UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32310181_32310185delinsATGAG | CA2422745219 | DMD | c.860_864delinsCTCAT (p.Thr287=) c.6014_6018delinsCTCAT (p.Thr2005=) c.1982_1986delinsCTCAT (p.Thr661=) c.6002_6006delinsCTCAT (p.Thr2001=) n.336-93122_336-93118delinsCTCAT c.5990_5994delinsCTCAT (p.Thr1997=) c.5645_5649delinsCTCAT (p.Thr1882=) c.1991_1995delinsCTCAT (p.Thr664=) c.5885_5889delinsCTCAT (p.Thr1962=) c.5876_5880delinsCTCAT (p.Thr1959=) c.5891_5895delinsCTCAT (p.Thr1964=) c.188_192delinsCTCAT (p.Thr63=) | |
| X | g.32310185_32310188del | CA267093 | DMD | c.860_863del (p.Thr287MetfsTer7) c.6014_6017del (p.Thr2005MetfsTer7) c.1982_1985del (p.Thr661MetfsTer7) c.6002_6005del (p.Thr2001MetfsTer7) n.336-93122_336-93119del c.5990_5993del (p.Thr1997MetfsTer7) c.5645_5648del (p.Thr1882MetfsTer7) c.1991_1994del (p.Thr664MetfsTer7) c.5885_5888del (p.Thr1962MetfsTer7) c.5876_5879del (p.Thr1959MetfsTer7) c.5891_5894del (p.Thr1964MetfsTer7) c.188_191del (p.Thr63MetfsTer7) | ClinVar dbSNP |
| X | g.32310185G>A | CA412669828 | DMD | c.860C>T (p.Thr287Ile) c.6014C>T (p.Thr2005Ile) c.1982C>T (p.Thr661Ile) c.6002C>T (p.Thr2001Ile) n.336-93122C>T c.5990C>T (p.Thr1997Ile) c.5645C>T (p.Thr1882Ile) c.1991C>T (p.Thr664Ile) c.5885C>T (p.Thr1962Ile) c.5876C>T (p.Thr1959Ile) c.5891C>T (p.Thr1964Ile) c.188C>T (p.Thr63Ile) | |
| X | g.32310185G>C | CA10378556 | DMD | c.860C>G (p.Thr287Ser) c.6014C>G (p.Thr2005Ser) c.1982C>G (p.Thr661Ser) c.6002C>G (p.Thr2001Ser) n.336-93122C>G c.5990C>G (p.Thr1997Ser) c.5645C>G (p.Thr1882Ser) c.1991C>G (p.Thr664Ser) c.5885C>G (p.Thr1962Ser) c.5876C>G (p.Thr1959Ser) c.5891C>G (p.Thr1964Ser) c.188C>G (p.Thr63Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.32310185G= | CA2422745220 | DMD | c.860C= (p.Thr287=) c.6014C= (p.Thr2005=) c.1982C= (p.Thr661=) c.6002C= (p.Thr2001=) n.336-93122C= c.5990C= (p.Thr1997=) c.5645C= (p.Thr1882=) c.1991C= (p.Thr664=) c.5885C= (p.Thr1962=) c.5876C= (p.Thr1959=) c.5891C= (p.Thr1964=) c.188C= (p.Thr63=) | |
| X | g.32310185G>T | CA412669826 | DMD | c.860C>A (p.Thr287Asn) c.6014C>A (p.Thr2005Asn) c.1982C>A (p.Thr661Asn) c.6002C>A (p.Thr2001Asn) n.336-93122C>A c.5990C>A (p.Thr1997Asn) c.5645C>A (p.Thr1882Asn) c.1991C>A (p.Thr664Asn) c.5885C>A (p.Thr1962Asn) c.5876C>A (p.Thr1959Asn) c.5891C>A (p.Thr1964Asn) c.188C>A (p.Thr63Asn) | |
