Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.32310195T>ACA412669873DMDc.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
Xg.32310195T>CCA412669874DMDc.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)
Xg.32310195T>GCA412669877DMDc.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)
Xg.32310196C>ACA412669879DMDc.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
Xg.32310196C>GCA412669884DMDc.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)
Xg.32310196C>TCA515863253DMDc.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
Xg.32310197A>CCA412669886DMDc.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)
Xg.32310197A>GCA412669888DMDc.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)
Xg.32310197A>TCA412669889DMDc.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)
Xg.32310198A>CCA412669891DMDc.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)
Xg.32310198A>GCA515863254DMDc.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=)
Xg.32310198A>TCA412669890DMDc.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)
Xg.32310199A=CA2422745223DMDc.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=)
Xg.32310199A>CCA412669893DMDc.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)
Xg.32310199A>GCA515863256DMDc.846T>C (p.Tyr282=)
c.6000T>C (p.Tyr2000=)
c.1968T>C (p.Tyr656=)
c.5988T>C (p.Tyr1996=)
n.336-93136T>C
c.5976T>C (p.Tyr1992=)
c.5631T>C (p.Tyr1877=)
c.1977T>C (p.Tyr659=)
c.5871T>C (p.Tyr1957=)
c.5862T>C (p.Tyr1954=)
c.5877T>C (p.Tyr1959=)
c.174T>C (p.Tyr58=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310199A>TCA267090DMDc.846T>A (p.Tyr282Ter)
c.6000T>A (p.Tyr2000Ter)
c.1968T>A (p.Tyr656Ter)
c.5988T>A (p.Tyr1996Ter)
n.336-93136T>A
c.5976T>A (p.Tyr1992Ter)
c.5631T>A (p.Tyr1877Ter)
c.1977T>A (p.Tyr659Ter)
c.5871T>A (p.Tyr1957Ter)
c.5862T>A (p.Tyr1954Ter)
c.5877T>A (p.Tyr1959Ter)
c.174T>A (p.Tyr58Ter)
 ClinVar dbSNP
Xg.32310200T>ACA412669896DMDc.845A>T (p.Tyr282Phe)
c.5999A>T (p.Tyr2000Phe)
c.1967A>T (p.Tyr656Phe)
c.5987A>T (p.Tyr1996Phe)
n.336-93137A>T
c.5975A>T (p.Tyr1992Phe)
c.5630A>T (p.Tyr1877Phe)
c.1976A>T (p.Tyr659Phe)
c.5870A>T (p.Tyr1957Phe)
c.5861A>T (p.Tyr1954Phe)
c.5876A>T (p.Tyr1959Phe)
c.173A>T (p.Tyr58Phe)
 ClinVar dbSNP gnomAD v4
Xg.32310200T>CCA412669898DMDc.845A>G (p.Tyr282Cys)
c.5999A>G (p.Tyr2000Cys)
c.1967A>G (p.Tyr656Cys)
c.5987A>G (p.Tyr1996Cys)
n.336-93137A>G
c.5975A>G (p.Tyr1992Cys)
c.5630A>G (p.Tyr1877Cys)
c.1976A>G (p.Tyr659Cys)
c.5870A>G (p.Tyr1957Cys)
c.5861A>G (p.Tyr1954Cys)
c.5876A>G (p.Tyr1959Cys)
c.173A>G (p.Tyr58Cys)
Xg.32310200T>GCA412669899DMDc.845A>C (p.Tyr282Ser)
c.5999A>C (p.Tyr2000Ser)
c.1967A>C (p.Tyr656Ser)
c.5987A>C (p.Tyr1996Ser)
n.336-93137A>C
c.5975A>C (p.Tyr1992Ser)
c.5630A>C (p.Tyr1877Ser)
c.1976A>C (p.Tyr659Ser)
c.5870A>C (p.Tyr1957Ser)
c.5861A>C (p.Tyr1954Ser)
c.5876A>C (p.Tyr1959Ser)
c.173A>C (p.Tyr58Ser)
Xg.32310200T=CA2422745224DMDc.845A= (p.Tyr282=)
c.5999A= (p.Tyr2000=)
c.1967A= (p.Tyr656=)
c.5987A= (p.Tyr1996=)
n.336-93137A=
c.5975A= (p.Tyr1992=)
c.5630A= (p.Tyr1877=)
c.1976A= (p.Tyr659=)
c.5870A= (p.Tyr1957=)
c.5861A= (p.Tyr1954=)
c.5876A= (p.Tyr1959=)
c.173A= (p.Tyr58=)
Xg.32310202_32310205delCA2695233299DMDc.842_845del (p.Thr281IlefsTer2)
c.5996_5999del (p.Thr1999IlefsTer2)
c.1964_1967del (p.Thr655IlefsTer2)
c.5984_5987del (p.Thr1995IlefsTer2)
n.336-93140_336-93137del
c.5972_5975del (p.Thr1991IlefsTer2)
c.5627_5630del (p.Thr1876IlefsTer2)
c.1973_1976del (p.Thr658IlefsTer2)
c.5867_5870del (p.Thr1956IlefsTer2)
c.5858_5861del (p.Thr1953IlefsTer2)
c.5873_5876del (p.Thr1958IlefsTer2)
c.170_173del (p.Thr57IlefsTer2)
Xg.32310201A>CCA412669900DMDc.844T>G (p.Tyr282Asp)
c.5998T>G (p.Tyr2000Asp)
c.1966T>G (p.Tyr656Asp)
c.5986T>G (p.Tyr1996Asp)
n.336-93138T>G
c.5974T>G (p.Tyr1992Asp)
c.5629T>G (p.Tyr1877Asp)
c.1975T>G (p.Tyr659Asp)
c.5869T>G (p.Tyr1957Asp)
c.5860T>G (p.Tyr1954Asp)
c.5875T>G (p.Tyr1959Asp)
c.172T>G (p.Tyr58Asp)
Xg.32310201A>GCA412669902DMDc.844T>C (p.Tyr282His)
c.5998T>C (p.Tyr2000His)
c.1966T>C (p.Tyr656His)
c.5986T>C (p.Tyr1996His)
n.336-93138T>C
c.5974T>C (p.Tyr1992His)
c.5629T>C (p.Tyr1877His)
c.1975T>C (p.Tyr659His)
c.5869T>C (p.Tyr1957His)
c.5860T>C (p.Tyr1954His)
c.5875T>C (p.Tyr1959His)
c.172T>C (p.Tyr58His)
Xg.32310201A>TCA412669904DMDc.844T>A (p.Tyr282Asn)
c.5998T>A (p.Tyr2000Asn)
c.1966T>A (p.Tyr656Asn)
c.5986T>A (p.Tyr1996Asn)
n.336-93138T>A
c.5974T>A (p.Tyr1992Asn)
c.5629T>A (p.Tyr1877Asn)
c.1975T>A (p.Tyr659Asn)
c.5869T>A (p.Tyr1957Asn)
c.5860T>A (p.Tyr1954Asn)
c.5875T>A (p.Tyr1959Asn)
c.172T>A (p.Tyr58Asn)
 gnomAD v4
Xg.32310202A>CCA515863258DMDc.843T>G (p.Thr281=)
c.5997T>G (p.Thr1999=)
c.1965T>G (p.Thr655=)
c.5985T>G (p.Thr1995=)
n.336-93139T>G
c.5973T>G (p.Thr1991=)
c.5628T>G (p.Thr1876=)
c.1974T>G (p.Thr658=)
c.5868T>G (p.Thr1956=)
c.5859T>G (p.Thr1953=)
c.5874T>G (p.Thr1958=)
c.171T>G (p.Thr57=)
Xg.32310202A>GCA515863257DMDc.843T>C (p.Thr281=)
c.5997T>C (p.Thr1999=)
c.1965T>C (p.Thr655=)
c.5985T>C (p.Thr1995=)
n.336-93139T>C
c.5973T>C (p.Thr1991=)
c.5628T>C (p.Thr1876=)
c.1974T>C (p.Thr658=)
c.5868T>C (p.Thr1956=)
c.5859T>C (p.Thr1953=)
c.5874T>C (p.Thr1958=)
c.171T>C (p.Thr57=)
Xg.32310202A>TCA515863259DMDc.843T>A (p.Thr281=)
c.5997T>A (p.Thr1999=)
c.1965T>A (p.Thr655=)
c.5985T>A (p.Thr1995=)
n.336-93139T>A
c.5973T>A (p.Thr1991=)
c.5628T>A (p.Thr1876=)
c.1974T>A (p.Thr658=)
c.5868T>A (p.Thr1956=)
c.5859T>A (p.Thr1953=)
c.5874T>A (p.Thr1958=)
c.171T>A (p.Thr57=)
Xg.32310203G>ACA412669909DMDc.842C>T (p.Thr281Ile)
c.5996C>T (p.Thr1999Ile)
c.1964C>T (p.Thr655Ile)
c.5984C>T (p.Thr1995Ile)
n.336-93140C>T
c.5972C>T (p.Thr1991Ile)
c.5627C>T (p.Thr1876Ile)
c.1973C>T (p.Thr658Ile)
c.5867C>T (p.Thr1956Ile)
c.5858C>T (p.Thr1953Ile)
c.5873C>T (p.Thr1958Ile)
c.170C>T (p.Thr57Ile)
Xg.32310203G>CCA412669911DMDc.842C>G (p.Thr281Ser)
c.5996C>G (p.Thr1999Ser)
c.1964C>G (p.Thr655Ser)
c.5984C>G (p.Thr1995Ser)
n.336-93140C>G
c.5972C>G (p.Thr1991Ser)
c.5627C>G (p.Thr1876Ser)
c.1973C>G (p.Thr658Ser)
c.5867C>G (p.Thr1956Ser)
c.5858C>G (p.Thr1953Ser)
c.5873C>G (p.Thr1958Ser)
c.170C>G (p.Thr57Ser)
Xg.32310203G>TCA412669913DMDc.842C>A (p.Thr281Asn)
c.5996C>A (p.Thr1999Asn)
c.1964C>A (p.Thr655Asn)
c.5984C>A (p.Thr1995Asn)
n.336-93140C>A
c.5972C>A (p.Thr1991Asn)
c.5627C>A (p.Thr1876Asn)
c.1973C>A (p.Thr658Asn)
c.5867C>A (p.Thr1956Asn)
c.5858C>A (p.Thr1953Asn)
c.5873C>A (p.Thr1958Asn)
c.170C>A (p.Thr57Asn)
Xg.32310204T>ACA412669919DMDc.841A>T (p.Thr281Ser)
c.5995A>T (p.Thr1999Ser)
c.1963A>T (p.Thr655Ser)
c.5983A>T (p.Thr1995Ser)
n.336-93141A>T
c.5971A>T (p.Thr1991Ser)
c.5626A>T (p.Thr1876Ser)
c.1972A>T (p.Thr658Ser)
c.5866A>T (p.Thr1956Ser)
c.5857A>T (p.Thr1953Ser)
c.5872A>T (p.Thr1958Ser)
c.169A>T (p.Thr57Ser)
Xg.32310204T>CCA412669921DMDc.841A>G (p.Thr281Ala)
c.5995A>G (p.Thr1999Ala)
c.1963A>G (p.Thr655Ala)
c.5983A>G (p.Thr1995Ala)
n.336-93141A>G
c.5971A>G (p.Thr1991Ala)
c.5626A>G (p.Thr1876Ala)
c.1972A>G (p.Thr658Ala)
c.5866A>G (p.Thr1956Ala)
c.5857A>G (p.Thr1953Ala)
c.5872A>G (p.Thr1958Ala)
c.169A>G (p.Thr57Ala)
 ClinVar
Xg.32310204T>GCA412669916DMDc.841A>C (p.Thr281Pro)
c.5995A>C (p.Thr1999Pro)
c.1963A>C (p.Thr655Pro)
c.5983A>C (p.Thr1995Pro)
n.336-93141A>C
c.5971A>C (p.Thr1991Pro)
c.5626A>C (p.Thr1876Pro)
c.1972A>C (p.Thr658Pro)
c.5866A>C (p.Thr1956Pro)
c.5857A>C (p.Thr1953Pro)
c.5872A>C (p.Thr1958Pro)
c.169A>C (p.Thr57Pro)
Xg.32310205A>CCA515863260DMDc.840T>G (p.Ser280=)
c.5994T>G (p.Ser1998=)
c.1962T>G (p.Ser654=)
c.5982T>G (p.Ser1994=)
n.336-93142T>G
c.5970T>G (p.Ser1990=)
c.5625T>G (p.Ser1875=)
c.1971T>G (p.Ser657=)
c.5865T>G (p.Ser1955=)
c.5856T>G (p.Ser1952=)
c.5871T>G (p.Ser1957=)
c.168T>G (p.Ser56=)
Xg.32310205A>GCA515863261DMDc.840T>C (p.Ser280=)
c.5994T>C (p.Ser1998=)
c.1962T>C (p.Ser654=)
c.5982T>C (p.Ser1994=)
n.336-93142T>C
c.5970T>C (p.Ser1990=)
c.5625T>C (p.Ser1875=)
c.1971T>C (p.Ser657=)
c.5865T>C (p.Ser1955=)
c.5856T>C (p.Ser1952=)
c.5871T>C (p.Ser1957=)
c.168T>C (p.Ser56=)
Xg.32310205A>TCA515863262DMDc.840T>A (p.Ser280=)
c.5994T>A (p.Ser1998=)
c.1962T>A (p.Ser654=)
c.5982T>A (p.Ser1994=)
n.336-93142T>A
c.5970T>A (p.Ser1990=)
c.5625T>A (p.Ser1875=)
c.1971T>A (p.Ser657=)
c.5865T>A (p.Ser1955=)
c.5856T>A (p.Ser1952=)
c.5871T>A (p.Ser1957=)
c.168T>A (p.Ser56=)
 COSMIC COSMIC COSMIC COSMIC
Xg.32310206G>ACA412669923DMDc.839C>T (p.Ser280Phe)
c.5993C>T (p.Ser1998Phe)
c.1961C>T (p.Ser654Phe)
c.5981C>T (p.Ser1994Phe)
n.336-93143C>T
c.5969C>T (p.Ser1990Phe)
c.5624C>T (p.Ser1875Phe)
c.1970C>T (p.Ser657Phe)
c.5864C>T (p.Ser1955Phe)
c.5855C>T (p.Ser1952Phe)
c.5870C>T (p.Ser1957Phe)
c.167C>T (p.Ser56Phe)
 dbSNP gnomAD v2 gnomAD v4
Xg.32310206G>CCA412669925DMDc.839C>G (p.Ser280Cys)
c.5993C>G (p.Ser1998Cys)
c.1961C>G (p.Ser654Cys)
c.5981C>G (p.Ser1994Cys)
n.336-93143C>G
c.5969C>G (p.Ser1990Cys)
c.5624C>G (p.Ser1875Cys)
c.1970C>G (p.Ser657Cys)
c.5864C>G (p.Ser1955Cys)
c.5855C>G (p.Ser1952Cys)
c.5870C>G (p.Ser1957Cys)
c.167C>G (p.Ser56Cys)
 gnomAD v4
Xg.32310206G=CA2422745225DMDc.839C= (p.Ser280=)
c.5993C= (p.Ser1998=)
c.1961C= (p.Ser654=)
c.5981C= (p.Ser1994=)
n.336-93143C=
c.5969C= (p.Ser1990=)
c.5624C= (p.Ser1875=)
c.1970C= (p.Ser657=)
c.5864C= (p.Ser1955=)
c.5855C= (p.Ser1952=)
c.5870C= (p.Ser1957=)
c.167C= (p.Ser56=)
Xg.32310206G>TCA412669929DMDc.839C>A (p.Ser280Tyr)
c.5993C>A (p.Ser1998Tyr)
c.1961C>A (p.Ser654Tyr)
c.5981C>A (p.Ser1994Tyr)
n.336-93143C>A
c.5969C>A (p.Ser1990Tyr)
c.5624C>A (p.Ser1875Tyr)
c.1970C>A (p.Ser657Tyr)
c.5864C>A (p.Ser1955Tyr)
c.5855C>A (p.Ser1952Tyr)
c.5870C>A (p.Ser1957Tyr)
c.167C>A (p.Ser56Tyr)
Xg.32310207A>CCA412669932DMDc.838T>G (p.Ser280Ala)
c.5992T>G (p.Ser1998Ala)
c.1960T>G (p.Ser654Ala)
c.5980T>G (p.Ser1994Ala)
n.336-93144T>G
c.5968T>G (p.Ser1990Ala)
c.5623T>G (p.Ser1875Ala)
c.1969T>G (p.Ser657Ala)
c.5863T>G (p.Ser1955Ala)
c.5854T>G (p.Ser1952Ala)
c.5869T>G (p.Ser1957Ala)
c.166T>G (p.Ser56Ala)
Xg.32310207A>GCA412669933DMDc.838T>C (p.Ser280Pro)
c.5992T>C (p.Ser1998Pro)
c.1960T>C (p.Ser654Pro)
c.5980T>C (p.Ser1994Pro)
n.336-93144T>C
c.5968T>C (p.Ser1990Pro)
c.5623T>C (p.Ser1875Pro)
c.1969T>C (p.Ser657Pro)
c.5863T>C (p.Ser1955Pro)
c.5854T>C (p.Ser1952Pro)
c.5869T>C (p.Ser1957Pro)
c.166T>C (p.Ser56Pro)
 COSMIC COSMIC COSMIC COSMIC
Xg.32310207A>TCA412669934DMDc.838T>A (p.Ser280Thr)
c.5992T>A (p.Ser1998Thr)
c.1960T>A (p.Ser654Thr)
c.5980T>A (p.Ser1994Thr)
n.336-93144T>A
c.5968T>A (p.Ser1990Thr)
c.5623T>A (p.Ser1875Thr)
c.1969T>A (p.Ser657Thr)
c.5863T>A (p.Ser1955Thr)
c.5854T>A (p.Ser1952Thr)
c.5869T>A (p.Ser1957Thr)
c.166T>A (p.Ser56Thr)
Xg.32310208A=CA2422745226DMDc.837T= (p.Pro279=)
c.5991T= (p.Pro1997=)
c.1959T= (p.Pro653=)
c.5979T= (p.Pro1993=)
n.336-93145T=
c.5967T= (p.Pro1989=)
c.5622T= (p.Pro1874=)
c.1968T= (p.Pro656=)
c.5862T= (p.Pro1954=)
c.5853T= (p.Pro1951=)
c.5868T= (p.Pro1956=)
c.165T= (p.Pro55=)
Xg.32310208A>CCA515863263DMDc.837T>G (p.Pro279=)
c.5991T>G (p.Pro1997=)
c.1959T>G (p.Pro653=)
c.5979T>G (p.Pro1993=)
n.336-93145T>G
c.5967T>G (p.Pro1989=)
c.5622T>G (p.Pro1874=)
c.1968T>G (p.Pro656=)
c.5862T>G (p.Pro1954=)
c.5853T>G (p.Pro1951=)
c.5868T>G (p.Pro1956=)
c.165T>G (p.Pro55=)
 ClinVar dbSNP
Xg.32310208A>GCA328532035DMDc.837T>C (p.Pro279=)
c.5991T>C (p.Pro1997=)
c.1959T>C (p.Pro653=)
c.5979T>C (p.Pro1993=)
n.336-93145T>C
c.5967T>C (p.Pro1989=)
c.5622T>C (p.Pro1874=)
c.1968T>C (p.Pro656=)
c.5862T>C (p.Pro1954=)
c.5853T>C (p.Pro1951=)
c.5868T>C (p.Pro1956=)
c.165T>C (p.Pro55=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32310208A>TCA515863264DMDc.837T>A (p.Pro279=)
c.5991T>A (p.Pro1997=)
c.1959T>A (p.Pro653=)
c.5979T>A (p.Pro1993=)
n.336-93145T>A
c.5967T>A (p.Pro1989=)
c.5622T>A (p.Pro1874=)
c.1968T>A (p.Pro656=)
c.5862T>A (p.Pro1954=)
c.5853T>A (p.Pro1951=)
c.5868T>A (p.Pro1956=)
c.165T>A (p.Pro55=)
Xg.32310209G>ACA412669935DMDc.836C>T (p.Pro279Leu)
c.5990C>T (p.Pro1997Leu)
c.1958C>T (p.Pro653Leu)
c.5978C>T (p.Pro1993Leu)
n.336-93146C>T
c.5966C>T (p.Pro1989Leu)
c.5621C>T (p.Pro1874Leu)
c.1967C>T (p.Pro656Leu)
c.5861C>T (p.Pro1954Leu)
c.5852C>T (p.Pro1951Leu)
c.5867C>T (p.Pro1956Leu)
c.164C>T (p.Pro55Leu)
 gnomAD v4
Xg.32310209G>CCA412669936DMDc.836C>G (p.Pro279Arg)
c.5990C>G (p.Pro1997Arg)
c.1958C>G (p.Pro653Arg)
c.5978C>G (p.Pro1993Arg)
n.336-93146C>G
c.5966C>G (p.Pro1989Arg)
c.5621C>G (p.Pro1874Arg)
c.1967C>G (p.Pro656Arg)
c.5861C>G (p.Pro1954Arg)
c.5852C>G (p.Pro1951Arg)
c.5867C>G (p.Pro1956Arg)
c.164C>G (p.Pro55Arg)
Xg.32310209G=CA2422745227DMDc.836C= (p.Pro279=)
c.5990C= (p.Pro1997=)
c.1958C= (p.Pro653=)
c.5978C= (p.Pro1993=)
n.336-93146C=
c.5966C= (p.Pro1989=)
c.5621C= (p.Pro1874=)
c.1967C= (p.Pro656=)
c.5861C= (p.Pro1954=)
c.5852C= (p.Pro1951=)
c.5867C= (p.Pro1956=)
c.164C= (p.Pro55=)
Xg.32310209G>TCA412669937DMDc.836C>A (p.Pro279His)
c.5990C>A (p.Pro1997His)
