (p.Lys1868Ile) c.5594A>T (p.Lys1865Ile) c.5609A>T (p.Lys1870Ile) | |
| X | g.32343141T>C | CA412665546 | DMD | c.578A>G (p.Lys193Arg) c.5732A>G (p.Lys1911Arg) c.1700A>G (p.Lys567Arg) c.5720A>G (p.Lys1907Arg) n.336-126078A>G c.389A>G (p.Lys130Arg) c.5708A>G (p.Lys1903Arg) c.5363A>G (p.Lys1788Arg) c.1709A>G (p.Lys570Arg) c.5603A>G (p.Lys1868Arg) c.5594A>G (p.Lys1865Arg) c.5609A>G (p.Lys1870Arg) | |
| X | g.32343141T>G | CA412665548 | DMD | c.578A>C (p.Lys193Thr) c.5732A>C (p.Lys1911Thr) c.1700A>C (p.Lys567Thr) c.5720A>C (p.Lys1907Thr) n.336-126078A>C c.389A>C (p.Lys130Thr) c.5708A>C (p.Lys1903Thr) c.5363A>C (p.Lys1788Thr) c.1709A>C (p.Lys570Thr) c.5603A>C (p.Lys1868Thr) c.5594A>C (p.Lys1865Thr) c.5609A>C (p.Lys1870Thr) | |
| X | g.32343142T>A | CA412665557 | DMD | c.577A>T (p.Lys193Ter) c.5731A>T (p.Lys1911Ter) c.1699A>T (p.Lys567Ter) c.5719A>T (p.Lys1907Ter) n.336-126079A>T c.388A>T (p.Lys130Ter) c.5707A>T (p.Lys1903Ter) c.5362A>T (p.Lys1788Ter) c.1708A>T (p.Lys570Ter) c.5602A>T (p.Lys1868Ter) c.5593A>T (p.Lys1865Ter) c.5608A>T (p.Lys1870Ter) | dbSNP |