| X | g.32310186T>A | CA412669831 | DMD | c.859A>T (p.Thr287Ser) c.6013A>T (p.Thr2005Ser) c.1981A>T (p.Thr661Ser) c.6001A>T (p.Thr2001Ser) n.336-93123A>T c.5989A>T (p.Thr1997Ser) c.5644A>T (p.Thr1882Ser) c.1990A>T (p.Thr664Ser) c.5884A>T (p.Thr1962Ser) c.5875A>T (p.Thr1959Ser) c.5890A>T (p.Thr1964Ser) c.187A>T (p.Thr63Ser) | |
| X | g.32310186T>C | CA412669833 | DMD | c.859A>G (p.Thr287Ala) c.6013A>G (p.Thr2005Ala) c.1981A>G (p.Thr661Ala) c.6001A>G (p.Thr2001Ala) n.336-93123A>G c.5989A>G (p.Thr1997Ala) c.5644A>G (p.Thr1882Ala) c.1990A>G (p.Thr664Ala) c.5884A>G (p.Thr1962Ala) c.5875A>G (p.Thr1959Ala) c.5890A>G (p.Thr1964Ala) c.187A>G (p.Thr63Ala) | |
| X | g.32310186T>G | CA412669834 | DMD | c.859A>C (p.Thr287Pro) c.6013A>C (p.Thr2005Pro) c.1981A>C (p.Thr661Pro) c.6001A>C (p.Thr2001Pro) n.336-93123A>C c.5989A>C (p.Thr1997Pro) c.5644A>C (p.Thr1882Pro) c.1990A>C (p.Thr664Pro) c.5884A>C (p.Thr1962Pro) c.5875A>C (p.Thr1959Pro) c.5890A>C (p.Thr1964Pro) c.187A>C (p.Thr63Pro) | ClinVar |
| X | g.32310187G>A | CA515863246 | DMD | c.858C>T (p.Ile286=) c.6012C>T (p.Ile2004=) c.1980C>T (p.Ile660=) c.6000C>T (p.Ile2000=) n.336-93124C>T c.5988C>T (p.Ile1996=) c.5643C>T (p.Ile1881=) c.1989C>T (p.Ile663=) c.5883C>T (p.Ile1961=) c.5874C>T (p.Ile1958=) c.5889C>T (p.Ile1963=) c.186C>T (p.Ile62=) | |
| X | g.32310187G>C | CA412669836 | DMD | c.858C>G (p.Ile286Met) c.6012C>G (p.Ile2004Met) c.1980C>G (p.Ile660Met) c.6000C>G (p.Ile2000Met) n.336-93124C>G c.5988C>G (p.Ile1996Met) c.5643C>G (p.Ile1881Met) c.1989C>G (p.Ile663Met) c.5883C>G (p.Ile1961Met) c.5874C>G (p.Ile1958Met) c.5889C>G (p.Ile1963Met) c.186C>G (p.Ile62Met) | |
| X | g.32310187G>T | CA515863247 | DMD | c.858C>A (p.Ile286=) c.6012C>A (p.Ile2004=) c.1980C>A (p.Ile660=) c.6000C>A (p.Ile2000=) n.336-93124C>A c.5988C>A (p.Ile1996=) c.5643C>A (p.Ile1881=) c.1989C>A (p.Ile663=) c.5883C>A (p.Ile1961=) c.5874C>A (p.Ile1958=) c.5889C>A (p.Ile1963=) c.186C>A (p.Ile62=) | ClinVar dbSNP gnomAD v4 |
| X | g.32310188A>C | CA412669837 | DMD | c.857T>G (p.Ile286Ser) c.6011T>G (p.Ile2004Ser) c.1979T>G (p.Ile660Ser) c.5999T>G (p.Ile2000Ser) n.336-93125T>G c.5987T>G (p.Ile1996Ser) c.5642T>G (p.Ile1881Ser) c.1988T>G (p.Ile663Ser) c.5882T>G (p.Ile1961Ser) c.5873T>G (p.Ile1958Ser) c.5888T>G (p.Ile1963Ser) c.185T>G (p.Ile62Ser) | gnomAD v4 |
| X | g.32310188A>G | CA412669838 | DMD | c.857T>C (p.Ile286Thr) c.6011T>C (p.Ile2004Thr) c.1979T>C (p.Ile660Thr) c.5999T>C (p.Ile2000Thr) n.336-93125T>C c.5987T>C (p.Ile1996Thr) c.5642T>C (p.Ile1881Thr) c.1988T>C (p.Ile663Thr) c.5882T>C (p.Ile1961Thr) c.5873T>C (p.Ile1958Thr) c.5888T>C (p.Ile1963Thr) c.185T>C (p.Ile62Thr) | |