c.1958C>A (p.Pro653His)
c.5978C>A (p.Pro1993His)
n.336-93146C>A
c.5966C>A (p.Pro1989His)
c.5621C>A (p.Pro1874His)
c.1967C>A (p.Pro656His)
c.5861C>A (p.Pro1954His)
c.5852C>A (p.Pro1951His)
c.5867C>A (p.Pro1956His)
c.164C>A (p.Pro55His)
 dbSNP gnomAD v2 gnomAD v4
Xg.32310210G>ACA412669938DMDc.835C>T (p.Pro279Ser)
c.5989C>T (p.Pro1997Ser)
c.1957C>T (p.Pro653Ser)
c.5977C>T (p.Pro1993Ser)
n.336-93147C>T
c.5965C>T (p.Pro1989Ser)
c.5620C>T (p.Pro1874Ser)
c.1966C>T (p.Pro656Ser)
c.5860C>T (p.Pro1954Ser)
c.5851C>T (p.Pro1951Ser)
c.5866C>T (p.Pro1956Ser)
c.163C>T (p.Pro55Ser)
Xg.32310210G>CCA412669939DMDc.835C>G (p.Pro279Ala)
c.5989C>G (p.Pro1997Ala)
c.1957C>G (p.Pro653Ala)
c.5977C>G (p.Pro1993Ala)
n.336-93147C>G
c.5965C>G (p.Pro1989Ala)
c.5620C>G (p.Pro1874Ala)
c.1966C>G (p.Pro656Ala)
c.5860C>G (p.Pro1954Ala)
c.5851C>G (p.Pro1951Ala)
c.5866C>G (p.Pro1956Ala)
c.163C>G (p.Pro55Ala)
Xg.32310210G=CA2422745228DMDc.835C= (p.Pro279=)
c.5989C= (p.Pro1997=)
c.1957C= (p.Pro653=)
c.5977C= (p.Pro1993=)
n.336-93147C=
c.5965C= (p.Pro1989=)
c.5620C= (p.Pro1874=)
c.1966C= (p.Pro656=)
c.5860C= (p.Pro1954=)
c.5851C= (p.Pro1951=)
c.5866C= (p.Pro1956=)
c.163C= (p.Pro55=)
Xg.32310210G>TCA412669940DMDc.835C>A (p.Pro279Thr)
c.5989C>A (p.Pro1997Thr)
c.1957C>A (p.Pro653Thr)
c.5977C>A (p.Pro1993Thr)
n.336-93147C>A
c.5965C>A (p.Pro1989Thr)
c.5620C>A (p.Pro1874Thr)
c.1966C>A (p.Pro656Thr)
c.5860C>A (p.Pro1954Thr)
c.5851C>A (p.Pro1951Thr)
c.5866C>A (p.Pro1956Thr)
c.163C>A (p.Pro55Thr)
 dbSNP
Xg.32310211C>ACA515863265DMDc.834G>T (p.Val278=)
c.5988G>T (p.Val1996=)
c.1956G>T (p.Val652=)
c.5976G>T (p.Val1992=)
n.336-93148G>T
c.5964G>T (p.Val1988=)
c.5619G>T (p.Val1873=)
c.1965G>T (p.Val655=)
c.5859G>T (p.Val1953=)
c.5850G>T (p.Val1950=)
c.5865G>T (p.Val1955=)
c.162G>T (p.Val54=)
 gnomAD v4
Xg.32310211C>GCA515863266DMDc.834G>C (p.Val278=)
c.5988G>C (p.Val1996=)
c.1956G>C (p.Val652=)
c.5976G>C (p.Val1992=)
n.336-93148G>C
c.5964G>C (p.Val1988=)
c.5619G>C (p.Val1873=)
c.1965G>C (p.Val655=)
c.5859G>C (p.Val1953=)
c.5850G>C (p.Val1950=)
c.5865G>C (p.Val1955=)
c.162G>C (p.Val54=)
Xg.32310211C>TCA515863267DMDc.834G>A (p.Val278=)
c.5988G>A (p.Val1996=)
c.1956G>A (p.Val652=)
c.5976G>A (p.Val1992=)
n.336-93148G>A
c.5964G>A (p.Val1988=)
c.5619G>A (p.Val1873=)
c.1965G>A (p.Val655=)
c.5859G>A (p.Val1953=)
c.5850G>A (p.Val1950=)
c.5865G>A (p.Val1955=)
c.162G>A (p.Val54=)
 gnomAD v3 gnomAD v4
Xg.32310212A=CA2422745229DMDc.833T= (p.Val278=)
c.5987T= (p.Val1996=)
c.1955T= (p.Val652=)
c.5975T= (p.Val1992=)
n.336-93149T=
c.5963T= (p.Val1988=)
c.5618T= (p.Val1873=)
c.1964T= (p.Val655=)
c.5858T= (p.Val1953=)
c.5849T= (p.Val1950=)
c.5864T= (p.Val1955=)
c.161T= (p.Val54=)
Xg.32310212A>CCA412669942DMDc.833T>G (p.Val278Gly)
c.5987T>G (p.Val1996Gly)
c.1955T>G (p.Val652Gly)
c.5975T>G (p.Val1992Gly)
n.336-93149T>G
c.5963T>G (p.Val1988Gly)
c.5618T>G (p.Val1873Gly)
c.1964T>G (p.Val655Gly)
c.5858T>G (p.Val1953Gly)
c.5849T>G (p.Val1950Gly)
c.5864T>G (p.Val1955Gly)
c.161T>G (p.Val54Gly)
Xg.32310212A>GCA412669943DMDc.833T>C (p.Val278Ala)
c.5987T>C (p.Val1996Ala)
c.1955T>C (p.Val652Ala)
c.5975T>C (p.Val1992Ala)
n.336-93149T>C
c.5963T>C (p.Val1988Ala)
c.5618T>C (p.Val1873Ala)
c.1964T>C (p.Val655Ala)
c.5858T>C (p.Val1953Ala)
c.5849T>C (p.Val1950Ala)
c.5864T>C (p.Val1955Ala)
c.161T>C (p.Val54Ala)
 dbSNP
Xg.32310212A>TCA412669941DMDc.833T>A (p.Val278Glu)
c.5987T>A (p.Val1996Glu)
c.1955T>A (p.Val652Glu)
c.5975T>A (p.Val1992Glu)
n.336-93149T>A
c.5963T>A (p.Val1988Glu)
c.5618T>A (p.Val1873Glu)
c.1964T>A (p.Val655Glu)
c.5858T>A (p.Val1953Glu)
c.5849T>A (p.Val1950Glu)
c.5864T>A (p.Val1955Glu)
c.161T>A (p.Val54Glu)
Xg.32310213C>ACA412669945DMDc.832G>T (p.Val278Leu)
c.5986G>T (p.Val1996Leu)
c.1954G>T (p.Val652Leu)
c.5974G>T (p.Val1992Leu)
n.336-93150G>T
c.5962G>T (p.Val1988Leu)
c.5617G>T (p.Val1873Leu)
c.1963G>T (p.Val655Leu)
c.5857G>T (p.Val1953Leu)
c.5848G>T (p.Val1950Leu)
c.5863G>T (p.Val1955Leu)
c.160G>T (p.Val54Leu)
Xg.32310213C=CA2422745230DMDc.832G= (p.Val278=)
c.5986G= (p.Val1996=)
c.1954G= (p.Val652=)
c.5974G= (p.Val1992=)
n.336-93150G=
c.5962G= (p.Val1988=)
c.5617G= (p.Val1873=)
c.1963G= (p.Val655=)
c.5857G= (p.Val1953=)
c.5848G= (p.Val1950=)
c.5863G= (p.Val1955=)
c.160G= (p.Val54=)
Xg.32310213C>GCA412669949DMDc.832G>C (p.Val278Leu)
c.5986G>C (p.Val1996Leu)
c.1954G>C (p.Val652Leu)
c.5974G>C (p.Val1992Leu)
n.336-93150G>C
c.5962G>C (p.Val1988Leu)
c.5617G>C (p.Val1873Leu)
c.1963G>C (p.Val655Leu)
c.5857G>C (p.Val1953Leu)
c.5848G>C (p.Val1950Leu)
c.5863G>C (p.Val1955Leu)
c.160G>C (p.Val54Leu)
Xg.32310213C>TCA412669950DMDc.832G>A (p.Val278Met)
c.5986G>A (p.Val1996Met)
c.1954G>A (p.Val652Met)
c.5974G>A (p.Val1992Met)
n.336-93150G>A
c.5962G>A (p.Val1988Met)
c.5617G>A (p.Val1873Met)
c.1963G>A (p.Val655Met)
c.5857G>A (p.Val1953Met)
c.5848G>A (p.Val1950Met)
c.5863G>A (p.Val1955Met)
c.160G>A (p.Val54Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32310214A=CA2422745231DMDc.831T= (p.Tyr277=)
c.5985T= (p.Tyr1995=)
c.1953T= (p.Tyr651=)
c.5973T= (p.Tyr1991=)
n.336-93151T=
c.5961T= (p.Tyr1987=)
c.5616T= (p.Tyr1872=)
c.1962T= (p.Tyr654=)
c.5856T= (p.Tyr1952=)
c.5847T= (p.Tyr1949=)
c.5862T= (p.Tyr1954=)
c.159T= (p.Tyr53=)
Xg.32310214A>CCA341079DMDc.831T>G (p.Tyr277Ter)
c.5985T>G (p.Tyr1995Ter)
c.1953T>G (p.Tyr651Ter)
c.5973T>G (p.Tyr1991Ter)
n.336-93151T>G
c.5961T>G (p.Tyr1987Ter)
c.5616T>G (p.Tyr1872Ter)
c.1962T>G (p.Tyr654Ter)
c.5856T>G (p.Tyr1952Ter)
c.5847T>G (p.Tyr1949Ter)
c.5862T>G (p.Tyr1954Ter)
c.159T>G (p.Tyr53Ter)
 ClinVar dbSNP
Xg.32310214A>GCA515863268DMDc.831T>C (p.Tyr277=)
c.5985T>C (p.Tyr1995=)
c.1953T>C (p.Tyr651=)
c.5973T>C (p.Tyr1991=)
n.336-93151T>C
c.5961T>C (p.Tyr1987=)
c.5616T>C (p.Tyr1872=)
c.1962T>C (p.Tyr654=)
c.5856T>C (p.Tyr1952=)
c.5847T>C (p.Tyr1949=)
c.5862T>C (p.Tyr1954=)
c.159T>C (p.Tyr53=)
Xg.32310214A>TCA412669954DMDc.831T>A (p.Tyr277Ter)
c.5985T>A (p.Tyr1995Ter)
c.1953T>A (p.Tyr651Ter)
c.5973T>A (p.Tyr1991Ter)
n.336-93151T>A
c.5961T>A (p.Tyr1987Ter)
c.5616T>A (p.Tyr1872Ter)
c.1962T>A (p.Tyr654Ter)
c.5856T>A (p.Tyr1952Ter)
c.5847T>A (p.Tyr1949Ter)
c.5862T>A (p.Tyr1954Ter)
c.159T>A (p.Tyr53Ter)
Xg.32310214_32310215delinsATCA2422745232DMDc.830_831delinsAT (p.Tyr277=)
c.5984_5985delinsAT (p.Tyr1995=)
c.1952_1953delinsAT (p.Tyr651=)
c.5972_5973delinsAT (p.Tyr1991=)
n.336-93152_336-93151delinsAT
c.5960_5961delinsAT (p.Tyr1987=)
c.5615_5616delinsAT (p.Tyr1872=)
c.1961_1962delinsAT (p.Tyr654=)
c.5855_5856delinsAT (p.Tyr1952=)
c.5846_5847delinsAT (p.Tyr1949=)
c.5861_5862delinsAT (p.Tyr1954=)
c.158_159delinsAT (p.Tyr53=)
Xg.32310215delCA645369757DMDc.830del (p.Tyr277LeufsTer7)
c.5984del (p.Tyr1995LeufsTer7)
c.1952del (p.Tyr651LeufsTer7)
c.5972del (p.Tyr1991LeufsTer7)
n.336-93152del
c.5960del (p.Tyr1987LeufsTer7)
c.5615del (p.Tyr1872LeufsTer7)
c.1961del (p.Tyr654LeufsTer7)
c.5855del (p.Tyr1952LeufsTer7)
c.5846del (p.Tyr1949LeufsTer7)
c.5861del (p.Tyr1954LeufsTer7)
c.158del (p.Tyr53LeufsTer7)
 ClinVar dbSNP
Xg.32310215T>ACA147837DMDc.830A>T (p.Tyr277Phe)
c.5984A>T (p.Tyr1995Phe)
c.1952A>T (p.Tyr651Phe)
c.5972A>T (p.Tyr1991Phe)
n.336-93152A>T
c.5960A>T (p.Tyr1987Phe)
c.5615A>T (p.Tyr1872Phe)
c.1961A>T (p.Tyr654Phe)
c.5855A>T (p.Tyr1952Phe)
c.5846A>T (p.Tyr1949Phe)
c.5861A>T (p.Tyr1954Phe)
c.158A>T (p.Tyr53Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310215T>CCA412669958DMDc.830A>G (p.Tyr277Cys)
c.5984A>G (p.Tyr1995Cys)
c.1952A>G (p.Tyr651Cys)
c.5972A>G (p.Tyr1991Cys)
n.336-93152A>G
c.5960A>G (p.Tyr1987Cys)
c.5615A>G (p.Tyr1872Cys)
c.1961A>G (p.Tyr654Cys)
c.5855A>G (p.Tyr1952Cys)
c.5846A>G (p.Tyr1949Cys)
c.5861A>G (p.Tyr1954Cys)
c.158A>G (p.Tyr53Cys)
Xg.32310215T>GCA412669961DMDc.830A>C (p.Tyr277Ser)
c.5984A>C (p.Tyr1995Ser)
c.1952A>C (p.Tyr651Ser)
c.5972A>C (p.Tyr1991Ser)
n.336-93152A>C
c.5960A>C (p.Tyr1987Ser)
c.5615A>C (p.Tyr1872Ser)
c.1961A>C (p.Tyr654Ser)
c.5855A>C (p.Tyr1952Ser)
c.5846A>C (p.Tyr1949Ser)
c.5861A>C (p.Tyr1954Ser)
c.158A>C (p.Tyr53Ser)
Xg.32310215T=CA2422745233DMDc.830A= (p.Tyr277=)
c.5984A= (p.Tyr1995=)
c.1952A= (p.Tyr651=)
c.5972A= (p.Tyr1991=)
n.336-93152A=
c.5960A= (p.Tyr1987=)
c.5615A= (p.Tyr1872=)
c.1961A= (p.Tyr654=)
c.5855A= (p.Tyr1952=)
c.5846A= (p.Tyr1949=)
c.5861A= (p.Tyr1954=)
c.158A= (p.Tyr53=)
Xg.32310216A=CA2422745234DMDc.829T= (p.Tyr277=)
c.5983T= (p.Tyr1995=)
c.1951T= (p.Tyr651=)
c.5971T= (p.Tyr1991=)
n.336-93153T=
c.5959T= (p.Tyr1987=)
c.5614T= (p.Tyr1872=)
c.1960T= (p.Tyr654=)
c.5854T= (p.Tyr1952=)
c.5845T= (p.Tyr1949=)
c.5860T= (p.Tyr1954=)
c.157T= (p.Tyr53=)
Xg.32310216A>CCA412669963DMDc.829T>G (p.Tyr277Asp)
c.5983T>G (p.Tyr1995Asp)
c.1951T>G (p.Tyr651Asp)
c.5971T>G (p.Tyr1991Asp)
n.336-93153T>G
c.5959T>G (p.Tyr1987Asp)
c.5614T>G (p.Tyr1872Asp)
c.1960T>G (p.Tyr654Asp)
c.5854T>G (p.Tyr1952Asp)
c.5845T>G (p.Tyr1949Asp)
c.5860T>G (p.Tyr1954Asp)
c.157T>G (p.Tyr53Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32310216A>GCA10378557DMDc.829T>C (p.Tyr277His)
c.5983T>C (p.Tyr1995His)
c.1951T>C (p.Tyr651His)
c.5971T>C (p.Tyr1991His)
n.336-93153T>C
c.5959T>C (p.Tyr1987His)
c.5614T>C (p.Tyr1872His)
c.1960T>C (p.Tyr654His)
c.5854T>C (p.Tyr1952His)
c.5845T>C (p.Tyr1949His)
c.5860T>C (p.Tyr1954His)
c.157T>C (p.Tyr53His)
 dbSNP ExAC gnomAD v2
Xg.32310216A>TCA412669965DMDc.829T>A (p.Tyr277Asn)
c.5983T>A (p.Tyr1995Asn)
c.1951T>A (p.Tyr651Asn)
c.5971T>A (p.Tyr1991Asn)
n.336-93153T>A
c.5959T>A (p.Tyr1987Asn)
c.5614T>A (p.Tyr1872Asn)
c.1960T>A (p.Tyr654Asn)
c.5854T>A (p.Tyr1952Asn)
c.5845T>A (p.Tyr1949Asn)
c.5860T>A (p.Tyr1954Asn)
c.157T>A (p.Tyr53Asn)
Xg.32310217A>CCA515863269DMDc.828T>G (p.Ser276=)
c.5982T>G (p.Ser1994=)
c.1950T>G (p.Ser650=)
c.5970T>G (p.Ser1990=)
n.336-93154T>G
c.5958T>G (p.Ser1986=)
c.5613T>G (p.Ser1871=)
c.1959T>G (p.Ser653=)
c.5853T>G (p.Ser1951=)
c.5844T>G (p.Ser1948=)
c.5859T>G (p.Ser1953=)
c.156T>G (p.Ser52=)
Xg.32310217A>GCA515863270DMDc.828T>C (p.Ser276=)
c.5982T>C (p.Ser1994=)
c.1950T>C (p.Ser650=)
c.5970T>C (p.Ser1990=)
n.336-93154T>C
c.5958T>C (p.Ser1986=)
c.5613T>C (p.Ser1871=)
c.1959T>C (p.Ser653=)
c.5853T>C (p.Ser1951=)
c.5844T>C (p.Ser1948=)
c.5859T>C (p.Ser1953=)
c.156T>C (p.Ser52=)
Xg.32310217A>TCA515863271DMDc.828T>A (p.Ser276=)
c.5982T>A (p.Ser1994=)
c.1950T>A (p.Ser650=)
c.5970T>A (p.Ser1990=)
n.336-93154T>A
c.5958T>A (p.Ser1986=)
c.5613T>A (p.Ser1871=)
c.1959T>A (p.Ser653=)
c.5853T>A (p.Ser1951=)
c.5844T>A (p.Ser1948=)
c.5859T>A (p.Ser1953=)
c.156T>A (p.Ser52=)
Xg.32310218G>ACA412669968DMDc.827C>T (p.Ser276Phe)
c.5981C>T (p.Ser1994Phe)
c.1949C>T (p.Ser650Phe)
c.5969C>T (p.Ser1990Phe)
n.336-93155C>T
c.5957C>T (p.Ser1986Phe)
c.5612C>T (p.Ser1871Phe)
c.1958C>T (p.Ser653Phe)
c.5852C>T (p.Ser1951Phe)
c.5843C>T (p.Ser1948Phe)
c.5858C>T (p.Ser1953Phe)
c.155C>T (p.Ser52Phe)
 dbSNP gnomAD v3 gnomAD v4
Xg.32310218G>CCA412669969DMDc.827C>G (p.Ser276Cys)
c.5981C>G (p.Ser1994Cys)
c.1949C>G (p.Ser650Cys)
c.5969C>G (p.Ser1990Cys)
n.336-93155C>G
c.5957C>G (p.Ser1986Cys)
c.5612C>G (p.Ser1871Cys)
c.1958C>G (p.Ser653Cys)
c.5852C>G (p.Ser1951Cys)
c.5843C>G (p.Ser1948Cys)
c.5858C>G (p.Ser1953Cys)
c.155C>G (p.Ser52Cys)
Xg.32310218G=CA2422745235DMDc.827C= (p.Ser276=)
c.5981C= (p.Ser1994=)
c.1949C= (p.Ser650=)
c.5969C= (p.Ser1990=)
n.336-93155C=
c.5957C= (p.Ser1986=)
c.5612C= (p.Ser1871=)
c.1958C= (p.Ser653=)
c.5852C= (p.Ser1951=)
c.5843C= (p.Ser1948=)
c.5858C= (p.Ser1953=)
c.155C= (p.Ser52=)
Xg.32310218G>TCA412669970DMDc.827C>A (p.Ser276Tyr)
c.5981C>A (p.Ser1994Tyr)
c.1949C>A (p.Ser650Tyr)
c.5969C>A (p.Ser1990Tyr)
n.336-93155C>A
c.5957C>A (p.Ser1986Tyr)
c.5612C>A (p.Ser1871Tyr)
c.1958C>A (p.Ser653Tyr)
c.5852C>A (p.Ser1951Tyr)
c.5843C>A (p.Ser1948Tyr)
c.5858C>A (p.Ser1953Tyr)
c.155C>A (p.Ser52Tyr)
Xg.32310219A>CCA412669973DMDc.826T>G (p.Ser276Ala)
c.5980T>G (p.Ser1994Ala)
c.1948T>G (p.Ser650Ala)
c.5968T>G (p.Ser1990Ala)
n.336-93156T>G
c.5956T>G (p.Ser1986Ala)
c.5611T>G (p.Ser1871Ala)
c.1957T>G (p.Ser653Ala)
c.5851T>G (p.Ser1951Ala)
c.5842T>G (p.Ser1948Ala)
c.5857T>G (p.Ser1953Ala)
c.154T>G (p.Ser52Ala)
Xg.32310219A>GCA412669975DMDc.826T>C (p.Ser276Pro)
c.5980T>C (p.Ser1994Pro)
c.1948T>C (p.Ser650Pro)
c.5968T>C (p.Ser1990Pro)
n.336-93156T>C
c.5956T>C (p.Ser1986Pro)
c.5611T>C (p.Ser1871Pro)
c.1957T>C (p.Ser653Pro)
c.5851T>C (p.Ser1951Pro)
c.5842T>C (p.Ser1948Pro)
c.5857T>C (p.Ser1953Pro)
c.154T>C (p.Ser52Pro)
Xg.32310219A>TCA412669971DMDc.826T>A (p.Ser276Thr)
c.5980T>A (p.Ser1994Thr)
c.1948T>A (p.Ser650Thr)
c.5968T>A (p.Ser1990Thr)
n.336-93156T>A
c.5956T>A (p.Ser1986Thr)
c.5611T>A (p.Ser1871Thr)
c.1957T>A (p.Ser653Thr)
c.5851T>A (p.Ser1951Thr)
c.5842T>A (p.Ser1948Thr)
c.5857T>A (p.Ser1953Thr)
c.154T>A (p.Ser52Thr)
Xg.32310220A>CCA412669976DMDc.825T>G (p.Ile275Met)
c.5979T>G (p.Ile1993Met)
c.1947T>G (p.Ile649Met)
c.5967T>G (p.Ile1989Met)