| X | g.32310188A>T | CA412669840 | DMD | c.857T>A (p.Ile286Asn) c.6011T>A (p.Ile2004Asn) c.1979T>A (p.Ile660Asn) c.5999T>A (p.Ile2000Asn) n.336-93125T>A c.5987T>A (p.Ile1996Asn) c.5642T>A (p.Ile1881Asn) c.1988T>A (p.Ile663Asn) c.5882T>A (p.Ile1961Asn) c.5873T>A (p.Ile1958Asn) c.5888T>A (p.Ile1963Asn) c.185T>A (p.Ile62Asn) | |
| X | g.32310189T>A | CA412669843 | DMD | c.856A>T (p.Ile286Phe) c.6010A>T (p.Ile2004Phe) c.1978A>T (p.Ile660Phe) c.5998A>T (p.Ile2000Phe) n.336-93126A>T c.5986A>T (p.Ile1996Phe) c.5641A>T (p.Ile1881Phe) c.1987A>T (p.Ile663Phe) c.5881A>T (p.Ile1961Phe) c.5872A>T (p.Ile1958Phe) c.5887A>T (p.Ile1963Phe) c.184A>T (p.Ile62Phe) | |
| X | g.32310189T>C | CA412669845 | DMD | c.856A>G (p.Ile286Val) c.6010A>G (p.Ile2004Val) c.1978A>G (p.Ile660Val) c.5998A>G (p.Ile2000Val) n.336-93126A>G c.5986A>G (p.Ile1996Val) c.5641A>G (p.Ile1881Val) c.1987A>G (p.Ile663Val) c.5881A>G (p.Ile1961Val) c.5872A>G (p.Ile1958Val) c.5887A>G (p.Ile1963Val) c.184A>G (p.Ile62Val) | gnomAD v4 |
| X | g.32310189T>G | CA412669847 | DMD | c.856A>C (p.Ile286Leu) c.6010A>C (p.Ile2004Leu) c.1978A>C (p.Ile660Leu) c.5998A>C (p.Ile2000Leu) n.336-93126A>C c.5986A>C (p.Ile1996Leu) c.5641A>C (p.Ile1881Leu) c.1987A>C (p.Ile663Leu) c.5881A>C (p.Ile1961Leu) c.5872A>C (p.Ile1958Leu) c.5887A>C (p.Ile1963Leu) c.184A>C (p.Ile62Leu) | |
| X | g.32310190T>A | CA412669849 | DMD | c.855A>T (p.Glu285Asp) c.6009A>T (p.Glu2003Asp) c.1977A>T (p.Glu659Asp) c.5997A>T (p.Glu1999Asp) n.336-93127A>T c.5985A>T (p.Glu1995Asp) c.5640A>T (p.Glu1880Asp) c.1986A>T (p.Glu662Asp) c.5880A>T (p.Glu1960Asp) c.5871A>T (p.Glu1957Asp) c.5886A>T (p.Glu1962Asp) c.183A>T (p.Glu61Asp) | |
| X | g.32310190T>C | CA515863248 | DMD | c.855A>G (p.Glu285=) c.6009A>G (p.Glu2003=) c.1977A>G (p.Glu659=) c.5997A>G (p.Glu1999=) n.336-93127A>G c.5985A>G (p.Glu1995=) c.5640A>G (p.Glu1880=) c.1986A>G (p.Glu662=) c.5880A>G (p.Glu1960=) c.5871A>G (p.Glu1957=) c.5886A>G (p.Glu1962=) c.183A>G (p.Glu61=) | |
| X | g.32310190T>G | CA412669851 | DMD | c.855A>C (p.Glu285Asp) c.6009A>C (p.Glu2003Asp) c.1977A>C (p.Glu659Asp) c.5997A>C (p.Glu1999Asp) n.336-93127A>C c.5985A>C (p.Glu1995Asp) c.5640A>C (p.Glu1880Asp) c.1986A>C (p.Glu662Asp) c.5880A>C (p.Glu1960Asp) c.5871A>C (p.Glu1957Asp) c.5886A>C (p.Glu1962Asp) c.183A>C (p.Glu61Asp) | |