n.336-93157T>G
c.5955T>G (p.Ile1985Met)
c.5610T>G (p.Ile1870Met)
c.1956T>G (p.Ile652Met)
c.5850T>G (p.Ile1950Met)
c.5841T>G (p.Ile1947Met)
c.5856T>G (p.Ile1952Met)
c.153T>G (p.Ile51Met)
Xg.32310220A>GCA515863272DMDc.825T>C (p.Ile275=)
c.5979T>C (p.Ile1993=)
c.1947T>C (p.Ile649=)
c.5967T>C (p.Ile1989=)
n.336-93157T>C
c.5955T>C (p.Ile1985=)
c.5610T>C (p.Ile1870=)
c.1956T>C (p.Ile652=)
c.5850T>C (p.Ile1950=)
c.5841T>C (p.Ile1947=)
c.5856T>C (p.Ile1952=)
c.153T>C (p.Ile51=)
Xg.32310220A>TCA515863273DMDc.825T>A (p.Ile275=)
c.5979T>A (p.Ile1993=)
c.1947T>A (p.Ile649=)
c.5967T>A (p.Ile1989=)
n.336-93157T>A
c.5955T>A (p.Ile1985=)
c.5610T>A (p.Ile1870=)
c.1956T>A (p.Ile652=)
c.5850T>A (p.Ile1950=)
c.5841T>A (p.Ile1947=)
c.5856T>A (p.Ile1952=)
c.153T>A (p.Ile51=)
Xg.32310221A>CCA412669977DMDc.824T>G (p.Ile275Ser)
c.5978T>G (p.Ile1993Ser)
c.1946T>G (p.Ile649Ser)
c.5966T>G (p.Ile1989Ser)
n.336-93158T>G
c.5954T>G (p.Ile1985Ser)
c.5609T>G (p.Ile1870Ser)
c.1955T>G (p.Ile652Ser)
c.5849T>G (p.Ile1950Ser)
c.5840T>G (p.Ile1947Ser)
c.5855T>G (p.Ile1952Ser)
c.152T>G (p.Ile51Ser)
Xg.32310221A>GCA412669979DMDc.824T>C (p.Ile275Thr)
c.5978T>C (p.Ile1993Thr)
c.1946T>C (p.Ile649Thr)
c.5966T>C (p.Ile1989Thr)
n.336-93158T>C
c.5954T>C (p.Ile1985Thr)
c.5609T>C (p.Ile1870Thr)
c.1955T>C (p.Ile652Thr)
c.5849T>C (p.Ile1950Thr)
c.5840T>C (p.Ile1947Thr)
c.5855T>C (p.Ile1952Thr)
c.152T>C (p.Ile51Thr)
Xg.32310221A>TCA412669980DMDc.824T>A (p.Ile275Asn)
c.5978T>A (p.Ile1993Asn)
c.1946T>A (p.Ile649Asn)
c.5966T>A (p.Ile1989Asn)
n.336-93158T>A
c.5954T>A (p.Ile1985Asn)
c.5609T>A (p.Ile1870Asn)
c.1955T>A (p.Ile652Asn)
c.5849T>A (p.Ile1950Asn)
c.5840T>A (p.Ile1947Asn)
c.5855T>A (p.Ile1952Asn)
c.152T>A (p.Ile51Asn)
Xg.32310222T>ACA412669981DMDc.823A>T (p.Ile275Phe)
c.5977A>T (p.Ile1993Phe)
c.1945A>T (p.Ile649Phe)
c.5965A>T (p.Ile1989Phe)
n.336-93159A>T
c.5953A>T (p.Ile1985Phe)
c.5608A>T (p.Ile1870Phe)
c.1954A>T (p.Ile652Phe)
c.5848A>T (p.Ile1950Phe)
c.5839A>T (p.Ile1947Phe)
c.5854A>T (p.Ile1952Phe)
c.151A>T (p.Ile51Phe)
 ClinVar dbSNP
Xg.32310222T>CCA412669982DMDc.823A>G (p.Ile275Val)
c.5977A>G (p.Ile1993Val)
c.1945A>G (p.Ile649Val)
c.5965A>G (p.Ile1989Val)
n.336-93159A>G
c.5953A>G (p.Ile1985Val)
c.5608A>G (p.Ile1870Val)
c.1954A>G (p.Ile652Val)
c.5848A>G (p.Ile1950Val)
c.5839A>G (p.Ile1947Val)
c.5854A>G (p.Ile1952Val)
c.151A>G (p.Ile51Val)
 ClinVar dbSNP gnomAD v4
Xg.32310222T>GCA412669985DMDc.823A>C (p.Ile275Leu)
c.5977A>C (p.Ile1993Leu)
c.1945A>C (p.Ile649Leu)
c.5965A>C (p.Ile1989Leu)
n.336-93159A>C
c.5953A>C (p.Ile1985Leu)
c.5608A>C (p.Ile1870Leu)
c.1954A>C (p.Ile652Leu)
c.5848A>C (p.Ile1950Leu)
c.5839A>C (p.Ile1947Leu)
c.5854A>C (p.Ile1952Leu)
c.151A>C (p.Ile51Leu)
Xg.32310222T=CA2422745236DMDc.823A= (p.Ile275=)
c.5977A= (p.Ile1993=)
c.1945A= (p.Ile649=)
c.5965A= (p.Ile1989=)
n.336-93159A=
c.5953A= (p.Ile1985=)
c.5608A= (p.Ile1870=)
c.1954A= (p.Ile652=)
c.5848A= (p.Ile1950=)
c.5839A= (p.Ile1947=)
c.5854A= (p.Ile1952=)
c.151A= (p.Ile51=)
Xg.32310223T>ACA412669986DMDc.822A>T (p.Glu274Asp)
c.5976A>T (p.Glu1992Asp)
c.1944A>T (p.Glu648Asp)
c.5964A>T (p.Glu1988Asp)
n.336-93160A>T
c.5952A>T (p.Glu1984Asp)
c.5607A>T (p.Glu1869Asp)
c.1953A>T (p.Glu651Asp)
c.5847A>T (p.Glu1949Asp)
c.5838A>T (p.Glu1946Asp)
c.5853A>T (p.Glu1951Asp)
c.150A>T (p.Glu50Asp)
Xg.32310223T>CCA515863274DMDc.822A>G (p.Glu274=)
c.5976A>G (p.Glu1992=)
c.1944A>G (p.Glu648=)
c.5964A>G (p.Glu1988=)
n.336-93160A>G
c.5952A>G (p.Glu1984=)
c.5607A>G (p.Glu1869=)
c.1953A>G (p.Glu651=)
c.5847A>G (p.Glu1949=)
c.5838A>G (p.Glu1946=)
c.5853A>G (p.Glu1951=)
c.150A>G (p.Glu50=)
 COSMIC COSMIC
Xg.32310223T>GCA412669987DMDc.822A>C (p.Glu274Asp)
c.5976A>C (p.Glu1992Asp)
c.1944A>C (p.Glu648Asp)
c.5964A>C (p.Glu1988Asp)
n.336-93160A>C
c.5952A>C (p.Glu1984Asp)
c.5607A>C (p.Glu1869Asp)
c.1953A>C (p.Glu651Asp)
c.5847A>C (p.Glu1949Asp)
c.5838A>C (p.Glu1946Asp)
c.5853A>C (p.Glu1951Asp)
c.150A>C (p.Glu50Asp)
 ClinVar
Xg.32310224T>ACA412669989DMDc.821A>T (p.Glu274Val)
c.5975A>T (p.Glu1992Val)
c.1943A>T (p.Glu648Val)
c.5963A>T (p.Glu1988Val)
n.336-93161A>T
c.5951A>T (p.Glu1984Val)
c.5606A>T (p.Glu1869Val)
c.1952A>T (p.Glu651Val)
c.5846A>T (p.Glu1949Val)
c.5837A>T (p.Glu1946Val)
c.5852A>T (p.Glu1951Val)
c.149A>T (p.Glu50Val)
Xg.32310224T>CCA412669990DMDc.821A>G (p.Glu274Gly)
c.5975A>G (p.Glu1992Gly)
c.1943A>G (p.Glu648Gly)
c.5963A>G (p.Glu1988Gly)
n.336-93161A>G
c.5951A>G (p.Glu1984Gly)
c.5606A>G (p.Glu1869Gly)
c.1952A>G (p.Glu651Gly)
c.5846A>G (p.Glu1949Gly)
c.5837A>G (p.Glu1946Gly)
c.5852A>G (p.Glu1951Gly)
c.149A>G (p.Glu50Gly)
Xg.32310224T>GCA412669991DMDc.821A>C (p.Glu274Ala)
c.5975A>C (p.Glu1992Ala)
c.1943A>C (p.Glu648Ala)
c.5963A>C (p.Glu1988Ala)
n.336-93161A>C
c.5951A>C (p.Glu1984Ala)
c.5606A>C (p.Glu1869Ala)
c.1952A>C (p.Glu651Ala)
c.5846A>C (p.Glu1949Ala)
c.5837A>C (p.Glu1946Ala)
c.5852A>C (p.Glu1951Ala)
c.149A>C (p.Glu50Ala)
Xg.32310225C>ACA412669993DMDc.820G>T (p.Glu274Ter)
c.5974G>T (p.Glu1992Ter)
c.1942G>T (p.Glu648Ter)
c.5962G>T (p.Glu1988Ter)
n.336-93162G>T
c.5950G>T (p.Glu1984Ter)
c.5605G>T (p.Glu1869Ter)
c.1951G>T (p.Glu651Ter)
c.5845G>T (p.Glu1949Ter)
c.5836G>T (p.Glu1946Ter)
c.5851G>T (p.Glu1951Ter)
c.148G>T (p.Glu50Ter)
Xg.32310225C>GCA412669994DMDc.820G>C (p.Glu274Gln)
c.5974G>C (p.Glu1992Gln)
c.1942G>C (p.Glu648Gln)
c.5962G>C (p.Glu1988Gln)
n.336-93162G>C
c.5950G>C (p.Glu1984Gln)
c.5605G>C (p.Glu1869Gln)
c.1951G>C (p.Glu651Gln)
c.5845G>C (p.Glu1949Gln)
c.5836G>C (p.Glu1946Gln)
c.5851G>C (p.Glu1951Gln)
c.148G>C (p.Glu50Gln)
Xg.32310225C>TCA412669995DMDc.820G>A (p.Glu274Lys)
c.5974G>A (p.Glu1992Lys)
c.1942G>A (p.Glu648Lys)
c.5962G>A (p.Glu1988Lys)
n.336-93162G>A
c.5950G>A (p.Glu1984Lys)
c.5605G>A (p.Glu1869Lys)
c.1951G>A (p.Glu651Lys)
c.5845G>A (p.Glu1949Lys)
c.5836G>A (p.Glu1946Lys)
c.5851G>A (p.Glu1951Lys)
c.148G>A (p.Glu50Lys)
 gnomAD v4
Xg.32310225_32310226insTCA2695233301DMDc.819_820insA (p.Glu274ArgfsTer12)
c.5973_5974insA (p.Glu1992ArgfsTer12)
c.1941_1942insA (p.Glu648ArgfsTer12)
c.5961_5962insA (p.Glu1988ArgfsTer12)
n.336-93163_336-93162insA
c.5949_5950insA (p.Glu1984ArgfsTer12)
c.5604_5605insA (p.Glu1869ArgfsTer12)
c.1950_1951insA (p.Glu651ArgfsTer12)
c.5844_5845insA (p.Glu1949ArgfsTer12)
c.5835_5836insA (p.Glu1946ArgfsTer12)
c.5850_5851insA (p.Glu1951ArgfsTer12)
c.147_148insA (p.Glu50ArgfsTer12)
Xg.32310225_32310226insATTCGTATTTTACA2571926609DMDc.819_820insTAAAATACGAAT
c.5973_5974insTAAAATACGAAT
c.1941_1942insTAAAATACGAAT
c.5961_5962insTAAAATACGAAT
n.336-93163_336-93162insTAAAATACGAAT
c.5949_5950insTAAAATACGAAT
c.5604_5605insTAAAATACGAAT
c.1950_1951insTAAAATACGAAT
c.5844_5845insTAAAATACGAAT
c.5835_5836insTAAAATACGAAT
c.5850_5851insTAAAATACGAAT
c.147_148insTAAAATACGAAT
Xg.32310226C>ACA412669998DMDc.819G>T (p.Leu273Phe)
c.5973G>T (p.Leu1991Phe)
c.1941G>T (p.Leu647Phe)
c.5961G>T (p.Leu1987Phe)
n.336-93163G>T
c.5949G>T (p.Leu1983Phe)
c.5604G>T (p.Leu1868Phe)
c.1950G>T (p.Leu650Phe)
c.5844G>T (p.Leu1948Phe)
c.5835G>T (p.Leu1945Phe)
c.5850G>T (p.Leu1950Phe)
c.147G>T (p.Leu49Phe)
Xg.32310226C>GCA412669996DMDc.819G>C (p.Leu273Phe)
c.5973G>C (p.Leu1991Phe)
c.1941G>C (p.Leu647Phe)
c.5961G>C (p.Leu1987Phe)
n.336-93163G>C
c.5949G>C (p.Leu1983Phe)
c.5604G>C (p.Leu1868Phe)
c.1950G>C (p.Leu650Phe)
c.5844G>C (p.Leu1948Phe)
c.5835G>C (p.Leu1945Phe)
c.5850G>C (p.Leu1950Phe)
c.147G>C (p.Leu49Phe)
Xg.32310226C>TCA515863275DMDc.819G>A (p.Leu273=)
c.5973G>A (p.Leu1991=)
c.1941G>A (p.Leu647=)
c.5961G>A (p.Leu1987=)
n.336-93163G>A
c.5949G>A (p.Leu1983=)
c.5604G>A (p.Leu1868=)
c.1950G>A (p.Leu650=)
c.5844G>A (p.Leu1948=)
c.5835G>A (p.Leu1945=)
c.5850G>A (p.Leu1950=)
c.147G>A (p.Leu49=)
 ClinVar
Xg.32310226_32310227delinsCACA2422745237DMDc.818_819delinsTG (p.Leu273=)
c.5972_5973delinsTG (p.Leu1991=)
c.1940_1941delinsTG (p.Leu647=)
c.5960_5961delinsTG (p.Leu1987=)
n.336-93164_336-93163delinsTG
c.5948_5949delinsTG (p.Leu1983=)
c.5603_5604delinsTG (p.Leu1868=)
c.1949_1950delinsTG (p.Leu650=)
c.5843_5844delinsTG (p.Leu1948=)
c.5834_5835delinsTG (p.Leu1945=)
c.5849_5850delinsTG (p.Leu1950=)
c.146_147delinsTG (p.Leu49=)
Xg.32310227A>CCA412669999DMDc.818T>G (p.Leu273Trp)
c.5972T>G (p.Leu1991Trp)
c.1940T>G (p.Leu647Trp)
c.5960T>G (p.Leu1987Trp)
n.336-93164T>G
c.5948T>G (p.Leu1983Trp)
c.5603T>G (p.Leu1868Trp)
c.1949T>G (p.Leu650Trp)
c.5843T>G (p.Leu1948Trp)
c.5834T>G (p.Leu1945Trp)
c.5849T>G (p.Leu1950Trp)
c.146T>G (p.Leu49Trp)
 ClinVar
Xg.32310227A>GCA412670001DMDc.818T>C (p.Leu273Ser)
c.5972T>C (p.Leu1991Ser)
c.1940T>C (p.Leu647Ser)
c.5960T>C (p.Leu1987Ser)
n.336-93164T>C
c.5948T>C (p.Leu1983Ser)
c.5603T>C (p.Leu1868Ser)
c.1949T>C (p.Leu650Ser)
c.5843T>C (p.Leu1948Ser)
c.5834T>C (p.Leu1945Ser)
c.5849T>C (p.Leu1950Ser)
c.146T>C (p.Leu49Ser)
Xg.32310227A>TCA412670002DMDc.818T>A (p.Leu273Ter)
c.5972T>A (p.Leu1991Ter)
c.1940T>A (p.Leu647Ter)
c.5960T>A (p.Leu1987Ter)
n.336-93164T>A
c.5948T>A (p.Leu1983Ter)
c.5603T>A (p.Leu1868Ter)
c.1949T>A (p.Leu650Ter)
c.5843T>A (p.Leu1948Ter)
c.5834T>A (p.Leu1945Ter)
c.5849T>A (p.Leu1950Ter)
c.146T>A (p.Leu49Ter)
Xg.32310229delCA913190435DMDc.818del (p.Leu273TrpfsTer11)
c.5972del (p.Leu1991TrpfsTer11)
c.1940del (p.Leu647TrpfsTer11)
c.5960del (p.Leu1987TrpfsTer11)
n.336-93164del
c.5948del (p.Leu1983TrpfsTer11)
c.5603del (p.Leu1868TrpfsTer11)
c.1949del (p.Leu650TrpfsTer11)
c.5843del (p.Leu1948TrpfsTer11)
c.5834del (p.Leu1945TrpfsTer11)
c.5849del (p.Leu1950TrpfsTer11)
c.146del (p.Leu49TrpfsTer11)
 ClinVar dbSNP
Xg.32310228A>CCA412670008DMDc.817T>G (p.Leu273Val)
c.5971T>G (p.Leu1991Val)
c.1939T>G (p.Leu647Val)
c.5959T>G (p.Leu1987Val)
n.336-93165T>G
c.5947T>G (p.Leu1983Val)
c.5602T>G (p.Leu1868Val)
c.1948T>G (p.Leu650Val)
c.5842T>G (p.Leu1948Val)
c.5833T>G (p.Leu1945Val)
c.5848T>G (p.Leu1950Val)
c.145T>G (p.Leu49Val)
Xg.32310228A>GCA515863276DMDc.817T>C (p.Leu273=)
c.5971T>C (p.Leu1991=)
c.1939T>C (p.Leu647=)
c.5959T>C (p.Leu1987=)
n.336-93165T>C
c.5947T>C (p.Leu1983=)
c.5602T>C (p.Leu1868=)
c.1948T>C (p.Leu650=)
c.5842T>C (p.Leu1948=)
c.5833T>C (p.Leu1945=)
c.5848T>C (p.Leu1950=)
c.145T>C (p.Leu49=)
Xg.32310228A>TCA412670010DMDc.817T>A (p.Leu273Met)
c.5971T>A (p.Leu1991Met)
c.1939T>A (p.Leu647Met)
c.5959T>A (p.Leu1987Met)
n.336-93165T>A
c.5947T>A (p.Leu1983Met)
c.5602T>A (p.Leu1868Met)
c.1948T>A (p.Leu650Met)
c.5842T>A (p.Leu1948Met)
c.5833T>A (p.Leu1945Met)
c.5848T>A (p.Leu1950Met)
c.145T>A (p.Leu49Met)
Xg.32310229A>CCA515863277DMDc.816T>G (p.Pro272=)
c.5970T>G (p.Pro1990=)
c.1938T>G (p.Pro646=)
c.5958T>G (p.Pro1986=)
n.336-93166T>G
c.5946T>G (p.Pro1982=)
c.5601T>G (p.Pro1867=)
c.1947T>G (p.Pro649=)
c.5841T>G (p.Pro1947=)
c.5832T>G (p.Pro1944=)
c.5847T>G (p.Pro1949=)
c.144T>G (p.Pro48=)
Xg.32310229A>GCA515863279DMDc.816T>C (p.Pro272=)
c.5970T>C (p.Pro1990=)
c.1938T>C (p.Pro646=)
c.5958T>C (p.Pro1986=)
n.336-93166T>C
c.5946T>C (p.Pro1982=)
c.5601T>C (p.Pro1867=)
c.1947T>C (p.Pro649=)
c.5841T>C (p.Pro1947=)
c.5832T>C (p.Pro1944=)
c.5847T>C (p.Pro1949=)
c.144T>C (p.Pro48=)
Xg.32310229A>TCA515863278DMDc.816T>A (p.Pro272=)
c.5970T>A (p.Pro1990=)
c.1938T>A (p.Pro646=)
c.5958T>A (p.Pro1986=)
n.336-93166T>A
c.5946T>A (p.Pro1982=)
c.5601T>A (p.Pro1867=)
c.1947T>A (p.Pro649=)
c.5841T>A (p.Pro1947=)
c.5832T>A (p.Pro1944=)
c.5847T>A (p.Pro1949=)
c.144T>A (p.Pro48=)
Xg.32310230G>ACA328532036DMDc.815C>T (p.Pro272Leu)
c.5969C>T (p.Pro1990Leu)
c.1937C>T (p.Pro646Leu)
c.5957C>T (p.Pro1986Leu)
n.336-93167C>T
c.5945C>T (p.Pro1982Leu)
c.5600C>T (p.Pro1867Leu)
c.1946C>T (p.Pro649Leu)
c.5840C>T (p.Pro1947Leu)
c.5831C>T (p.Pro1944Leu)
c.5846C>T (p.Pro1949Leu)
c.143C>T (p.Pro48Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32310230G>CCA412670014DMDc.815C>G (p.Pro272Arg)
c.5969C>G (p.Pro1990Arg)
c.1937C>G (p.Pro646Arg)
c.5957C>G (p.Pro1986Arg)
n.336-93167C>G
c.5945C>G (p.Pro1982Arg)
c.5600C>G (p.Pro1867Arg)
c.1946C>G (p.Pro649Arg)
c.5840C>G (p.Pro1947Arg)
c.5831C>G (p.Pro1944Arg)
c.5846C>G (p.Pro1949Arg)
c.143C>G (p.Pro48Arg)
Xg.32310230G=CA2422745238DMDc.815C= (p.Pro272=)
c.5969C= (p.Pro1990=)
c.1937C= (p.Pro646=)
c.5957C= (p.Pro1986=)
n.336-93167C=
c.5945C= (p.Pro1982=)
c.5600C= (p.Pro1867=)
c.1946C= (p.Pro649=)
c.5840C= (p.Pro1947=)
c.5831C= (p.Pro1944=)
c.5846C= (p.Pro1949=)
c.143C= (p.Pro48=)
Xg.32310230G>TCA412670012DMDc.815C>A (p.Pro272His)
c.5969C>A (p.Pro1990His)
c.1937C>A (p.Pro646His)
c.5957C>A (p.Pro1986His)
n.336-93167C>A
c.5945C>A (p.Pro1982His)
c.5600C>A (p.Pro1867His)
c.1946C>A (p.Pro649His)
c.5840C>A (p.Pro1947His)
c.5831C>A (p.Pro1944His)
c.5846C>A (p.Pro1949His)
c.143C>A (p.Pro48His)
 COSMIC COSMIC COSMIC COSMIC
Xg.32310231G>ACA412670017DMDc.814C>T (p.Pro272Ser)
c.5968C>T (p.Pro1990Ser)
c.1936C>T (p.Pro646Ser)
c.5956C>T (p.Pro1986Ser)
n.336-93168C>T
c.5944C>T (p.Pro1982Ser)
c.5599C>T (p.Pro1867Ser)
c.1945C>T (p.Pro649Ser)
c.5839C>T (p.Pro1947Ser)
c.5830C>T (p.Pro1944Ser)
c.5845C>T (p.Pro1949Ser)
c.142C>T (p.Pro48Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32310231G>CCA412670018DMDc.814C>G (p.Pro272Ala)
c.5968C>G (p.Pro1990Ala)
c.1936C>G (p.Pro646Ala)
c.5956C>G (p.Pro1986Ala)
n.336-93168C>G
c.5944C>G (p.Pro1982Ala)
c.5599C>G (p.Pro1867Ala)
c.1945C>G (p.Pro649Ala)
c.5839C>G (p.Pro1947Ala)
c.5830C>G (p.Pro1944Ala)
c.5845C>G (p.Pro1949Ala)
c.142C>G (p.Pro48Ala)
Xg.32310231G=CA2422745239DMDc.814C= (p.Pro272=)
c.5968C= (p.Pro1990=)
c.1936C= (p.Pro646=)
c.5956C= (p.Pro1986=)
n.336-93168C=
c.5944C= (p.Pro1982=)
c.5599C= (p.Pro1867=)
c.1945C= (p.Pro649=)
c.5839C= (p.Pro1947=)
c.5830C= (p.Pro1944=)
c.5845C= (p.Pro1949=)
c.142C= (p.Pro48=)
Xg.32310231G>TCA412670020DMDc.814C>A (p.Pro272Thr)
c.5968C>A (p.Pro1990Thr)
c.1936C>A (p.Pro646Thr)
c.5956C>A (p.Pro1986Thr)
n.336-93168C>A
c.5944C>A (p.Pro1982Thr)
c.5599C>A (p.Pro1867Thr)
c.1945C>A (p.Pro649Thr)
c.5839C>A (p.Pro1947Thr)
c.5830C>A (p.Pro1944Thr)
c.5845C>A (p.Pro1949Thr)
c.142C>A (p.Pro48Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310232C>ACA412670023DMDc.813G>T (p.Met271Ile)
c.5967G>T (p.Met1989Ile)
c.1935G>T (p.Met645Ile)
c.5955G>T (p.Met1985Ile)
n.336-93169G>T
c.5943G>T (p.Met1981Ile)
c.5598G>T (p.Met1866Ile)
c.1944G>T (p.Met648Ile)
c.5838G>T (p.Met1946Ile)
c.5829G>T (p.Met1943Ile)
c.5844G>T (p.Met1948Ile)
c.141G>T (p.Met47Ile)
Xg.32310232C=CA2422745240DMDc.813G= (p.Met271=)
c.5967G= (p.Met1989=)
c.1935G= (p.Met645=)
c.5955G= (p.Met1985=)
n.336-93169G=
c.5943G= (p.Met1981=)
c.5598G= (p.Met1866=)
c.1944G= (p.Met648=)
c.5838G= (p.Met1946=)
c.5829G= (p.Met1943=)
c.5844G= (p.Met1948=)
c.141G= (p.Met47=)
Xg.32310232C>GCA412670025DMDc.813G>C (p.Met271Ile)
c.5967G>C (p.Met1989Ile)
c.1935G>C (p.Met645Ile)
c.5955G>C (p.Met1985Ile)
n.336-93169G>C
c.5943G>C (p.Met1981Ile)
c.5598G>C (p.Met1866Ile)
c.1944G>C (p.Met648Ile)
c.5838G>C (p.Met1946Ile)
c.5829G>C (p.Met1943Ile)
c.5844G>C (p.Met1948Ile)
c.141G>C (p.Met47Ile)
Xg.32310232C>TCA412670027DMDc.813G>A (p.Met271Ile)
c.5967G>A (p.Met1989Ile)
c.1935G>A (p.Met645Ile)
c.5955G>A (p.Met1985Ile)
n.336-93169G>A
c.5943G>A (p.Met1981Ile)
c.5598G>A (p.Met1866Ile)
c.1944G>A (p.Met648Ile)
c.5838G>A (p.Met1946Ile)
c.5829G>A (p.Met1943Ile)
c.5844G>A (p.Met1948Ile)
c.141G>A (p.Met47Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.32310233_32310237delCA2695233302DMDc.809_813del (p.Asp270AlafsTer14)
c.5963_5967del (p.Asp1988AlafsTer14)
c.1931_1935del (p.Asp644AlafsTer14)
c.5951_5955del (p.Asp1984AlafsTer14)
n.336-93173_336-93169del
c.5939_5943del (p.Asp1980AlafsTer14)
c.5594_5598del (p.Asp1865AlafsTer14)
c.1940_1944del (p.Asp647AlafsTer14)
c.5834_5838del (p.Asp1945AlafsTer14)
c.5825_5829del (p.Asp1942AlafsTer14)
c.5840_5844del (p.Asp1947AlafsTer14)
c.137_141del (p.Asp46AlafsTer14)
Xg.32310233A>CCA412670032DMDc.812T>G (p.Met271Arg)
c.5966T>G (p.Met1989Arg)
c.1934T>G (p.Met645Arg)
c.5954T>G (p.Met1985Arg)
n.336-93170T>G
c.5942T>G (p.Met1981Arg)
c.5597T>G (p.Met1866Arg)
c.1943T>G (p.Met648Arg)
c.5837T>G (p.Met1946Arg)
c.5828T>G (p.Met1943Arg)
c.5843T>G (p.Met1948Arg)
c.140T>G (p.Met47Arg)
Xg.32310233A>GCA412670028DMDc.812T>C (p.Met271Thr)
c.5966T>C (p.Met1989Thr)
c.1934T>C (p.Met645Thr)
c.5954T>C (p.Met1985Thr)
n.336-93170T>C
c.5942T>C (p.Met1981Thr)
c.5597T>C (p.Met1866Thr)
c.1943T>C (p.Met648Thr)
c.5837T>C (p.Met1946Thr)
c.5828T>C (p.Met1943Thr)
c.5843T>C (p.Met1948Thr)
c.140T>C (p.Met47Thr)
Xg.32310233A>TCA412670030DMDc.812T>A (p.Met271Lys)
c.5966T>A (p.Met1989Lys)
c.1934T>A (p.Met645Lys)
c.5954T>A (p.Met1985Lys)
n.336-93170T>A
c.5942T>A (p.Met1981Lys)
c.5597T>A (p.Met1866Lys)
c.1943T>A (p.Met648Lys)
c.5837T>A (p.Met1946Lys)
c.5828T>A (p.Met1943Lys)
c.5843T>A (p.Met1948Lys)
c.140T>A (p.Met47Lys)
Xg.32310234T>ACA412670033DMDc.811A>T (p.Met271Leu)
c.5965A>T (p.Met1989Leu)
c.1933A>T (p.Met645Leu)
c.5953A>T (p.Met1985Leu)
n.336-93171A>T
c.5941A>T (p.Met1981Leu)
c.5596A>T (p.Met1866Leu)
c.1942A>T (p.Met648Leu)
c.5836A>T (p.Met1946Leu)
c.5827A>T (p.Met1943Leu)
c.5842A>T (p.Met1948Leu)
c.139A>T (p.Met47Leu)
Xg.32310234T>CCA412670034DMDc.811A>G (p.Met271Val)
c.5965A>G (p.Met1989Val)
c.1933A>G (p.Met645Val)
c.5953A>G (p.Met1985Val)
n.336-93171A>G
c.5941A>G (p.Met1981Val)
c.5596A>G (p.Met1866Val)
c.1942A>G (p.Met648Val)
c.5836A>G (p.Met1946Val)
c.5827A>G (p.Met1943Val)
c.5842A>G (p.Met1948Val)
c.139A>G (p.Met47Val)
Xg.32310234T>GCA412670036DMDc.811A>C (p.Met271Leu)
c.5965A>C (p.Met1989Leu)
c.1933A>C (p.Met645Leu)
c.5953A>C (p.Met1985Leu)
n.336-93171A>C
c.5941A>C (p.Met1981Leu)
c.5596A>C (p.Met1866Leu)
c.1942A>C (p.Met648Leu)
c.5836A>C (p.Met1946Leu)
c.5827A>C (p.Met1943Leu)
c.5842A>C (p.Met1948Leu)
c.139A>C (p.Met47Leu)
Xg.32310235G>ACA10654306DMDc.810C>T (p.Asp270=)
c.5964C>T (p.Asp1988=)
c.1932C>T (p.Asp644=)
c.5952C>T (p.Asp1984=)
n.336-93172C>T
c.5940C>T (p.Asp1980=)
c.5595C>T (p.Asp1865=)
c.1941C>T (p.Asp647=)
c.5835C>T (p.Asp1945=)
c.5826C>T (p.Asp1942=)
c.5841C>T (p.Asp1947=)
c.138C>T (p.Asp46=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32310235G>CCA412670043DMDc.810C>G (p.Asp270Glu)
c.5964C>G (p.Asp1988Glu)
c.1932C>G (p.Asp644Glu)
c.5952C>G (p.Asp1984Glu)
n.336-93172C>G
c.5940C>G (p.Asp1980Glu)
c.5595C>G (p.Asp1865Glu)
c.1941C>G (p.Asp647Glu)
c.5835C>G (p.Asp1945Glu)
c.5826C>G (p.Asp1942Glu)
c.5841C>G (p.Asp1947Glu)
c.138C>G (p.Asp46Glu)
Xg.32310235G=CA2422745241DMDc.810C= (p.Asp270=)
c.5964C= (p.Asp1988=)
c.1932C= (p.Asp644=)
c.5952C= (p.Asp1984=)
n.336-93172C=
c.5940C= (p.Asp1980=)
c.5595C= (p.Asp1865=)
c.1941C= (p.Asp647=)
c.5835C= (p.Asp1945=)
c.5826C= (p.Asp1942=)
c.5841C= (p.Asp1947=)
c.138C= (p.Asp46=)
Xg.32310235G>TCA412670044DMDc.810C>A (p.Asp270Glu)
c.5964C>A (p.Asp1988Glu)
c.1932C>A (p.Asp644Glu)
c.5952C>A (p.Asp1984Glu)
n.336-93172C>A
c.5940C>A (p.Asp1980Glu)
c.5595C>A (p.Asp1865Glu)
c.1941C>A (p.Asp647Glu)
c.5835C>A (p.Asp1945Glu)
c.5826C>A (p.Asp1942Glu)
c.5841C>A (p.Asp1947Glu)
c.138C>A (p.Asp46Glu)
Xg.32310236T>ACA412670047DMDc.809A>T (p.Asp270Val)
c.5963A>T (p.Asp1988Val)
c.1931A>T (p.Asp644Val)
c.5951A>T (p.Asp1984Val)
n.336-93173A>T
c.5939A>T (p.Asp1980Val)
c.5594A>T (p.Asp1865Val)
c.1940A>T (p.Asp647Val)
c.5834A>T (p.Asp1945Val)
c.5825A>T (p.Asp1942Val)
c.5840A>T (p.Asp1947Val)
c.137A>T (p.Asp46Val)
Xg.32310236T>CCA10378558DMDc.809A>G (p.Asp270Gly)
c.5963A>G (p.Asp1988Gly)
c.1931A>G (p.Asp644Gly)
c.5951A>G (p.Asp1984Gly)
n.336-93173A>G
c.5939A>G (p.Asp1980Gly)
c.5594A>G (p.Asp1865Gly)
c.1940A>G (p.Asp647Gly)
c.5834A>G (p.Asp1945Gly)
c.5825A>G (p.Asp1942Gly)
c.5840A>G (p.Asp1947Gly)
c.137A>G (p.Asp46Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310236T>GCA412670045DMDc.809A>C (p.Asp270Ala)
c.5963A>C (p.Asp1988Ala)
c.1931A>C (p.Asp644Ala)
c.5951A>C (p.Asp1984Ala)
n.336-93173A>C
c.5939A>C (p.Asp1980Ala)
c.5594A>C (p.Asp1865Ala)
c.1940A>C (p.Asp647Ala)
c.5834A>C (p.Asp1945Ala)
c.5825A>C (p.Asp1942Ala)
c.5840A>C (p.Asp1947Ala)
c.137A>C (p.Asp46Ala)
Xg.32310236T=CA2422745242DMDc.809A= (p.Asp270=)
c.5963A= (p.Asp1988=)
c.1931A= (p.Asp644=)
c.5951A= (p.Asp1984=)
n.336-93173A=
c.5939A= (p.Asp1980=)
c.5594A= (p.Asp1865=)
c.1940A= (p.Asp647=)
c.5834A= (p.Asp1945=)
c.5825A= (p.Asp1942=)
c.5840A= (p.Asp1947=)
c.137A= (p.Asp46=)
Xg.32310237C>ACA412670049DMDc.808G>T (p.Asp270Tyr)
c.5962G>T (p.Asp1988Tyr)
c.1930G>T (p.Asp644Tyr)
c.5950G>T (p.Asp1984Tyr)
n.336-93174G>T
c.5938G>T (p.Asp1980Tyr)
c.5593G>T (p.Asp1865Tyr)
c.1939G>T (p.Asp647Tyr)
c.5833G>T (p.Asp1945Tyr)
c.5824G>T (p.Asp1942Tyr)
c.5839G>T (p.Asp1947Tyr)
c.136G>T (p.Asp46Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310237C=CA2422745243DMDc.808G= (p.Asp270=)
c.5962G= (p.Asp1988=)
c.1930G= (p.Asp644=)
c.5950G= (p.Asp1984=)
n.336-93174G=
c.5938G= (p.Asp1980=)
c.5593G= (p.Asp1865=)
c.1939G= (p.Asp647=)
c.5833G= (p.Asp1945=)
c.5824G= (p.Asp1942=)
c.5839G= (p.Asp1947=)
c.136G= (p.Asp46=)
Xg.32310237C>GCA412670050DMDc.808G>C (p.Asp270His)
c.5962G>C (p.Asp1988His)
c.1930G>C (p.Asp644His)
c.5950G>C (p.Asp1984His)
n.336-93174G>C
c.5938G>C (p.Asp1980His)
c.5593G>C (p.Asp1865His)
c.1939G>C (p.Asp647His)
c.5833G>C (p.Asp1945His)
c.5824G>C (p.Asp1942His)
c.5839G>C (p.Asp1947His)
c.136G>C (p.Asp46His)
Xg.32310237C>TCA412670051DMDc.808G>A (p.Asp270Asn)
c.5962G>A (p.Asp1988Asn)
c.1930G>A (p.Asp644Asn)
c.5950G>A (p.Asp1984Asn)
n.336-93174G>A
c.5938G>A (p.Asp1980Asn)
c.5593G>A (p.Asp1865Asn)
c.1939G>A (p.Asp647Asn)
c.5833G>A (p.Asp1945Asn)
c.5824G>A (p.Asp1942Asn)
c.5839G>A (p.Asp1947Asn)
c.136G>A (p.Asp46Asn)
Xg.32310238T>ACA412670053DMDc.807A>T (p.Glu269Asp)
c.5961A>T (p.Glu1987Asp)
c.1929A>T (p.Glu643Asp)
c.5949A>T (p.Glu1983Asp)
n.336-93175A>T
c.5937A>T (p.Glu1979Asp)
c.5592A>T (p.Glu1864Asp)
c.1938A>T (p.Glu646Asp)
c.5832A>T (p.Glu1944Asp)
c.5823A>T (p.Glu1941Asp)
c.5838A>T (p.Glu1946Asp)
c.135A>T (p.Glu45Asp)
 dbSNP gnomAD v3 gnomAD v4
Xg.32310238T>CCA515863280DMDc.807A>G (p.Glu269=)
c.5961A>G (p.Glu1987=)
c.1929A>G (p.Glu643=)
c.5949A>G (p.Glu1983=)
n.336-93175A>G
c.5937A>G (p.Glu1979=)
c.5592A>G (p.Glu1864=)
c.1938A>G (p.Glu646=)
c.5832A>G (p.Glu1944=)
c.5823A>G (p.Glu1941=)
c.5838A>G (p.Glu1946=)
c.135A>G (p.Glu45=)
Xg.32310238T>GCA412670054DMDc.807A>C (p.Glu269Asp)
c.5961A>C (p.Glu1987Asp)
c.1929A>C (p.Glu643Asp)
c.5949A>C (p.Glu1983Asp)
n.336-93175A>C
c.5937A>C (p.Glu1979Asp)
c.5592A>C (p.Glu1864Asp)
c.1938A>C (p.Glu646Asp)
c.5832A>C (p.Glu1944Asp)
c.5823A>C (p.Glu1941Asp)
c.5838A>C (p.Glu1946Asp)
c.135A>C (p.Glu45Asp)
Xg.32310238T=CA2422745244DMDc.807A= (p.Glu269=)
c.5961A= (p.Glu1987=)
c.1929A= (p.Glu643=)
c.5949A= (p.Glu1983=)
n.336-93175A=
c.5937A= (p.Glu1979=)
c.5592A= (p.Glu1864=)
c.1938A= (p.Glu646=)
c.5832A= (p.Glu1944=)
c.5823A= (p.Glu1941=)
c.5838A= (p.Glu1946=)
c.135A= (p.Glu45=)
Xg.32310239T>ACA412670060DMDc.806A>T (p.Glu269Val)
c.5960A>T (p.Glu1987Val)
c.1928A>T (p.Glu643Val)
c.5948A>T (p.Glu1983Val)
n.336-93176A>T
c.5936A>T (p.Glu1979Val)
c.5591A>T (p.Glu1864Val)
c.1937A>T (p.Glu646Val)
c.5831A>T (p.Glu1944Val)
c.5822A>T (p.Glu1941Val)
c.5837A>T (p.Glu1946Val)
c.134A>T (p.Glu45Val)
Xg.32310239T>CCA10378559DMDc.806A>G (p.Glu269Gly)
c.5960A>G (p.Glu1987Gly)
c.1928A>G (p.Glu643Gly)
c.5948A>G (p.Glu1983Gly)
n.336-93176A>G
c.5936A>G (p.Glu1979Gly)
c.5591A>G (p.Glu1864Gly)
c.1937A>G (p.Glu646Gly)
c.5831A>G (p.Glu1944Gly)
c.5822A>G (p.Glu1941Gly)
c.5837A>G (p.Glu1946Gly)
c.134A>G (p.Glu45Gly)
 dbSNP ExAC gnomAD v2
Xg.32310239T>GCA412670058DMDc.806A>C (p.Glu269Ala)
c.5960A>C (p.Glu1987Ala)
c.1928A>C (p.Glu643Ala)
c.5948A>C (p.Glu1983Ala)
n.336-93176A>C
c.5936A>C (p.Glu1979Ala)
c.5591A>C (p.Glu1864Ala)
c.1937A>C (p.Glu646Ala)
c.5831A>C (p.Glu1944Ala)
c.5822A>C (p.Glu1941Ala)
c.5837A>C (p.Glu1946Ala)
c.134A>C (p.Glu45Ala)
Xg.32310239T=CA2422745245DMDc.806A= (p.Glu269=)
c.5960A= (p.Glu1987=)
c.1928A= (p.Glu643=)
c.5948A= (p.Glu1983=)
n.336-93176A=
c.5936A= (p.Glu1979=)
c.5591A= (p.Glu1864=)
c.1937A= (p.Glu646=)
c.5831A= (p.Glu1944=)
c.5822A= (p.Glu1941=)
c.5837A= (p.Glu1946=)
c.134A= (p.Glu45=)
Xg.32310240C>ACA412670062DMDc.805G>T (p.Glu269Ter)
c.5959G>T (p.Glu1987Ter)
c.1927G>T (p.Glu643Ter)
c.5947G>T (p.Glu1983Ter)
n.336-93177G>T
c.5935G>T (p.Glu1979Ter)
c.5590G>T (p.Glu1864Ter)
c.1936G>T (p.Glu646Ter)
c.5830G>T (p.Glu1944Ter)
c.5821G>T (p.Glu1941Ter)
c.5836G>T (p.Glu1946Ter)
c.133G>T (p.Glu45Ter)
Xg.32310240C>GCA412670067DMDc.805G>C (p.Glu269Gln)
c.5959G>C (p.Glu1987Gln)
c.1927G>C (p.Glu643Gln)
c.5947G>C (p.Glu1983Gln)
n.336-93177G>C
c.5935G>C (p.Glu1979Gln)
c.5590G>C (p.Glu1864Gln)
c.1936G>C (p.Glu646Gln)
c.5830G>C (p.Glu1944Gln)
c.5821G>C (p.Glu1941Gln)
c.5836G>C (p.Glu1946Gln)
c.133G>C (p.Glu45Gln)
 COSMIC COSMIC COSMIC COSMIC
Xg.32310240C>TCA412670068DMDc.805G>A (p.Glu269Lys)
c.5959G>A (p.Glu1987Lys)
c.1927G>A (p.Glu643Lys)
c.5947G>A (p.Glu1983Lys)
n.336-93177G>A
c.5935G>A (p.Glu1979Lys)
c.5590G>A (p.Glu1864Lys)
c.1936G>A (p.Glu646Lys)
c.5830G>A (p.Glu1944Lys)
c.5821G>A (p.Glu1941Lys)
c.5836G>A (p.Glu1946Lys)
c.133G>A (p.Glu45Lys)
Xg.32310241delCA2695233303DMDc.804del (p.Glu269LysfsTer15)
c.5958del (p.Glu1987LysfsTer15)
c.1926del (p.Glu643LysfsTer15)
c.5946del (p.Glu1983LysfsTer15)
n.336-93178del
c.5934del (p.Glu1979LysfsTer15)
c.5589del (p.Glu1864LysfsTer15)
c.1935del (p.Glu646LysfsTer15)
c.5829del (p.Glu1944LysfsTer15)
c.5820del (p.Glu1941LysfsTer15)
c.5835del (p.Glu1946LysfsTer15)
c.132del (p.Glu45LysfsTer15)
Xg.32310241A>CCA515863281DMDc.804T>G (p.Thr268=)
c.5958T>G (p.Thr1986=)
c.1926T>G (p.Thr642=)
c.5946T>G (p.Thr1982=)
n.336-93178T>G
c.5934T>G (p.Thr1978=)
c.5589T>G (p.Thr1863=)
c.1935T>G (p.Thr645=)
c.5829T>G (p.Thr1943=)
c.5820T>G (p.Thr1940=)
c.5835T>G (p.Thr1945=)
c.132T>G (p.Thr44=)
Xg.32310241A>GCA515863282DMDc.804T>C (p.Thr268=)