| X | g.32310191T>A | CA412669852 | DMD | c.854A>T (p.Glu285Val) c.6008A>T (p.Glu2003Val) c.1976A>T (p.Glu659Val) c.5996A>T (p.Glu1999Val) n.336-93128A>T c.5984A>T (p.Glu1995Val) c.5639A>T (p.Glu1880Val) c.1985A>T (p.Glu662Val) c.5879A>T (p.Glu1960Val) c.5870A>T (p.Glu1957Val) c.5885A>T (p.Glu1962Val) c.182A>T (p.Glu61Val) | |
| X | g.32310191T>C | CA412669856 | DMD | c.854A>G (p.Glu285Gly) c.6008A>G (p.Glu2003Gly) c.1976A>G (p.Glu659Gly) c.5996A>G (p.Glu1999Gly) n.336-93128A>G c.5984A>G (p.Glu1995Gly) c.5639A>G (p.Glu1880Gly) c.1985A>G (p.Glu662Gly) c.5879A>G (p.Glu1960Gly) c.5870A>G (p.Glu1957Gly) c.5885A>G (p.Glu1962Gly) c.182A>G (p.Glu61Gly) | |
| X | g.32310191T>G | CA412669854 | DMD | c.854A>C (p.Glu285Ala) c.6008A>C (p.Glu2003Ala) c.1976A>C (p.Glu659Ala) c.5996A>C (p.Glu1999Ala) n.336-93128A>C c.5984A>C (p.Glu1995Ala) c.5639A>C (p.Glu1880Ala) c.1985A>C (p.Glu662Ala) c.5879A>C (p.Glu1960Ala) c.5870A>C (p.Glu1957Ala) c.5885A>C (p.Glu1962Ala) c.182A>C (p.Glu61Ala) | |
| X | g.32310192C>A | CA412669861 | DMD | c.853G>T (p.Glu285Ter) c.6007G>T (p.Glu2003Ter) c.1975G>T (p.Glu659Ter) c.5995G>T (p.Glu1999Ter) n.336-93129G>T c.5983G>T (p.Glu1995Ter) c.5638G>T (p.Glu1880Ter) c.1984G>T (p.Glu662Ter) c.5878G>T (p.Glu1960Ter) c.5869G>T (p.Glu1957Ter) c.5884G>T (p.Glu1962Ter) c.181G>T (p.Glu61Ter) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.32310192C= | CA2422745221 | DMD | c.853G= (p.Glu285=) c.6007G= (p.Glu2003=) c.1975G= (p.Glu659=) c.5995G= (p.Glu1999=) n.336-93129G= c.5983G= (p.Glu1995=) c.5638G= (p.Glu1880=) c.1984G= (p.Glu662=) c.5878G= (p.Glu1960=) c.5869G= (p.Glu1957=) c.5884G= (p.Glu1962=) c.181G= (p.Glu61=) | |
| X | g.32310192C>G | CA412669864 | DMD | c.853G>C (p.Glu285Gln) c.6007G>C (p.Glu2003Gln) c.1975G>C (p.Glu659Gln) c.5995G>C (p.Glu1999Gln) n.336-93129G>C c.5983G>C (p.Glu1995Gln) c.5638G>C (p.Glu1880Gln) c.1984G>C (p.Glu662Gln) c.5878G>C (p.Glu1960Gln) c.5869G>C (p.Glu1957Gln) c.5884G>C (p.Glu1962Gln) c.181G>C (p.Glu61Gln) | |
| X | g.32310192C>T | CA412669863 | DMD | c.853G>A (p.Glu285Lys) c.6007G>A (p.Glu2003Lys) c.1975G>A (p.Glu659Lys) c.5995G>A (p.Glu1999Lys) n.336-93129G>A c.5983G>A (p.Glu1995Lys) c.5638G>A (p.Glu1880Lys) c.1984G>A (p.Glu662Lys) c.5878G>A (p.Glu1960Lys) c.5869G>A (p.Glu1957Lys) c.5884G>A (p.Glu1962Lys) c.181G>A (p.Glu61Lys) | dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC |
| X | g.32310192_32310193del | CA2695233298 | DMD | c.852_853del (p.Glu285AsnfsTer19) c.6006_6007del (p.Glu2003AsnfsTer19) c.1974_1975del (p.Glu659AsnfsTer19) c.5994_5995del (p.Glu1999AsnfsTer19) n.336-93130_336-93129del c.5982_5983del (p.Glu1995AsnfsTer19) c.5637_5638del (p.Glu1880AsnfsTer19) c.1983_1984del (p.Glu662AsnfsTer19) c.5877_5878del (p.Glu1960AsnfsTer19) c.5868_5869del (p.Glu1957AsnfsTer19) c.5883_5884del (p.Glu1962AsnfsTer19) c.180_181del (p.Glu61AsnfsTer19) | |
| X | g.32310193A>C | CA515863250 | DMD | c.852T>G (p.Thr284=) c.6006T>G (p.Thr2002=) c.1974T>G (p.Thr658=) c.5994T>G (p.Thr1998=) n.336-93130T>G c.5982T>G (p.Thr1994=) c.5637T>G (p.Thr1879=) c.1983T>G (p.Thr661=) c.5877T>G (p.Thr1959=) c.5868T>G (p.Thr1956=) c.5883T>G (p.Thr1961=) c.180T>G (p.Thr60=) | ClinVar |
| X | g.32310193A>G | CA515863251 | DMD | c.852T>C (p.Thr284=) c.6006T>C (p.Thr2002=) c.1974T>C (p.Thr658=) c.5994T>C (p.Thr1998=) n.336-93130T>C c.5982T>C (p.Thr1994=) c.5637T>C (p.Thr1879=) c.1983T>C (p.Thr661=) c.5877T>C (p.Thr1959=) c.5868T>C (p.Thr1956=) c.5883T>C (p.Thr1961=) c.180T>C (p.Thr60=) | |
| X | g.32310193A>T | CA515863252 | DMD | c.852T>A (p.Thr284=) c.6006T>A (p.Thr2002=) c.1974T>A (p.Thr658=) c.5994T>A (p.Thr1998=) n.336-93130T>A c.5982T>A (p.Thr1994=) c.5637T>A (p.Thr1879=) c.1983T>A (p.Thr661=) c.5877T>A (p.Thr1959=) c.5868T>A (p.Thr1956=) c.5883T>A (p.Thr1961=) c.180T>A (p.Thr60=) | |
| X | g.32310194G>A | CA412669867 | DMD | c.851C>T (p.Thr284Ile) c.6005C>T (p.Thr2002Ile) c.1973C>T (p.Thr658Ile) c.5993C>T (p.Thr1998Ile) n.336-93131C>T c.5981C>T (p.Thr1994Ile) c.5636C>T (p.Thr1879Ile) c.1982C>T (p.Thr661Ile) c.5876C>T (p.Thr1959Ile) c.5867C>T (p.Thr1956Ile) c.5882C>T (p.Thr1961Ile) c.179C>T (p.Thr60Ile) | gnomAD v4 |
| X | g.32310194G>C | CA412669868 | DMD | c.851C>G (p.Thr284Ser) c.6005C>G (p.Thr2002Ser) c.1973C>G (p.Thr658Ser) c.5993C>G (p.Thr1998Ser) n.336-93131C>G c.5981C>G (p.Thr1994Ser) c.5636C>G (p.Thr1879Ser) c.1982C>G (p.Thr661Ser) c.5876C>G (p.Thr1959Ser) c.5867C>G (p.Thr1956Ser) c.5882C>G (p.Thr1961Ser) c.179C>G (p.Thr60Ser) | |
| X | g.32310194G= | CA2422745222 | DMD | c.851C= (p.Thr284=) c.6005C= (p.Thr2002=) c.1973C= (p.Thr658=) c.5993C= (p.Thr1998=) n.336-93131C= c.5981C= (p.Thr1994=) c.5636C= (p.Thr1879=) c.1982C= (p.Thr661=) c.5876C= (p.Thr1959=) c.5867C= (p.Thr1956=) c.5882C= (p.Thr1961=) c.179C= (p.Thr60=) | |