c.5958T>C (p.Thr1986=)
c.1926T>C (p.Thr642=)
c.5946T>C (p.Thr1982=)
n.336-93178T>C
c.5934T>C (p.Thr1978=)
c.5589T>C (p.Thr1863=)
c.1935T>C (p.Thr645=)
c.5829T>C (p.Thr1943=)
c.5820T>C (p.Thr1940=)
c.5835T>C (p.Thr1945=)
c.132T>C (p.Thr44=)
Xg.32310241A>TCA515863283DMDc.804T>A (p.Thr268=)
c.5958T>A (p.Thr1986=)
c.1926T>A (p.Thr642=)
c.5946T>A (p.Thr1982=)
n.336-93178T>A
c.5934T>A (p.Thr1978=)
c.5589T>A (p.Thr1863=)
c.1935T>A (p.Thr645=)
c.5829T>A (p.Thr1943=)
c.5820T>A (p.Thr1940=)
c.5835T>A (p.Thr1945=)
c.132T>A (p.Thr44=)
Xg.32310242G>ACA328532037DMDc.803C>T (p.Thr268Ile)
c.5957C>T (p.Thr1986Ile)
c.1925C>T (p.Thr642Ile)
c.5945C>T (p.Thr1982Ile)
n.336-93179C>T
c.5933C>T (p.Thr1978Ile)
c.5588C>T (p.Thr1863Ile)
c.1934C>T (p.Thr645Ile)
c.5828C>T (p.Thr1943Ile)
c.5819C>T (p.Thr1940Ile)
c.5834C>T (p.Thr1945Ile)
c.131C>T (p.Thr44Ile)
 dbSNP gnomAD v4
Xg.32310242G>CCA412670071DMDc.803C>G (p.Thr268Ser)
c.5957C>G (p.Thr1986Ser)
c.1925C>G (p.Thr642Ser)
c.5945C>G (p.Thr1982Ser)
n.336-93179C>G
c.5933C>G (p.Thr1978Ser)
c.5588C>G (p.Thr1863Ser)
c.1934C>G (p.Thr645Ser)
c.5828C>G (p.Thr1943Ser)
c.5819C>G (p.Thr1940Ser)
c.5834C>G (p.Thr1945Ser)
c.131C>G (p.Thr44Ser)
 gnomAD v4
Xg.32310242G=CA2422745246DMDc.803C= (p.Thr268=)
c.5957C= (p.Thr1986=)
c.1925C= (p.Thr642=)
c.5945C= (p.Thr1982=)
n.336-93179C=
c.5933C= (p.Thr1978=)
c.5588C= (p.Thr1863=)
c.1934C= (p.Thr645=)
c.5828C= (p.Thr1943=)
c.5819C= (p.Thr1940=)
c.5834C= (p.Thr1945=)
c.131C= (p.Thr44=)
Xg.32310242G>TCA412670073DMDc.803C>A (p.Thr268Asn)
c.5957C>A (p.Thr1986Asn)
c.1925C>A (p.Thr642Asn)
c.5945C>A (p.Thr1982Asn)
n.336-93179C>A
c.5933C>A (p.Thr1978Asn)
c.5588C>A (p.Thr1863Asn)
c.1934C>A (p.Thr645Asn)
c.5828C>A (p.Thr1943Asn)
c.5819C>A (p.Thr1940Asn)
c.5834C>A (p.Thr1945Asn)
c.131C>A (p.Thr44Asn)
Xg.32310243T>ACA412670074DMDc.802A>T (p.Thr268Ser)
c.5956A>T (p.Thr1986Ser)
c.1924A>T (p.Thr642Ser)
c.5944A>T (p.Thr1982Ser)
n.336-93180A>T
c.5932A>T (p.Thr1978Ser)
c.5587A>T (p.Thr1863Ser)
c.1933A>T (p.Thr645Ser)
c.5827A>T (p.Thr1943Ser)
c.5818A>T (p.Thr1940Ser)
c.5833A>T (p.Thr1945Ser)
c.130A>T (p.Thr44Ser)
Xg.32310243T>CCA412670075DMDc.802A>G (p.Thr268Ala)
c.5956A>G (p.Thr1986Ala)
c.1924A>G (p.Thr642Ala)
c.5944A>G (p.Thr1982Ala)
n.336-93180A>G
c.5932A>G (p.Thr1978Ala)
c.5587A>G (p.Thr1863Ala)
c.1933A>G (p.Thr645Ala)
c.5827A>G (p.Thr1943Ala)
c.5818A>G (p.Thr1940Ala)
c.5833A>G (p.Thr1945Ala)
c.130A>G (p.Thr44Ala)
Xg.32310243T>GCA412670077DMDc.802A>C (p.Thr268Pro)
c.5956A>C (p.Thr1986Pro)
c.1924A>C (p.Thr642Pro)
c.5944A>C (p.Thr1982Pro)
n.336-93180A>C
c.5932A>C (p.Thr1978Pro)
c.5587A>C (p.Thr1863Pro)
c.1933A>C (p.Thr645Pro)
c.5827A>C (p.Thr1943Pro)
c.5818A>C (p.Thr1940Pro)
c.5833A>C (p.Thr1945Pro)
c.130A>C (p.Thr44Pro)
Xg.32310244C>ACA412670078DMDc.801G>T (p.Met267Ile)
c.5955G>T (p.Met1985Ile)
c.1923G>T (p.Met641Ile)
c.5943G>T (p.Met1981Ile)
n.336-93181G>T
c.5931G>T (p.Met1977Ile)
c.5586G>T (p.Met1862Ile)
c.1932G>T (p.Met644Ile)
c.5826G>T (p.Met1942Ile)
c.5817G>T (p.Met1939Ile)
c.5832G>T (p.Met1944Ile)
c.129G>T (p.Met43Ile)
Xg.32310244C=CA2422745247DMDc.801G= (p.Met267=)
c.5955G= (p.Met1985=)
c.1923G= (p.Met641=)
c.5943G= (p.Met1981=)
n.336-93181G=
c.5931G= (p.Met1977=)
c.5586G= (p.Met1862=)
c.1932G= (p.Met644=)
c.5826G= (p.Met1942=)
c.5817G= (p.Met1939=)
c.5832G= (p.Met1944=)
c.129G= (p.Met43=)
Xg.32310244C>GCA412670079DMDc.801G>C (p.Met267Ile)
c.5955G>C (p.Met1985Ile)
c.1923G>C (p.Met641Ile)
c.5943G>C (p.Met1981Ile)
n.336-93181G>C
c.5931G>C (p.Met1977Ile)
c.5586G>C (p.Met1862Ile)
c.1932G>C (p.Met644Ile)
c.5826G>C (p.Met1942Ile)
c.5817G>C (p.Met1939Ile)
c.5832G>C (p.Met1944Ile)
c.129G>C (p.Met43Ile)
Xg.32310244C>TCA412670080DMDc.801G>A (p.Met267Ile)
c.5955G>A (p.Met1985Ile)
c.1923G>A (p.Met641Ile)
c.5943G>A (p.Met1981Ile)
n.336-93181G>A
c.5931G>A (p.Met1977Ile)
c.5586G>A (p.Met1862Ile)
c.1932G>A (p.Met644Ile)
c.5826G>A (p.Met1942Ile)
c.5817G>A (p.Met1939Ile)
c.5832G>A (p.Met1944Ile)
c.129G>A (p.Met43Ile)
 dbSNP gnomAD v4
Xg.32310245A>CCA412670082DMDc.800T>G (p.Met267Arg)
c.5954T>G (p.Met1985Arg)
c.1922T>G (p.Met641Arg)
c.5942T>G (p.Met1981Arg)
n.336-93182T>G
c.5930T>G (p.Met1977Arg)
c.5585T>G (p.Met1862Arg)
c.1931T>G (p.Met644Arg)
c.5825T>G (p.Met1942Arg)
c.5816T>G (p.Met1939Arg)
c.5831T>G (p.Met1944Arg)
c.128T>G (p.Met43Arg)
Xg.32310245A>GCA412670089DMDc.800T>C (p.Met267Thr)
c.5954T>C (p.Met1985Thr)
c.1922T>C (p.Met641Thr)
c.5942T>C (p.Met1981Thr)
n.336-93182T>C
c.5930T>C (p.Met1977Thr)
c.5585T>C (p.Met1862Thr)
c.1931T>C (p.Met644Thr)
c.5825T>C (p.Met1942Thr)
c.5816T>C (p.Met1939Thr)
c.5831T>C (p.Met1944Thr)
c.128T>C (p.Met43Thr)
 gnomAD v4
Xg.32310245A>TCA412670086DMDc.800T>A (p.Met267Lys)
c.5954T>A (p.Met1985Lys)
c.1922T>A (p.Met641Lys)
c.5942T>A (p.Met1981Lys)
n.336-93182T>A
c.5930T>A (p.Met1977Lys)
c.5585T>A (p.Met1862Lys)
c.1931T>A (p.Met644Lys)
c.5825T>A (p.Met1942Lys)
c.5816T>A (p.Met1939Lys)
c.5831T>A (p.Met1944Lys)
c.128T>A (p.Met43Lys)
Xg.32310246delCA2573158664DMDc.799del (p.Met267Ter)
c.5953del (p.Met1985Ter)
c.1921del (p.Met641Ter)
c.5941del (p.Met1981Ter)
n.336-93183del
c.5929del (p.Met1977Ter)
c.5584del (p.Met1862Ter)
c.1930del (p.Met644Ter)
c.5824del (p.Met1942Ter)
c.5815del (p.Met1939Ter)
c.5830del (p.Met1944Ter)
c.127del (p.Met43Ter)
 ClinVar dbSNP
Xg.32310246T>ACA412670096DMDc.799A>T (p.Met267Leu)
c.5953A>T (p.Met1985Leu)
c.1921A>T (p.Met641Leu)
c.5941A>T (p.Met1981Leu)
n.336-93183A>T
c.5929A>T (p.Met1977Leu)
c.5584A>T (p.Met1862Leu)
c.1930A>T (p.Met644Leu)
c.5824A>T (p.Met1942Leu)
c.5815A>T (p.Met1939Leu)
c.5830A>T (p.Met1944Leu)
c.127A>T (p.Met43Leu)
Xg.32310246T>CCA10378560DMDc.799A>G (p.Met267Val)
c.5953A>G (p.Met1985Val)
c.1921A>G (p.Met641Val)
c.5941A>G (p.Met1981Val)
n.336-93183A>G
c.5929A>G (p.Met1977Val)
c.5584A>G (p.Met1862Val)
c.1930A>G (p.Met644Val)
c.5824A>G (p.Met1942Val)
c.5815A>G (p.Met1939Val)
c.5830A>G (p.Met1944Val)
c.127A>G (p.Met43Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310246T>GCA412670099DMDc.799A>C (p.Met267Leu)
c.5953A>C (p.Met1985Leu)
c.1921A>C (p.Met641Leu)
c.5941A>C (p.Met1981Leu)
n.336-93183A>C
c.5929A>C (p.Met1977Leu)
c.5584A>C (p.Met1862Leu)
c.1930A>C (p.Met644Leu)
c.5824A>C (p.Met1942Leu)
c.5815A>C (p.Met1939Leu)
c.5830A>C (p.Met1944Leu)
c.127A>C (p.Met43Leu)
Xg.32310246T=CA2422745248DMDc.799A= (p.Met267=)
c.5953A= (p.Met1985=)
c.1921A= (p.Met641=)
c.5941A= (p.Met1981=)
n.336-93183A=
c.5929A= (p.Met1977=)
c.5584A= (p.Met1862=)
c.1930A= (p.Met644=)
c.5824A= (p.Met1942=)
c.5815A= (p.Met1939=)
c.5830A= (p.Met1944=)
c.127A= (p.Met43=)
Xg.32310247C>ACA515863284DMDc.798G>T (p.Val266=)
c.5952G>T (p.Val1984=)
c.1920G>T (p.Val640=)
c.5940G>T (p.Val1980=)
n.336-93184G>T
c.5928G>T (p.Val1976=)
c.5583G>T (p.Val1861=)
c.1929G>T (p.Val643=)
c.5823G>T (p.Val1941=)
c.5814G>T (p.Val1938=)
c.5829G>T (p.Val1943=)
c.126G>T (p.Val42=)
Xg.32310247C>GCA515863286DMDc.798G>C (p.Val266=)
c.5952G>C (p.Val1984=)
c.1920G>C (p.Val640=)
c.5940G>C (p.Val1980=)
n.336-93184G>C
c.5928G>C (p.Val1976=)
c.5583G>C (p.Val1861=)
c.1929G>C (p.Val643=)
c.5823G>C (p.Val1941=)
c.5814G>C (p.Val1938=)
c.5829G>C (p.Val1943=)
c.126G>C (p.Val42=)
Xg.32310247C>TCA515863285DMDc.798G>A (p.Val266=)
c.5952G>A (p.Val1984=)
c.1920G>A (p.Val640=)
c.5940G>A (p.Val1980=)
n.336-93184G>A
c.5928G>A (p.Val1976=)
c.5583G>A (p.Val1861=)
c.1929G>A (p.Val643=)
c.5823G>A (p.Val1941=)
c.5814G>A (p.Val1938=)
c.5829G>A (p.Val1943=)
c.126G>A (p.Val42=)
 gnomAD v4
Xg.32310248A>CCA412670112DMDc.797T>G (p.Val266Gly)
c.5951T>G (p.Val1984Gly)
c.1919T>G (p.Val640Gly)
c.5939T>G (p.Val1980Gly)
n.336-93185T>G
c.5927T>G (p.Val1976Gly)
c.5582T>G (p.Val1861Gly)
c.1928T>G (p.Val643Gly)
c.5822T>G (p.Val1941Gly)
c.5813T>G (p.Val1938Gly)
c.5828T>G (p.Val1943Gly)
c.125T>G (p.Val42Gly)
Xg.32310248A>GCA412670118DMDc.797T>C (p.Val266Ala)
c.5951T>C (p.Val1984Ala)
c.1919T>C (p.Val640Ala)
c.5939T>C (p.Val1980Ala)
n.336-93185T>C
c.5927T>C (p.Val1976Ala)
c.5582T>C (p.Val1861Ala)
c.1928T>C (p.Val643Ala)
c.5822T>C (p.Val1941Ala)
c.5813T>C (p.Val1938Ala)
c.5828T>C (p.Val1943Ala)
c.125T>C (p.Val42Ala)
Xg.32310248A>TCA412670125DMDc.797T>A (p.Val266Glu)
c.5951T>A (p.Val1984Glu)
c.1919T>A (p.Val640Glu)
c.5939T>A (p.Val1980Glu)
n.336-93185T>A
c.5927T>A (p.Val1976Glu)
c.5582T>A (p.Val1861Glu)
c.1928T>A (p.Val643Glu)
c.5822T>A (p.Val1941Glu)
c.5813T>A (p.Val1938Glu)
c.5828T>A (p.Val1943Glu)
c.125T>A (p.Val42Glu)
Xg.32310249C>ACA412670129DMDc.796G>T (p.Val266Leu)
c.5950G>T (p.Val1984Leu)
c.1918G>T (p.Val640Leu)
c.5938G>T (p.Val1980Leu)
n.336-93186G>T
c.5926G>T (p.Val1976Leu)
c.5581G>T (p.Val1861Leu)
c.1927G>T (p.Val643Leu)
c.5821G>T (p.Val1941Leu)
c.5812G>T (p.Val1938Leu)
c.5827G>T (p.Val1943Leu)
c.124G>T (p.Val42Leu)
 gnomAD v4
Xg.32310249C=CA2422745249DMDc.796G= (p.Val266=)
c.5950G= (p.Val1984=)
c.1918G= (p.Val640=)
c.5938G= (p.Val1980=)
n.336-93186G=
c.5926G= (p.Val1976=)
c.5581G= (p.Val1861=)
c.1927G= (p.Val643=)
c.5821G= (p.Val1941=)
c.5812G= (p.Val1938=)
c.5827G= (p.Val1943=)
c.124G= (p.Val42=)
Xg.32310249C>GCA412670131DMDc.796G>C (p.Val266Leu)
c.5950G>C (p.Val1984Leu)
c.1918G>C (p.Val640Leu)
c.5938G>C (p.Val1980Leu)
n.336-93186G>C
c.5926G>C (p.Val1976Leu)
c.5581G>C (p.Val1861Leu)
c.1927G>C (p.Val643Leu)
c.5821G>C (p.Val1941Leu)
c.5812G>C (p.Val1938Leu)
c.5827G>C (p.Val1943Leu)
c.124G>C (p.Val42Leu)
Xg.32310249C>TCA328532038DMDc.796G>A (p.Val266Met)
c.5950G>A (p.Val1984Met)
c.1918G>A (p.Val640Met)
c.5938G>A (p.Val1980Met)
n.336-93186G>A
c.5926G>A (p.Val1976Met)
c.5581G>A (p.Val1861Met)
c.1927G>A (p.Val643Met)
c.5821G>A (p.Val1941Met)
c.5812G>A (p.Val1938Met)
c.5827G>A (p.Val1943Met)
c.124G>A (p.Val42Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310250C>ACA412670132DMDc.795G>T (p.Met265Ile)
c.5949G>T (p.Met1983Ile)
c.1917G>T (p.Met639Ile)
c.5937G>T (p.Met1979Ile)
n.336-93187G>T
c.5925G>T (p.Met1975Ile)
c.5580G>T (p.Met1860Ile)
c.1926G>T (p.Met642Ile)
c.5820G>T (p.Met1940Ile)
c.5811G>T (p.Met1937Ile)
c.5826G>T (p.Met1942Ile)
c.123G>T (p.Met41Ile)
Xg.32310250C=CA2422745250DMDc.795G= (p.Met265=)
c.5949G= (p.Met1983=)
c.1917G= (p.Met639=)
c.5937G= (p.Met1979=)
n.336-93187G=
c.5925G= (p.Met1975=)
c.5580G= (p.Met1860=)
c.1926G= (p.Met642=)
c.5820G= (p.Met1940=)
c.5811G= (p.Met1937=)
c.5826G= (p.Met1942=)
c.123G= (p.Met41=)
Xg.32310250C>GCA412670133DMDc.795G>C (p.Met265Ile)
c.5949G>C (p.Met1983Ile)
c.1917G>C (p.Met639Ile)
c.5937G>C (p.Met1979Ile)
n.336-93187G>C
c.5925G>C (p.Met1975Ile)
c.5580G>C (p.Met1860Ile)
c.1926G>C (p.Met642Ile)
c.5820G>C (p.Met1940Ile)
c.5811G>C (p.Met1937Ile)
c.5826G>C (p.Met1942Ile)
c.123G>C (p.Met41Ile)
Xg.32310250C>TCA16609175DMDc.795G>A (p.Met265Ile)
c.5949G>A (p.Met1983Ile)
c.1917G>A (p.Met639Ile)
c.5937G>A (p.Met1979Ile)
n.336-93187G>A
c.5925G>A (p.Met1975Ile)
c.5580G>A (p.Met1860Ile)
c.1926G>A (p.Met642Ile)
c.5820G>A (p.Met1940Ile)
c.5811G>A (p.Met1937Ile)
c.5826G>A (p.Met1942Ile)
c.123G>A (p.Met41Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.32310251A>CCA412670138DMDc.794T>G (p.Met265Arg)
c.5948T>G (p.Met1983Arg)
c.1916T>G (p.Met639Arg)
c.5936T>G (p.Met1979Arg)
n.336-93188T>G
c.5924T>G (p.Met1975Arg)
c.5579T>G (p.Met1860Arg)
c.1925T>G (p.Met642Arg)
c.5819T>G (p.Met1940Arg)
c.5810T>G (p.Met1937Arg)
c.5825T>G (p.Met1942Arg)
c.122T>G (p.Met41Arg)
Xg.32310251A>GCA412670141DMDc.794T>C (p.Met265Thr)
c.5948T>C (p.Met1983Thr)
c.1916T>C (p.Met639Thr)
c.5936T>C (p.Met1979Thr)
n.336-93188T>C
c.5924T>C (p.Met1975Thr)
c.5579T>C (p.Met1860Thr)
c.1925T>C (p.Met642Thr)
c.5819T>C (p.Met1940Thr)
c.5810T>C (p.Met1937Thr)
c.5825T>C (p.Met1942Thr)
c.122T>C (p.Met41Thr)
Xg.32310251A>TCA412670142DMDc.794T>A (p.Met265Lys)
c.5948T>A (p.Met1983Lys)
c.1916T>A (p.Met639Lys)
c.5936T>A (p.Met1979Lys)
n.336-93188T>A
c.5924T>A (p.Met1975Lys)
c.5579T>A (p.Met1860Lys)
c.1925T>A (p.Met642Lys)
c.5819T>A (p.Met1940Lys)
c.5810T>A (p.Met1937Lys)
c.5825T>A (p.Met1942Lys)
c.122T>A (p.Met41Lys)
Xg.32310252T>ACA412670147DMDc.793A>T (p.Met265Leu)
c.5947A>T (p.Met1983Leu)
c.1915A>T (p.Met639Leu)
c.5935A>T (p.Met1979Leu)
n.336-93189A>T
c.5923A>T (p.Met1975Leu)
c.5578A>T (p.Met1860Leu)
c.1924A>T (p.Met642Leu)
c.5818A>T (p.Met1940Leu)
c.5809A>T (p.Met1937Leu)
c.5824A>T (p.Met1942Leu)
c.121A>T (p.Met41Leu)
Xg.32310252T>CCA412670150DMDc.793A>G (p.Met265Val)
c.5947A>G (p.Met1983Val)
c.1915A>G (p.Met639Val)
c.5935A>G (p.Met1979Val)
n.336-93189A>G
c.5923A>G (p.Met1975Val)
c.5578A>G (p.Met1860Val)
c.1924A>G (p.Met642Val)
c.5818A>G (p.Met1940Val)
c.5809A>G (p.Met1937Val)
c.5824A>G (p.Met1942Val)
c.121A>G (p.Met41Val)
Xg.32310252T>GCA412670149DMDc.793A>C (p.Met265Leu)
c.5947A>C (p.Met1983Leu)
c.1915A>C (p.Met639Leu)
c.5935A>C (p.Met1979Leu)
n.336-93189A>C
c.5923A>C (p.Met1975Leu)
c.5578A>C (p.Met1860Leu)
c.1924A>C (p.Met642Leu)
c.5818A>C (p.Met1940Leu)
c.5809A>C (p.Met1937Leu)
c.5824A>C (p.Met1942Leu)
c.121A>C (p.Met41Leu)
Xg.32310253C>ACA412670151DMDc.792G>T (p.Met264Ile)
c.5946G>T (p.Met1982Ile)
c.1914G>T (p.Met638Ile)
c.5934G>T (p.Met1978Ile)
n.336-93190G>T
c.5922G>T (p.Met1974Ile)
c.5577G>T (p.Met1859Ile)
c.1923G>T (p.Met641Ile)
c.5817G>T (p.Met1939Ile)
c.5808G>T (p.Met1936Ile)
c.5823G>T (p.Met1941Ile)
c.120G>T (p.Met40Ile)
Xg.32310253C=CA2422745251DMDc.792G= (p.Met264=)
c.5946G= (p.Met1982=)
c.1914G= (p.Met638=)
c.5934G= (p.Met1978=)
n.336-93190G=
c.5922G= (p.Met1974=)
c.5577G= (p.Met1859=)
c.1923G= (p.Met641=)
c.5817G= (p.Met1939=)
c.5808G= (p.Met1936=)
c.5823G= (p.Met1941=)
c.120G= (p.Met40=)
Xg.32310253C>GCA412670153DMDc.792G>C (p.Met264Ile)
c.5946G>C (p.Met1982Ile)
c.1914G>C (p.Met638Ile)
c.5934G>C (p.Met1978Ile)
n.336-93190G>C
c.5922G>C (p.Met1974Ile)
c.5577G>C (p.Met1859Ile)
c.1923G>C (p.Met641Ile)
c.5817G>C (p.Met1939Ile)
c.5808G>C (p.Met1936Ile)
c.5823G>C (p.Met1941Ile)
c.120G>C (p.Met40Ile)
Xg.32310253C>TCA412670157DMDc.792G>A (p.Met264Ile)
c.5946G>A (p.Met1982Ile)
c.1914G>A (p.Met638Ile)
c.5934G>A (p.Met1978Ile)
n.336-93190G>A
c.5922G>A (p.Met1974Ile)
c.5577G>A (p.Met1859Ile)
c.1923G>A (p.Met641Ile)
c.5817G>A (p.Met1939Ile)
c.5808G>A (p.Met1936Ile)
c.5823G>A (p.Met1941Ile)
c.120G>A (p.Met40Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32310254delCA2830782564DMDc.791del (p.Met264ArgfsTer3)
c.5945del (p.Met1982ArgfsTer3)
c.1913del (p.Met638ArgfsTer3)
c.5933del (p.Met1978ArgfsTer3)
n.336-93191del
c.5921del (p.Met1974ArgfsTer3)
c.5576del (p.Met1859ArgfsTer3)
c.1922del (p.Met641ArgfsTer3)
c.5816del (p.Met1939ArgfsTer3)
c.5807del (p.Met1936ArgfsTer3)
c.5822del (p.Met1941ArgfsTer3)
c.119del (p.Met40ArgfsTer3)
Xg.32310254A>CCA412670159DMDc.791T>G (p.Met264Arg)
c.5945T>G (p.Met1982Arg)
c.1913T>G (p.Met638Arg)
c.5933T>G (p.Met1978Arg)
n.336-93191T>G
c.5921T>G (p.Met1974Arg)
c.5576T>G (p.Met1859Arg)
c.1922T>G (p.Met641Arg)
c.5816T>G (p.Met1939Arg)
c.5807T>G (p.Met1936Arg)
c.5822T>G (p.Met1941Arg)
c.119T>G (p.Met40Arg)
Xg.32310254A>GCA412670160DMDc.791T>C (p.Met264Thr)
c.5945T>C (p.Met1982Thr)
c.1913T>C (p.Met638Thr)
c.5933T>C (p.Met1978Thr)
n.336-93191T>C
c.5921T>C (p.Met1974Thr)
c.5576T>C (p.Met1859Thr)
c.1922T>C (p.Met641Thr)
c.5816T>C (p.Met1939Thr)
c.5807T>C (p.Met1936Thr)
c.5822T>C (p.Met1941Thr)
c.119T>C (p.Met40Thr)
Xg.32310254A>TCA412670161DMDc.791T>A (p.Met264Lys)
c.5945T>A (p.Met1982Lys)
c.1913T>A (p.Met638Lys)
c.5933T>A (p.Met1978Lys)
n.336-93191T>A
c.5921T>A (p.Met1974Lys)
c.5576T>A (p.Met1859Lys)
c.1922T>A (p.Met641Lys)
c.5816T>A (p.Met1939Lys)
c.5807T>A (p.Met1936Lys)
c.5822T>A (p.Met1941Lys)
c.119T>A (p.Met40Lys)
Xg.32310255T>ACA412670164DMDc.790A>T (p.Met264Leu)
c.5944A>T (p.Met1982Leu)
c.1912A>T (p.Met638Leu)
c.5932A>T (p.Met1978Leu)
n.336-93192A>T
c.5920A>T (p.Met1974Leu)
c.5575A>T (p.Met1859Leu)
c.1921A>T (p.Met641Leu)
c.5815A>T (p.Met1939Leu)
c.5806A>T (p.Met1936Leu)
c.5821A>T (p.Met1941Leu)
c.118A>T (p.Met40Leu)
Xg.32310255T>CCA412670165DMDc.790A>G (p.Met264Val)
c.5944A>G (p.Met1982Val)
c.1912A>G (p.Met638Val)
c.5932A>G (p.Met1978Val)
n.336-93192A>G
c.5920A>G (p.Met1974Val)
c.5575A>G (p.Met1859Val)
c.1921A>G (p.Met641Val)
c.5815A>G (p.Met1939Val)
c.5806A>G (p.Met1936Val)
c.5821A>G (p.Met1941Val)
c.118A>G (p.Met40Val)
Xg.32310255T>GCA412670169DMDc.790A>C (p.Met264Leu)
c.5944A>C (p.Met1982Leu)
c.1912A>C (p.Met638Leu)
c.5932A>C (p.Met1978Leu)
n.336-93192A>C
c.5920A>C (p.Met1974Leu)
c.5575A>C (p.Met1859Leu)
c.1921A>C (p.Met641Leu)
c.5815A>C (p.Met1939Leu)
c.5806A>C (p.Met1936Leu)
c.5821A>C (p.Met1941Leu)
c.118A>C (p.Met40Leu)
Xg.32310256C>ACA515863287DMDc.789G>T (p.Thr263=)
c.5943G>T (p.Thr1981=)
c.1911G>T (p.Thr637=)
c.5931G>T (p.Thr1977=)
n.336-93193G>T
c.5919G>T (p.Thr1973=)
c.5574G>T (p.Thr1858=)
c.1920G>T (p.Thr640=)
c.5814G>T (p.Thr1938=)
c.5805G>T (p.Thr1935=)
c.5820G>T (p.Thr1940=)
c.117G>T (p.Thr39=)
 ClinVar dbSNP gnomAD v4
Xg.32310256C=CA2422745252DMDc.789G= (p.Thr263=)
c.5943G= (p.Thr1981=)
c.1911G= (p.Thr637=)
c.5931G= (p.Thr1977=)
n.336-93193G=
c.5919G= (p.Thr1973=)
c.5574G= (p.Thr1858=)
c.1920G= (p.Thr640=)
c.5814G= (p.Thr1938=)
c.5805G= (p.Thr1935=)
c.5820G= (p.Thr1940=)
c.117G= (p.Thr39=)
Xg.32310256C>GCA515863288DMDc.789G>C (p.Thr263=)
c.5943G>C (p.Thr1981=)
c.1911G>C (p.Thr637=)
c.5931G>C (p.Thr1977=)
n.336-93193G>C
c.5919G>C (p.Thr1973=)
c.5574G>C (p.Thr1858=)
c.1920G>C (p.Thr640=)
c.5814G>C (p.Thr1938=)
c.5805G>C (p.Thr1935=)
c.5820G>C (p.Thr1940=)
c.117G>C (p.Thr39=)
Xg.32310256C>TCA10378561DMDc.789G>A (p.Thr263=)
c.5943G>A (p.Thr1981=)
c.1911G>A (p.Thr637=)
c.5931G>A (p.Thr1977=)
n.336-93193G>A
c.5919G>A (p.Thr1973=)
c.5574G>A (p.Thr1858=)
c.1920G>A (p.Thr640=)
c.5814G>A (p.Thr1938=)
c.5805G>A (p.Thr1935=)
c.5820G>A (p.Thr1940=)
c.117G>A (p.Thr39=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32310257G>ACA10378562DMDc.788C>T (p.Thr263Met)
c.5942C>T (p.Thr1981Met)
c.1910C>T (p.Thr637Met)
c.5930C>T (p.Thr1977Met)
n.336-93194C>T
c.5918C>T (p.Thr1973Met)
c.5573C>T (p.Thr1858Met)
c.1919C>T (p.Thr640Met)
c.5813C>T (p.Thr1938Met)
c.5804C>T (p.Thr1935Met)
c.5819C>T (p.Thr1940Met)
c.116C>T (p.Thr39Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32310257G>CCA10606733DMDc.788C>G (p.Thr263Arg)
c.5942C>G (p.Thr1981Arg)
c.1910C>G (p.Thr637Arg)
c.5930C>G (p.Thr1977Arg)
n.336-93194C>G
c.5918C>G (p.Thr1973Arg)
c.5573C>G (p.Thr1858Arg)
c.1919C>G (p.Thr640Arg)
c.5813C>G (p.Thr1938Arg)
c.5804C>G (p.Thr1935Arg)
c.5819C>G (p.Thr1940Arg)
c.116C>G (p.Thr39Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32310257G=CA2422745253DMDc.788C= (p.Thr263=)
c.5942C= (p.Thr1981=)
c.1910C= (p.Thr637=)
c.5930C= (p.Thr1977=)
n.336-93194C=
c.5918C= (p.Thr1973=)
c.5573C= (p.Thr1858=)
c.1919C= (p.Thr640=)
c.5813C= (p.Thr1938=)
c.5804C= (p.Thr1935=)
c.5819C= (p.Thr1940=)
c.116C= (p.Thr39=)
Xg.32310257G>TCA412670181DMDc.788C>A (p.Thr263Lys)
c.5942C>A (p.Thr1981Lys)
c.1910C>A (p.Thr637Lys)
c.5930C>A (p.Thr1977Lys)
n.336-93194C>A
c.5918C>A (p.Thr1973Lys)
c.5573C>A (p.Thr1858Lys)
c.1919C>A (p.Thr640Lys)
c.5813C>A (p.Thr1938Lys)
c.5804C>A (p.Thr1935Lys)
c.5819C>A (p.Thr1940Lys)
c.116C>A (p.Thr39Lys)
Xg.32310258T>ACA412670188DMDc.787A>T (p.Thr263Ser)
c.5941A>T (p.Thr1981Ser)
c.1909A>T (p.Thr637Ser)
c.5929A>T (p.Thr1977Ser)
n.336-93195A>T
c.5917A>T (p.Thr1973Ser)
c.5572A>T (p.Thr1858Ser)
c.1918A>T (p.Thr640Ser)
c.5812A>T (p.Thr1938Ser)
c.5803A>T (p.Thr1935Ser)
c.5818A>T (p.Thr1940Ser)
c.115A>T (p.Thr39Ser)
Xg.32310258T>CCA412670189DMDc.787A>G (p.Thr263Ala)
c.5941A>G (p.Thr1981Ala)
c.1909A>G (p.Thr637Ala)
c.5929A>G (p.Thr1977Ala)
n.336-93195A>G
c.5917A>G (p.Thr1973Ala)
c.5572A>G (p.Thr1858Ala)
c.1918A>G (p.Thr640Ala)
c.5812A>G (p.Thr1938Ala)
c.5803A>G (p.Thr1935Ala)
c.5818A>G (p.Thr1940Ala)
c.115A>G (p.Thr39Ala)
 ClinVar dbSNP
Xg.32310258T>GCA412670190DMDc.787A>C (p.Thr263Pro)
c.5941A>C (p.Thr1981Pro)
c.1909A>C (p.Thr637Pro)
c.5929A>C (p.Thr1977Pro)
n.336-93195A>C
c.5917A>C (p.Thr1973Pro)
c.5572A>C (p.Thr1858Pro)
c.1918A>C (p.Thr640Pro)
c.5812A>C (p.Thr1938Pro)
c.5803A>C (p.Thr1935Pro)
c.5818A>C (p.Thr1940Pro)
c.115A>C (p.Thr39Pro)
Xg.32310258T=CA2422745254DMDc.787A= (p.Thr263=)
c.5941A= (p.Thr1981=)
c.1909A= (p.Thr637=)
c.5929A= (p.Thr1977=)
n.336-93195A=
c.5917A= (p.Thr1973=)
c.5572A= (p.Thr1858=)
c.1918A= (p.Thr640=)
c.5812A= (p.Thr1938=)
c.5803A= (p.Thr1935=)
c.5818A= (p.Thr1940=)
c.115A= (p.Thr39=)
Xg.32310260dupCA2580100638DMDc.787dup (p.Thr263AsnfsTer7)
c.5941dup (p.Thr1981AsnfsTer7)
c.1909dup (p.Thr637AsnfsTer7)
c.5929dup (p.Thr1977AsnfsTer7)
n.336-93195dup
c.5917dup (p.Thr1973AsnfsTer7)
c.5572dup (p.Thr1858AsnfsTer7)
c.1918dup (p.Thr640AsnfsTer7)
c.5812dup (p.Thr1938AsnfsTer7)
c.5803dup (p.Thr1935AsnfsTer7)
c.5818dup (p.Thr1940AsnfsTer7)
c.115dup (p.Thr39AsnfsTer7)
 ClinVar
Xg.32310259T>ACA412670191DMDc.786A>T (p.Glu262Asp)
c.5940A>T (p.Glu1980Asp)
c.1908A>T (p.Glu636Asp)
c.5928A>T (p.Glu1976Asp)
n.336-93196A>T
c.5916A>T (p.Glu1972Asp)
c.5571A>T (p.Glu1857Asp)
c.1917A>T (p.Glu639Asp)
c.5811A>T (p.Glu1937Asp)
c.5802A>T (p.Glu1934Asp)
c.5817A>T (p.Glu1939Asp)
c.114A>T (p.Glu38Asp)
Xg.32310259T>CCA515863289DMDc.786A>G (p.Glu262=)
c.5940A>G (p.Glu1980=)
c.1908A>G (p.Glu636=)
c.5928A>G (p.Glu1976=)
n.336-93196A>G
c.5916A>G (p.Glu1972=)
c.5571A>G (p.Glu1857=)
c.1917A>G (p.Glu639=)
c.5811A>G (p.Glu1937=)
c.5802A>G (p.Glu1934=)
c.5817A>G (p.Glu1939=)
c.114A>G (p.Glu38=)
Xg.32310259T>GCA412670193DMDc.786A>C (p.Glu262Asp)
c.5940A>C (p.Glu1980Asp)
c.1908A>C (p.Glu636Asp)
c.5928A>C (p.Glu1976Asp)
n.336-93196A>C
c.5916A>C (p.Glu1972Asp)
c.5571A>C (p.Glu1857Asp)
c.1917A>C (p.Glu639Asp)
c.5811A>C (p.Glu1937Asp)
c.5802A>C (p.Glu1934Asp)
c.5817A>C (p.Glu1939Asp)
c.114A>C (p.Glu38Asp)
Xg.32310260T>ACA412670197DMDc.785A>T (p.Glu262Val)
c.5939A>T (p.Glu1980Val)
c.1907A>T (p.Glu636Val)
c.5927A>T (p.Glu1976Val)
n.336-93197A>T
c.5915A>T (p.Glu1972Val)
c.5570A>T (p.Glu1857Val)
c.1916A>T (p.Glu639Val)
c.5810A>T (p.Glu1937Val)
c.5801A>T (p.Glu1934Val)
c.5816A>T (p.Glu1939Val)
c.113A>T (p.Glu38Val)
Xg.32310260T>CCA412670200DMDc.785A>G (p.Glu262Gly)
c.5939A>G (p.Glu1980Gly)
c.1907A>G (p.Glu636Gly)
c.5927A>G (p.Glu1976Gly)
n.336-93197A>G
c.5915A>G (p.Glu1972Gly)
c.5570A>G (p.Glu1857Gly)
c.1916A>G (p.Glu639Gly)
c.5810A>G (p.Glu1937Gly)
c.5801A>G (p.Glu1934Gly)
c.5816A>G (p.Glu1939Gly)
c.113A>G (p.Glu38Gly)
Xg.32310260T>GCA412670202DMDc.785A>C (p.Glu262Ala)
c.5939A>C (p.Glu1980Ala)
c.1907A>C (p.Glu636Ala)
c.5927A>C (p.Glu1976Ala)
n.336-93197A>C
c.5915A>C (p.Glu1972Ala)
c.5570A>C (p.Glu1857Ala)
c.1916A>C (p.Glu639Ala)
c.5810A>C (p.Glu1937Ala)
c.5801A>C (p.Glu1934Ala)
c.5816A>C (p.Glu1939Ala)
c.113A>C (p.Glu38Ala)
Xg.32310261C>ACA267087DMDc.784G>T (p.Glu262Ter)
c.5938G>T (p.Glu1980Ter)
c.1906G>T (p.Glu636Ter)
c.5926G>T (p.Glu1976Ter)
n.336-93198G>T
c.5914G>T (p.Glu1972Ter)
c.5569G>T (p.Glu1857Ter)
c.1915G>T (p.Glu639Ter)
c.5809G>T (p.Glu1937Ter)
c.5800G>T (p.Glu1934Ter)
c.5815G>T (p.Glu1939Ter)
c.112G>T (p.Glu38Ter)
 ClinVar dbSNP
Xg.32310261C=CA2422745255DMDc.784G= (p.Glu262=)
c.5938G= (p.Glu1980=)
c.1906G= (p.Glu636=)
c.5926G= (p.Glu1976=)
n.336-93198G=
c.5914G= (p.Glu1972=)
c.5569G= (p.Glu1857=)
c.1915G= (p.Glu639=)
c.5809G= (p.Glu1937=)
c.5800G= (p.Glu1934=)
c.5815G= (p.Glu1939=)
c.112G= (p.Glu38=)
Xg.32310261C>GCA412670207DMDc.784G>C (p.Glu262Gln)
c.5938G>C (p.Glu1980Gln)
c.1906G>C (p.Glu636Gln)
c.5926G>C (p.Glu1976Gln)
n.336-93198G>C
c.5914G>C (p.Glu1972Gln)
c.5569G>C (p.Glu1857Gln)
c.1915G>C (p.Glu639Gln)
c.5809G>C (p.Glu1937Gln)
c.5800G>C (p.Glu1934Gln)
c.5815G>C (p.Glu1939Gln)
c.112G>C (p.Glu38Gln)
Xg.32310261C>TCA412670210DMDc.784G>A (p.Glu262Lys)
c.5938G>A (p.Glu1980Lys)
c.1906G>A (p.Glu636Lys)
c.5926G>A (p.Glu1976Lys)
n.336-93198G>A
c.5914G>A (p.Glu1972Lys)
c.5569G>A (p.Glu1857Lys)
c.1915G>A (p.Glu639Lys)
c.5809G>A (p.Glu1937Lys)
c.5800G>A (p.Glu1934Lys)
c.5815G>A (p.Glu1939Lys)
c.112G>A (p.Glu38Lys)
Xg.32310262T>ACA412670215DMDc.783A>T (p.Glu261Asp)
c.5937A>T (p.Glu1979Asp)
c.1905A>T (p.Glu635Asp)
c.5925A>T (p.Glu1975Asp)
n.336-93199A>T
c.5913A>T (p.Glu1971Asp)
c.5568A>T (p.Glu1856Asp)
c.1914A>T (p.Glu638Asp)
c.5808A>T (p.Glu1936Asp)
c.5799A>T (p.Glu1933Asp)
c.5814A>T (p.Glu1938Asp)
c.111A>T (p.Glu37Asp)
Xg.32310262T>CCA515863290DMDc.783A>G (p.Glu261=)
c.5937A>G (p.Glu1979=)
c.1905A>G (p.Glu635=)
c.5925A>G (p.Glu1975=)
n.336-93199A>G
c.5913A>G (p.Glu1971=)
c.5568A>G (p.Glu1856=)
c.1914A>G (p.Glu638=)
c.5808A>G (p.Glu1936=)
c.5799A>G (p.Glu1933=)
c.5814A>G (p.Glu1938=)
c.111A>G (p.Glu37=)
Xg.32310262T>GCA412670218DMDc.783A>C (p.Glu261Asp)
c.5937A>C (p.Glu1979Asp)
c.1905A>C (p.Glu635Asp)
c.5925A>C (p.Glu1975Asp)
n.336-93199A>C
c.5913A>C (p.Glu1971Asp)
c.5568A>C (p.Glu1856Asp)
c.1914A>C (p.Glu638Asp)
c.5808A>C (p.Glu1936Asp)
c.5799A>C (p.Glu1933Asp)
c.5814A>C (p.Glu1938Asp)
c.111A>C (p.Glu37Asp)
Xg.32310263T>ACA412670226DMDc.782A>T (p.Glu261Val)
c.5936A>T (p.Glu1979Val)
c.1904A>T (p.Glu635Val)
c.5924A>T (p.Glu1975Val)
n.336-93200A>T
c.5912A>T (p.Glu1971Val)
c.5567A>T (p.Glu1856Val)
c.1913A>T (p.Glu638Val)
c.5807A>T (p.Glu1936Val)
c.5798A>T (p.Glu1933Val)
c.5813A>T (p.Glu1938Val)
c.110A>T (p.Glu37Val)
Xg.32310263T>CCA412670223DMDc.782A>G (p.Glu261Gly)
c.5936A>G (p.Glu1979Gly)
c.1904A>G (p.Glu635Gly)
c.5924A>G (p.Glu1975Gly)
n.336-93200A>G
c.5912A>G (p.Glu1971Gly)
c.5567A>G (p.Glu1856Gly)
c.1913A>G (p.Glu638Gly)
c.5807A>G (p.Glu1936Gly)
c.5798A>G (p.Glu1933Gly)
c.5813A>G (p.Glu1938Gly)
c.110A>G (p.Glu37Gly)
Xg.32310263T>GCA412670221DMDc.782A>C (p.Glu261Ala)
c.5936A>C (p.Glu1979Ala)
c.1904A>C (p.Glu635Ala)
c.5924A>C (p.Glu1975Ala)
n.336-93200A>C
c.5912A>C (p.Glu1971Ala)
c.5567A>C (p.Glu1856Ala)
c.1913A>C (p.Glu638Ala)
c.5807A>C (p.Glu1936Ala)