| X | g.32310194G>T | CA412669871 | DMD | c.851C>A (p.Thr284Asn) c.6005C>A (p.Thr2002Asn) c.1973C>A (p.Thr658Asn) c.5993C>A (p.Thr1998Asn) n.336-93131C>A c.5981C>A (p.Thr1994Asn) c.5636C>A (p.Thr1879Asn) c.1982C>A (p.Thr661Asn) c.5876C>A (p.Thr1959Asn) c.5867C>A (p.Thr1956Asn) c.5882C>A (p.Thr1961Asn) c.179C>A (p.Thr60Asn) | dbSNP gnomAD v4 |
| X | g.32310195T>A | CA412669873 | DMD | c.850A>T (p.Thr284Ser) c.6004A>T (p.Thr2002Ser) c.1972A>T (p.Thr658Ser) c.5992A>T (p.Thr1998Ser) n.336-93132A>T c.5980A>T (p.Thr1994Ser) c.5635A>T (p.Thr1879Ser) c.1981A>T (p.Thr661Ser) c.5875A>T (p.Thr1959Ser) c.5866A>T (p.Thr1956Ser) c.5881A>T (p.Thr1961Ser) c.178A>T (p.Thr60Ser) | gnomAD v4 |
| X | g.32310195T>C | CA412669874 | DMD | c.850A>G (p.Thr284Ala) c.6004A>G (p.Thr2002Ala) c.1972A>G (p.Thr658Ala) c.5992A>G (p.Thr1998Ala) n.336-93132A>G c.5980A>G (p.Thr1994Ala) c.5635A>G (p.Thr1879Ala) c.1981A>G (p.Thr661Ala) c.5875A>G (p.Thr1959Ala) c.5866A>G (p.Thr1956Ala) c.5881A>G (p.Thr1961Ala) c.178A>G (p.Thr60Ala) | |
| X | g.32310195T>G | CA412669877 | DMD | c.850A>C (p.Thr284Pro) c.6004A>C (p.Thr2002Pro) c.1972A>C (p.Thr658Pro) c.5992A>C (p.Thr1998Pro) n.336-93132A>C c.5980A>C (p.Thr1994Pro) c.5635A>C (p.Thr1879Pro) c.1981A>C (p.Thr661Pro) c.5875A>C (p.Thr1959Pro) c.5866A>C (p.Thr1956Pro) c.5881A>C (p.Thr1961Pro) c.178A>C (p.Thr60Pro) | |
| X | g.32310196C>A | CA412669879 | DMD | c.849G>T (p.Leu283Phe) c.6003G>T (p.Leu2001Phe) c.1971G>T (p.Leu657Phe) c.5991G>T (p.Leu1997Phe) n.336-93133G>T c.5979G>T (p.Leu1993Phe) c.5634G>T (p.Leu1878Phe) c.1980G>T (p.Leu660Phe) c.5874G>T (p.Leu1958Phe) c.5865G>T (p.Leu1955Phe) c.5880G>T (p.Leu1960Phe) c.177G>T (p.Leu59Phe) | gnomAD v4 |
| X | g.32310196C>G | CA412669884 | DMD | c.849G>C (p.Leu283Phe) c.6003G>C (p.Leu2001Phe) c.1971G>C (p.Leu657Phe) c.5991G>C (p.Leu1997Phe) n.336-93133G>C c.5979G>C (p.Leu1993Phe) c.5634G>C (p.Leu1878Phe) c.1980G>C (p.Leu660Phe) c.5874G>C (p.Leu1958Phe) c.5865G>C (p.Leu1955Phe) c.5880G>C (p.Leu1960Phe) c.177G>C (p.Leu59Phe) | |
| X | g.32310196C>T | CA515863253 | DMD | c.849G>A (p.Leu283=) c.6003G>A (p.Leu2001=) c.1971G>A (p.Leu657=) c.5991G>A (p.Leu1997=) n.336-93133G>A c.5979G>A (p.Leu1993=) c.5634G>A (p.Leu1878=) c.1980G>A (p.Leu660=) c.5874G>A (p.Leu1958=) c.5865G>A (p.Leu1955=) c.5880G>A (p.Leu1960=) c.177G>A (p.Leu59=) | gnomAD v4 |
| X | g.32310197A>C | CA412669886 | DMD | c.848T>G (p.Leu283Trp) c.6002T>G (p.Leu2001Trp) c.1970T>G (p.Leu657Trp) c.5990T>G (p.Leu1997Trp) n.336-93134T>G c.5978T>G (p.Leu1993Trp) c.5633T>G (p.Leu1878Trp) c.1979T>G (p.Leu660Trp) c.5873T>G (p.Leu1958Trp) c.5864T>G (p.Leu1955Trp) c.5879T>G (p.Leu1960Trp) c.176T>G (p.Leu59Trp) | |
| X | g.32310197A>G | CA412669888 | DMD | c.848T>C (p.Leu283Ser) c.6002T>C (p.Leu2001Ser) c.1970T>C (p.Leu657Ser) c.5990T>C (p.Leu1997Ser) n.336-93134T>C c.5978T>C (p.Leu1993Ser) c.5633T>C (p.Leu1878Ser) c.1979T>C (p.Leu660Ser) c.5873T>C (p.Leu1958Ser) c.5864T>C (p.Leu1955Ser) c.5879T>C (p.Leu1960Ser) c.176T>C (p.Leu59Ser) | |
| X | g.32310197A>T | CA412669889 | DMD | c.848T>A (p.Leu283Ter) c.6002T>A (p.Leu2001Ter) c.1970T>A (p.Leu657Ter) c.5990T>A (p.Leu1997Ter) n.336-93134T>A c.5978T>A (p.Leu1993Ter) c.5633T>A (p.Leu1878Ter) c.1979T>A (p.Leu660Ter) c.5873T>A (p.Leu1958Ter) c.5864T>A (p.Leu1955Ter) c.5879T>A (p.Leu1960Ter) c.176T>A (p.Leu59Ter) | |
| X | g.32310198A>C | CA412669891 | DMD | c.847T>G (p.Leu283Val) c.6001T>G (p.Leu2001Val) c.1969T>G (p.Leu657Val) c.5989T>G (p.Leu1997Val) n.336-93135T>G c.5977T>G (p.Leu1993Val) c.5632T>G (p.Leu1878Val) c.1978T>G (p.Leu660Val) c.5872T>G (p.Leu1958Val) c.5863T>G (p.Leu1955Val) c.5878T>G (p.Leu1960Val) c.175T>G (p.Leu59Val) | |
| X | g.32310198A>G | CA515863254 | DMD | c.847T>C (p.Leu283=) c.6001T>C (p.Leu2001=) c.1969T>C (p.Leu657=) c.5989T>C (p.Leu1997=) n.336-93135T>C c.5977T>C (p.Leu1993=) c.5632T>C (p.Leu1878=) c.1978T>C (p.Leu660=) c.5872T>C (p.Leu1958=) c.5863T>C (p.Leu1955=) c.5878T>C (p.Leu1960=) c.175T>C (p.Leu59=) | |
| X | g.32310198A>T | CA412669890 | DMD | c.847T>A (p.Leu283Met) c.6001T>A (p.Leu2001Met) c.1969T>A (p.Leu657Met) c.5989T>A (p.Leu1997Met) n.336-93135T>A c.5977T>A (p.Leu1993Met) c.5632T>A (p.Leu1878Met) c.1978T>A (p.Leu660Met) c.5872T>A (p.Leu1958Met) c.5863T>A (p.Leu1955Met) c.5878T>A (p.Leu1960Met) c.175T>A (p.Leu59Met) | |
| X | g.32310199A= | CA2422745223 | DMD | c.846T= (p.Tyr282=) c.6000T= (p.Tyr2000=) c.1968T= (p.Tyr656=) c.5988T= (p.Tyr1996=) n.336-93136T= c.5976T= (p.Tyr1992=) c.5631T= (p.Tyr1877=) c.1977T= (p.Tyr659=) c.5871T= (p.Tyr1957=) c.5862T= (p.Tyr1954=) c.5877T= (p.Tyr1959=) c.174T= (p.Tyr58=) | |
| X | g.32310199A>C | CA412669893 | DMD | c.846T>G (p.Tyr282Ter) c.6000T>G (p.Tyr2000Ter) c.1968T>G (p.Tyr656Ter) c.5988T>G (p.Tyr1996Ter) n.336-93136T>G c.5976T>G (p.Tyr1992Ter) c.5631T>G (p.Tyr1877Ter) c.1977T>G (p.Tyr659Ter) c.5871T>G (p.Tyr1957Ter) c.5862T>G (p.Tyr1954Ter) c.5877T>G (p.Tyr1959Ter) c.174T>G (p.Tyr58Ter) |