c.5798A>C (p.Glu1933Ala)
c.5813A>C (p.Glu1938Ala)
c.110A>C (p.Glu37Ala)
Xg.32310264C>ACA412670229DMDc.781G>T (p.Glu261Ter)
c.5935G>T (p.Glu1979Ter)
c.1903G>T (p.Glu635Ter)
c.5923G>T (p.Glu1975Ter)
n.336-93201G>T
c.5911G>T (p.Glu1971Ter)
c.5566G>T (p.Glu1856Ter)
c.1912G>T (p.Glu638Ter)
c.5806G>T (p.Glu1936Ter)
c.5797G>T (p.Glu1933Ter)
c.5812G>T (p.Glu1938Ter)
c.109G>T (p.Glu37Ter)
Xg.32310264C>GCA412670232DMDc.781G>C (p.Glu261Gln)
c.5935G>C (p.Glu1979Gln)
c.1903G>C (p.Glu635Gln)
c.5923G>C (p.Glu1975Gln)
n.336-93201G>C
c.5911G>C (p.Glu1971Gln)
c.5566G>C (p.Glu1856Gln)
c.1912G>C (p.Glu638Gln)
c.5806G>C (p.Glu1936Gln)
c.5797G>C (p.Glu1933Gln)
c.5812G>C (p.Glu1938Gln)
c.109G>C (p.Glu37Gln)
Xg.32310264C>TCA412670243DMDc.781G>A (p.Glu261Lys)
c.5935G>A (p.Glu1979Lys)
c.1903G>A (p.Glu635Lys)
c.5923G>A (p.Glu1975Lys)
n.336-93201G>A
c.5911G>A (p.Glu1971Lys)
c.5566G>A (p.Glu1856Lys)
c.1912G>A (p.Glu638Lys)
c.5806G>A (p.Glu1936Lys)
c.5797G>A (p.Glu1933Lys)
c.5812G>A (p.Glu1938Lys)
c.109G>A (p.Glu37Lys)
 COSMIC COSMIC COSMIC COSMIC
Xg.32310265A>CCA515863291DMDc.780T>G (p.Arg260=)
c.5934T>G (p.Arg1978=)
c.1902T>G (p.Arg634=)
c.5922T>G (p.Arg1974=)
n.336-93202T>G
c.5910T>G (p.Arg1970=)
c.5565T>G (p.Arg1855=)
c.1911T>G (p.Arg637=)
c.5805T>G (p.Arg1935=)
c.5796T>G (p.Arg1932=)
c.5811T>G (p.Arg1937=)
c.108T>G (p.Arg36=)
Xg.32310265A>GCA515863292DMDc.780T>C (p.Arg260=)
c.5934T>C (p.Arg1978=)
c.1902T>C (p.Arg634=)
c.5922T>C (p.Arg1974=)
n.336-93202T>C
c.5910T>C (p.Arg1970=)
c.5565T>C (p.Arg1855=)
c.1911T>C (p.Arg637=)
c.5805T>C (p.Arg1935=)
c.5796T>C (p.Arg1932=)
c.5811T>C (p.Arg1937=)
c.108T>C (p.Arg36=)
Xg.32310265A>TCA515863293DMDc.780T>A (p.Arg260=)
c.5934T>A (p.Arg1978=)
c.1902T>A (p.Arg634=)
c.5922T>A (p.Arg1974=)
n.336-93202T>A
c.5910T>A (p.Arg1970=)
c.5565T>A (p.Arg1855=)
c.1911T>A (p.Arg637=)
c.5805T>A (p.Arg1935=)
c.5796T>A (p.Arg1932=)
c.5811T>A (p.Arg1937=)
c.108T>A (p.Arg36=)
Xg.32310266C>ACA308358DMDc.779G>T (p.Arg260Leu)
c.5933G>T (p.Arg1978Leu)
c.1901G>T (p.Arg634Leu)
c.5921G>T (p.Arg1974Leu)
n.336-93203G>T
c.5909G>T (p.Arg1970Leu)
c.5564G>T (p.Arg1855Leu)
c.1910G>T (p.Arg637Leu)
c.5804G>T (p.Arg1935Leu)
c.5795G>T (p.Arg1932Leu)
c.5810G>T (p.Arg1937Leu)
c.107G>T (p.Arg36Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310266C=CA2422745256DMDc.779G= (p.Arg260=)
c.5933G= (p.Arg1978=)
c.1901G= (p.Arg634=)
c.5921G= (p.Arg1974=)
n.336-93203G=
c.5909G= (p.Arg1970=)
c.5564G= (p.Arg1855=)
c.1910G= (p.Arg637=)
c.5804G= (p.Arg1935=)
c.5795G= (p.Arg1932=)
c.5810G= (p.Arg1937=)
c.107G= (p.Arg36=)
Xg.32310266C>GCA412670249DMDc.779G>C (p.Arg260Pro)
c.5933G>C (p.Arg1978Pro)
c.1901G>C (p.Arg634Pro)
c.5921G>C (p.Arg1974Pro)
n.336-93203G>C
c.5909G>C (p.Arg1970Pro)
c.5564G>C (p.Arg1855Pro)
c.1910G>C (p.Arg637Pro)
c.5804G>C (p.Arg1935Pro)
c.5795G>C (p.Arg1932Pro)
c.5810G>C (p.Arg1937Pro)
c.107G>C (p.Arg36Pro)
Xg.32310266C>TCA10378563DMDc.779G>A (p.Arg260His)
c.5933G>A (p.Arg1978His)
c.1901G>A (p.Arg634His)
c.5921G>A (p.Arg1974His)
n.336-93203G>A
c.5909G>A (p.Arg1970His)
c.5564G>A (p.Arg1855His)
c.1910G>A (p.Arg637His)
c.5804G>A (p.Arg1935His)
c.5795G>A (p.Arg1932His)
c.5810G>A (p.Arg1937His)
c.107G>A (p.Arg36His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32310267G>ACA412670255DMDc.778C>T (p.Arg260Cys)
c.5932C>T (p.Arg1978Cys)
c.1900C>T (p.Arg634Cys)
c.5920C>T (p.Arg1974Cys)
n.336-93204C>T
c.5908C>T (p.Arg1970Cys)
c.5563C>T (p.Arg1855Cys)
c.1909C>T (p.Arg637Cys)
c.5803C>T (p.Arg1935Cys)
c.5794C>T (p.Arg1932Cys)
c.5809C>T (p.Arg1937Cys)
c.106C>T (p.Arg36Cys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32310267G>CCA412670257DMDc.778C>G (p.Arg260Gly)
c.5932C>G (p.Arg1978Gly)
c.1900C>G (p.Arg634Gly)
c.5920C>G (p.Arg1974Gly)
n.336-93204C>G
c.5908C>G (p.Arg1970Gly)
c.5563C>G (p.Arg1855Gly)
c.1909C>G (p.Arg637Gly)
c.5803C>G (p.Arg1935Gly)
c.5794C>G (p.Arg1932Gly)
c.5809C>G (p.Arg1937Gly)
c.106C>G (p.Arg36Gly)
 ClinVar dbSNP
Xg.32310267G=CA2422745257DMDc.778C= (p.Arg260=)
c.5932C= (p.Arg1978=)
c.1900C= (p.Arg634=)
c.5920C= (p.Arg1974=)
n.336-93204C=
c.5908C= (p.Arg1970=)
c.5563C= (p.Arg1855=)
c.1909C= (p.Arg637=)
c.5803C= (p.Arg1935=)
c.5794C= (p.Arg1932=)
c.5809C= (p.Arg1937=)
c.106C= (p.Arg36=)
Xg.32310267G>TCA412670261DMDc.778C>A (p.Arg260Ser)
c.5932C>A (p.Arg1978Ser)
c.1900C>A (p.Arg634Ser)
c.5920C>A (p.Arg1974Ser)
n.336-93204C>A
c.5908C>A (p.Arg1970Ser)
c.5563C>A (p.Arg1855Ser)
c.1909C>A (p.Arg637Ser)
c.5803C>A (p.Arg1935Ser)
c.5794C>A (p.Arg1932Ser)
c.5809C>A (p.Arg1937Ser)
c.106C>A (p.Arg36Ser)
 gnomAD v4
Xg.32310268delCA2580100639DMDc.778del (p.Arg260ValfsTer5)
c.5932del (p.Arg1978ValfsTer5)
c.1900del (p.Arg634ValfsTer5)
c.5920del (p.Arg1974ValfsTer5)
n.336-93204del
c.5908del (p.Arg1970ValfsTer5)
c.5563del (p.Arg1855ValfsTer5)
c.1909del (p.Arg637ValfsTer5)
c.5803del (p.Arg1935ValfsTer5)
c.5794del (p.Arg1932ValfsTer5)
c.5809del (p.Arg1937ValfsTer5)
c.106del (p.Arg36ValfsTer5)
 ClinVar
Xg.32310268G>ACA515863294DMDc.777C>T (p.Val259=)
c.5931C>T (p.Val1977=)
c.1899C>T (p.Val633=)
c.5919C>T (p.Val1973=)
n.336-93205C>T
c.5907C>T (p.Val1969=)
c.5562C>T (p.Val1854=)
c.1908C>T (p.Val636=)
c.5802C>T (p.Val1934=)
c.5793C>T (p.Val1931=)
c.5808C>T (p.Val1936=)
c.105C>T (p.Val35=)
Xg.32310268G>CCA515863295DMDc.777C>G (p.Val259=)
c.5931C>G (p.Val1977=)
c.1899C>G (p.Val633=)
c.5919C>G (p.Val1973=)
n.336-93205C>G
c.5907C>G (p.Val1969=)
c.5562C>G (p.Val1854=)
c.1908C>G (p.Val636=)
c.5802C>G (p.Val1934=)
c.5793C>G (p.Val1931=)
c.5808C>G (p.Val1936=)
c.105C>G (p.Val35=)
Xg.32310268G>TCA515863296DMDc.777C>A (p.Val259=)
c.5931C>A (p.Val1977=)
c.1899C>A (p.Val633=)
c.5919C>A (p.Val1973=)
n.336-93205C>A
c.5907C>A (p.Val1969=)
c.5562C>A (p.Val1854=)
c.1908C>A (p.Val636=)
c.5802C>A (p.Val1934=)
c.5793C>A (p.Val1931=)
c.5808C>A (p.Val1936=)
c.105C>A (p.Val35=)
Xg.32310269A>CCA412670264DMDc.776T>G (p.Val259Gly)
c.5930T>G (p.Val1977Gly)
c.1898T>G (p.Val633Gly)
c.5918T>G (p.Val1973Gly)
n.336-93206T>G
c.5906T>G (p.Val1969Gly)
c.5561T>G (p.Val1854Gly)
c.1907T>G (p.Val636Gly)
c.5801T>G (p.Val1934Gly)
c.5792T>G (p.Val1931Gly)
c.5807T>G (p.Val1936Gly)
c.104T>G (p.Val35Gly)
Xg.32310269A>GCA412670266DMDc.776T>C (p.Val259Ala)
c.5930T>C (p.Val1977Ala)
c.1898T>C (p.Val633Ala)
c.5918T>C (p.Val1973Ala)
n.336-93206T>C
c.5906T>C (p.Val1969Ala)
c.5561T>C (p.Val1854Ala)
c.1907T>C (p.Val636Ala)
c.5801T>C (p.Val1934Ala)
c.5792T>C (p.Val1931Ala)
c.5807T>C (p.Val1936Ala)
c.104T>C (p.Val35Ala)
 gnomAD v4
Xg.32310269A>TCA412670267DMDc.776T>A (p.Val259Asp)
c.5930T>A (p.Val1977Asp)
c.1898T>A (p.Val633Asp)
c.5918T>A (p.Val1973Asp)
n.336-93206T>A
c.5906T>A (p.Val1969Asp)
c.5561T>A (p.Val1854Asp)
c.1907T>A (p.Val636Asp)
c.5801T>A (p.Val1934Asp)
c.5792T>A (p.Val1931Asp)
c.5807T>A (p.Val1936Asp)
c.104T>A (p.Val35Asp)
Xg.32310270C>ACA412670280DMDc.775G>T (p.Val259Phe)
c.5929G>T (p.Val1977Phe)
c.1897G>T (p.Val633Phe)
c.5917G>T (p.Val1973Phe)
n.336-93207G>T
c.5905G>T (p.Val1969Phe)
c.5560G>T (p.Val1854Phe)
c.1906G>T (p.Val636Phe)
c.5800G>T (p.Val1934Phe)
c.5791G>T (p.Val1931Phe)
c.5806G>T (p.Val1936Phe)
c.103G>T (p.Val35Phe)
Xg.32310270C=CA2422745258DMDc.775G= (p.Val259=)
c.5929G= (p.Val1977=)
c.1897G= (p.Val633=)
c.5917G= (p.Val1973=)
n.336-93207G=
c.5905G= (p.Val1969=)
c.5560G= (p.Val1854=)
c.1906G= (p.Val636=)
c.5800G= (p.Val1934=)
c.5791G= (p.Val1931=)
c.5806G= (p.Val1936=)
c.103G= (p.Val35=)
Xg.32310270C>GCA412670270DMDc.775G>C (p.Val259Leu)
c.5929G>C (p.Val1977Leu)
c.1897G>C (p.Val633Leu)
c.5917G>C (p.Val1973Leu)
n.336-93207G>C
c.5905G>C (p.Val1969Leu)
c.5560G>C (p.Val1854Leu)
c.1906G>C (p.Val636Leu)
c.5800G>C (p.Val1934Leu)
c.5791G>C (p.Val1931Leu)
c.5806G>C (p.Val1936Leu)
c.103G>C (p.Val35Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310270C>TCA412670268DMDc.775G>A (p.Val259Ile)
c.5929G>A (p.Val1977Ile)
c.1897G>A (p.Val633Ile)
c.5917G>A (p.Val1973Ile)
n.336-93207G>A
c.5905G>A (p.Val1969Ile)
c.5560G>A (p.Val1854Ile)
c.1906G>A (p.Val636Ile)
c.5800G>A (p.Val1934Ile)
c.5791G>A (p.Val1931Ile)
c.5806G>A (p.Val1936Ile)
c.103G>A (p.Val35Ile)
Xg.32310271A=CA2422745259DMDc.774T= (p.Thr258=)
c.5928T= (p.Thr1976=)
c.1896T= (p.Thr632=)
c.5916T= (p.Thr1972=)
n.336-93208T=
c.5904T= (p.Thr1968=)
c.5559T= (p.Thr1853=)
c.1905T= (p.Thr635=)
c.5799T= (p.Thr1933=)
c.5790T= (p.Thr1930=)
c.5805T= (p.Thr1935=)
c.102T= (p.Thr34=)
Xg.32310271A>CCA515863297DMDc.774T>G (p.Thr258=)
c.5928T>G (p.Thr1976=)
c.1896T>G (p.Thr632=)
c.5916T>G (p.Thr1972=)
n.336-93208T>G
c.5904T>G (p.Thr1968=)
c.5559T>G (p.Thr1853=)
c.1905T>G (p.Thr635=)
c.5799T>G (p.Thr1933=)
c.5790T>G (p.Thr1930=)
c.5805T>G (p.Thr1935=)
c.102T>G (p.Thr34=)
Xg.32310271A>GCA515863298DMDc.774T>C (p.Thr258=)
c.5928T>C (p.Thr1976=)
c.1896T>C (p.Thr632=)
c.5916T>C (p.Thr1972=)
n.336-93208T>C
c.5904T>C (p.Thr1968=)
c.5559T>C (p.Thr1853=)
c.1905T>C (p.Thr635=)
c.5799T>C (p.Thr1933=)
c.5790T>C (p.Thr1930=)
c.5805T>C (p.Thr1935=)
c.102T>C (p.Thr34=)
Xg.32310271A>TCA515863299DMDc.774T>A (p.Thr258=)
c.5928T>A (p.Thr1976=)
c.1896T>A (p.Thr632=)
c.5916T>A (p.Thr1972=)
n.336-93208T>A
c.5904T>A (p.Thr1968=)
c.5559T>A (p.Thr1853=)
c.1905T>A (p.Thr635=)
c.5799T>A (p.Thr1933=)
c.5790T>A (p.Thr1930=)
c.5805T>A (p.Thr1935=)
c.102T>A (p.Thr34=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.32310272G>ACA412670283DMDc.773C>T (p.Thr258Ile)
c.5927C>T (p.Thr1976Ile)
c.1895C>T (p.Thr632Ile)
c.5915C>T (p.Thr1972Ile)
n.336-93209C>T
c.5903C>T (p.Thr1968Ile)
c.5558C>T (p.Thr1853Ile)
c.1904C>T (p.Thr635Ile)
c.5798C>T (p.Thr1933Ile)
c.5789C>T (p.Thr1930Ile)
c.5804C>T (p.Thr1935Ile)
c.101C>T (p.Thr34Ile)
 gnomAD v4
Xg.32310272G>CCA412670286DMDc.773C>G (p.Thr258Ser)
c.5927C>G (p.Thr1976Ser)
c.1895C>G (p.Thr632Ser)
c.5915C>G (p.Thr1972Ser)
n.336-93209C>G
c.5903C>G (p.Thr1968Ser)
c.5558C>G (p.Thr1853Ser)
c.1904C>G (p.Thr635Ser)
c.5798C>G (p.Thr1933Ser)
c.5789C>G (p.Thr1930Ser)
c.5804C>G (p.Thr1935Ser)
c.101C>G (p.Thr34Ser)
Xg.32310272G>TCA412670285DMDc.773C>A (p.Thr258Asn)
c.5927C>A (p.Thr1976Asn)
c.1895C>A (p.Thr632Asn)
c.5915C>A (p.Thr1972Asn)
n.336-93209C>A
c.5903C>A (p.Thr1968Asn)
c.5558C>A (p.Thr1853Asn)
c.1904C>A (p.Thr635Asn)
c.5798C>A (p.Thr1933Asn)
c.5789C>A (p.Thr1930Asn)
c.5804C>A (p.Thr1935Asn)
c.101C>A (p.Thr34Asn)
Xg.32310273T>ACA412670291DMDc.772A>T (p.Thr258Ser)
c.5926A>T (p.Thr1976Ser)
c.1894A>T (p.Thr632Ser)
c.5914A>T (p.Thr1972Ser)
n.336-93210A>T
c.5902A>T (p.Thr1968Ser)
c.5557A>T (p.Thr1853Ser)
c.1903A>T (p.Thr635Ser)
c.5797A>T (p.Thr1933Ser)
c.5788A>T (p.Thr1930Ser)
c.5803A>T (p.Thr1935Ser)
c.100A>T (p.Thr34Ser)
Xg.32310273T>CCA412670297DMDc.772A>G (p.Thr258Ala)
c.5926A>G (p.Thr1976Ala)
c.1894A>G (p.Thr632Ala)
c.5914A>G (p.Thr1972Ala)
n.336-93210A>G
c.5902A>G (p.Thr1968Ala)
c.5557A>G (p.Thr1853Ala)
c.1903A>G (p.Thr635Ala)
c.5797A>G (p.Thr1933Ala)
c.5788A>G (p.Thr1930Ala)
c.5803A>G (p.Thr1935Ala)
c.100A>G (p.Thr34Ala)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.32310273T>GCA412670295DMDc.772A>C (p.Thr258Pro)
c.5926A>C (p.Thr1976Pro)
c.1894A>C (p.Thr632Pro)
c.5914A>C (p.Thr1972Pro)
n.336-93210A>C
c.5902A>C (p.Thr1968Pro)
c.5557A>C (p.Thr1853Pro)
c.1903A>C (p.Thr635Pro)
c.5797A>C (p.Thr1933Pro)
c.5788A>C (p.Thr1930Pro)
c.5803A>C (p.Thr1935Pro)
c.100A>C (p.Thr34Pro)
Xg.32310274G>ACA515863300DMDc.771C>T (p.His257=)
c.5925C>T (p.His1975=)
c.1893C>T (p.His631=)
c.5913C>T (p.His1971=)
n.336-93211C>T
c.5901C>T (p.His1967=)
c.5556C>T (p.His1852=)
c.1902C>T (p.His634=)
c.5796C>T (p.His1932=)
c.5787C>T (p.His1929=)
c.5802C>T (p.His1934=)
c.99C>T (p.His33=)
 gnomAD v4
Xg.32310274G>CCA412670300DMDc.771C>G (p.His257Gln)
c.5925C>G (p.His1975Gln)
c.1893C>G (p.His631Gln)
c.5913C>G (p.His1971Gln)
n.336-93211C>G
c.5901C>G (p.His1967Gln)
c.5556C>G (p.His1852Gln)
c.1902C>G (p.His634Gln)
c.5796C>G (p.His1932Gln)
c.5787C>G (p.His1929Gln)
c.5802C>G (p.His1934Gln)
c.99C>G (p.His33Gln)
Xg.32310274G>TCA412670304DMDc.771C>A (p.His257Gln)
c.5925C>A (p.His1975Gln)
c.1893C>A (p.His631Gln)
c.5913C>A (p.His1971Gln)
n.336-93211C>A
c.5901C>A (p.His1967Gln)
c.5556C>A (p.His1852Gln)
c.1902C>A (p.His634Gln)
c.5796C>A (p.His1932Gln)
c.5787C>A (p.His1929Gln)
c.5802C>A (p.His1934Gln)
c.99C>A (p.His33Gln)
Xg.32310275T>ACA412670306DMDc.770A>T (p.His257Leu)
c.5924A>T (p.His1975Leu)
c.1892A>T (p.His631Leu)
c.5912A>T (p.His1971Leu)
n.336-93212A>T
c.5900A>T (p.His1967Leu)
c.5555A>T (p.His1852Leu)
c.1901A>T (p.His634Leu)
c.5795A>T (p.His1932Leu)
c.5786A>T (p.His1929Leu)
c.5801A>T (p.His1934Leu)
c.98A>T (p.His33Leu)
Xg.32310275T>CCA412670307DMDc.770A>G (p.His257Arg)
c.5924A>G (p.His1975Arg)
c.1892A>G (p.His631Arg)
c.5912A>G (p.His1971Arg)
n.336-93212A>G
c.5900A>G (p.His1967Arg)
c.5555A>G (p.His1852Arg)
c.1901A>G (p.His634Arg)
c.5795A>G (p.His1932Arg)
c.5786A>G (p.His1929Arg)
c.5801A>G (p.His1934Arg)
c.98A>G (p.His33Arg)
 COSMIC COSMIC COSMIC COSMIC
Xg.32310275T>GCA412670309DMDc.770A>C (p.His257Pro)
c.5924A>C (p.His1975Pro)
c.1892A>C (p.His631Pro)
c.5912A>C (p.His1971Pro)
n.336-93212A>C
c.5900A>C (p.His1967Pro)
c.5555A>C (p.His1852Pro)
c.1901A>C (p.His634Pro)
c.5795A>C (p.His1932Pro)
c.5786A>C (p.His1929Pro)
c.5801A>C (p.His1934Pro)
c.98A>C (p.His33Pro)
Xg.32310276G>ACA412670313DMDc.769C>T (p.His257Tyr)
c.5923C>T (p.His1975Tyr)
c.1891C>T (p.His631Tyr)
c.5911C>T (p.His1971Tyr)
n.336-93213C>T
c.5899C>T (p.His1967Tyr)
c.5554C>T (p.His1852Tyr)
c.1900C>T (p.His634Tyr)
c.5794C>T (p.His1932Tyr)
c.5785C>T (p.His1929Tyr)
c.5800C>T (p.His1934Tyr)
c.97C>T (p.His33Tyr)
 dbSNP gnomAD v2 gnomAD v4
Xg.32310276G>CCA412670316DMDc.769C>G (p.His257Asp)
c.5923C>G (p.His1975Asp)
c.1891C>G (p.His631Asp)
c.5911C>G (p.His1971Asp)
n.336-93213C>G
c.5899C>G (p.His1967Asp)
c.5554C>G (p.His1852Asp)
c.1900C>G (p.His634Asp)
c.5794C>G (p.His1932Asp)
c.5785C>G (p.His1929Asp)
c.5800C>G (p.His1934Asp)
c.97C>G (p.His33Asp)
 gnomAD v4
Xg.32310276G=CA2422745260DMDc.769C= (p.His257=)
c.5923C= (p.His1975=)
c.1891C= (p.His631=)
c.5911C= (p.His1971=)
n.336-93213C=
c.5899C= (p.His1967=)
c.5554C= (p.His1852=)
c.1900C= (p.His634=)
c.5794C= (p.His1932=)
c.5785C= (p.His1929=)
c.5800C= (p.His1934=)
c.97C= (p.His33=)
Xg.32310276G>TCA412670318DMDc.769C>A (p.His257Asn)
c.5923C>A (p.His1975Asn)
c.1891C>A (p.His631Asn)
c.5911C>A (p.His1971Asn)
n.336-93213C>A
c.5899C>A (p.His1967Asn)
c.5554C>A (p.His1852Asn)
c.1900C>A (p.His634Asn)
c.5794C>A (p.His1932Asn)
c.5785C>A (p.His1929Asn)
c.5800C>A (p.His1934Asn)
c.97C>A (p.His33Asn)
Xg.32310277C>ACA412670324DMDc.769-1G>T (n.769-1G>T)
c.5923-1G>T (n.5923-1G>T)
c.1891-1G>T (n.1891-1G>T)
c.5911-1G>T (n.5911-1G>T)
n.336-93214G>T
c.5899-1G>T (n.5899-1G>T)
c.5554-1G>T (n.5554-1G>T)
c.1900-1G>T (n.1900-1G>T)
c.5794-1G>T (n.5794-1G>T)
c.5785-1G>T (n.5785-1G>T)
c.5800-1G>T (n.5800-1G>T)
c.97-1G>T (n.97-1G>T)
Xg.32310277C>GCA412670327DMDc.769-1G>C (n.769-1G>C)
c.5923-1G>C (n.5923-1G>C)
c.1891-1G>C (n.1891-1G>C)
c.5911-1G>C (n.5911-1G>C)
n.336-93214G>C
c.5899-1G>C (n.5899-1G>C)
c.5554-1G>C (n.5554-1G>C)
c.1900-1G>C (n.1900-1G>C)
c.5794-1G>C (n.5794-1G>C)
c.5785-1G>C (n.5785-1G>C)
c.5800-1G>C (n.5800-1G>C)
c.97-1G>C (n.97-1G>C)
Xg.32310277C>TCA412670328DMDc.769-1G>A (n.769-1G>A)
c.5923-1G>A (n.5923-1G>A)
c.1891-1G>A (n.1891-1G>A)
c.5911-1G>A (n.5911-1G>A)
n.336-93214G>A
c.5899-1G>A (n.5899-1G>A)
c.5554-1G>A (n.5554-1G>A)
c.1900-1G>A (n.1900-1G>A)
c.5794-1G>A (n.5794-1G>A)
c.5785-1G>A (n.5785-1G>A)
c.5800-1G>A (n.5800-1G>A)
c.97-1G>A (n.97-1G>A)
Xg.32310278T>ACA412670332DMDc.769-2A>T (n.769-2A>T)
c.5923-2A>T (n.5923-2A>T)
c.1891-2A>T (n.1891-2A>T)
c.5911-2A>T (n.5911-2A>T)
n.336-93215A>T
c.5899-2A>T (n.5899-2A>T)
c.5554-2A>T (n.5554-2A>T)
c.1900-2A>T (n.1900-2A>T)
c.5794-2A>T (n.5794-2A>T)
c.5785-2A>T (n.5785-2A>T)
c.5800-2A>T (n.5800-2A>T)
c.97-2A>T (n.97-2A>T)
 gnomAD v4
Xg.32310278T>CCA412670330DMDc.769-2A>G (n.769-2A>G)
c.5923-2A>G (n.5923-2A>G)
c.1891-2A>G (n.1891-2A>G)
c.5911-2A>G (n.5911-2A>G)
n.336-93215A>G
c.5899-2A>G (n.5899-2A>G)
c.5554-2A>G (n.5554-2A>G)
c.1900-2A>G (n.1900-2A>G)
c.5794-2A>G (n.5794-2A>G)
c.5785-2A>G (n.5785-2A>G)
c.5800-2A>G (n.5800-2A>G)
c.97-2A>G (n.97-2A>G)
Xg.32310278T>GCA412670329DMDc.769-2A>C (n.769-2A>C)
c.5923-2A>C (n.5923-2A>C)
c.1891-2A>C (n.1891-2A>C)
c.5911-2A>C (n.5911-2A>C)
n.336-93215A>C
c.5899-2A>C (n.5899-2A>C)
c.5554-2A>C (n.5554-2A>C)
c.1900-2A>C (n.1900-2A>C)
c.5794-2A>C (n.5794-2A>C)
c.5785-2A>C (n.5785-2A>C)
c.5800-2A>C (n.5800-2A>C)
c.97-2A>C (n.97-2A>C)
Xg.32310279G>ACA2693393268DMDc.769-3C>T (n.769-3C>T)
c.5923-3C>T (n.5923-3C>T)
c.1891-3C>T (n.1891-3C>T)
c.5911-3C>T (n.5911-3C>T)
n.336-93216C>T
c.5899-3C>T (n.5899-3C>T)
c.5554-3C>T (n.5554-3C>T)
c.1900-3C>T (n.1900-3C>T)
c.5794-3C>T (n.5794-3C>T)
c.5785-3C>T (n.5785-3C>T)
c.5800-3C>T (n.5800-3C>T)
c.97-3C>T (n.97-3C>T)
 gnomAD v4
Xg.32310280G>ACA2739268176DMDc.769-4C>T (n.769-4C>T)
c.5923-4C>T (n.5923-4C>T)
c.1891-4C>T (n.1891-4C>T)
c.5911-4C>T (n.5911-4C>T)
n.336-93217C>T
c.5899-4C>T (n.5899-4C>T)
c.5554-4C>T (n.5554-4C>T)
c.1900-4C>T (n.1900-4C>T)
c.5794-4C>T (n.5794-4C>T)
c.5785-4C>T (n.5785-4C>T)
c.5800-4C>T (n.5800-4C>T)
c.97-4C>T (n.97-4C>T)
 ClinVar
Xg.32310280G>CCA10378564DMDc.769-4C>G (n.769-4C>G)
c.5923-4C>G (n.5923-4C>G)
c.1891-4C>G (n.1891-4C>G)
c.5911-4C>G (n.5911-4C>G)
n.336-93217C>G
c.5899-4C>G (n.5899-4C>G)
c.5554-4C>G (n.5554-4C>G)
c.1900-4C>G (n.1900-4C>G)
c.5794-4C>G (n.5794-4C>G)
c.5785-4C>G (n.5785-4C>G)
c.5800-4C>G (n.5800-4C>G)
c.97-4C>G (n.97-4C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310280G=CA2422745261DMDc.769-4C= (n.769-4C=)
c.5923-4C= (n.5923-4C=)
c.1891-4C= (n.1891-4C=)
c.5911-4C= (n.5911-4C=)
n.336-93217C=
c.5899-4C= (n.5899-4C=)
c.5554-4C= (n.5554-4C=)
c.1900-4C= (n.1900-4C=)
c.5794-4C= (n.5794-4C=)
c.5785-4C= (n.5785-4C=)
c.5800-4C= (n.5800-4C=)
c.97-4C= (n.97-4C=)
Xg.32310281T>CCA641224653DMDc.769-5A>G (n.769-5A>G)
c.5923-5A>G (n.5923-5A>G)
c.1891-5A>G (n.1891-5A>G)
c.5911-5A>G (n.5911-5A>G)
n.336-93218A>G
c.5899-5A>G (n.5899-5A>G)
c.5554-5A>G (n.5554-5A>G)
c.1900-5A>G (n.1900-5A>G)
c.5794-5A>G (n.5794-5A>G)
c.5785-5A>G (n.5785-5A>G)
c.5800-5A>G (n.5800-5A>G)
c.97-5A>G (n.97-5A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310281T=CA2422745262DMDc.769-5A= (n.769-5A=)
c.5923-5A= (n.5923-5A=)
c.1891-5A= (n.1891-5A=)
c.5911-5A= (n.5911-5A=)
n.336-93218A=
c.5899-5A= (n.5899-5A=)
c.5554-5A= (n.5554-5A=)
c.1900-5A= (n.1900-5A=)
c.5794-5A= (n.5794-5A=)
c.5785-5A= (n.5785-5A=)
c.5800-5A= (n.5800-5A=)
c.97-5A= (n.97-5A=)
Xg.32310282A=CA2422745263DMDc.769-6T= (n.769-6T=)
c.5923-6T= (n.5923-6T=)
c.1891-6T= (n.1891-6T=)
c.5911-6T= (n.5911-6T=)
n.336-93219T=
c.5899-6T= (n.5899-6T=)
c.5554-6T= (n.5554-6T=)
c.1900-6T= (n.1900-6T=)
c.5794-6T= (n.5794-6T=)
c.5785-6T= (n.5785-6T=)
c.5800-6T= (n.5800-6T=)
c.97-6T= (n.97-6T=)
Xg.32310282A>GCA10378565DMDc.769-6T>C (n.769-6T>C)
c.5923-6T>C (n.5923-6T>C)
c.1891-6T>C (n.1891-6T>C)
c.5911-6T>C (n.5911-6T>C)
n.336-93219T>C
c.5899-6T>C (n.5899-6T>C)
c.5554-6T>C (n.5554-6T>C)
c.1900-6T>C (n.1900-6T>C)
c.5794-6T>C (n.5794-6T>C)
c.5785-6T>C (n.5785-6T>C)
c.5800-6T>C (n.5800-6T>C)
c.97-6T>C (n.97-6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310283T>CCA10378566DMDc.769-7A>G (n.769-7A>G)
c.5923-7A>G (n.5923-7A>G)
c.1891-7A>G (n.1891-7A>G)
c.5911-7A>G (n.5911-7A>G)
n.336-93220A>G
c.5899-7A>G (n.5899-7A>G)
c.5554-7A>G (n.5554-7A>G)
c.1900-7A>G (n.1900-7A>G)
c.5794-7A>G (n.5794-7A>G)
c.5785-7A>G (n.5785-7A>G)
c.5800-7A>G (n.5800-7A>G)
c.97-7A>G (n.97-7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.32310283T=CA2422745264DMDc.769-7A= (n.769-7A=)
c.5923-7A= (n.5923-7A=)
c.1891-7A= (n.1891-7A=)
c.5911-7A= (n.5911-7A=)
n.336-93220A=
c.5899-7A= (n.5899-7A=)
c.5554-7A= (n.5554-7A=)
c.1900-7A= (n.1900-7A=)
c.5794-7A= (n.5794-7A=)
c.5785-7A= (n.5785-7A=)
c.5800-7A= (n.5800-7A=)
c.97-7A= (n.97-7A=)
Xg.32310284A>GCA2573158665DMDc.769-8T>C (n.769-8T>C)
c.5923-8T>C (n.5923-8T>C)
c.1891-8T>C (n.1891-8T>C)
c.5911-8T>C (n.5911-8T>C)
n.336-93221T>C
c.5899-8T>C (n.5899-8T>C)
c.5554-8T>C (n.5554-8T>C)
c.1900-8T>C (n.1900-8T>C)
c.5794-8T>C (n.5794-8T>C)
c.5785-8T>C (n.5785-8T>C)
c.5800-8T>C (n.5800-8T>C)
c.97-8T>C (n.97-8T>C)
 ClinVar dbSNP
Xg.32310285G>CCA2580612137DMDc.769-9C>G (n.769-9C>G)
c.5923-9C>G (n.5923-9C>G)
c.1891-9C>G (n.1891-9C>G)
c.5911-9C>G (n.5911-9C>G)
n.336-93222C>G
c.5899-9C>G (n.5899-9C>G)
c.5554-9C>G (n.5554-9C>G)
c.1900-9C>G (n.1900-9C>G)
c.5794-9C>G (n.5794-9C>G)
c.5785-9C>G (n.5785-9C>G)
c.5800-9C>G (n.5800-9C>G)
c.97-9C>G (n.97-9C>G)
 ClinVar gnomAD v4
Xg.32310286A=CA2422745265DMDc.769-10T= (n.769-10T=)
c.5923-10T= (n.5923-10T=)
c.1891-10T= (n.1891-10T=)
c.5911-10T= (n.5911-10T=)
n.336-93223T=
c.5899-10T= (n.5899-10T=)
c.5554-10T= (n.5554-10T=)
c.1900-10T= (n.1900-10T=)
c.5794-10T= (n.5794-10T=)
c.5785-10T= (n.5785-10T=)
c.5800-10T= (n.5800-10T=)
c.97-10T= (n.97-10T=)
Xg.32310286A>TCA328532039DMDc.769-10T>A (n.769-10T>A)
c.5923-10T>A (n.5923-10T>A)
c.1891-10T>A (n.1891-10T>A)
c.5911-10T>A (n.5911-10T>A)
n.336-93223T>A
c.5899-10T>A (n.5899-10T>A)
c.5554-10T>A (n.5554-10T>A)
c.1900-10T>A (n.1900-10T>A)
c.5794-10T>A (n.5794-10T>A)
c.5785-10T>A (n.5785-10T>A)
c.5800-10T>A (n.5800-10T>A)
c.97-10T>A (n.97-10T>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.32310287T>CCA328532040DMDc.769-11A>G (n.769-11A>G)
c.5923-11A>G (n.5923-11A>G)
c.1891-11A>G (n.1891-11A>G)
c.5911-11A>G (n.5911-11A>G)
n.336-93224A>G
c.5899-11A>G (n.5899-11A>G)
c.5554-11A>G (n.5554-11A>G)
c.1900-11A>G (n.1900-11A>G)
c.5794-11A>G (n.5794-11A>G)
c.5785-11A>G (n.5785-11A>G)
c.5800-11A>G (n.5800-11A>G)
c.97-11A>G (n.97-11A>G)
 dbSNP gnomAD v4
Xg.32310287T=CA2422745266DMDc.769-11A= (n.769-11A=)
c.5923-11A= (n.5923-11A=)
c.1891-11A= (n.1891-11A=)
c.5911-11A= (n.5911-11A=)
n.336-93224A=
c.5899-11A= (n.5899-11A=)
c.5554-11A= (n.5554-11A=)
c.1900-11A= (n.1900-11A=)
c.5794-11A= (n.5794-11A=)
c.5785-11A= (n.5785-11A=)
c.5800-11A= (n.5800-11A=)
c.97-11A= (n.97-11A=)
Xg.32310288A>CCA2580100640DMDc.769-12T>G (n.769-12T>G)
c.5923-12T>G (n.5923-12T>G)
c.1891-12T>G (n.1891-12T>G)
c.5911-12T>G (n.5911-12T>G)
n.336-93225T>G
c.5899-12T>G (n.5899-12T>G)
c.5554-12T>G (n.5554-12T>G)
c.1900-12T>G (n.1900-12T>G)
c.5794-12T>G (n.5794-12T>G)
c.5785-12T>G (n.5785-12T>G)
c.5800-12T>G (n.5800-12T>G)
c.97-12T>G (n.97-12T>G)
 ClinVar dbSNP
Xg.32310288A>GCA2693393269DMDc.769-12T>C (n.769-12T>C)
c.5923-12T>C (n.5923-12T>C)
c.1891-12T>C (n.1891-12T>C)
c.5911-12T>C (n.5911-12T>C)
n.336-93225T>C
c.5899-12T>C (n.5899-12T>C)
c.5554-12T>C (n.5554-12T>C)
c.1900-12T>C (n.1900-12T>C)
c.5794-12T>C (n.5794-12T>C)
c.5785-12T>C (n.5785-12T>C)
c.5800-12T>C (n.5800-12T>C)
c.97-12T>C (n.97-12T>C)
 gnomAD v4
Xg.32310289T>CCA328532041DMDc.769-13A>G (n.769-13A>G)
c.5923-13A>G (n.5923-13A>G)
c.1891-13A>G (n.1891-13A>G)
c.5911-13A>G (n.5911-13A>G)
n.336-93226A>G
c.5899-13A>G (n.5899-13A>G)
c.5554-13A>G (n.5554-13A>G)
c.1900-13A>G (n.1900-13A>G)
c.5794-13A>G (n.5794-13A>G)
c.5785-13A>G (n.5785-13A>G)
c.5800-13A>G (n.5800-13A>G)
c.97-13A>G (n.97-13A>G)
 dbSNP
Xg.32310289T=CA2422745267DMDc.769-13A= (n.769-13A=)
c.5923-13A= (n.5923-13A=)
c.1891-13A= (n.1891-13A=)
c.5911-13A= (n.5911-13A=)
n.336-93226A=
c.5899-13A= (n.5899-13A=)
c.5554-13A= (n.5554-13A=)
c.1900-13A= (n.1900-13A=)
c.5794-13A= (n.5794-13A=)
c.5785-13A= (n.5785-13A=)
c.5800-13A= (n.5800-13A=)
c.97-13A= (n.97-13A=)
Xg.32310291C=CA2422745268DMDc.769-15G= (n.769-15G=)
c.5923-15G= (n.5923-15G=)
c.1891-15G= (n.1891-15G=)
c.5911-15G= (n.5911-15G=)
n.336-93228G=
c.5899-15G= (n.5899-15G=)
c.5554-15G= (n.5554-15G=)
c.1900-15G= (n.1900-15G=)
c.5794-15G= (n.5794-15G=)
c.5785-15G= (n.5785-15G=)
c.5800-15G= (n.5800-15G=)
c.97-15G= (n.97-15G=)
Xg.32310291C>TCA641224654DMDc.769-15G>A (n.769-15G>A)
c.5923-15G>A (n.5923-15G>A)
c.1891-15G>A (n.1891-15G>A)
c.5911-15G>A (n.5911-15G>A)
n.336-93228G>A
c.5899-15G>A (n.5899-15G>A)
c.5554-15G>A (n.5554-15G>A)
c.1900-15G>A (n.1900-15G>A)
c.5794-15G>A (n.5794-15G>A)
c.5785-15G>A (n.5785-15G>A)
c.5800-15G>A (n.5800-15G>A)
c.97-15G>A (n.97-15G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310294A>CCA2580100641DMDc.769-18T>G (n.769-18T>G)
c.5923-18T>G (n.5923-18T>G)
c.1891-18T>G (n.1891-18T>G)
c.5911-18T>G (n.5911-18T>G)
n.336-93231T>G
c.5899-18T>G (n.5899-18T>G)
c.5554-18T>G (n.5554-18T>G)
c.1900-18T>G (n.1900-18T>G)
c.5794-18T>G (n.5794-18T>G)
c.5785-18T>G (n.5785-18T>G)
c.5800-18T>G (n.5800-18T>G)
c.97-18T>G (n.97-18T>G)
 ClinVar gnomAD v4
Xg.32310295A=CA2422745269DMDc.769-19T= (n.769-19T=)
c.5923-19T= (n.5923-19T=)
c.1891-19T= (n.1891-19T=)
c.5911-19T= (n.5911-19T=)
n.336-93232T=
c.5899-19T= (n.5899-19T=)
c.5554-19T= (n.5554-19T=)
c.1900-19T= (n.1900-19T=)
c.5794-19T= (n.5794-19T=)
c.5785-19T= (n.5785-19T=)
c.5800-19T= (n.5800-19T=)
c.97-19T= (n.97-19T=)
Xg.32310295A>CCA641224656DMDc.769-19T>G (n.769-19T>G)
c.5923-19T>G (n.5923-19T>G)
c.1891-19T>G (n.1891-19T>G)
c.5911-19T>G (n.5911-19T>G)
n.336-93232T>G
c.5899-19T>G (n.5899-19T>G)
c.5554-19T>G (n.5554-19T>G)
c.1900-19T>G (n.1900-19T>G)
c.5794-19T>G (n.5794-19T>G)
c.5785-19T>G (n.5785-19T>G)
c.5800-19T>G (n.5800-19T>G)
c.97-19T>G (n.97-19T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.32310295A>GCA10378567DMDc.769-19T>C (n.769-19T>C)
c.5923-19T>C (n.5923-19T>C)
c.1891-19T>C (n.1891-19T>C)
c.5911-19T>C (n.5911-19T>C)
n.336-93232T>C
c.5899-19T>C (n.5899-19T>C)
c.5554-19T>C (n.5554-19T>C)
c.1900-19T>C (n.1900-19T>C)
c.5794-19T>C (n.5794-19T>C)
c.5785-19T>C (n.5785-19T>C)
c.5800-19T>C (n.5800-19T>C)
c.97-19T>C (n.97-19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched