Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.15218865C>ACA345884491NBASc.4326G>T
c.4426+13557G>T
c.851G>T
c.2196G>T
c.6340G>T (p.Gly2114Trp)
c.512+13557G>T (n.512+13557G>T)
c.3483G>T
n.6280+13557G>T
c.6211G>T (p.Gly2071Trp)
c.5701G>T (p.Gly1901Trp)
c.4141G>T (p.Gly1381Trp)
c.4132G>T (p.Gly1378Trp)
n.6266+13557G>T
2g.15218865C=CA2490796217NBASc.4326G=
c.4426+13557G=
c.851G=
c.2196G=
c.6340G= (p.Gly2114=)
c.512+13557G= (n.512+13557G=)
c.3483G=
n.6280+13557G=
c.6211G= (p.Gly2071=)
c.5701G= (p.Gly1901=)
c.4141G= (p.Gly1381=)
c.4132G= (p.Gly1378=)
n.6266+13557G=
2g.15218865C>GCA345884498NBASc.4326G>C
c.4426+13557G>C
c.851G>C
c.2196G>C
c.6340G>C (p.Gly2114Arg)
c.512+13557G>C (n.512+13557G>C)
c.3483G>C
n.6280+13557G>C
c.6211G>C (p.Gly2071Arg)
c.5701G>C (p.Gly1901Arg)
c.4141G>C (p.Gly1381Arg)
c.4132G>C (p.Gly1378Arg)
n.6266+13557G>C
 ClinVar dbSNP gnomAD v2
2g.15218865C>TCA345884507NBASc.4326G>A
c.4426+13557G>A
c.851G>A
c.2196G>A
c.6340G>A (p.Gly2114Arg)
c.512+13557G>A (n.512+13557G>A)
c.3483G>A
n.6280+13557G>A
c.6211G>A (p.Gly2071Arg)
c.5701G>A (p.Gly1901Arg)
c.4141G>A (p.Gly1381Arg)
c.4132G>A (p.Gly1378Arg)
n.6266+13557G>A
 COSMIC
2g.15218866C>ACA345884517NBASc.4325G>T
c.4426+13556G>T
c.850G>T
c.2195G>T
c.6339G>T (p.Leu2113Phe)
c.512+13556G>T (n.512+13556G>T)
c.3482G>T
n.6280+13556G>T
c.6210G>T (p.Leu2070Phe)
c.5700G>T (p.Leu1900Phe)
c.4140G>T (p.Leu1380Phe)
c.4131G>T (p.Leu1377Phe)
n.6266+13556G>T
2g.15218866C=CA2490796218NBASc.4325G=
c.4426+13556G=
c.850G=
c.2195G=
c.6339G= (p.Leu2113=)
c.512+13556G= (n.512+13556G=)
c.3482G=
n.6280+13556G=
c.6210G= (p.Leu2070=)
c.5700G= (p.Leu1900=)
c.4140G= (p.Leu1380=)
c.4131G= (p.Leu1377=)
n.6266+13556G=
2g.15218866C>GCA345884520NBASc.4325G>C
c.4426+13556G>C
c.850G>C
c.2195G>C
c.6339G>C (p.Leu2113Phe)
c.512+13556G>C (n.512+13556G>C)
c.3482G>C
n.6280+13556G>C
c.6210G>C (p.Leu2070Phe)
c.5700G>C (p.Leu1900Phe)
c.4140G>C (p.Leu1380Phe)
c.4131G>C (p.Leu1377Phe)
n.6266+13556G>C
2g.15218866C>TCA1535032NBASc.4325G>A
c.4426+13556G>A
c.850G>A
c.2195G>A
c.6339G>A (p.Leu2113=)
c.512+13556G>A (n.512+13556G>A)
c.3482G>A
n.6280+13556G>A
c.6210G>A (p.Leu2070=)
c.5700G>A (p.Leu1900=)
c.4140G>A (p.Leu1380=)
c.4131G>A (p.Leu1377=)
n.6266+13556G>A
 dbSNP ExAC gnomAD v2
2g.15218867A>CCA345884525NBASc.4324T>G
c.4426+13555T>G
c.849T>G
c.2194T>G
c.6338T>G (p.Leu2113Trp)
c.512+13555T>G (n.512+13555T>G)
c.3481T>G
n.6280+13555T>G
c.6209T>G (p.Leu2070Trp)
c.5699T>G (p.Leu1900Trp)
c.4139T>G (p.Leu1380Trp)
c.4130T>G (p.Leu1377Trp)
n.6266+13555T>G
 ClinVar dbSNP gnomAD v4
2g.15218867A>GCA345884538NBASc.4324T>C
c.4426+13555T>C
c.849T>C
c.2194T>C
c.6338T>C (p.Leu2113Ser)
c.512+13555T>C (n.512+13555T>C)
c.3481T>C
n.6280+13555T>C
c.6209T>C (p.Leu2070Ser)
c.5699T>C (p.Leu1900Ser)
c.4139T>C (p.Leu1380Ser)
c.4130T>C (p.Leu1377Ser)
n.6266+13555T>C
2g.15218867A>TCA345884533NBASc.4324T>A
c.4426+13555T>A
c.849T>A
c.2194T>A
c.6338T>A (p.Leu2113Ter)
c.512+13555T>A (n.512+13555T>A)
c.3481T>A
n.6280+13555T>A
c.6209T>A (p.Leu2070Ter)
c.5699T>A (p.Leu1900Ter)
c.4139T>A (p.Leu1380Ter)
c.4130T>A (p.Leu1377Ter)
n.6266+13555T>A
2g.15218870delCA2576680241NBASc.4324del
c.4426+13555del
c.849del
c.2194del
c.6338del (p.Leu2113TrpfsTer7)
c.512+13555del (n.512+13555del)
c.3481del
n.6280+13555del
c.6209del (p.Leu2070TrpfsTer7)
c.5699del (p.Leu1900TrpfsTer7)
c.4139del (p.Leu1380TrpfsTer7)
c.4130del (p.Leu1377TrpfsTer7)
n.6266+13555del
2g.15218868A=CA2490796219NBASc.4323T=
c.4426+13554T=
c.848T=
c.2193T=
c.6337T= (p.Leu2113=)
c.512+13554T= (n.512+13554T=)
c.3480T=
n.6280+13554T=
c.6208T= (p.Leu2070=)
c.5698T= (p.Leu1900=)
c.4138T= (p.Leu1380=)
c.4129T= (p.Leu1377=)
n.6266+13554T=
2g.15218868A>CCA345884542NBASc.4323T>G
c.4426+13554T>G
c.848T>G
c.2193T>G
c.6337T>G (p.Leu2113Val)
c.512+13554T>G (n.512+13554T>G)
c.3480T>G
n.6280+13554T>G
c.6208T>G (p.Leu2070Val)
c.5698T>G (p.Leu1900Val)
c.4138T>G (p.Leu1380Val)
c.4129T>G (p.Leu1377Val)
n.6266+13554T>G
2g.15218868A>GCA1535033NBASc.4323T>C
c.4426+13554T>C
c.848T>C
c.2193T>C
c.6337T>C (p.Leu2113=)
c.512+13554T>C (n.512+13554T>C)
c.3480T>C
n.6280+13554T>C
c.6208T>C (p.Leu2070=)
c.5698T>C (p.Leu1900=)
c.4138T>C (p.Leu1380=)
c.4129T>C (p.Leu1377=)
n.6266+13554T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15218868A>TCA345884545NBASc.4323T>A
c.4426+13554T>A
c.848T>A
c.2193T>A
c.6337T>A (p.Leu2113Met)
c.512+13554T>A (n.512+13554T>A)
c.3480T>A
n.6280+13554T>A
c.6208T>A (p.Leu2070Met)
c.5698T>A (p.Leu1900Met)
c.4138T>A (p.Leu1380Met)
c.4129T>A (p.Leu1377Met)
n.6266+13554T>A
2g.15218869A>CCA345884550NBASc.4322T>G
c.4426+13553T>G
c.847T>G
c.2192T>G
c.6336T>G (p.Ile2112Met)
c.512+13553T>G (n.512+13553T>G)
c.3479T>G
n.6280+13553T>G
c.6207T>G (p.Ile2069Met)
c.5697T>G (p.Ile1899Met)
c.4137T>G (p.Ile1379Met)
c.4128T>G (p.Ile1376Met)
n.6266+13553T>G
2g.15218869A>GCA424866948NBASc.4322T>C
c.4426+13553T>C
c.847T>C
c.2192T>C
c.6336T>C (p.Ile2112=)
c.512+13553T>C (n.512+13553T>C)
c.3479T>C
n.6280+13553T>C
c.6207T>C (p.Ile2069=)
c.5697T>C (p.Ile1899=)
c.4137T>C (p.Ile1379=)
c.4128T>C (p.Ile1376=)
n.6266+13553T>C
2g.15218869A>TCA424866949NBASc.4322T>A
c.4426+13553T>A
c.847T>A
c.2192T>A
c.6336T>A (p.Ile2112=)
c.512+13553T>A (n.512+13553T>A)
c.3479T>A
n.6280+13553T>A
c.6207T>A (p.Ile2069=)
c.5697T>A (p.Ile1899=)
c.4137T>A (p.Ile1379=)
c.4128T>A (p.Ile1376=)
n.6266+13553T>A
2g.15218870A>CCA345884551NBASc.4321T>G
c.4426+13552T>G
c.846T>G
c.2191T>G
c.6335T>G (p.Ile2112Ser)
c.512+13552T>G (n.512+13552T>G)
c.3478T>G
n.6280+13552T>G
c.6206T>G (p.Ile2069Ser)
c.5696T>G (p.Ile1899Ser)
c.4136T>G (p.Ile1379Ser)
c.4127T>G (p.Ile1376Ser)
n.6266+13552T>G
2g.15218870A>GCA345884555NBASc.4321T>C
c.4426+13552T>C
c.846T>C
c.2191T>C
c.6335T>C (p.Ile2112Thr)
c.512+13552T>C (n.512+13552T>C)
c.3478T>C
n.6280+13552T>C
c.6206T>C (p.Ile2069Thr)
c.5696T>C (p.Ile1899Thr)
c.4136T>C (p.Ile1379Thr)
c.4127T>C (p.Ile1376Thr)
n.6266+13552T>C
2g.15218870A>TCA345884557NBASc.4321T>A
c.4426+13552T>A
c.846T>A
c.2191T>A
c.6335T>A (p.Ile2112Asn)
c.512+13552T>A (n.512+13552T>A)
c.3478T>A
n.6280+13552T>A
c.6206T>A (p.Ile2069Asn)
c.5696T>A (p.Ile1899Asn)
c.4136T>A (p.Ile1379Asn)
c.4127T>A (p.Ile1376Asn)
n.6266+13552T>A
2g.15218871T>ACA345884561NBASc.4320A>T
c.4426+13551A>T
c.845A>T
c.2190A>T
c.6334A>T (p.Ile2112Phe)
c.512+13551A>T (n.512+13551A>T)
c.3477A>T
n.6280+13551A>T
c.6205A>T (p.Ile2069Phe)
c.5695A>T (p.Ile1899Phe)
c.4135A>T (p.Ile1379Phe)
c.4126A>T (p.Ile1376Phe)
n.6266+13551A>T
2g.15218871T>CCA345884562NBASc.4320A>G
c.4426+13551A>G
c.845A>G
c.2190A>G
c.6334A>G (p.Ile2112Val)
c.512+13551A>G (n.512+13551A>G)
c.3477A>G
n.6280+13551A>G
c.6205A>G (p.Ile2069Val)
c.5695A>G (p.Ile1899Val)
c.4135A>G (p.Ile1379Val)
c.4126A>G (p.Ile1376Val)
n.6266+13551A>G
2g.15218871T>GCA345884563NBASc.4320A>C
c.4426+13551A>C
c.845A>C
c.2190A>C
c.6334A>C (p.Ile2112Leu)
c.512+13551A>C (n.512+13551A>C)
c.3477A>C
n.6280+13551A>C
c.6205A>C (p.Ile2069Leu)
c.5695A>C (p.Ile1899Leu)
c.4135A>C (p.Ile1379Leu)
c.4126A>C (p.Ile1376Leu)
n.6266+13551A>C
2g.15218872C>ACA345884564NBASc.4319G>T
c.4426+13550G>T
c.844G>T
c.2189G>T
c.6333G>T (p.Gln2111His)
c.512+13550G>T (n.512+13550G>T)
c.3476G>T
n.6280+13550G>T
c.6204G>T (p.Gln2068His)
c.5694G>T (p.Gln1898His)
c.4134G>T (p.Gln1378His)
c.4125G>T (p.Gln1375His)
n.6266+13550G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218872C=CA2490796220NBASc.4319G=
c.4426+13550G=
c.844G=
c.2189G=
c.6333G= (p.Gln2111=)
c.512+13550G= (n.512+13550G=)
c.3476G=
n.6280+13550G=
c.6204G= (p.Gln2068=)
c.5694G= (p.Gln1898=)
c.4134G= (p.Gln1378=)
c.4125G= (p.Gln1375=)
n.6266+13550G=
2g.15218872C>GCA345884565NBASc.4319G>C
c.4426+13550G>C
c.844G>C
c.2189G>C
c.6333G>C (p.Gln2111His)
c.512+13550G>C (n.512+13550G>C)
c.3476G>C
n.6280+13550G>C
c.6204G>C (p.Gln2068His)
c.5694G>C (p.Gln1898His)
c.4134G>C (p.Gln1378His)
c.4125G>C (p.Gln1375His)
n.6266+13550G>C
 gnomAD v4
2g.15218872C>TCA424866950NBASc.4319G>A
c.4426+13550G>A
c.844G>A
c.2189G>A
c.6333G>A (p.Gln2111=)
c.512+13550G>A (n.512+13550G>A)
c.3476G>A
n.6280+13550G>A
c.6204G>A (p.Gln2068=)
c.5694G>A (p.Gln1898=)
c.4134G>A (p.Gln1378=)
c.4125G>A (p.Gln1375=)
n.6266+13550G>A
2g.15218873T>ACA345884566NBASc.4318A>T
c.4426+13549A>T
c.843A>T
c.2188A>T
c.6332A>T (p.Gln2111Leu)
c.512+13549A>T (n.512+13549A>T)
c.3475A>T
n.6280+13549A>T
c.6203A>T (p.Gln2068Leu)
c.5693A>T (p.Gln1898Leu)
c.4133A>T (p.Gln1378Leu)
c.4124A>T (p.Gln1375Leu)
n.6266+13549A>T
2g.15218873T>CCA345884567NBASc.4318A>G
c.4426+13549A>G
c.843A>G
c.2188A>G
c.6332A>G (p.Gln2111Arg)
c.512+13549A>G (n.512+13549A>G)
c.3475A>G
n.6280+13549A>G
c.6203A>G (p.Gln2068Arg)
c.5693A>G (p.Gln1898Arg)
c.4133A>G (p.Gln1378Arg)
c.4124A>G (p.Gln1375Arg)
n.6266+13549A>G
 dbSNP
2g.15218873T>GCA345884574NBASc.4318A>C
c.4426+13549A>C
c.843A>C
c.2188A>C
c.6332A>C (p.Gln2111Pro)
c.512+13549A>C (n.512+13549A>C)
c.3475A>C
n.6280+13549A>C
c.6203A>C (p.Gln2068Pro)
c.5693A>C (p.Gln1898Pro)
c.4133A>C (p.Gln1378Pro)
c.4124A>C (p.Gln1375Pro)
n.6266+13549A>C
2g.15218873T=CA2490796221NBASc.4318A=
c.4426+13549A=
c.843A=
c.2188A=
c.6332A= (p.Gln2111=)
c.512+13549A= (n.512+13549A=)
c.3475A=
n.6280+13549A=
c.6203A= (p.Gln2068=)
c.5693A= (p.Gln1898=)
c.4133A= (p.Gln1378=)
c.4124A= (p.Gln1375=)
n.6266+13549A=
2g.15218874G>ACA345884581NBASc.4317C>T
c.4426+13548C>T
c.842C>T
c.2187C>T
c.6331C>T (p.Gln2111Ter)
c.512+13548C>T (n.512+13548C>T)
c.3474C>T
n.6280+13548C>T
c.6202C>T (p.Gln2068Ter)
c.5692C>T (p.Gln1898Ter)
c.4132C>T (p.Gln1378Ter)
c.4123C>T (p.Gln1375Ter)
n.6266+13548C>T
 COSMIC
2g.15218874G>CCA345884584NBASc.4317C>G
c.4426+13548C>G
c.842C>G
c.2187C>G
c.6331C>G (p.Gln2111Glu)
c.512+13548C>G (n.512+13548C>G)
c.3474C>G
n.6280+13548C>G
c.6202C>G (p.Gln2068Glu)
c.5692C>G (p.Gln1898Glu)
c.4132C>G (p.Gln1378Glu)
c.4123C>G (p.Gln1375Glu)
n.6266+13548C>G
2g.15218874G=CA2490796222NBASc.4317C=
c.4426+13548C=
c.842C=
c.2187C=
c.6331C= (p.Gln2111=)
c.512+13548C= (n.512+13548C=)
c.3474C=
n.6280+13548C=
c.6202C= (p.Gln2068=)
c.5692C= (p.Gln1898=)
c.4132C= (p.Gln1378=)
c.4123C= (p.Gln1375=)
n.6266+13548C=
2g.15218874G>TCA1535034NBASc.4317C>A
c.4426+13548C>A
c.842C>A
c.2187C>A
c.6331C>A (p.Gln2111Lys)
c.512+13548C>A (n.512+13548C>A)
c.3474C>A
n.6280+13548C>A
c.6202C>A (p.Gln2068Lys)
c.5692C>A (p.Gln1898Lys)
c.4132C>A (p.Gln1378Lys)
c.4123C>A (p.Gln1375Lys)
n.6266+13548C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218875C>ACA424866953NBASc.4316G>T
c.4426+13547G>T
c.841G>T
c.2186G>T
c.6330G>T (p.Leu2110=)
c.512+13547G>T (n.512+13547G>T)
c.3473G>T
n.6280+13547G>T
c.6201G>T (p.Leu2067=)
c.5691G>T (p.Leu1897=)
c.4131G>T (p.Leu1377=)
c.4122G>T (p.Leu1374=)
n.6266+13547G>T
2g.15218875C>GCA424866952NBASc.4316G>C
c.4426+13547G>C
c.841G>C
c.2186G>C
c.6330G>C (p.Leu2110=)
c.512+13547G>C (n.512+13547G>C)
c.3473G>C
n.6280+13547G>C
c.6201G>C (p.Leu2067=)
c.5691G>C (p.Leu1897=)
c.4131G>C (p.Leu1377=)
c.4122G>C (p.Leu1374=)
n.6266+13547G>C
2g.15218875C>TCA424866951NBASc.4316G>A
c.4426+13547G>A
c.841G>A
c.2186G>A
c.6330G>A (p.Leu2110=)
c.512+13547G>A (n.512+13547G>A)
c.3473G>A
n.6280+13547G>A
c.6201G>A (p.Leu2067=)
c.5691G>A (p.Leu1897=)
c.4131G>A (p.Leu1377=)
c.4122G>A (p.Leu1374=)
n.6266+13547G>A
2g.15218876A>CCA345884601NBASc.4315T>G
c.4426+13546T>G
c.840T>G
c.2185T>G
c.6329T>G (p.Leu2110Arg)
c.512+13546T>G (n.512+13546T>G)
c.3472T>G
n.6280+13546T>G
c.6200T>G (p.Leu2067Arg)
c.5690T>G (p.Leu1897Arg)
c.4130T>G (p.Leu1377Arg)
c.4121T>G (p.Leu1374Arg)
n.6266+13546T>G
2g.15218876A>GCA345884604NBASc.4315T>C
c.4426+13546T>C
c.840T>C
c.2185T>C
c.6329T>C (p.Leu2110Pro)
c.512+13546T>C (n.512+13546T>C)
c.3472T>C
n.6280+13546T>C
c.6200T>C (p.Leu2067Pro)
c.5690T>C (p.Leu1897Pro)
c.4130T>C (p.Leu1377Pro)
c.4121T>C (p.Leu1374Pro)
n.6266+13546T>C
2g.15218876A>TCA345884609NBASc.4315T>A
c.4426+13546T>A
c.840T>A
c.2185T>A
c.6329T>A (p.Leu2110Gln)
c.512+13546T>A (n.512+13546T>A)
c.3472T>A
n.6280+13546T>A
c.6200T>A (p.Leu2067Gln)
c.5690T>A (p.Leu1897Gln)
c.4130T>A (p.Leu1377Gln)
c.4121T>A (p.Leu1374Gln)
n.6266+13546T>A
2g.15218877G>ACA424866954NBASc.4314C>T
c.4426+13545C>T
c.839C>T
c.2184C>T
c.6328C>T (p.Leu2110=)
c.512+13545C>T (n.512+13545C>T)
c.3471C>T
n.6280+13545C>T
c.6199C>T (p.Leu2067=)
c.5689C>T (p.Leu1897=)
c.4129C>T (p.Leu1377=)
c.4120C>T (p.Leu1374=)
n.6266+13545C>T
 gnomAD v4
2g.15218877G>CCA345884613NBASc.4314C>G
c.4426+13545C>G
c.839C>G
c.2184C>G
c.6328C>G (p.Leu2110Val)
c.512+13545C>G (n.512+13545C>G)
c.3471C>G
n.6280+13545C>G
c.6199C>G (p.Leu2067Val)
c.5689C>G (p.Leu1897Val)
c.4129C>G (p.Leu1377Val)
c.4120C>G (p.Leu1374Val)
n.6266+13545C>G
2g.15218877G>TCA345884624NBASc.4314C>A
c.4426+13545C>A
c.839C>A
c.2184C>A
c.6328C>A (p.Leu2110Met)
c.512+13545C>A (n.512+13545C>A)
c.3471C>A
n.6280+13545C>A
c.6199C>A (p.Leu2067Met)
c.5689C>A (p.Leu1897Met)
c.4129C>A (p.Leu1377Met)
c.4120C>A (p.Leu1374Met)
n.6266+13545C>A
2g.15218878C>ACA424866955NBASc.4313G>T
c.4426+13544G>T
c.838G>T
c.2183G>T
c.6327G>T (p.Val2109=)
c.512+13544G>T (n.512+13544G>T)
c.3470G>T
n.6280+13544G>T
c.6198G>T (p.Val2066=)
c.5688G>T (p.Val1896=)
c.4128G>T (p.Val1376=)
c.4119G>T (p.Val1373=)
n.6266+13544G>T
2g.15218878C=CA2490796223NBASc.4313G=
c.4426+13544G=
c.838G=
c.2183G=
c.6327G= (p.Val2109=)
c.512+13544G= (n.512+13544G=)
c.3470G=
n.6280+13544G=
c.6198G= (p.Val2066=)
c.5688G= (p.Val1896=)
c.4128G= (p.Val1376=)
c.4119G= (p.Val1373=)
n.6266+13544G=
2g.15218878C>GCA424866956NBASc.4313G>C
c.4426+13544G>C
c.838G>C
c.2183G>C
c.6327G>C (p.Val2109=)
c.512+13544G>C (n.512+13544G>C)
c.3470G>C
n.6280+13544G>C
c.6198G>C (p.Val2066=)
c.5688G>C (p.Val1896=)
c.4128G>C (p.Val1376=)
c.4119G>C (p.Val1373=)
n.6266+13544G>C
2g.15218878C>TCA1535035NBASc.4313G>A
c.4426+13544G>A
c.838G>A
c.2183G>A
c.6327G>A (p.Val2109=)
c.512+13544G>A (n.512+13544G>A)
c.3470G>A
n.6280+13544G>A
c.6198G>A (p.Val2066=)
c.5688G>A (p.Val1896=)
c.4128G>A (p.Val1376=)
c.4119G>A (p.Val1373=)
n.6266+13544G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218879A>CCA345884653NBASc.4312T>G
c.4426+13543T>G
c.837T>G
c.2182T>G
c.6326T>G (p.Val2109Gly)
c.512+13543T>G (n.512+13543T>G)
c.3469T>G
n.6280+13543T>G
c.6197T>G (p.Val2066Gly)
c.5687T>G (p.Val1896Gly)
c.4127T>G (p.Val1376Gly)
c.4118T>G (p.Val1373Gly)
n.6266+13543T>G
2g.15218879A>GCA345884649NBASc.4312T>C
c.4426+13543T>C
c.837T>C
c.2182T>C
c.6326T>C (p.Val2109Ala)
c.512+13543T>C (n.512+13543T>C)
c.3469T>C
n.6280+13543T>C
c.6197T>C (p.Val2066Ala)
c.5687T>C (p.Val1896Ala)
c.4127T>C (p.Val1376Ala)
c.4118T>C (p.Val1373Ala)
n.6266+13543T>C
2g.15218879A>TCA345884645NBASc.4312T>A
c.4426+13543T>A
c.837T>A
c.2182T>A
c.6326T>A (p.Val2109Glu)
c.512+13543T>A (n.512+13543T>A)
c.3469T>A
n.6280+13543T>A
c.6197T>A (p.Val2066Glu)
c.5687T>A (p.Val1896Glu)
c.4127T>A (p.Val1376Glu)
c.4118T>A (p.Val1373Glu)
n.6266+13543T>A
2g.15218880C>ACA345884655NBASc.4311G>T
c.4426+13542G>T
c.836G>T
c.2181G>T
c.6325G>T (p.Val2109Leu)
c.512+13542G>T (n.512+13542G>T)
c.3468G>T
n.6280+13542G>T
c.6196G>T (p.Val2066Leu)
c.5686G>T (p.Val1896Leu)
c.4126G>T (p.Val1376Leu)
c.4117G>T (p.Val1373Leu)
n.6266+13542G>T
2g.15218880C=CA2490796224NBASc.4311G=
c.4426+13542G=
c.836G=
c.2181G=
c.6325G= (p.Val2109=)
c.512+13542G= (n.512+13542G=)
c.3468G=
n.6280+13542G=
c.6196G= (p.Val2066=)
c.5686G= (p.Val1896=)
c.4126G= (p.Val1376=)
c.4117G= (p.Val1373=)
n.6266+13542G=
2g.15218880C>GCA345884658NBASc.4311G>C
c.4426+13542G>C
c.836G>C
c.2181G>C
c.6325G>C (p.Val2109Leu)
c.512+13542G>C (n.512+13542G>C)
c.3468G>C
n.6280+13542G>C
c.6196G>C (p.Val2066Leu)
c.5686G>C (p.Val1896Leu)
c.4126G>C (p.Val1376Leu)
c.4117G>C (p.Val1373Leu)
n.6266+13542G>C
 gnomAD v4
2g.15218880C>TCA1535036NBASc.4311G>A
c.4426+13542G>A
c.836G>A
c.2181G>A
c.6325G>A (p.Val2109Met)
c.512+13542G>A (n.512+13542G>A)
c.3468G>A
n.6280+13542G>A
c.6196G>A (p.Val2066Met)
c.5686G>A (p.Val1896Met)
c.4126G>A (p.Val1376Met)
c.4117G>A (p.Val1373Met)
n.6266+13542G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218881G>ACA42584433NBASc.4310C>T
c.4426+13541C>T
c.835C>T
c.2180C>T
c.6324C>T (p.His2108=)
c.512+13541C>T (n.512+13541C>T)
c.3467C>T
n.6280+13541C>T
c.6195C>T (p.His2065=)
c.5685C>T (p.His1895=)
c.4125C>T (p.His1375=)
c.4116C>T (p.His1372=)
n.6266+13541C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.15218881G>CCA345884667NBASc.4310C>G
c.4426+13541C>G
c.835C>G
c.2180C>G
c.6324C>G (p.His2108Gln)
c.512+13541C>G (n.512+13541C>G)
c.3467C>G
n.6280+13541C>G
c.6195C>G (p.His2065Gln)
c.5685C>G (p.His1895Gln)
c.4125C>G (p.His1375Gln)
c.4116C>G (p.His1372Gln)
n.6266+13541C>G
2g.15218881G=CA2490796225NBASc.4310C=
c.4426+13541C=
c.835C=
c.2180C=
c.6324C= (p.His2108=)
c.512+13541C= (n.512+13541C=)
c.3467C=
n.6280+13541C=
c.6195C= (p.His2065=)
c.5685C= (p.His1895=)
c.4125C= (p.His1375=)
c.4116C= (p.His1372=)
n.6266+13541C=
2g.15218881G>TCA1535037NBASc.4310C>A
c.4426+13541C>A
c.835C>A
c.2180C>A
c.6324C>A (p.His2108Gln)
c.512+13541C>A (n.512+13541C>A)
c.3467C>A
n.6280+13541C>A
c.6195C>A (p.His2065Gln)
c.5685C>A (p.His1895Gln)
c.4125C>A (p.His1375Gln)
c.4116C>A (p.His1372Gln)
n.6266+13541C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218882T>ACA345884670NBASc.4309A>T
c.4426+13540A>T
c.834A>T
c.2179A>T
c.6323A>T (p.His2108Leu)
c.512+13540A>T (n.512+13540A>T)
c.3466A>T
n.6280+13540A>T
c.6194A>T (p.His2065Leu)
c.5684A>T (p.His1895Leu)
c.4124A>T (p.His1375Leu)
c.4115A>T (p.His1372Leu)
n.6266+13540A>T
2g.15218882T>CCA345884672NBASc.4309A>G
c.4426+13540A>G
c.834A>G
c.2179A>G
c.6323A>G (p.His2108Arg)
c.512+13540A>G (n.512+13540A>G)
c.3466A>G
n.6280+13540A>G
c.6194A>G (p.His2065Arg)
c.5684A>G (p.His1895Arg)
c.4124A>G (p.His1375Arg)
c.4115A>G (p.His1372Arg)
n.6266+13540A>G
2g.15218882T>GCA345884676NBASc.4309A>C
c.4426+13540A>C
c.834A>C
c.2179A>C
c.6323A>C (p.His2108Pro)
c.512+13540A>C (n.512+13540A>C)
c.3466A>C
n.6280+13540A>C
c.6194A>C (p.His2065Pro)
c.5684A>C (p.His1895Pro)
c.4124A>C (p.His1375Pro)
c.4115A>C (p.His1372Pro)
n.6266+13540A>C
2g.15218883G>ACA345884678NBASc.4308C>T
c.4426+13539C>T
c.833C>T
c.2178C>T
c.6322C>T (p.His2108Tyr)
c.512+13539C>T (n.512+13539C>T)
c.3465C>T
n.6280+13539C>T
c.6193C>T (p.His2065Tyr)
c.5683C>T (p.His1895Tyr)
c.4123C>T (p.His1375Tyr)
c.4114C>T (p.His1372Tyr)
n.6266+13539C>T
2g.15218883G>CCA345884681NBASc.4308C>G
c.4426+13539C>G
c.833C>G
c.2178C>G
c.6322C>G (p.His2108Asp)
c.512+13539C>G (n.512+13539C>G)
c.3465C>G
n.6280+13539C>G
c.6193C>G (p.His2065Asp)
c.5683C>G (p.His1895Asp)
c.4123C>G (p.His1375Asp)
c.4114C>G (p.His1372Asp)
n.6266+13539C>G
2g.15218883G>TCA345884683NBASc.4308C>A
c.4426+13539C>A
c.833C>A
c.2178C>A
c.6322C>A (p.His2108Asn)
c.512+13539C>A (n.512+13539C>A)
c.3465C>A
n.6280+13539C>A
c.6193C>A (p.His2065Asn)
c.5683C>A (p.His1895Asn)
c.4123C>A (p.His1375Asn)
c.4114C>A (p.His1372Asn)
n.6266+13539C>A
2g.15218884A>CCA345884685NBASc.4307T>G
c.4426+13538T>G
c.832T>G
c.2177T>G
c.6321T>G (p.Ile2107Met)
c.512+13538T>G (n.512+13538T>G)
c.3464T>G
n.6280+13538T>G
c.6192T>G (p.Ile2064Met)
c.5682T>G (p.Ile1894Met)
c.4122T>G (p.Ile1374Met)
c.4113T>G (p.Ile1371Met)
n.6266+13538T>G
 ClinVar
2g.15218884A>GCA424866957NBASc.4307T>C
c.4426+13538T>C
c.832T>C
c.2177T>C
c.6321T>C (p.Ile2107=)
c.512+13538T>C (n.512+13538T>C)
c.3464T>C
n.6280+13538T>C
c.6192T>C (p.Ile2064=)
c.5682T>C (p.Ile1894=)
c.4122T>C (p.Ile1374=)
c.4113T>C (p.Ile1371=)
n.6266+13538T>C
2g.15218884A>TCA424866958NBASc.4307T>A
c.4426+13538T>A
c.832T>A
c.2177T>A
c.6321T>A (p.Ile2107=)
c.512+13538T>A (n.512+13538T>A)
c.3464T>A
n.6280+13538T>A
c.6192T>A (p.Ile2064=)
c.5682T>A (p.Ile1894=)
c.4122T>A (p.Ile1374=)
c.4113T>A (p.Ile1371=)
n.6266+13538T>A
2g.15218885A>CCA345884690NBASc.4306T>G
c.4426+13537T>G
c.831T>G
c.2176T>G
c.6320T>G (p.Ile2107Ser)
c.512+13537T>G (n.512+13537T>G)
c.3463T>G
n.6280+13537T>G
c.6191T>G (p.Ile2064Ser)
c.5681T>G (p.Ile1894Ser)
c.4121T>G (p.Ile1374Ser)
c.4112T>G (p.Ile1371Ser)
n.6266+13537T>G
2g.15218885A>GCA345884688NBASc.4306T>C
c.4426+13537T>C
c.831T>C
c.2176T>C
c.6320T>C (p.Ile2107Thr)
c.512+13537T>C (n.512+13537T>C)
c.3463T>C
n.6280+13537T>C
c.6191T>C (p.Ile2064Thr)
c.5681T>C (p.Ile1894Thr)
c.4121T>C (p.Ile1374Thr)
c.4112T>C (p.Ile1371Thr)
n.6266+13537T>C
2g.15218885A>TCA345884687NBASc.4306T>A
c.4426+13537T>A
c.831T>A
c.2176T>A
c.6320T>A (p.Ile2107Asn)
c.512+13537T>A (n.512+13537T>A)
c.3463T>A
n.6280+13537T>A
c.6191T>A (p.Ile2064Asn)
c.5681T>A (p.Ile1894Asn)
c.4121T>A (p.Ile1374Asn)
c.4112T>A (p.Ile1371Asn)
n.6266+13537T>A
2g.15218886T>ACA345884694NBASc.4305A>T
c.4426+13536A>T
c.830A>T
c.2175A>T
c.6319A>T (p.Ile2107Phe)
c.512+13536A>T (n.512+13536A>T)
c.3462A>T
n.6280+13536A>T
c.6190A>T (p.Ile2064Phe)
c.5680A>T (p.Ile1894Phe)
c.4120A>T (p.Ile1374Phe)
c.4111A>T (p.Ile1371Phe)
n.6266+13536A>T
2g.15218886T>CCA345884697NBASc.4305A>G
c.4426+13536A>G
c.830A>G
c.2175A>G
c.6319A>G (p.Ile2107Val)
c.512+13536A>G (n.512+13536A>G)
c.3462A>G
n.6280+13536A>G
c.6190A>G (p.Ile2064Val)
c.5680A>G (p.Ile1894Val)
c.4120A>G (p.Ile1374Val)
c.4111A>G (p.Ile1371Val)
n.6266+13536A>G
 dbSNP
2g.15218886T>GCA345884696NBASc.4305A>C
c.4426+13536A>C
c.830A>C
c.2175A>C
c.6319A>C (p.Ile2107Leu)
c.512+13536A>C (n.512+13536A>C)
c.3462A>C
n.6280+13536A>C
c.6190A>C (p.Ile2064Leu)
c.5680A>C (p.Ile1894Leu)
c.4120A>C (p.Ile1374Leu)
c.4111A>C (p.Ile1371Leu)
n.6266+13536A>C
2g.15218886T=CA2490796226NBASc.4305A=
c.4426+13536A=
c.830A=
c.2175A=
c.6319A= (p.Ile2107=)
c.512+13536A= (n.512+13536A=)
c.3462A=
n.6280+13536A=
c.6190A= (p.Ile2064=)
c.5680A= (p.Ile1894=)
c.4120A= (p.Ile1374=)
c.4111A= (p.Ile1371=)
n.6266+13536A=
2g.15218886_15218898dupCA2657930725NBASc.4293_4305dup
c.4426+13524_4426+13536dup
c.818_830dup
c.2163_2175dup
c.6307_6319dup (p.Ile2107SerfsTer19)
c.512+13524_512+13536dup (n.512+13524_512+13536dup)
c.3450_3462dup
n.6280+13524_6280+13536dup
c.6178_6190dup (p.Ile2064SerfsTer19)
c.5668_5680dup (p.Ile1894SerfsTer19)
c.4108_4120dup (p.Ile1374SerfsTer19)
c.4099_4111dup (p.Ile1371SerfsTer19)
n.6266+13524_6266+13536dup
 gnomAD v4
2g.15218887G>ACA424866959NBASc.4304C>T
c.4426+13535C>T
c.829C>T
c.2174C>T
c.6318C>T (p.Arg2106=)
c.512+13535C>T (n.512+13535C>T)
c.3461C>T
n.6280+13535C>T
c.6189C>T (p.Arg2063=)
c.5679C>T (p.Arg1893=)
c.4119C>T (p.Arg1373=)
c.4110C>T (p.Arg1370=)
n.6266+13535C>T
2g.15218887G>CCA424866960NBASc.4304C>G
c.4426+13535C>G
c.829C>G
c.2174C>G
c.6318C>G (p.Arg2106=)
c.512+13535C>G (n.512+13535C>G)
c.3461C>G
n.6280+13535C>G
c.6189C>G (p.Arg2063=)
c.5679C>G (p.Arg1893=)
c.4119C>G (p.Arg1373=)
c.4110C>G (p.Arg1370=)
n.6266+13535C>G
2g.15218887G>TCA424866961NBASc.4304C>A
c.4426+13535C>A
c.829C>A
c.2174C>A
c.6318C>A (p.Arg2106=)
c.512+13535C>A (n.512+13535C>A)
c.3461C>A
n.6280+13535C>A
c.6189C>A (p.Arg2063=)
c.5679C>A (p.Arg1893=)
c.4119C>A (p.Arg1373=)
c.4110C>A (p.Arg1370=)
n.6266+13535C>A
 ClinVar gnomAD v4
2g.15218887_15218901delCA2657930726NBASc.4290_4304del
c.4426+13521_4426+13535del
c.815_829del
c.2160_2174del
c.6304_6318del (p.Pro2102_Arg2106del)
c.512+13521_512+13535del (n.512+13521_512+13535del)
c.3447_3461del
n.6280+13521_6280+13535del
c.6175_6189del (p.Pro2059_Arg2063del)
c.5665_5679del (p.Pro1889_Arg1893del)
c.4105_4119del (p.Pro1369_Arg1373del)
c.4096_4110del (p.Pro1366_Arg1370del)
n.6266+13521_6266+13535del
 gnomAD v4
2g.15218888C>ACA1535038NBASc.4303G>T
c.4426+13534G>T
c.828G>T
c.2173G>T
c.6317G>T (p.Arg2106Leu)
c.512+13534G>T (n.512+13534G>T)
c.3460G>T
n.6280+13534G>T
c.6188G>T (p.Arg2063Leu)
c.5678G>T (p.Arg1893Leu)
c.4118G>T (p.Arg1373Leu)
c.4109G>T (p.Arg1370Leu)
n.6266+13534G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218888C=CA2490796227NBASc.4303G=
c.4426+13534G=
c.828G=
c.2173G=
c.6317G= (p.Arg2106=)
c.512+13534G= (n.512+13534G=)
c.3460G=
n.6280+13534G=
c.6188G= (p.Arg2063=)
c.5678G= (p.Arg1893=)
c.4118G= (p.Arg1373=)
c.4109G= (p.Arg1370=)
n.6266+13534G=
2g.15218888C>GCA345884708NBASc.4303G>C
c.4426+13534G>C
c.828G>C
c.2173G>C
c.6317G>C (p.Arg2106Pro)
c.512+13534G>C (n.512+13534G>C)
c.3460G>C
n.6280+13534G>C
c.6188G>C (p.Arg2063Pro)
c.5678G>C (p.Arg1893Pro)
c.4118G>C (p.Arg1373Pro)
c.4109G>C (p.Arg1370Pro)
n.6266+13534G>C
2g.15218888C>TCA1535039NBASc.4303G>A
c.4426+13534G>A
c.828G>A
c.2173G>A
c.6317G>A (p.Arg2106His)
c.512+13534G>A (n.512+13534G>A)
c.3460G>A
n.6280+13534G>A
c.6188G>A (p.Arg2063His)
c.5678G>A (p.Arg1893His)
c.4118G>A (p.Arg1373His)
c.4109G>A (p.Arg1370His)
n.6266+13534G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218888_15218889delinsCGCA2490796228NBASc.4302_4303delinsCG
c.4426+13533_4426+13534delinsCG
c.827_828delinsCG
c.2172_2173delinsCG
c.6316_6317delinsCG (p.Arg2106=)
c.512+13533_512+13534delinsCG (n.512+13533_512+13534delinsCG)
c.3459_3460delinsCG
n.6280+13533_6280+13534delinsCG
c.6187_6188delinsCG (p.Arg2063=)
c.5677_5678delinsCG (p.Arg1893=)
c.4117_4118delinsCG (p.Arg1373=)
c.4108_4109delinsCG (p.Arg1370=)
n.6266+13533_6266+13534delinsCG
2g.15218889G>ACA1535040NBASc.4302C>T
c.4426+13533C>T
c.827C>T
c.2172C>T
c.6316C>T (p.Arg2106Cys)
c.512+13533C>T (n.512+13533C>T)
c.3459C>T
n.6280+13533C>T
c.6187C>T (p.Arg2063Cys)
c.5677C>T (p.Arg1893Cys)
c.4117C>T (p.Arg1373Cys)
c.4108C>T (p.Arg1370Cys)
n.6266+13533C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218889G>CCA345884714NBASc.4302C>G
c.4426+13533C>G
c.827C>G
c.2172C>G
c.6316C>G (p.Arg2106Gly)
c.512+13533C>G (n.512+13533C>G)
c.3459C>G
n.6280+13533C>G
c.6187C>G (p.Arg2063Gly)
c.5677C>G (p.Arg1893Gly)
c.4117C>G (p.Arg1373Gly)
c.4108C>G (p.Arg1370Gly)
n.6266+13533C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.15218889G=CA2490796229NBASc.4302C=
c.4426+13533C=
c.827C=
c.2172C=
c.6316C= (p.Arg2106=)
c.512+13533C= (n.512+13533C=)
c.3459C=
n.6280+13533C=
c.6187C= (p.Arg2063=)
c.5677C= (p.Arg1893=)
c.4117C= (p.Arg1373=)
c.4108C= (p.Arg1370=)
n.6266+13533C=
2g.15218889G>TCA345884711NBASc.4302C>A
c.4426+13533C>A
c.827C>A
c.2172C>A
c.6316C>A (p.Arg2106Ser)
c.512+13533C>A (n.512+13533C>A)
c.3459C>A
n.6280+13533C>A
c.6187C>A (p.Arg2063Ser)
c.5677C>A (p.Arg1893Ser)
c.4117C>A (p.Arg1373Ser)
c.4108C>A (p.Arg1370Ser)
n.6266+13533C>A
2g.15218892delCA16617250NBASc.4302del
c.4426+13533del
c.827del
c.2172del
c.6316del (p.Arg2106AlafsTer14)
c.512+13533del (n.512+13533del)
c.3459del
n.6280+13533del
c.6187del (p.Arg2063AlafsTer14)
c.5677del (p.Arg1893AlafsTer14)
c.4117del (p.Arg1373AlafsTer14)
c.4108del (p.Arg1370AlafsTer14)
n.6266+13533del
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.15218890G>ACA424866964NBASc.4301C>T
c.4426+13532C>T
c.826C>T
c.2171C>T
c.6315C>T (p.Pro2105=)
c.512+13532C>T (n.512+13532C>T)
c.3458C>T
n.6280+13532C>T
c.6186C>T (p.Pro2062=)
c.5676C>T (p.Pro1892=)
c.4116C>T (p.Pro1372=)
c.4107C>T (p.Pro1369=)
n.6266+13532C>T
2g.15218890G>CCA424866962NBASc.4301C>G
c.4426+13532C>G
c.826C>G
c.2171C>G
c.6315C>G (p.Pro2105=)
c.512+13532C>G (n.512+13532C>G)
c.3458C>G
n.6280+13532C>G
c.6186C>G (p.Pro2062=)
c.5676C>G (p.Pro1892=)
c.4116C>G (p.Pro1372=)
c.4107C>G (p.Pro1369=)
n.6266+13532C>G
 ClinVar
2g.15218890G=CA2490796230NBASc.4301C=
c.4426+13532C=
c.826C=
c.2171C=
c.6315C= (p.Pro2105=)
c.512+13532C= (n.512+13532C=)
c.3458C=
n.6280+13532C=
c.6186C= (p.Pro2062=)
c.5676C= (p.Pro1892=)
c.4116C= (p.Pro1372=)
c.4107C= (p.Pro1369=)
n.6266+13532C=
2g.15218890G>TCA424866963NBASc.4301C>A
c.4426+13532C>A
c.826C>A
c.2171C>A
c.6315C>A (p.Pro2105=)
c.512+13532C>A (n.512+13532C>A)
c.3458C>A
n.6280+13532C>A
c.6186C>A (p.Pro2062=)
c.5676C>A (p.Pro1892=)
c.4116C>A (p.Pro1372=)
c.4107C>A (p.Pro1369=)
n.6266+13532C>A
 dbSNP gnomAD v2 gnomAD v4
2g.15218891G>ACA345884719NBASc.4300C>T
c.4426+13531C>T
c.825C>T
c.2170C>T
c.6314C>T (p.Pro2105Leu)
c.512+13531C>T (n.512+13531C>T)
c.3457C>T
n.6280+13531C>T
c.6185C>T (p.Pro2062Leu)
c.5675C>T (p.Pro1892Leu)
c.4115C>T (p.Pro1372Leu)
c.4106C>T (p.Pro1369Leu)
n.6266+13531C>T
2g.15218891G>CCA345884723NBASc.4300C>G
c.4426+13531C>G
c.825C>G
c.2170C>G
c.6314C>G (p.Pro2105Arg)
c.512+13531C>G (n.512+13531C>G)
c.3457C>G
n.6280+13531C>G
c.6185C>G (p.Pro2062Arg)
c.5675C>G (p.Pro1892Arg)
c.4115C>G (p.Pro1372Arg)
c.4106C>G (p.Pro1369Arg)
n.6266+13531C>G
2g.15218891G>TCA345884722NBASc.4300C>A
c.4426+13531C>A
c.825C>A
c.2170C>A
c.6314C>A (p.Pro2105His)
c.512+13531C>A (n.512+13531C>A)
c.3457C>A
n.6280+13531C>A
c.6185C>A (p.Pro2062His)
c.5675C>A (p.Pro1892His)
c.4115C>A (p.Pro1372His)
c.4106C>A (p.Pro1369His)
n.6266+13531C>A
2g.15218892G>ACA345884724NBASc.4299C>T
c.4426+13530C>T
c.824C>T
c.2169C>T
c.6313C>T (p.Pro2105Ser)
c.512+13530C>T (n.512+13530C>T)
c.3456C>T
n.6280+13530C>T
c.6184C>T (p.Pro2062Ser)
c.5674C>T (p.Pro1892Ser)
c.4114C>T (p.Pro1372Ser)
c.4105C>T (p.Pro1369Ser)
n.6266+13530C>T
2g.15218892G>CCA345884726NBASc.4299C>G
c.4426+13530C>G
c.824C>G
c.2169C>G
c.6313C>G (p.Pro2105Ala)
c.512+13530C>G (n.512+13530C>G)
c.3456C>G
n.6280+13530C>G
c.6184C>G (p.Pro2062Ala)
c.5674C>G (p.Pro1892Ala)
c.4114C>G (p.Pro1372Ala)
c.4105C>G (p.Pro1369Ala)
n.6266+13530C>G
 gnomAD v4
2g.15218892G=CA2490796231NBASc.4299C=
c.4426+13530C=
c.824C=
c.2169C=
c.6313C= (p.Pro2105=)
c.512+13530C= (n.512+13530C=)
c.3456C=
n.6280+13530C=
c.6184C= (p.Pro2062=)
c.5674C= (p.Pro1892=)
c.4114C= (p.Pro1372=)
c.4105C= (p.Pro1369=)
n.6266+13530C=
2g.15218892G>TCA345884725NBASc.4299C>A
c.4426+13530C>A
c.824C>A
c.2169C>A
c.6313C>A (p.Pro2105Thr)
c.512+13530C>A (n.512+13530C>A)
c.3456C>A
n.6280+13530C>A
c.6184C>A (p.Pro2062Thr)
c.5674C>A (p.Pro1892Thr)
c.4114C>A (p.Pro1372Thr)
c.4105C>A (p.Pro1369Thr)
n.6266+13530C>A
 dbSNP gnomAD v2 gnomAD v4
2g.15218892_15218893delinsGCCA2490796232NBASc.4298_4299delinsGC
c.4426+13529_4426+13530delinsGC
c.823_824delinsGC
c.2168_2169delinsGC
c.6312_6313delinsGC (p.Arg2104=)
c.512+13529_512+13530delinsGC (n.512+13529_512+13530delinsGC)
c.3455_3456delinsGC
n.6280+13529_6280+13530delinsGC
c.6183_6184delinsGC (p.Arg2061=)
c.5673_5674delinsGC (p.Arg1891=)
c.4113_4114delinsGC (p.Arg1371=)
c.4104_4105delinsGC (p.Arg1368=)
n.6266+13529_6266+13530delinsGC
2g.15218893C>ACA424866965NBASc.4298G>T
c.4426+13529G>T
c.823G>T
c.2168G>T
c.6312G>T (p.Arg2104=)
c.512+13529G>T (n.512+13529G>T)
c.3455G>T
n.6280+13529G>T
c.6183G>T (p.Arg2061=)
c.5673G>T (p.Arg1891=)
c.4113G>T (p.Arg1371=)
c.4104G>T (p.Arg1368=)
n.6266+13529G>T
2g.15218893C>GCA424866966NBASc.4298G>C
c.4426+13529G>C
c.823G>C
c.2168G>C
c.6312G>C (p.Arg2104=)
c.512+13529G>C (n.512+13529G>C)
c.3455G>C
n.6280+13529G>C
c.6183G>C (p.Arg2061=)
c.5673G>C (p.Arg1891=)
c.4113G>C (p.Arg1371=)
c.4104G>C (p.Arg1368=)
n.6266+13529G>C
2g.15218893C>TCA424866967NBASc.4298G>A
c.4426+13529G>A
c.823G>A
c.2168G>A
c.6312G>A (p.Arg2104=)
c.512+13529G>A (n.512+13529G>A)
c.3455G>A
n.6280+13529G>A
c.6183G>A (p.Arg2061=)
c.5673G>A (p.Arg1891=)
c.4113G>A (p.Arg1371=)
c.4104G>A (p.Arg1368=)
n.6266+13529G>A
 gnomAD v4
2g.15218894delCA758915134NBASc.4298del
c.4426+13529del
c.823del
c.2168del
c.6312del (p.Arg2106AlafsTer14)
c.512+13529del (n.512+13529del)
c.3455del
n.6280+13529del
c.6183del (p.Arg2063AlafsTer14)
c.5673del (p.Arg1893AlafsTer14)
c.4113del (p.Arg1373AlafsTer14)
c.4104del (p.Arg1370AlafsTer14)
n.6266+13529del
 ClinVar dbSNP gnomAD v4
2g.15218894C>ACA345884727NBASc.4297G>T
c.4426+13528G>T
c.822G>T
c.2167G>T
c.6311G>T (p.Arg2104Leu)
c.512+13528G>T (n.512+13528G>T)
c.3454G>T
n.6280+13528G>T
c.6182G>T (p.Arg2061Leu)
c.5672G>T (p.Arg1891Leu)
c.4112G>T (p.Arg1371Leu)
c.4103G>T (p.Arg1368Leu)
n.6266+13528G>T
 COSMIC
2g.15218894C=CA2490796233NBASc.4297G=
c.4426+13528G=
c.822G=
c.2167G=
c.6311G= (p.Arg2104=)
c.512+13528G= (n.512+13528G=)
c.3454G=
n.6280+13528G=
c.6182G= (p.Arg2061=)
c.5672G= (p.Arg1891=)
c.4112G= (p.Arg1371=)
c.4103G= (p.Arg1368=)
n.6266+13528G=
2g.15218894C>GCA345884730NBASc.4297G>C
c.4426+13528G>C
c.822G>C
c.2167G>C
c.6311G>C (p.Arg2104Pro)
c.512+13528G>C (n.512+13528G>C)
c.3454G>C
n.6280+13528G>C
c.6182G>C (p.Arg2061Pro)
c.5672G>C (p.Arg1891Pro)
c.4112G>C (p.Arg1371Pro)
c.4103G>C (p.Arg1368Pro)
n.6266+13528G>C
 dbSNP gnomAD v2 gnomAD v4
2g.15218894C>TCA1535041NBASc.4297G>A
c.4426+13528G>A
c.822G>A
c.2167G>A
c.6311G>A (p.Arg2104Gln)
c.512+13528G>A (n.512+13528G>A)
c.3454G>A
n.6280+13528G>A
c.6182G>A (p.Arg2061Gln)
c.5672G>A (p.Arg1891Gln)
c.4112G>A (p.Arg1371Gln)
c.4103G>A (p.Arg1368Gln)
n.6266+13528G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218895G>ACA1535042NBASc.4296C>T
c.4426+13527C>T
c.821C>T
c.2166C>T
c.6310C>T (p.Arg2104Trp)
c.512+13527C>T (n.512+13527C>T)
c.3453C>T
n.6280+13527C>T
c.6181C>T (p.Arg2061Trp)
c.5671C>T (p.Arg1891Trp)
c.4111C>T (p.Arg1371Trp)
c.4102C>T (p.Arg1368Trp)
n.6266+13527C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218895G>CCA1535043NBASc.4296C>G
c.4426+13527C>G
c.821C>G
c.2166C>G
c.6310C>G (p.Arg2104Gly)
c.512+13527C>G (n.512+13527C>G)
c.3453C>G
n.6280+13527C>G
c.6181C>G (p.Arg2061Gly)
c.5671C>G (p.Arg1891Gly)
c.4111C>G (p.Arg1371Gly)
c.4102C>G (p.Arg1368Gly)
n.6266+13527C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218895G=CA2490796234NBASc.4296C=
c.4426+13527C=
c.821C=
c.2166C=
c.6310C= (p.Arg2104=)
c.512+13527C= (n.512+13527C=)
c.3453C=
n.6280+13527C=
c.6181C= (p.Arg2061=)
c.5671C= (p.Arg1891=)
c.4111C= (p.Arg1371=)
c.4102C= (p.Arg1368=)
n.6266+13527C=
2g.15218895G>TCA424866968NBASc.4296C>A
c.4426+13527C>A
c.821C>A
c.2166C>A
c.6310C>A (p.Arg2104=)
c.512+13527C>A (n.512+13527C>A)
c.3453C>A
n.6280+13527C>A
c.6181C>A (p.Arg2061=)
c.5671C>A (p.Arg1891=)
c.4111C>A (p.Arg1371=)
c.4102C>A (p.Arg1368=)
n.6266+13527C>A
2g.15218896C>ACA424866971NBASc.4295G>T
c.4426+13526G>T
c.820G>T
c.2165G>T
c.6309G>T (p.Val2103=)
c.512+13526G>T (n.512+13526G>T)
c.3452G>T
n.6280+13526G>T
c.6180G>T (p.Val2060=)
c.5670G>T (p.Val1890=)
c.4110G>T (p.Val1370=)
c.4101G>T (p.Val1367=)
n.6266+13526G>T
 dbSNP gnomAD v2 gnomAD v4
2g.15218896C=CA2490796235NBASc.4295G=
c.4426+13526G=
c.820G=
c.2165G=
c.6309G= (p.Val2103=)
c.512+13526G= (n.512+13526G=)
c.3452G=
n.6280+13526G=
c.6180G= (p.Val2060=)
c.5670G= (p.Val1890=)
c.4110G= (p.Val1370=)
c.4101G= (p.Val1367=)
n.6266+13526G=
2g.15218896C>GCA424866969NBASc.4295G>C
c.4426+13526G>C
c.820G>C
c.2165G>C
c.6309G>C (p.Val2103=)
c.512+13526G>C (n.512+13526G>C)
c.3452G>C
n.6280+13526G>C
c.6180G>C (p.Val2060=)
c.5670G>C (p.Val1890=)
c.4110G>C (p.Val1370=)
c.4101G>C (p.Val1367=)
n.6266+13526G>C
2g.15218896C>TCA424866970NBASc.4295G>A
c.4426+13526G>A
c.820G>A
c.2165G>A
c.6309G>A (p.Val2103=)
c.512+13526G>A (n.512+13526G>A)
c.3452G>A
n.6280+13526G>A
c.6180G>A (p.Val2060=)
c.5670G>A (p.Val1890=)
c.4110G>A (p.Val1370=)
c.4101G>A (p.Val1367=)
n.6266+13526G>A
2g.15218897A>CCA345884738NBASc.4294T>G
c.4426+13525T>G
c.819T>G
c.2164T>G
c.6308T>G (p.Val2103Gly)
c.512+13525T>G (n.512+13525T>G)
c.3451T>G
n.6280+13525T>G
c.6179T>G (p.Val2060Gly)
c.5669T>G (p.Val1890Gly)
c.4109T>G (p.Val1370Gly)
c.4100T>G (p.Val1367Gly)
n.6266+13525T>G
2g.15218897A>GCA345884752NBASc.4294T>C
c.4426+13525T>C
c.819T>C
c.2164T>C
c.6308T>C (p.Val2103Ala)
c.512+13525T>C (n.512+13525T>C)
c.3451T>C
n.6280+13525T>C
c.6179T>C (p.Val2060Ala)
c.5669T>C (p.Val1890Ala)
c.4109T>C (p.Val1370Ala)
c.4100T>C (p.Val1367Ala)
n.6266+13525T>C
2g.15218897A>TCA345884755NBASc.4294T>A
c.4426+13525T>A
c.819T>A
c.2164T>A
c.6308T>A (p.Val2103Glu)
c.512+13525T>A (n.512+13525T>A)
c.3451T>A
n.6280+13525T>A
c.6179T>A (p.Val2060Glu)
c.5669T>A (p.Val1890Glu)
c.4109T>A (p.Val1370Glu)
c.4100T>A (p.Val1367Glu)
n.6266+13525T>A
2g.15218897_15218898delinsACCA2490796236NBASc.4293_4294delinsGT
c.4426+13524_4426+13525delinsGT
c.818_819delinsGT
c.2163_2164delinsGT
c.6307_6308delinsGT (p.Val2103=)
c.512+13524_512+13525delinsGT (n.512+13524_512+13525delinsGT)
c.3450_3451delinsGT
n.6280+13524_6280+13525delinsGT
c.6178_6179delinsGT (p.Val2060=)
c.5668_5669delinsGT (p.Val1890=)
c.4108_4109delinsGT (p.Val1370=)
c.4099_4100delinsGT (p.Val1367=)
n.6266+13524_6266+13525delinsGT
2g.15218898C>ACA345884759NBASc.4293G>T
c.4426+13524G>T
c.818G>T
c.2163G>T
c.6307G>T (p.Val2103Leu)
c.512+13524G>T (n.512+13524G>T)
c.3450G>T
n.6280+13524G>T
c.6178G>T (p.Val2060Leu)
c.5668G>T (p.Val1890Leu)
c.4108G>T (p.Val1370Leu)
c.4099G>T (p.Val1367Leu)
n.6266+13524G>T
 gnomAD v4
2g.15218898C=CA2490796237NBASc.4293G=
c.4426+13524G=
c.818G=
c.2163G=
c.6307G= (p.Val2103=)
c.512+13524G= (n.512+13524G=)
c.3450G=
n.6280+13524G=
c.6178G= (p.Val2060=)
c.5668G= (p.Val1890=)
c.4108G= (p.Val1370=)
c.4099G= (p.Val1367=)
n.6266+13524G=
2g.15218898C>GCA1535044NBASc.4293G>C
c.4426+13524G>C
c.818G>C
c.2163G>C
c.6307G>C (p.Val2103Leu)
c.512+13524G>C (n.512+13524G>C)
c.3450G>C
n.6280+13524G>C
c.6178G>C (p.Val2060Leu)
c.5668G>C (p.Val1890Leu)
c.4108G>C (p.Val1370Leu)
c.4099G>C (p.Val1367Leu)
n.6266+13524G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218898C>TCA42584460NBASc.4293G>A
c.4426+13524G>A
c.818G>A
c.2163G>A
c.6307G>A (p.Val2103Met)
c.512+13524G>A (n.512+13524G>A)
c.3450G>A
n.6280+13524G>A
c.6178G>A (p.Val2060Met)
c.5668G>A (p.Val1890Met)
c.4108G>A (p.Val1370Met)
c.4099G>A (p.Val1367Met)
n.6266+13524G>A
 dbSNP gnomAD v4
2g.15218899delCA758915144NBASc.4293del
c.4426+13524del
c.818del
c.2163del
c.6307del (p.Val2103CysfsTer17)
c.512+13524del (n.512+13524del)
c.3450del
n.6280+13524del
c.6178del (p.Val2060CysfsTer17)
c.5668del (p.Val1890CysfsTer17)
c.4108del (p.Val1370CysfsTer17)
c.4099del (p.Val1367CysfsTer17)
n.6266+13524del
 dbSNP gnomAD v3 gnomAD v4
2g.15218899C>ACA424866972NBASc.4292G>T
c.4426+13523G>T
c.817G>T
c.2162G>T
c.6306G>T (p.Pro2102=)
c.512+13523G>T (n.512+13523G>T)
c.3449G>T
n.6280+13523G>T
c.6177G>T (p.Pro2059=)
c.5667G>T (p.Pro1889=)
c.4107G>T (p.Pro1369=)
c.4098G>T (p.Pro1366=)
n.6266+13523G>T
 dbSNP gnomAD v4
2g.15218899C=CA2490796238NBASc.4292G=
c.4426+13523G=
c.817G=
c.2162G=
c.6306G= (p.Pro2102=)
c.512+13523G= (n.512+13523G=)
c.3449G=
n.6280+13523G=
c.6177G= (p.Pro2059=)
c.5667G= (p.Pro1889=)
c.4107G= (p.Pro1369=)
c.4098G= (p.Pro1366=)
n.6266+13523G=
2g.15218899C>GCA424866973NBASc.4292G>C
c.4426+13523G>C
c.817G>C
c.2162G>C
c.6306G>C (p.Pro2102=)
c.512+13523G>C (n.512+13523G>C)
c.3449G>C
n.6280+13523G>C
c.6177G>C (p.Pro2059=)
c.5667G>C (p.Pro1889=)
c.4107G>C (p.Pro1369=)
c.4098G>C (p.Pro1366=)
n.6266+13523G>C
 gnomAD v4
2g.15218899C>TCA1535045NBASc.4292G>A
c.4426+13523G>A
c.817G>A
c.2162G>A
c.6306G>A (p.Pro2102=)
c.512+13523G>A (n.512+13523G>A)
c.3449G>A
n.6280+13523G>A
c.6177G>A (p.Pro2059=)
c.5667G>A (p.Pro1889=)
c.4107G>A (p.Pro1369=)
c.4098G>A (p.Pro1366=)
n.6266+13523G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218901_15218908delCA2576680242NBASc.4285_4292del
c.4426+13516_4426+13523del
c.810_817del
c.2155_2162del
c.6299_6306del (p.Ala2100GlyfsTer19)
c.512+13516_512+13523del (n.512+13516_512+13523del)
c.3442_3449del
n.6280+13516_6280+13523del
c.6170_6177del (p.Ala2057GlyfsTer19)
c.5660_5667del (p.Ala1887GlyfsTer19)
c.4100_4107del (p.Ala1367GlyfsTer19)
c.4091_4098del (p.Ala1364GlyfsTer19)
n.6266+13516_6266+13523del
 gnomAD v4
2g.15218900G>ACA1535047NBASc.4291C>T
c.4426+13522C>T
c.816C>T
c.2161C>T
c.6305C>T (p.Pro2102Leu)
c.512+13522C>T (n.512+13522C>T)
c.3448C>T
n.6280+13522C>T
c.6176C>T (p.Pro2059Leu)
c.5666C>T (p.Pro1889Leu)
c.4106C>T (p.Pro1369Leu)
c.4097C>T (p.Pro1366Leu)
n.6266+13522C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15218900G>CCA1535046NBASc.4291C>G
c.4426+13522C>G
c.816C>G
c.2161C>G
c.6305C>G (p.Pro2102Arg)
c.512+13522C>G (n.512+13522C>G)
c.3448C>G
n.6280+13522C>G
c.6176C>G (p.Pro2059Arg)
c.5666C>G (p.Pro1889Arg)
c.4106C>G (p.Pro1369Arg)
c.4097C>G (p.Pro1366Arg)
n.6266+13522C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218900G=CA2490796239NBASc.4291C=
c.4426+13522C=
c.816C=
c.2161C=
c.6305C= (p.Pro2102=)
c.512+13522C= (n.512+13522C=)
c.3448C=
n.6280+13522C=
c.6176C= (p.Pro2059=)
c.5666C= (p.Pro1889=)
c.4106C= (p.Pro1369=)
c.4097C= (p.Pro1366=)
n.6266+13522C=
2g.15218900G>TCA345884772NBASc.4291C>A
c.4426+13522C>A
c.816C>A
c.2161C>A
c.6305C>A (p.Pro2102Gln)
c.512+13522C>A (n.512+13522C>A)
c.3448C>A
n.6280+13522C>A
c.6176C>A (p.Pro2059Gln)
c.5666C>A (p.Pro1889Gln)
c.4106C>A (p.Pro1369Gln)
c.4097C>A (p.Pro1366Gln)
n.6266+13522C>A
 gnomAD v4
2g.15218901G>ACA42584487NBASc.4290C>T
c.4426+13521C>T
c.815C>T
c.2160C>T
c.6304C>T (p.Pro2102Ser)
c.512+13521C>T (n.512+13521C>T)
c.3447C>T
n.6280+13521C>T
c.6175C>T (p.Pro2059Ser)
c.5665C>T (p.Pro1889Ser)
c.4105C>T (p.Pro1369Ser)
c.4096C>T (p.Pro1366Ser)
n.6266+13521C>T
 dbSNP
2g.15218901G>CCA345884781NBASc.4290C>G
c.4426+13521C>G
c.815C>G
c.2160C>G
c.6304C>G (p.Pro2102Ala)
c.512+13521C>G (n.512+13521C>G)
c.3447C>G
n.6280+13521C>G
c.6175C>G (p.Pro2059Ala)
c.5665C>G (p.Pro1889Ala)
c.4105C>G (p.Pro1369Ala)
c.4096C>G (p.Pro1366Ala)
n.6266+13521C>G
2g.15218901G=CA2490796240NBASc.4290C=
c.4426+13521C=
c.815C=
c.2160C=
c.6304C= (p.Pro2102=)
c.512+13521C= (n.512+13521C=)
c.3447C=
n.6280+13521C=
c.6175C= (p.Pro2059=)
c.5665C= (p.Pro1889=)
c.4105C= (p.Pro1369=)
c.4096C= (p.Pro1366=)
n.6266+13521C=
2g.15218901G>TCA345884783NBASc.4290C>A
c.4426+13521C>A
c.815C>A
c.2160C>A
c.6304C>A (p.Pro2102Thr)
c.512+13521C>A (n.512+13521C>A)
c.3447C>A
n.6280+13521C>A
c.6175C>A (p.Pro2059Thr)
c.5665C>A (p.Pro1889Thr)
c.4105C>A (p.Pro1369Thr)
c.4096C>A (p.Pro1366Thr)
n.6266+13521C>A
2g.15218902C>ACA345884788NBASc.4289G>T
c.4426+13520G>T
c.814G>T
c.2159G>T
c.6303G>T (p.Trp2101Cys)
c.512+13520G>T (n.512+13520G>T)
c.3446G>T
n.6280+13520G>T
c.6174G>T (p.Trp2058Cys)
c.5664G>T (p.Trp1888Cys)
c.4104G>T (p.Trp1368Cys)
c.4095G>T (p.Trp1365Cys)
n.6266+13520G>T
 gnomAD v4
2g.15218902C>GCA345884790NBASc.4289G>C
c.4426+13520G>C
c.814G>C
c.2159G>C
c.6303G>C (p.Trp2101Cys)
c.512+13520G>C (n.512+13520G>C)
c.3446G>C
n.6280+13520G>C
c.6174G>C (p.Trp2058Cys)
c.5664G>C (p.Trp1888Cys)
c.4104G>C (p.Trp1368Cys)
c.4095G>C (p.Trp1365Cys)
n.6266+13520G>C
2g.15218902C>TCA345884793NBASc.4289G>A
c.4426+13520G>A
c.814G>A
c.2159G>A
c.6303G>A (p.Trp2101Ter)
c.512+13520G>A (n.512+13520G>A)
c.3446G>A
n.6280+13520G>A
c.6174G>A (p.Trp2058Ter)
c.5664G>A (p.Trp1888Ter)
c.4104G>A (p.Trp1368Ter)
c.4095G>A (p.Trp1365Ter)
n.6266+13520G>A
2g.15218903C>ACA345884795NBASc.4288G>T
c.4426+13519G>T
c.813G>T
c.2158G>T
c.6302G>T (p.Trp2101Leu)
c.512+13519G>T (n.512+13519G>T)
c.3445G>T
n.6280+13519G>T
c.6173G>T (p.Trp2058Leu)
c.5663G>T (p.Trp1888Leu)
c.4103G>T (p.Trp1368Leu)
c.4094G>T (p.Trp1365Leu)
n.6266+13519G>T
2g.15218903C>GCA345884799NBASc.4288G>C
c.4426+13519G>C
c.813G>C
c.2158G>C
c.6302G>C (p.Trp2101Ser)
c.512+13519G>C (n.512+13519G>C)
c.3445G>C
n.6280+13519G>C
c.6173G>C (p.Trp2058Ser)
c.5663G>C (p.Trp1888Ser)
c.4103G>C (p.Trp1368Ser)
c.4094G>C (p.Trp1365Ser)
n.6266+13519G>C
2g.15218903C>TCA345884802NBASc.4288G>A
c.4426+13519G>A
c.813G>A
c.2158G>A
c.6302G>A (p.Trp2101Ter)
c.512+13519G>A (n.512+13519G>A)
c.3445G>A
n.6280+13519G>A
c.6173G>A (p.Trp2058Ter)
c.5663G>A (p.Trp1888Ter)
c.4103G>A (p.Trp1368Ter)
c.4094G>A (p.Trp1365Ter)
n.6266+13519G>A
2g.15218904A=CA2490796241NBASc.4287T=
c.4426+13518T=
c.812T=
c.2157T=
c.6301T= (p.Trp2101=)
c.512+13518T= (n.512+13518T=)
c.3444T=
n.6280+13518T=
c.6172T= (p.Trp2058=)
c.5662T= (p.Trp1888=)
c.4102T= (p.Trp1368=)
c.4093T= (p.Trp1365=)
n.6266+13518T=
2g.15218904A>CCA345884806NBASc.4287T>G
c.4426+13518T>G
c.812T>G
c.2157T>G
c.6301T>G (p.Trp2101Gly)
c.512+13518T>G (n.512+13518T>G)
c.3444T>G
n.6280+13518T>G
c.6172T>G (p.Trp2058Gly)
c.5662T>G (p.Trp1888Gly)
c.4102T>G (p.Trp1368Gly)
c.4093T>G (p.Trp1365Gly)
n.6266+13518T>G
2g.15218904A>GCA345884809NBASc.4287T>C
c.4426+13518T>C
c.812T>C
c.2157T>C
c.6301T>C (p.Trp2101Arg)
c.512+13518T>C (n.512+13518T>C)
c.3444T>C
n.6280+13518T>C
c.6172T>C (p.Trp2058Arg)
c.5662T>C (p.Trp1888Arg)
c.4102T>C (p.Trp1368Arg)
c.4093T>C (p.Trp1365Arg)
n.6266+13518T>C
 dbSNP gnomAD v3 gnomAD v4
2g.15218904A>TCA345884805NBASc.4287T>A
c.4426+13518T>A
c.812T>A
c.2157T>A
c.6301T>A (p.Trp2101Arg)
c.512+13518T>A (n.512+13518T>A)
c.3444T>A
n.6280+13518T>A
c.6172T>A (p.Trp2058Arg)
c.5662T>A (p.Trp1888Arg)
c.4102T>A (p.Trp1368Arg)
c.4093T>A (p.Trp1365Arg)
n.6266+13518T>A
2g.15218905G>ACA424866974NBASc.4286C>T
c.4426+13517C>T
c.811C>T
c.2156C>T
c.6300C>T (p.Ala2100=)
c.512+13517C>T (n.512+13517C>T)
c.3443C>T
n.6280+13517C>T
c.6171C>T (p.Ala2057=)
c.5661C>T (p.Ala1887=)
c.4101C>T (p.Ala1367=)
c.4092C>T (p.Ala1364=)
n.6266+13517C>T
2g.15218905G>CCA424866975NBASc.4286C>G
c.4426+13517C>G
c.811C>G
c.2156C>G
c.6300C>G (p.Ala2100=)
c.512+13517C>G (n.512+13517C>G)
c.3443C>G
n.6280+13517C>G
c.6171C>G (p.Ala2057=)
c.5661C>G (p.Ala1887=)
c.4101C>G (p.Ala1367=)
c.4092C>G (p.Ala1364=)
n.6266+13517C>G
2g.15218905G>TCA424866976NBASc.4286C>A
c.4426+13517C>A
c.811C>A
c.2156C>A
c.6300C>A (p.Ala2100=)
c.512+13517C>A (n.512+13517C>A)
c.3443C>A
n.6280+13517C>A
c.6171C>A (p.Ala2057=)
c.5661C>A (p.Ala1887=)
c.4101C>A (p.Ala1367=)
c.4092C>A (p.Ala1364=)
n.6266+13517C>A
 ClinVar gnomAD v4
2g.15218906G>ACA345884813NBASc.4285C>T
c.4426+13516C>T
c.810C>T
c.2155C>T
c.6299C>T (p.Ala2100Val)
c.512+13516C>T (n.512+13516C>T)
c.3442C>T
n.6280+13516C>T
c.6170C>T (p.Ala2057Val)
c.5660C>T (p.Ala1887Val)
c.4100C>T (p.Ala1367Val)
c.4091C>T (p.Ala1364Val)
n.6266+13516C>T
2g.15218906G>CCA345884815NBASc.4285C>G
c.4426+13516C>G
c.810C>G
c.2155C>G
c.6299C>G (p.Ala2100Gly)
c.512+13516C>G (n.512+13516C>G)
c.3442C>G
n.6280+13516C>G
c.6170C>G (p.Ala2057Gly)
c.5660C>G (p.Ala1887Gly)
c.4100C>G (p.Ala1367Gly)
c.4091C>G (p.Ala1364Gly)
n.6266+13516C>G
 gnomAD v4
2g.15218906G>TCA345884818NBASc.4285C>A
c.4426+13516C>A
c.810C>A
c.2155C>A
c.6299C>A (p.Ala2100Asp)
c.512+13516C>A (n.512+13516C>A)
c.3442C>A
n.6280+13516C>A
c.6170C>A (p.Ala2057Asp)
c.5660C>A (p.Ala1887Asp)
c.4100C>A (p.Ala1367Asp)
c.4091C>A (p.Ala1364Asp)
n.6266+13516C>A
2g.15218907C>ACA1535049NBASc.4284G>T
c.4426+13515G>T
c.809G>T
c.2154G>T
c.6298G>T (p.Ala2100Ser)
c.512+13515G>T (n.512+13515G>T)
c.3441G>T
n.6280+13515G>T
c.6169G>T (p.Ala2057Ser)
c.5659G>T (p.Ala1887Ser)
c.4099G>T (p.Ala1367Ser)
c.4090G>T (p.Ala1364Ser)
n.6266+13515G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218907C=CA2490796242NBASc.4284G=
c.4426+13515G=
c.809G=
c.2154G=
c.6298G= (p.Ala2100=)
c.512+13515G= (n.512+13515G=)
c.3441G=
n.6280+13515G=
c.6169G= (p.Ala2057=)
c.5659G= (p.Ala1887=)
c.4099G= (p.Ala1367=)
c.4090G= (p.Ala1364=)
n.6266+13515G=
2g.15218907C>GCA345884822NBASc.4284G>C
c.4426+13515G>C
c.809G>C
c.2154G>C
c.6298G>C (p.Ala2100Pro)
c.512+13515G>C (n.512+13515G>C)
c.3441G>C
n.6280+13515G>C
c.6169G>C (p.Ala2057Pro)
c.5659G>C (p.Ala1887Pro)
c.4099G>C (p.Ala1367Pro)
c.4090G>C (p.Ala1364Pro)
n.6266+13515G>C
 gnomAD v4
2g.15218907C>TCA1535048NBASc.4284G>A
c.4426+13515G>A
c.809G>A
c.2154G>A
c.6298G>A (p.Ala2100Thr)
c.512+13515G>A (n.512+13515G>A)
c.3441G>A
n.6280+13515G>A
c.6169G>A (p.Ala2057Thr)
c.5659G>A (p.Ala1887Thr)
c.4099G>A (p.Ala1367Thr)
c.4090G>A (p.Ala1364Thr)
n.6266+13515G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218908G>ACA424866977NBASc.4283C>T
c.4426+13514C>T
c.808C>T
c.2153C>T
c.6297C>T (p.Asp2099=)
c.512+13514C>T (n.512+13514C>T)
c.3440C>T
n.6280+13514C>T
c.6168C>T (p.Asp2056=)
c.5658C>T (p.Asp1886=)
c.4098C>T (p.Asp1366=)
c.4089C>T (p.Asp1363=)
n.6266+13514C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15218908G>CCA345884826NBASc.4283C>G
c.4426+13514C>G
c.808C>G
c.2153C>G
c.6297C>G (p.Asp2099Glu)
c.512+13514C>G (n.512+13514C>G)
c.3440C>G
n.6280+13514C>G
c.6168C>G (p.Asp2056Glu)
c.5658C>G (p.Asp1886Glu)
c.4098C>G (p.Asp1366Glu)
c.4089C>G (p.Asp1363Glu)
n.6266+13514C>G
2g.15218908G=CA2490796243NBASc.4283C=
c.4426+13514C=
c.808C=
c.2153C=
c.6297C= (p.Asp2099=)
c.512+13514C= (n.512+13514C=)
c.3440C=
n.6280+13514C=
c.6168C= (p.Asp2056=)
c.5658C= (p.Asp1886=)
c.4098C= (p.Asp1366=)
c.4089C= (p.Asp1363=)
n.6266+13514C=
2g.15218908G>TCA345884827NBASc.4283C>A
c.4426+13514C>A
c.808C>A
c.2153C>A
c.6297C>A (p.Asp2099Glu)
c.512+13514C>A (n.512+13514C>A)
c.3440C>A
n.6280+13514C>A
c.6168C>A (p.Asp2056Glu)
c.5658C>A (p.Asp1886Glu)
c.4098C>A (p.Asp1366Glu)
c.4089C>A (p.Asp1363Glu)
n.6266+13514C>A
2g.15218909T>ACA345884830NBASc.4282A>T
c.4426+13513A>T
c.807A>T
c.2152A>T
c.6296A>T (p.Asp2099Val)
c.512+13513A>T (n.512+13513A>T)
c.3439A>T
n.6280+13513A>T
c.6167A>T (p.Asp2056Val)
c.5657A>T (p.Asp1886Val)
c.4097A>T (p.Asp1366Val)
c.4088A>T (p.Asp1363Val)
n.6266+13513A>T
 gnomAD v4
2g.15218909T>CCA345884834NBASc.4282A>G
c.4426+13513A>G
c.807A>G
c.2152A>G
c.6296A>G (p.Asp2099Gly)
c.512+13513A>G (n.512+13513A>G)
c.3439A>G
n.6280+13513A>G
c.6167A>G (p.Asp2056Gly)
c.5657A>G (p.Asp1886Gly)
c.4097A>G (p.Asp1366Gly)
c.4088A>G (p.Asp1363Gly)
n.6266+13513A>G
2g.15218909T>GCA345884835NBASc.4282A>C
c.4426+13513A>C
c.807A>C
c.2152A>C
c.6296A>C (p.Asp2099Ala)
c.512+13513A>C (n.512+13513A>C)
c.3439A>C
n.6280+13513A>C
c.6167A>C (p.Asp2056Ala)
c.5657A>C (p.Asp1886Ala)
c.4097A>C (p.Asp1366Ala)
c.4088A>C (p.Asp1363Ala)
n.6266+13513A>C
2g.15218910C>ACA345884838NBASc.4281G>T
c.4426+13512G>T
c.806G>T
c.2151G>T
c.6295G>T (p.Asp2099Tyr)
c.512+13512G>T (n.512+13512G>T)
c.3438G>T
n.6280+13512G>T
c.6166G>T (p.Asp2056Tyr)
c.5656G>T (p.Asp1886Tyr)
c.4096G>T (p.Asp1366Tyr)
c.4087G>T (p.Asp1363Tyr)
n.6266+13512G>T
 dbSNP
2g.15218910C=CA2490796244NBASc.4281G=
c.4426+13512G=
c.806G=
c.2151G=
c.6295G= (p.Asp2099=)
c.512+13512G= (n.512+13512G=)
c.3438G=
n.6280+13512G=
c.6166G= (p.Asp2056=)
c.5656G= (p.Asp1886=)
c.4096G= (p.Asp1366=)
c.4087G= (p.Asp1363=)
n.6266+13512G=
2g.15218910C>GCA345884840NBASc.4281G>C
c.4426+13512G>C
c.806G>C
c.2151G>C
c.6295G>C (p.Asp2099His)
c.512+13512G>C (n.512+13512G>C)
c.3438G>C
n.6280+13512G>C
c.6166G>C (p.Asp2056His)
c.5656G>C (p.Asp1886His)
c.4096G>C (p.Asp1366His)
c.4087G>C (p.Asp1363His)
n.6266+13512G>C
2g.15218910C>TCA345884837NBASc.4281G>A
c.4426+13512G>A
c.806G>A
c.2151G>A
c.6295G>A (p.Asp2099Asn)
c.512+13512G>A (n.512+13512G>A)
c.3438G>A
n.6280+13512G>A
c.6166G>A (p.Asp2056Asn)
c.5656G>A (p.Asp1886Asn)
c.4096G>A (p.Asp1366Asn)
c.4087G>A (p.Asp1363Asn)
n.6266+13512G>A
2g.15218911A>CCA345884842NBASc.4280T>G
c.4426+13511T>G
c.805T>G
c.2150T>G
c.6294T>G (p.Asp2098Glu)
c.512+13511T>G (n.512+13511T>G)
c.3437T>G
n.6280+13511T>G
c.6165T>G (p.Asp2055Glu)
c.5655T>G (p.Asp1885Glu)
c.4095T>G (p.Asp1365Glu)
c.4086T>G (p.Asp1362Glu)
n.6266+13511T>G
2g.15218911A>GCA424866978NBASc.4280T>C
c.4426+13511T>C
c.805T>C
c.2150T>C
c.6294T>C (p.Asp2098=)
c.512+13511T>C (n.512+13511T>C)
c.3437T>C
n.6280+13511T>C
c.6165T>C (p.Asp2055=)
c.5655T>C (p.Asp1885=)
c.4095T>C (p.Asp1365=)
c.4086T>C (p.Asp1362=)
n.6266+13511T>C
2g.15218911A>TCA345884843NBASc.4280T>A
c.4426+13511T>A
c.805T>A
c.2150T>A
c.6294T>A (p.Asp2098Glu)
c.512+13511T>A (n.512+13511T>A)
c.3437T>A
n.6280+13511T>A
c.6165T>A (p.Asp2055Glu)
c.5655T>A (p.Asp1885Glu)
c.4095T>A (p.Asp1365Glu)
c.4086T>A (p.Asp1362Glu)
n.6266+13511T>A
2g.15218912T>ACA345884845NBASc.4279A>T
c.4426+13510A>T
c.804A>T
c.2149A>T
c.6293A>T (p.Asp2098Val)
c.512+13510A>T (n.512+13510A>T)
c.3436A>T
n.6280+13510A>T
c.6164A>T (p.Asp2055Val)
c.5654A>T (p.Asp1885Val)
c.4094A>T (p.Asp1365Val)
c.4085A>T (p.Asp1362Val)
n.6266+13510A>T
 gnomAD v4
2g.15218912T>CCA345884846NBASc.4279A>G
c.4426+13510A>G
c.804A>G
c.2149A>G
c.6293A>G (p.Asp2098Gly)
c.512+13510A>G (n.512+13510A>G)
c.3436A>G
n.6280+13510A>G
c.6164A>G (p.Asp2055Gly)
c.5654A>G (p.Asp1885Gly)
c.4094A>G (p.Asp1365Gly)
c.4085A>G (p.Asp1362Gly)
n.6266+13510A>G
2g.15218912T>GCA345884850NBASc.4279A>C
c.4426+13510A>C
c.804A>C
c.2149A>C
c.6293A>C (p.Asp2098Ala)
c.512+13510A>C (n.512+13510A>C)
c.3436A>C
n.6280+13510A>C
c.6164A>C (p.Asp2055Ala)
c.5654A>C (p.Asp1885Ala)
c.4094A>C (p.Asp1365Ala)
c.4085A>C (p.Asp1362Ala)
n.6266+13510A>C
2g.15218913C>ACA345884860NBASc.4278G>T
c.4426+13509G>T
c.803G>T
c.2148G>T
c.6292G>T (p.Asp2098Tyr)
c.512+13509G>T (n.512+13509G>T)
c.3435G>T
n.6280+13509G>T
c.6163G>T (p.Asp2055Tyr)
c.5653G>T (p.Asp1885Tyr)
c.4093G>T (p.Asp1365Tyr)
c.4084G>T (p.Asp1362Tyr)
n.6266+13509G>T
2g.15218913C>GCA345884854NBASc.4278G>C
c.4426+13509G>C
c.803G>C
c.2148G>C
c.6292G>C (p.Asp2098His)
c.512+13509G>C (n.512+13509G>C)
c.3435G>C
n.6280+13509G>C
c.6163G>C (p.Asp2055His)
c.5653G>C (p.Asp1885His)
c.4093G>C (p.Asp1365His)
c.4084G>C (p.Asp1362His)
n.6266+13509G>C
2g.15218913C>TCA345884857NBASc.4278G>A
c.4426+13509G>A
c.803G>A
c.2148G>A
c.6292G>A (p.Asp2098Asn)
c.512+13509G>A (n.512+13509G>A)
c.3435G>A
n.6280+13509G>A
c.6163G>A (p.Asp2055Asn)
c.5653G>A (p.Asp1885Asn)
c.4093G>A (p.Asp1365Asn)
c.4084G>A (p.Asp1362Asn)
n.6266+13509G>A
2g.15218914A>CCA424866979NBASc.4277T>G
c.4426+13508T>G
c.802T>G
c.2147T>G
c.6291T>G (p.Ala2097=)
c.512+13508T>G (n.512+13508T>G)
c.3434T>G
n.6280+13508T>G
c.6162T>G (p.Ala2054=)
c.5652T>G (p.Ala1884=)
c.4092T>G (p.Ala1364=)
c.4083T>G (p.Ala1361=)
n.6266+13508T>G
2g.15218914A>GCA424866980NBASc.4277T>C
c.4426+13508T>C
c.802T>C
c.2147T>C
c.6291T>C (p.Ala2097=)
c.512+13508T>C (n.512+13508T>C)
c.3434T>C
n.6280+13508T>C
c.6162T>C (p.Ala2054=)
c.5652T>C (p.Ala1884=)
c.4092T>C (p.Ala1364=)
c.4083T>C (p.Ala1361=)
n.6266+13508T>C
 gnomAD v4
2g.15218914A>TCA424866981NBASc.4277T>A
c.4426+13508T>A
c.802T>A
c.2147T>A
c.6291T>A (p.Ala2097=)
c.512+13508T>A (n.512+13508T>A)
c.3434T>A
n.6280+13508T>A
c.6162T>A (p.Ala2054=)
c.5652T>A (p.Ala1884=)
c.4092T>A (p.Ala1364=)
c.4083T>A (p.Ala1361=)
n.6266+13508T>A
2g.15218915G>ACA1535050NBASc.4276C>T
c.4426+13507C>T
c.801C>T
c.2146C>T
c.6290C>T (p.Ala2097Val)
c.512+13507C>T (n.512+13507C>T)
c.3433C>T
n.6280+13507C>T
c.6161C>T (p.Ala2054Val)
c.5651C>T (p.Ala1884Val)
c.4091C>T (p.Ala1364Val)
c.4082C>T (p.Ala1361Val)
n.6266+13507C>T
 dbSNP ExAC
2g.15218915G>CCA345884864NBASc.4276C>G
c.4426+13507C>G
c.801C>G
c.2146C>G
c.6290C>G (p.Ala2097Gly)
c.512+13507C>G (n.512+13507C>G)
c.3433C>G
n.6280+13507C>G
c.6161C>G (p.Ala2054Gly)
c.5651C>G (p.Ala1884Gly)
c.4091C>G (p.Ala1364Gly)
c.4082C>G (p.Ala1361Gly)
n.6266+13507C>G
2g.15218915G=CA2490796245NBASc.4276C=
c.4426+13507C=
c.801C=
c.2146C=
c.6290C= (p.Ala2097=)
c.512+13507C= (n.512+13507C=)
c.3433C=
n.6280+13507C=
c.6161C= (p.Ala2054=)
c.5651C= (p.Ala1884=)
c.4091C= (p.Ala1364=)
c.4082C= (p.Ala1361=)
n.6266+13507C=
2g.15218915G>TCA345884873NBASc.4276C>A
c.4426+13507C>A
c.801C>A
c.2146C>A
c.6290C>A (p.Ala2097Asp)
c.512+13507C>A (n.512+13507C>A)
c.3433C>A
n.6280+13507C>A
c.6161C>A (p.Ala2054Asp)
c.5651C>A (p.Ala1884Asp)
c.4091C>A (p.Ala1364Asp)
c.4082C>A (p.Ala1361Asp)
n.6266+13507C>A
2g.15218916C>ACA345884874NBASc.4275G>T
c.4426+13506G>T
c.800G>T
c.2145G>T
c.6289G>T (p.Ala2097Ser)
c.512+13506G>T (n.512+13506G>T)
c.3432G>T
n.6280+13506G>T
c.6160G>T (p.Ala2054Ser)
c.5650G>T (p.Ala1884Ser)
c.4090G>T (p.Ala1364Ser)
c.4081G>T (p.Ala1361Ser)
n.6266+13506G>T
2g.15218916C>GCA345884875NBASc.4275G>C
c.4426+13506G>C
c.800G>C
c.2145G>C
c.6289G>C (p.Ala2097Pro)
c.512+13506G>C (n.512+13506G>C)
c.3432G>C
n.6280+13506G>C
c.6160G>C (p.Ala2054Pro)
c.5650G>C (p.Ala1884Pro)
c.4090G>C (p.Ala1364Pro)
c.4081G>C (p.Ala1361Pro)
n.6266+13506G>C
2g.15218916C>TCA345884876NBASc.4275G>A
c.4426+13506G>A
c.800G>A
c.2145G>A
c.6289G>A (p.Ala2097Thr)
c.512+13506G>A (n.512+13506G>A)
c.3432G>A
n.6280+13506G>A
c.6160G>A (p.Ala2054Thr)
c.5650G>A (p.Ala1884Thr)
c.4090G>A (p.Ala1364Thr)
c.4081G>A (p.Ala1361Thr)
n.6266+13506G>A
 ClinVar gnomAD v4
2g.15218917A>CCA345884878NBASc.4274T>G
c.4426+13505T>G
c.799T>G
c.2144T>G
c.6288T>G (p.Cys2096Trp)
c.512+13505T>G (n.512+13505T>G)
c.3431T>G
n.6280+13505T>G
c.6159T>G (p.Cys2053Trp)
c.5649T>G (p.Cys1883Trp)
c.4089T>G (p.Cys1363Trp)
c.4080T>G (p.Cys1360Trp)
n.6266+13505T>G
2g.15218917A>GCA424866982NBASc.4274T>C
c.4426+13505T>C
c.799T>C
c.2144T>C
c.6288T>C (p.Cys2096=)
c.512+13505T>C (n.512+13505T>C)
c.3431T>C
n.6280+13505T>C
c.6159T>C (p.Cys2053=)
c.5649T>C (p.Cys1883=)
c.4089T>C (p.Cys1363=)
c.4080T>C (p.Cys1360=)
n.6266+13505T>C
2g.15218917A>TCA345884880NBASc.4274T>A
c.4426+13505T>A
c.799T>A
c.2144T>A
c.6288T>A (p.Cys2096Ter)
c.512+13505T>A (n.512+13505T>A)
c.3431T>A
n.6280+13505T>A
c.6159T>A (p.Cys2053Ter)
c.5649T>A (p.Cys1883Ter)
c.4089T>A (p.Cys1363Ter)
c.4080T>A (p.Cys1360Ter)
n.6266+13505T>A
2g.15218918C>ACA345884885NBASc.4273G>T
c.4426+13504G>T
c.798G>T
c.2143G>T
c.6287G>T (p.Cys2096Phe)
c.512+13504G>T (n.512+13504G>T)
c.3430G>T
n.6280+13504G>T
c.6158G>T (p.Cys2053Phe)
c.5648G>T (p.Cys1883Phe)
c.4088G>T (p.Cys1363Phe)
c.4079G>T (p.Cys1360Phe)
n.6266+13504G>T
2g.15218918C=CA2490796246NBASc.4273G=
c.4426+13504G=
c.798G=
c.2143G=
c.6287G= (p.Cys2096=)
c.512+13504G= (n.512+13504G=)
c.3430G=
n.6280+13504G=
c.6158G= (p.Cys2053=)
c.5648G= (p.Cys1883=)
c.4088G= (p.Cys1363=)
c.4079G= (p.Cys1360=)
n.6266+13504G=
2g.15218918C>GCA345884890NBASc.4273G>C
c.4426+13504G>C
c.798G>C
c.2143G>C
c.6287G>C (p.Cys2096Ser)
c.512+13504G>C (n.512+13504G>C)
c.3430G>C
n.6280+13504G>C
c.6158G>C (p.Cys2053Ser)
c.5648G>C (p.Cys1883Ser)
c.4088G>C (p.Cys1363Ser)
c.4079G>C (p.Cys1360Ser)
n.6266+13504G>C
2g.15218918C>TCA345884888NBASc.4273G>A
c.4426+13504G>A
c.798G>A
c.2143G>A
c.6287G>A (p.Cys2096Tyr)
c.512+13504G>A (n.512+13504G>A)
c.3430G>A
n.6280+13504G>A
c.6158G>A (p.Cys2053Tyr)
c.5648G>A (p.Cys1883Tyr)
c.4088G>A (p.Cys1363Tyr)
c.4079G>A (p.Cys1360Tyr)
n.6266+13504G>A
 dbSNP gnomAD v4
2g.15218919A=CA2490796247NBASc.4272T=
c.4426+13503T=
c.797T=
c.2142T=
c.6286T= (p.Cys2096=)
c.512+13503T= (n.512+13503T=)
c.3429T=
n.6280+13503T=
c.6157T= (p.Cys2053=)
c.5647T= (p.Cys1883=)
c.4087T= (p.Cys1363=)
c.4078T= (p.Cys1360=)
n.6266+13503T=
2g.15218919A>CCA345884892NBASc.4272T>G
c.4426+13503T>G
c.797T>G
c.2142T>G
c.6286T>G (p.Cys2096Gly)
c.512+13503T>G (n.512+13503T>G)
c.3429T>G
n.6280+13503T>G
c.6157T>G (p.Cys2053Gly)
c.5647T>G (p.Cys1883Gly)
c.4087T>G (p.Cys1363Gly)
c.4078T>G (p.Cys1360Gly)
n.6266+13503T>G
2g.15218919A>GCA345884894NBASc.4272T>C
c.4426+13503T>C
c.797T>C
c.2142T>C
c.6286T>C (p.Cys2096Arg)
c.512+13503T>C (n.512+13503T>C)
c.3429T>C
n.6280+13503T>C
c.6157T>C (p.Cys2053Arg)
c.5647T>C (p.Cys1883Arg)
c.4087T>C (p.Cys1363Arg)
c.4078T>C (p.Cys1360Arg)
n.6266+13503T>C
2g.15218919A>TCA345884898NBASc.4272T>A
c.4426+13503T>A
c.797T>A
c.2142T>A
c.6286T>A (p.Cys2096Ser)
c.512+13503T>A (n.512+13503T>A)
c.3429T>A
n.6280+13503T>A
c.6157T>A (p.Cys2053Ser)
c.5647T>A (p.Cys1883Ser)
c.4087T>A (p.Cys1363Ser)
c.4078T>A (p.Cys1360Ser)
n.6266+13503T>A
2g.15218920G>ACA1535051NBASc.4271C>T
c.4426+13502C>T
c.796C>T
c.2141C>T
c.6285C>T (p.Phe2095=)
c.512+13502C>T (n.512+13502C>T)
c.3428C>T
n.6280+13502C>T
c.6156C>T (p.Phe2052=)
c.5646C>T (p.Phe1882=)
c.4086C>T (p.Phe1362=)
c.4077C>T (p.Phe1359=)
n.6266+13502C>T
 ClinVar dbSNP ExAC gnomAD v4
2g.15218920G>CCA345884905NBASc.4271C>G
c.4426+13502C>G
c.796C>G
c.2141C>G
c.6285C>G (p.Phe2095Leu)
c.512+13502C>G (n.512+13502C>G)
c.3428C>G
n.6280+13502C>G
c.6156C>G (p.Phe2052Leu)
c.5646C>G (p.Phe1882Leu)
c.4086C>G (p.Phe1362Leu)
c.4077C>G (p.Phe1359Leu)
n.6266+13502C>G
2g.15218920G=CA2490796248NBASc.4271C=
c.4426+13502C=
c.796C=
c.2141C=
c.6285C= (p.Phe2095=)
c.512+13502C= (n.512+13502C=)
c.3428C=
n.6280+13502C=
c.6156C= (p.Phe2052=)
c.5646C= (p.Phe1882=)
c.4086C= (p.Phe1362=)
c.4077C= (p.Phe1359=)
n.6266+13502C=
2g.15218920G>TCA345884908NBASc.4271C>A
c.4426+13502C>A
c.796C>A
c.2141C>A
c.6285C>A (p.Phe2095Leu)
c.512+13502C>A (n.512+13502C>A)
c.3428C>A
n.6280+13502C>A
c.6156C>A (p.Phe2052Leu)
c.5646C>A (p.Phe1882Leu)
c.4086C>A (p.Phe1362Leu)
c.4077C>A (p.Phe1359Leu)
n.6266+13502C>A
2g.15218921_15218925dupCA758915191NBASc.4267_4271dup
c.4426+13498_4426+13502dup
c.792_796dup
c.2137_2141dup
c.6281_6285dup (p.Cys2096LeufsTer26)
c.512+13498_512+13502dup (n.512+13498_512+13502dup)
c.3424_3428dup
n.6280+13498_6280+13502dup
c.6152_6156dup (p.Cys2053LeufsTer26)
c.5642_5646dup (p.Cys1883LeufsTer26)
c.4082_4086dup (p.Cys1363LeufsTer26)
c.4073_4077dup (p.Cys1360LeufsTer26)
n.6266+13498_6266+13502dup
 dbSNP
2g.15218920_15218921insTTCA531314714NBASc.4270_4271insAA
c.4426+13501_4426+13502insAA
c.795_796insAA
c.2140_2141insAA
c.6284_6285insAA (p.Phe2095LeufsTer26)
c.512+13501_512+13502insAA (n.512+13501_512+13502insAA)
c.3427_3428insAA
n.6280+13501_6280+13502insAA
c.6155_6156insAA (p.Phe2052LeufsTer26)
c.5645_5646insAA (p.Phe1882LeufsTer26)
c.4085_4086insAA (p.Phe1362LeufsTer26)
c.4076_4077insAA (p.Phe1359LeufsTer26)
n.6266+13501_6266+13502insAA
 dbSNP gnomAD v2
2g.15218921A=CA2490796249NBASc.4270T=
c.4426+13501T=
c.795T=
c.2140T=
c.6284T= (p.Phe2095=)
c.512+13501T= (n.512+13501T=)
c.3427T=
n.6280+13501T=
c.6155T= (p.Phe2052=)
c.5645T= (p.Phe1882=)
c.4085T= (p.Phe1362=)
c.4076T= (p.Phe1359=)
n.6266+13501T=
2g.15218921A>CCA345884911NBASc.4270T>G
c.4426+13501T>G
c.795T>G
c.2140T>G
c.6284T>G (p.Phe2095Cys)
c.512+13501T>G (n.512+13501T>G)
c.3427T>G
n.6280+13501T>G
c.6155T>G (p.Phe2052Cys)
c.5645T>G (p.Phe1882Cys)
c.4085T>G (p.Phe1362Cys)
c.4076T>G (p.Phe1359Cys)
n.6266+13501T>G
2g.15218921A>GCA1535052NBASc.4270T>C
c.4426+13501T>C
c.795T>C
c.2140T>C
c.6284T>C (p.Phe2095Ser)
c.512+13501T>C (n.512+13501T>C)
c.3427T>C
n.6280+13501T>C
c.6155T>C (p.Phe2052Ser)
c.5645T>C (p.Phe1882Ser)
c.4085T>C (p.Phe1362Ser)
c.4076T>C (p.Phe1359Ser)
n.6266+13501T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218921A>TCA345884912NBASc.4270T>A
c.4426+13501T>A
c.795T>A
c.2140T>A
c.6284T>A (p.Phe2095Tyr)
c.512+13501T>A (n.512+13501T>A)
c.3427T>A
n.6280+13501T>A
c.6155T>A (p.Phe2052Tyr)
c.5645T>A (p.Phe1882Tyr)
c.4085T>A (p.Phe1362Tyr)
c.4076T>A (p.Phe1359Tyr)
n.6266+13501T>A
2g.15218921_15218922insGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTGCA531314715NBASc.4269_4270insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
c.4426+13500_4426+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
c.794_795insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
c.2139_2140insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
c.6283_6284insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (p.Phe2095SerfsTer41)
c.512+13500_512+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (n.512+13500_512+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC)
c.3426_3427insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
n.6280+13500_6280+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
c.6154_6155insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (p.Phe2052SerfsTer41)
c.5644_5645insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (p.Phe1882SerfsTer41)
c.4084_4085insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (p.Phe1362SerfsTer41)
c.4075_4076insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC (p.Phe1359SerfsTer41)
n.6266+13500_6266+13501insCAAGACCAGCCTGGCACCTGGCCAACATGACAAAACCCCATCTCTAC
 gnomAD v2
2g.15218922A=CA2490796250NBASc.4269T=
c.4426+13500T=
c.794T=
c.2139T=
c.6283T= (p.Phe2095=)
c.512+13500T= (n.512+13500T=)
c.3426T=
n.6280+13500T=
c.6154T= (p.Phe2052=)
c.5644T= (p.Phe1882=)
c.4084T= (p.Phe1362=)
c.4075T= (p.Phe1359=)
n.6266+13500T=
2g.15218922A>CCA345884914NBASc.4269T>G
c.4426+13500T>G
c.794T>G
c.2139T>G
c.6283T>G (p.Phe2095Val)
c.512+13500T>G (n.512+13500T>G)
c.3426T>G
n.6280+13500T>G
c.6154T>G (p.Phe2052Val)
c.5644T>G (p.Phe1882Val)
c.4084T>G (p.Phe1362Val)
c.4075T>G (p.Phe1359Val)
n.6266+13500T>G
2g.15218922A>GCA345884917NBASc.4269T>C
c.4426+13500T>C
c.794T>C
c.2139T>C
c.6283T>C (p.Phe2095Leu)
c.512+13500T>C (n.512+13500T>C)
c.3426T>C
n.6280+13500T>C
c.6154T>C (p.Phe2052Leu)
c.5644T>C (p.Phe1882Leu)
c.4084T>C (p.Phe1362Leu)
c.4075T>C (p.Phe1359Leu)
n.6266+13500T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218922A>TCA1535053NBASc.4269T>A
c.4426+13500T>A
c.794T>A
c.2139T>A
c.6283T>A (p.Phe2095Ile)
c.512+13500T>A (n.512+13500T>A)
c.3426T>A
n.6280+13500T>A
c.6154T>A (p.Phe2052Ile)
c.5644T>A (p.Phe1882Ile)
c.4084T>A (p.Phe1362Ile)
c.4075T>A (p.Phe1359Ile)
n.6266+13500T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218923A=CA2490796251NBASc.4268T=
c.4426+13499T=
c.793T=
c.2138T=
c.6282T= (p.Pro2094=)
c.512+13499T= (n.512+13499T=)
c.3425T=
n.6280+13499T=
c.6153T= (p.Pro2051=)
c.5643T= (p.Pro1881=)
c.4083T= (p.Pro1361=)
c.4074T= (p.Pro1358=)
n.6266+13499T=
2g.15218923A>CCA424866983NBASc.4268T>G
c.4426+13499T>G
c.793T>G
c.2138T>G
c.6282T>G (p.Pro2094=)
c.512+13499T>G (n.512+13499T>G)
c.3425T>G
n.6280+13499T>G
c.6153T>G (p.Pro2051=)
c.5643T>G (p.Pro1881=)
c.4083T>G (p.Pro1361=)
c.4074T>G (p.Pro1358=)
n.6266+13499T>G
2g.15218923A>GCA424866984NBASc.4268T>C
c.4426+13499T>C
c.793T>C
c.2138T>C
c.6282T>C (p.Pro2094=)
c.512+13499T>C (n.512+13499T>C)
c.3425T>C
n.6280+13499T>C
c.6153T>C (p.Pro2051=)
c.5643T>C (p.Pro1881=)
c.4083T>C (p.Pro1361=)
c.4074T>C (p.Pro1358=)
n.6266+13499T>C
2g.15218923A>TCA424866985NBASc.4268T>A
c.4426+13499T>A
c.793T>A
c.2138T>A
c.6282T>A (p.Pro2094=)
c.512+13499T>A (n.512+13499T>A)
c.3425T>A
n.6280+13499T>A
c.6153T>A (p.Pro2051=)
c.5643T>A (p.Pro1881=)
c.4083T>A (p.Pro1361=)
c.4074T>A (p.Pro1358=)
n.6266+13499T>A
2g.15218923_15218924insCTCCTCA531314716NBASc.4267_4268insAGGAG
c.4426+13498_4426+13499insAGGAG
c.792_793insAGGAG
c.2137_2138insAGGAG
c.6281_6282insAGGAG (p.Phe2095GlyfsTer27)
c.512+13498_512+13499insAGGAG (n.512+13498_512+13499insAGGAG)
c.3424_3425insAGGAG
n.6280+13498_6280+13499insAGGAG
c.6152_6153insAGGAG (p.Phe2052GlyfsTer27)
c.5642_5643insAGGAG (p.Phe1882GlyfsTer27)
c.4082_4083insAGGAG (p.Phe1362GlyfsTer27)
c.4073_4074insAGGAG (p.Phe1359GlyfsTer27)
n.6266+13498_6266+13499insAGGAG
 dbSNP gnomAD v2
2g.15218924G>ACA1535054NBASc.4267C>T
c.4426+13498C>T
c.792C>T
c.2137C>T
c.6281C>T (p.Pro2094Leu)
c.512+13498C>T (n.512+13498C>T)
c.3424C>T
n.6280+13498C>T
c.6152C>T (p.Pro2051Leu)
c.5642C>T (p.Pro1881Leu)
c.4082C>T (p.Pro1361Leu)
c.4073C>T (p.Pro1358Leu)
n.6266+13498C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218924G>CCA345884936NBASc.4267C>G
c.4426+13498C>G
c.792C>G
c.2137C>G
c.6281C>G (p.Pro2094Arg)
c.512+13498C>G (n.512+13498C>G)
c.3424C>G
n.6280+13498C>G
c.6152C>G (p.Pro2051Arg)
c.5642C>G (p.Pro1881Arg)
c.4082C>G (p.Pro1361Arg)
c.4073C>G (p.Pro1358Arg)
n.6266+13498C>G
 ClinVar dbSNP gnomAD v4
2g.15218924G=CA2490796252NBASc.4267C=
c.4426+13498C=
c.792C=
c.2137C=
c.6281C= (p.Pro2094=)
c.512+13498C= (n.512+13498C=)
c.3424C=
n.6280+13498C=
c.6152C= (p.Pro2051=)
c.5642C= (p.Pro1881=)
c.4082C= (p.Pro1361=)
c.4073C= (p.Pro1358=)
n.6266+13498C=
2g.15218924G>TCA345884934NBASc.4267C>A
c.4426+13498C>A
c.792C>A
c.2137C>A
c.6281C>A (p.Pro2094His)
c.512+13498C>A (n.512+13498C>A)
c.3424C>A
n.6280+13498C>A
c.6152C>A (p.Pro2051His)
c.5642C>A (p.Pro1881His)
c.4082C>A (p.Pro1361His)
c.4073C>A (p.Pro1358His)
n.6266+13498C>A
2g.15218925_15218928delCA2576680243NBASc.4264_4267del
c.4426+13495_4426+13498del
c.789_792del
c.2134_2137del
c.6278_6281del (p.Arg2093LeufsTer26)
c.512+13495_512+13498del (n.512+13495_512+13498del)
c.3421_3424del
n.6280+13495_6280+13498del
c.6149_6152del (p.Arg2050LeufsTer26)
c.5639_5642del (p.Arg1880LeufsTer26)
c.4079_4082del (p.Arg1360LeufsTer26)
c.4070_4073del (p.Arg1357LeufsTer26)
n.6266+13495_6266+13498del
2g.15218925G>ACA345884939NBASc.4266C>T
c.4426+13497C>T
c.791C>T
c.2136C>T
c.6280C>T (p.Pro2094Ser)
c.512+13497C>T (n.512+13497C>T)
c.3423C>T
n.6280+13497C>T
c.6151C>T (p.Pro2051Ser)
c.5641C>T (p.Pro1881Ser)
c.4081C>T (p.Pro1361Ser)
c.4072C>T (p.Pro1358Ser)
n.6266+13497C>T
2g.15218925G>CCA1535056NBASc.4266C>G
c.4426+13497C>G
c.791C>G
c.2136C>G
c.6280C>G (p.Pro2094Ala)
c.512+13497C>G (n.512+13497C>G)
c.3423C>G
n.6280+13497C>G
c.6151C>G (p.Pro2051Ala)
c.5641C>G (p.Pro1881Ala)
c.4081C>G (p.Pro1361Ala)
c.4072C>G (p.Pro1358Ala)
n.6266+13497C>G
 dbSNP ExAC gnomAD v2
2g.15218925G=CA2490796253NBASc.4266C=
c.4426+13497C=
c.791C=
c.2136C=
c.6280C= (p.Pro2094=)
c.512+13497C= (n.512+13497C=)
c.3423C=
n.6280+13497C=
c.6151C= (p.Pro2051=)
c.5641C= (p.Pro1881=)
c.4081C= (p.Pro1361=)
c.4072C= (p.Pro1358=)
n.6266+13497C=
2g.15218925G>TCA1535055NBASc.4266C>A
c.4426+13497C>A
c.791C>A
c.2136C>A
c.6280C>A (p.Pro2094Thr)
c.512+13497C>A (n.512+13497C>A)
c.3423C>A
n.6280+13497C>A
c.6151C>A (p.Pro2051Thr)
c.5641C>A (p.Pro1881Thr)
c.4081C>A (p.Pro1361Thr)
c.4072C>A (p.Pro1358Thr)
n.6266+13497C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218926C>ACA424866986NBASc.4265G>T
c.4426+13496G>T
c.790G>T
c.2135G>T
c.6279G>T (p.Arg2093=)
c.512+13496G>T (n.512+13496G>T)
c.3422G>T
n.6280+13496G>T
c.6150G>T (p.Arg2050=)
c.5640G>T (p.Arg1880=)
c.4080G>T (p.Arg1360=)
c.4071G>T (p.Arg1357=)
n.6266+13496G>T
2g.15218926C=CA2490796254NBASc.4265G=
c.4426+13496G=
c.790G=
c.2135G=
c.6279G= (p.Arg2093=)
c.512+13496G= (n.512+13496G=)
c.3422G=
n.6280+13496G=
c.6150G= (p.Arg2050=)
c.5640G= (p.Arg1880=)
c.4080G= (p.Arg1360=)
c.4071G= (p.Arg1357=)
n.6266+13496G=
2g.15218926C>GCA424866987NBASc.4265G>C
c.4426+13496G>C
c.790G>C
c.2135G>C
c.6279G>C (p.Arg2093=)
c.512+13496G>C (n.512+13496G>C)
c.3422G>C
n.6280+13496G>C
c.6150G>C (p.Arg2050=)
c.5640G>C (p.Arg1880=)
c.4080G>C (p.Arg1360=)
c.4071G>C (p.Arg1357=)
n.6266+13496G>C
2g.15218926C>TCA1535057NBASc.4265G>A
c.4426+13496G>A
c.790G>A
c.2135G>A
c.6279G>A (p.Arg2093=)
c.512+13496G>A (n.512+13496G>A)
c.3422G>A
n.6280+13496G>A
c.6150G>A (p.Arg2050=)
c.5640G>A (p.Arg1880=)
c.4080G>A (p.Arg1360=)
c.4071G>A (p.Arg1357=)
n.6266+13496G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218927C>ACA345884962NBASc.4264G>T
c.4426+13495G>T
c.789G>T
c.2134G>T
c.6278G>T (p.Arg2093Leu)
c.512+13495G>T (n.512+13495G>T)
c.3421G>T
n.6280+13495G>T
c.6149G>T (p.Arg2050Leu)
c.5639G>T (p.Arg1880Leu)
c.4079G>T (p.Arg1360Leu)
c.4070G>T (p.Arg1357Leu)
n.6266+13495G>T
2g.15218927C=CA2490796255NBASc.4264G=
c.4426+13495G=
c.789G=
c.2134G=
c.6278G= (p.Arg2093=)
c.512+13495G= (n.512+13495G=)
c.3421G=
n.6280+13495G=
c.6149G= (p.Arg2050=)
c.5639G= (p.Arg1880=)
c.4079G= (p.Arg1360=)
c.4070G= (p.Arg1357=)
n.6266+13495G=
2g.15218927C>GCA345884968NBASc.4264G>C
c.4426+13495G>C
c.789G>C
c.2134G>C
c.6278G>C (p.Arg2093Pro)
c.512+13495G>C (n.512+13495G>C)
c.3421G>C
n.6280+13495G>C
c.6149G>C (p.Arg2050Pro)
c.5639G>C (p.Arg1880Pro)
c.4079G>C (p.Arg1360Pro)
c.4070G>C (p.Arg1357Pro)
n.6266+13495G>C
2g.15218927C>TCA1535058NBASc.4264G>A
c.4426+13495G>A
c.789G>A
c.2134G>A
c.6278G>A (p.Arg2093Gln)
c.512+13495G>A (n.512+13495G>A)
c.3421G>A
n.6280+13495G>A
c.6149G>A (p.Arg2050Gln)
c.5639G>A (p.Arg1880Gln)
c.4079G>A (p.Arg1360Gln)
c.4070G>A (p.Arg1357Gln)
n.6266+13495G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15218928G>ACA1535060NBASc.4263C>T
c.4426+13494C>T
c.788C>T
c.2133C>T
c.6277C>T (p.Arg2093Trp)
c.512+13494C>T (n.512+13494C>T)
c.3420C>T
n.6280+13494C>T
c.6148C>T (p.Arg2050Trp)
c.5638C>T (p.Arg1880Trp)
c.4078C>T (p.Arg1360Trp)
c.4069C>T (p.Arg1357Trp)
n.6266+13494C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218928G>CCA1535059NBASc.4263C>G
c.4426+13494C>G
c.788C>G
c.2133C>G
c.6277C>G (p.Arg2093Gly)
c.512+13494C>G (n.512+13494C>G)
c.3420C>G
n.6280+13494C>G
c.6148C>G (p.Arg2050Gly)
c.5638C>G (p.Arg1880Gly)
c.4078C>G (p.Arg1360Gly)
c.4069C>G (p.Arg1357Gly)
n.6266+13494C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218928G=CA2490796256NBASc.4263C=
c.4426+13494C=
c.788C=
c.2133C=
c.6277C= (p.Arg2093=)
c.512+13494C= (n.512+13494C=)
c.3420C=
n.6280+13494C=
c.6148C= (p.Arg2050=)
c.5638C= (p.Arg1880=)
c.4078C= (p.Arg1360=)
c.4069C= (p.Arg1357=)
n.6266+13494C=
2g.15218928G>TCA424866988NBASc.4263C>A
c.4426+13494C>A
c.788C>A
c.2133C>A
c.6277C>A (p.Arg2093=)
c.512+13494C>A (n.512+13494C>A)
c.3420C>A
n.6280+13494C>A
c.6148C>A (p.Arg2050=)
c.5638C>A (p.Arg1880=)
c.4078C>A (p.Arg1360=)
c.4069C>A (p.Arg1357=)
n.6266+13494C>A
2g.15218929C>ACA424866989NBASc.4262G>T
c.4426+13493G>T
c.787G>T
c.2132G>T
c.6276G>T (p.Leu2092=)
c.512+13493G>T (n.512+13493G>T)
c.3419G>T
n.6280+13493G>T
c.6147G>T (p.Leu2049=)
c.5637G>T (p.Leu1879=)
c.4077G>T (p.Leu1359=)
c.4068G>T (p.Leu1356=)
n.6266+13493G>T
2g.15218929C=CA2490796257NBASc.4262G=
c.4426+13493G=
c.787G=
c.2132G=
c.6276G= (p.Leu2092=)
c.512+13493G= (n.512+13493G=)
c.3419G=
n.6280+13493G=
c.6147G= (p.Leu2049=)
c.5637G= (p.Leu1879=)
c.4077G= (p.Leu1359=)
c.4068G= (p.Leu1356=)
n.6266+13493G=
2g.15218929C>GCA424866991NBASc.4262G>C
c.4426+13493G>C
c.787G>C
c.2132G>C
c.6276G>C (p.Leu2092=)
c.512+13493G>C (n.512+13493G>C)
c.3419G>C
n.6280+13493G>C
c.6147G>C (p.Leu2049=)
c.5637G>C (p.Leu1879=)
c.4077G>C (p.Leu1359=)
c.4068G>C (p.Leu1356=)
n.6266+13493G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218929C>TCA424866990NBASc.4262G>A
c.4426+13493G>A
c.787G>A
c.2132G>A
c.6276G>A (p.Leu2092=)
c.512+13493G>A (n.512+13493G>A)
c.3419G>A
n.6280+13493G>A
c.6147G>A (p.Leu2049=)
c.5637G>A (p.Leu1879=)
c.4077G>A (p.Leu1359=)
c.4068G>A (p.Leu1356=)
n.6266+13493G>A
 gnomAD v4
2g.15218930A>CCA345884987NBASc.4261T>G
c.4426+13492T>G
c.786T>G
c.2131T>G
c.6275T>G (p.Leu2092Arg)
c.512+13492T>G (n.512+13492T>G)
c.3418T>G
n.6280+13492T>G
c.6146T>G (p.Leu2049Arg)
c.5636T>G (p.Leu1879Arg)
c.4076T>G (p.Leu1359Arg)
c.4067T>G (p.Leu1356Arg)
n.6266+13492T>G
2g.15218930A>GCA345884990NBASc.4261T>C
c.4426+13492T>C
c.786T>C
c.2131T>C
c.6275T>C (p.Leu2092Pro)
c.512+13492T>C (n.512+13492T>C)
c.3418T>C
n.6280+13492T>C
c.6146T>C (p.Leu2049Pro)
c.5636T>C (p.Leu1879Pro)
c.4076T>C (p.Leu1359Pro)
c.4067T>C (p.Leu1356Pro)
n.6266+13492T>C
2g.15218930A>TCA345884986NBASc.4261T>A
c.4426+13492T>A
c.786T>A
c.2131T>A
c.6275T>A (p.Leu2092Gln)
c.512+13492T>A (n.512+13492T>A)
c.3418T>A
n.6280+13492T>A
c.6146T>A (p.Leu2049Gln)
c.5636T>A (p.Leu1879Gln)
c.4076T>A (p.Leu1359Gln)
c.4067T>A (p.Leu1356Gln)
n.6266+13492T>A
2g.15218931G>ACA424866992NBASc.4260C>T
c.4426+13491C>T
c.785C>T
c.2130C>T
c.6274C>T (p.Leu2092=)
c.512+13491C>T (n.512+13491C>T)
c.3417C>T
n.6280+13491C>T
c.6145C>T (p.Leu2049=)
c.5635C>T (p.Leu1879=)
c.4075C>T (p.Leu1359=)
c.4066C>T (p.Leu1356=)
n.6266+13491C>T
2g.15218931G>CCA345884994NBASc.4260C>G
c.4426+13491C>G
c.785C>G
c.2130C>G
c.6274C>G (p.Leu2092Val)
c.512+13491C>G (n.512+13491C>G)
c.3417C>G
n.6280+13491C>G
c.6145C>G (p.Leu2049Val)
c.5635C>G (p.Leu1879Val)
c.4075C>G (p.Leu1359Val)
c.4066C>G (p.Leu1356Val)
n.6266+13491C>G
 gnomAD v4
2g.15218931G>TCA345884996NBASc.4260C>A
c.4426+13491C>A
c.785C>A
c.2130C>A
c.6274C>A (p.Leu2092Met)
c.512+13491C>A (n.512+13491C>A)
c.3417C>A
n.6280+13491C>A
c.6145C>A (p.Leu2049Met)
c.5635C>A (p.Leu1879Met)
c.4075C>A (p.Leu1359Met)
c.4066C>A (p.Leu1356Met)
n.6266+13491C>A
2g.15218932C>ACA345884999NBASc.4259G>T
c.4426+13490G>T
c.784G>T
c.2129G>T
c.6273G>T (p.Trp2091Cys)
c.512+13490G>T (n.512+13490G>T)
c.3416G>T
n.6280+13490G>T
c.6144G>T (p.Trp2048Cys)
c.5634G>T (p.Trp1878Cys)
c.4074G>T (p.Trp1358Cys)
c.4065G>T (p.Trp1355Cys)
n.6266+13490G>T
2g.15218932C>GCA345885003NBASc.4259G>C
c.4426+13490G>C
c.784G>C
c.2129G>C
c.6273G>C (p.Trp2091Cys)
c.512+13490G>C (n.512+13490G>C)
c.3416G>C
n.6280+13490G>C
c.6144G>C (p.Trp2048Cys)
c.5634G>C (p.Trp1878Cys)
c.4074G>C (p.Trp1358Cys)
c.4065G>C (p.Trp1355Cys)
n.6266+13490G>C
2g.15218932C>TCA345885008NBASc.4259G>A
c.4426+13490G>A
c.784G>A
c.2129G>A
c.6273G>A (p.Trp2091Ter)
c.512+13490G>A (n.512+13490G>A)
c.3416G>A
n.6280+13490G>A
c.6144G>A (p.Trp2048Ter)
c.5634G>A (p.Trp1878Ter)
c.4074G>A (p.Trp1358Ter)
c.4065G>A (p.Trp1355Ter)
n.6266+13490G>A
2g.15218933C>ACA345885018NBASc.4258G>T
c.4426+13489G>T
c.783G>T
c.2128G>T
c.6272G>T (p.Trp2091Leu)
c.512+13489G>T (n.512+13489G>T)
c.3415G>T
n.6280+13489G>T
c.6143G>T (p.Trp2048Leu)
c.5633G>T (p.Trp1878Leu)
c.4073G>T (p.Trp1358Leu)
c.4064G>T (p.Trp1355Leu)
n.6266+13489G>T
2g.15218933C>GCA345885014NBASc.4258G>C
c.4426+13489G>C
c.783G>C
c.2128G>C
c.6272G>C (p.Trp2091Ser)
c.512+13489G>C (n.512+13489G>C)
c.3415G>C
n.6280+13489G>C
c.6143G>C (p.Trp2048Ser)
c.5633G>C (p.Trp1878Ser)
c.4073G>C (p.Trp1358Ser)
c.4064G>C (p.Trp1355Ser)
n.6266+13489G>C
2g.15218933C>TCA345885010NBASc.4258G>A
c.4426+13489G>A
c.783G>A
c.2128G>A
c.6272G>A (p.Trp2091Ter)
c.512+13489G>A (n.512+13489G>A)
c.3415G>A
n.6280+13489G>A
c.6143G>A (p.Trp2048Ter)
c.5633G>A (p.Trp1878Ter)
c.4073G>A (p.Trp1358Ter)
c.4064G>A (p.Trp1355Ter)
n.6266+13489G>A
2g.15218934A=CA2490796258NBASc.4257T=
c.4426+13488T=
c.782T=
c.2127T=
c.6271T= (p.Trp2091=)
c.512+13488T= (n.512+13488T=)
c.3414T=
n.6280+13488T=
c.6142T= (p.Trp2048=)
c.5632T= (p.Trp1878=)
c.4072T= (p.Trp1358=)
c.4063T= (p.Trp1355=)
n.6266+13488T=
2g.15218934A>CCA345885022NBASc.4257T>G
c.4426+13488T>G
c.782T>G
c.2127T>G
c.6271T>G (p.Trp2091Gly)
c.512+13488T>G (n.512+13488T>G)
c.3414T>G
n.6280+13488T>G
c.6142T>G (p.Trp2048Gly)
c.5632T>G (p.Trp1878Gly)
c.4072T>G (p.Trp1358Gly)
c.4063T>G (p.Trp1355Gly)
n.6266+13488T>G
 COSMIC
2g.15218934A>GCA345885024NBASc.4257T>C
c.4426+13488T>C
c.782T>C
c.2127T>C
c.6271T>C (p.Trp2091Arg)
c.512+13488T>C (n.512+13488T>C)
c.3414T>C
n.6280+13488T>C
c.6142T>C (p.Trp2048Arg)
c.5632T>C (p.Trp1878Arg)
c.4072T>C (p.Trp1358Arg)
c.4063T>C (p.Trp1355Arg)
n.6266+13488T>C
 dbSNP gnomAD v3 gnomAD v4
2g.15218934A>TCA345885026NBASc.4257T>A
c.4426+13488T>A
c.782T>A
c.2127T>A
c.6271T>A (p.Trp2091Arg)
c.512+13488T>A (n.512+13488T>A)
c.3414T>A
n.6280+13488T>A
c.6142T>A (p.Trp2048Arg)
c.5632T>A (p.Trp1878Arg)
c.4072T>A (p.Trp1358Arg)
c.4063T>A (p.Trp1355Arg)
n.6266+13488T>A
 gnomAD v4
2g.15218935C>ACA345885028NBASc.4256G>T
c.4426+13487G>T
c.781G>T
c.2126G>T
c.6270G>T (p.Glu2090Asp)
c.512+13487G>T (n.512+13487G>T)
c.3413G>T
n.6280+13487G>T
c.6141G>T (p.Glu2047Asp)
c.5631G>T (p.Glu1877Asp)
c.4071G>T (p.Glu1357Asp)
c.4062G>T (p.Glu1354Asp)
n.6266+13487G>T
 gnomAD v4
2g.15218935C=CA2490796259NBASc.4256G=
c.4426+13487G=
c.781G=
c.2126G=
c.6270G= (p.Glu2090=)
c.512+13487G= (n.512+13487G=)
c.3413G=
n.6280+13487G=
c.6141G= (p.Glu2047=)
c.5631G= (p.Glu1877=)
c.4071G= (p.Glu1357=)
c.4062G= (p.Glu1354=)
n.6266+13487G=
2g.15218935C>GCA345885030NBASc.4256G>C
c.4426+13487G>C
c.781G>C
c.2126G>C
c.6270G>C (p.Glu2090Asp)
c.512+13487G>C (n.512+13487G>C)
c.3413G>C
n.6280+13487G>C
c.6141G>C (p.Glu2047Asp)
c.5631G>C (p.Glu1877Asp)
c.4071G>C (p.Glu1357Asp)
c.4062G>C (p.Glu1354Asp)
n.6266+13487G>C
2g.15218935C>TCA1535061NBASc.4256G>A
c.4426+13487G>A
c.781G>A
c.2126G>A
c.6270G>A (p.Glu2090=)
c.512+13487G>A (n.512+13487G>A)
c.3413G>A
n.6280+13487G>A
c.6141G>A (p.Glu2047=)
c.5631G>A (p.Glu1877=)
c.4071G>A (p.Glu1357=)
c.4062G>A (p.Glu1354=)
n.6266+13487G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218936T>ACA345885049NBASc.4255A>T
c.4426+13486A>T
c.780A>T
c.2125A>T
c.6269A>T (p.Glu2090Val)
c.512+13486A>T (n.512+13486A>T)
c.3412A>T
n.6280+13486A>T
c.6140A>T (p.Glu2047Val)
c.5630A>T (p.Glu1877Val)
c.4070A>T (p.Glu1357Val)
c.4061A>T (p.Glu1354Val)
n.6266+13486A>T
2g.15218936T>CCA345885053NBASc.4255A>G
c.4426+13486A>G
c.780A>G
c.2125A>G
c.6269A>G (p.Glu2090Gly)
c.512+13486A>G (n.512+13486A>G)
c.3412A>G
n.6280+13486A>G
c.6140A>G (p.Glu2047Gly)
c.5630A>G (p.Glu1877Gly)
c.4070A>G (p.Glu1357Gly)
c.4061A>G (p.Glu1354Gly)
n.6266+13486A>G
2g.15218936T>GCA345885052NBASc.4255A>C
c.4426+13486A>C
c.780A>C
c.2125A>C
c.6269A>C (p.Glu2090Ala)
c.512+13486A>C (n.512+13486A>C)
c.3412A>C
n.6280+13486A>C
c.6140A>C (p.Glu2047Ala)
c.5630A>C (p.Glu1877Ala)
c.4070A>C (p.Glu1357Ala)
c.4061A>C (p.Glu1354Ala)
n.6266+13486A>C
2g.15218937C>ACA345885056NBASc.4254G>T
c.4426+13485G>T
c.779G>T
c.2124G>T
c.6268G>T (p.Glu2090Ter)
c.512+13485G>T (n.512+13485G>T)
c.3411G>T
n.6280+13485G>T
c.6139G>T (p.Glu2047Ter)
c.5629G>T (p.Glu1877Ter)
c.4069G>T (p.Glu1357Ter)
c.4060G>T (p.Glu1354Ter)
n.6266+13485G>T
2g.15218937C>GCA345885058NBASc.4254G>C
c.4426+13485G>C
c.779G>C
c.2124G>C
c.6268G>C (p.Glu2090Gln)
c.512+13485G>C (n.512+13485G>C)
c.3411G>C
n.6280+13485G>C
c.6139G>C (p.Glu2047Gln)
c.5629G>C (p.Glu1877Gln)
c.4069G>C (p.Glu1357Gln)
c.4060G>C (p.Glu1354Gln)
n.6266+13485G>C
2g.15218937C>TCA345885062NBASc.4254G>A
c.4426+13485G>A
c.779G>A
c.2124G>A
c.6268G>A (p.Glu2090Lys)
c.512+13485G>A (n.512+13485G>A)
c.3411G>A
n.6280+13485G>A
c.6139G>A (p.Glu2047Lys)
c.5629G>A (p.Glu1877Lys)
c.4069G>A (p.Glu1357Lys)
c.4060G>A (p.Glu1354Lys)
n.6266+13485G>A
2g.15218938C>ACA424866995NBASc.4253G>T
c.4426+13484G>T
c.778G>T
c.2123G>T
c.6267G>T (p.Leu2089=)
c.512+13484G>T (n.512+13484G>T)
c.3410G>T
n.6280+13484G>T
c.6138G>T (p.Leu2046=)
c.5628G>T (p.Leu1876=)
c.4068G>T (p.Leu1356=)
c.4059G>T (p.Leu1353=)
n.6266+13484G>T
 gnomAD v4
2g.15218938C>GCA424866994NBASc.4253G>C
c.4426+13484G>C
c.778G>C
c.2123G>C
c.6267G>C (p.Leu2089=)
c.512+13484G>C (n.512+13484G>C)
c.3410G>C
n.6280+13484G>C
c.6138G>C (p.Leu2046=)
c.5628G>C (p.Leu1876=)
c.4068G>C (p.Leu1356=)
c.4059G>C (p.Leu1353=)
n.6266+13484G>C
2g.15218938C>TCA424866993NBASc.4253G>A
c.4426+13484G>A
c.778G>A
c.2123G>A
c.6267G>A (p.Leu2089=)
c.512+13484G>A (n.512+13484G>A)
c.3410G>A
n.6280+13484G>A
c.6138G>A (p.Leu2046=)
c.5628G>A (p.Leu1876=)
c.4068G>A (p.Leu1356=)
c.4059G>A (p.Leu1353=)
n.6266+13484G>A
2g.15218939A>CCA345885064NBASc.4252T>G
c.4426+13483T>G
c.777T>G
c.2122T>G
c.6266T>G (p.Leu2089Arg)
c.512+13483T>G (n.512+13483T>G)
c.3409T>G
n.6280+13483T>G
c.6137T>G (p.Leu2046Arg)
c.5627T>G (p.Leu1876Arg)
c.4067T>G (p.Leu1356Arg)
c.4058T>G (p.Leu1353Arg)
n.6266+13483T>G
2g.15218939A>GCA345885065NBASc.4252T>C
c.4426+13483T>C
c.777T>C
c.2122T>C
c.6266T>C (p.Leu2089Pro)
c.512+13483T>C (n.512+13483T>C)
c.3409T>C
n.6280+13483T>C
c.6137T>C (p.Leu2046Pro)
c.5627T>C (p.Leu1876Pro)
c.4067T>C (p.Leu1356Pro)
c.4058T>C (p.Leu1353Pro)
n.6266+13483T>C
2g.15218939A>TCA345885066NBASc.4252T>A
c.4426+13483T>A
c.777T>A
c.2122T>A
c.6266T>A (p.Leu2089Gln)
c.512+13483T>A (n.512+13483T>A)
c.3409T>A
n.6280+13483T>A
c.6137T>A (p.Leu2046Gln)
c.5627T>A (p.Leu1876Gln)
c.4067T>A (p.Leu1356Gln)
c.4058T>A (p.Leu1353Gln)
n.6266+13483T>A
2g.15218940G>ACA1535062NBASc.4251C>T
c.4426+13482C>T
c.776C>T
c.2121C>T
c.6265C>T (p.Leu2089=)
c.512+13482C>T (n.512+13482C>T)
c.3408C>T
n.6280+13482C>T
c.6136C>T (p.Leu2046=)
c.5626C>T (p.Leu1876=)
c.4066C>T (p.Leu1356=)
c.4057C>T (p.Leu1353=)
n.6266+13482C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218940G>CCA345885068NBASc.4251C>G
c.4426+13482C>G
c.776C>G
c.2121C>G
c.6265C>G (p.Leu2089Val)
c.512+13482C>G (n.512+13482C>G)
c.3408C>G
n.6280+13482C>G
c.6136C>G (p.Leu2046Val)
c.5626C>G (p.Leu1876Val)
c.4066C>G (p.Leu1356Val)
c.4057C>G (p.Leu1353Val)
n.6266+13482C>G
2g.15218940G=CA2490796260NBASc.4251C=
c.4426+13482C=
c.776C=
c.2121C=
c.6265C= (p.Leu2089=)
c.512+13482C= (n.512+13482C=)
c.3408C=
n.6280+13482C=
c.6136C= (p.Leu2046=)
c.5626C= (p.Leu1876=)
c.4066C= (p.Leu1356=)
c.4057C= (p.Leu1353=)
n.6266+13482C=
2g.15218940G>TCA345885072NBASc.4251C>A
c.4426+13482C>A
c.776C>A
c.2121C>A
c.6265C>A (p.Leu2089Met)
c.512+13482C>A (n.512+13482C>A)
c.3408C>A
n.6280+13482C>A
c.6136C>A (p.Leu2046Met)
c.5626C>A (p.Leu1876Met)
c.4066C>A (p.Leu1356Met)
c.4057C>A (p.Leu1353Met)
n.6266+13482C>A
2g.15218941C>ACA424866996NBASc.4250G>T
c.4426+13481G>T
c.775G>T
c.2120G>T
c.6264G>T (p.Leu2088=)
c.512+13481G>T (n.512+13481G>T)
c.3407G>T
n.6280+13481G>T
c.6135G>T (p.Leu2045=)
c.5625G>T (p.Leu1875=)
c.4065G>T (p.Leu1355=)
c.4056G>T (p.Leu1352=)
n.6266+13481G>T
 dbSNP gnomAD v3 gnomAD v4
2g.15218941C=CA2490796261NBASc.4250G=
c.4426+13481G=
c.775G=
c.2120G=
c.6264G= (p.Leu2088=)
c.512+13481G= (n.512+13481G=)
c.3407G=
n.6280+13481G=
c.6135G= (p.Leu2045=)
c.5625G= (p.Leu1875=)
c.4065G= (p.Leu1355=)
c.4056G= (p.Leu1352=)
n.6266+13481G=
2g.15218941C>GCA424866997NBASc.4250G>C
c.4426+13481G>C
c.775G>C
c.2120G>C
c.6264G>C (p.Leu2088=)
c.512+13481G>C (n.512+13481G>C)
c.3407G>C
n.6280+13481G>C
c.6135G>C (p.Leu2045=)
c.5625G>C (p.Leu1875=)
c.4065G>C (p.Leu1355=)
c.4056G>C (p.Leu1352=)
n.6266+13481G>C
2g.15218941C>TCA424866998NBASc.4250G>A
c.4426+13481G>A
c.775G>A
c.2120G>A
c.6264G>A (p.Leu2088=)
c.512+13481G>A (n.512+13481G>A)
c.3407G>A
n.6280+13481G>A
c.6135G>A (p.Leu2045=)
c.5625G>A (p.Leu1875=)
c.4065G>A (p.Leu1355=)
c.4056G>A (p.Leu1352=)
n.6266+13481G>A
2g.15218942A>CCA345885074NBASc.4249T>G
c.4426+13480T>G
c.774T>G
c.2119T>G
c.6263T>G (p.Leu2088Arg)
c.512+13480T>G (n.512+13480T>G)
c.3406T>G
n.6280+13480T>G
c.6134T>G (p.Leu2045Arg)
c.5624T>G (p.Leu1875Arg)
c.4064T>G (p.Leu1355Arg)
c.4055T>G (p.Leu1352Arg)
n.6266+13480T>G
 ClinVar
2g.15218942A>GCA345885075NBASc.4249T>C
c.4426+13480T>C
c.774T>C
c.2119T>C
c.6263T>C (p.Leu2088Pro)
c.512+13480T>C (n.512+13480T>C)
c.3406T>C
n.6280+13480T>C
c.6134T>C (p.Leu2045Pro)
c.5624T>C (p.Leu1875Pro)
c.4064T>C (p.Leu1355Pro)
c.4055T>C (p.Leu1352Pro)
n.6266+13480T>C
2g.15218942A>TCA345885078NBASc.4249T>A
c.4426+13480T>A
c.774T>A
c.2119T>A
c.6263T>A (p.Leu2088Gln)
c.512+13480T>A (n.512+13480T>A)
c.3406T>A
n.6280+13480T>A
c.6134T>A (p.Leu2045Gln)
c.5624T>A (p.Leu1875Gln)
c.4064T>A (p.Leu1355Gln)
c.4055T>A (p.Leu1352Gln)
n.6266+13480T>A
2g.15218943G>ACA424866999NBASc.4248C>T
c.4426+13479C>T
c.773C>T
c.2118C>T
c.6262C>T (p.Leu2088=)
c.512+13479C>T (n.512+13479C>T)
c.3405C>T
n.6280+13479C>T
c.6133C>T (p.Leu2045=)
c.5623C>T (p.Leu1875=)
c.4063C>T (p.Leu1355=)
c.4054C>T (p.Leu1352=)
n.6266+13479C>T
 COSMIC
2g.15218943G>CCA345885080NBASc.4248C>G
c.4426+13479C>G
c.773C>G
c.2118C>G
c.6262C>G (p.Leu2088Val)
c.512+13479C>G (n.512+13479C>G)
c.3405C>G
n.6280+13479C>G
c.6133C>G (p.Leu2045Val)
c.5623C>G (p.Leu1875Val)
c.4063C>G (p.Leu1355Val)
c.4054C>G (p.Leu1352Val)
n.6266+13479C>G
 gnomAD v4
2g.15218943G>TCA345885083NBASc.4248C>A
c.4426+13479C>A
c.773C>A
c.2118C>A
c.6262C>A (p.Leu2088Met)
c.512+13479C>A (n.512+13479C>A)
c.3405C>A
n.6280+13479C>A
c.6133C>A (p.Leu2045Met)
c.5623C>A (p.Leu1875Met)
c.4063C>A (p.Leu1355Met)
c.4054C>A (p.Leu1352Met)
n.6266+13479C>A
2g.15218944G>ACA424867000NBASc.4247C>T
c.4426+13478C>T
c.772C>T
c.2117C>T
c.6261C>T (p.Asp2087=)
c.512+13478C>T (n.512+13478C>T)
c.3404C>T
n.6280+13478C>T
c.6132C>T (p.Asp2044=)
c.5622C>T (p.Asp1874=)
c.4062C>T (p.Asp1354=)
c.4053C>T (p.Asp1351=)
n.6266+13478C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218944G>CCA345885086NBASc.4247C>G
c.4426+13478C>G
c.772C>G
c.2117C>G
c.6261C>G (p.Asp2087Glu)
c.512+13478C>G (n.512+13478C>G)
c.3404C>G
n.6280+13478C>G
c.6132C>G (p.Asp2044Glu)
c.5622C>G (p.Asp1874Glu)
c.4062C>G (p.Asp1354Glu)
c.4053C>G (p.Asp1351Glu)
n.6266+13478C>G
2g.15218944G=CA2490796262NBASc.4247C=
c.4426+13478C=
c.772C=
c.2117C=
c.6261C= (p.Asp2087=)
c.512+13478C= (n.512+13478C=)
c.3404C=
n.6280+13478C=
c.6132C= (p.Asp2044=)
c.5622C= (p.Asp1874=)
c.4062C= (p.Asp1354=)
c.4053C= (p.Asp1351=)
n.6266+13478C=
2g.15218944G>TCA345885090NBASc.4247C>A
c.4426+13478C>A
c.772C>A
c.2117C>A
c.6261C>A (p.Asp2087Glu)
c.512+13478C>A (n.512+13478C>A)
c.3404C>A
n.6280+13478C>A
c.6132C>A (p.Asp2044Glu)
c.5622C>A (p.Asp1874Glu)
c.4062C>A (p.Asp1354Glu)
c.4053C>A (p.Asp1351Glu)
n.6266+13478C>A
2g.15218945T>ACA345885092NBASc.4246A>T
c.4426+13477A>T
c.771A>T
c.2116A>T
c.6260A>T (p.Asp2087Val)
c.512+13477A>T (n.512+13477A>T)
c.3403A>T
n.6280+13477A>T
c.6131A>T (p.Asp2044Val)
c.5621A>T (p.Asp1874Val)
c.4061A>T (p.Asp1354Val)
c.4052A>T (p.Asp1351Val)
n.6266+13477A>T
2g.15218945T>CCA345885097NBASc.4246A>G
c.4426+13477A>G
c.771A>G
c.2116A>G
c.6260A>G (p.Asp2087Gly)
c.512+13477A>G (n.512+13477A>G)
c.3403A>G
n.6280+13477A>G
c.6131A>G (p.Asp2044Gly)
c.5621A>G (p.Asp1874Gly)
c.4061A>G (p.Asp1354Gly)
c.4052A>G (p.Asp1351Gly)
n.6266+13477A>G
2g.15218945T>GCA345885098NBASc.4246A>C
c.4426+13477A>C
c.771A>C
c.2116A>C
c.6260A>C (p.Asp2087Ala)
c.512+13477A>C (n.512+13477A>C)
c.3403A>C
n.6280+13477A>C
c.6131A>C (p.Asp2044Ala)
c.5621A>C (p.Asp1874Ala)
c.4061A>C (p.Asp1354Ala)
c.4052A>C (p.Asp1351Ala)
n.6266+13477A>C
2g.15218946C>ACA345885100NBASc.4245G>T
c.4426+13476G>T
c.770G>T
c.2115G>T
c.6259G>T (p.Asp2087Tyr)
c.512+13476G>T (n.512+13476G>T)
c.3402G>T
n.6280+13476G>T
c.6130G>T (p.Asp2044Tyr)
c.5620G>T (p.Asp1874Tyr)
c.4060G>T (p.Asp1354Tyr)
c.4051G>T (p.Asp1351Tyr)
n.6266+13476G>T
2g.15218946C>GCA345885102NBASc.4245G>C
c.4426+13476G>C
c.770G>C
c.2115G>C
c.6259G>C (p.Asp2087His)
c.512+13476G>C (n.512+13476G>C)
c.3402G>C
n.6280+13476G>C
c.6130G>C (p.Asp2044His)
c.5620G>C (p.Asp1874His)
c.4060G>C (p.Asp1354His)
c.4051G>C (p.Asp1351His)
n.6266+13476G>C
2g.15218946C>TCA345885107NBASc.4245G>A
c.4426+13476G>A
c.770G>A
c.2115G>A
c.6259G>A (p.Asp2087Asn)
c.512+13476G>A (n.512+13476G>A)
c.3402G>A
n.6280+13476G>A
c.6130G>A (p.Asp2044Asn)
c.5620G>A (p.Asp1874Asn)
c.4060G>A (p.Asp1354Asn)
c.4051G>A (p.Asp1351Asn)
n.6266+13476G>A
2g.15218947C>ACA345885114NBASc.4244G>T
c.4426+13475G>T
c.769G>T
c.2114G>T
c.6258G>T (p.Glu2086Asp)
c.512+13475G>T (n.512+13475G>T)
c.3401G>T
n.6280+13475G>T
c.6129G>T (p.Glu2043Asp)
c.5619G>T (p.Glu1873Asp)
c.4059G>T (p.Glu1353Asp)
c.4050G>T (p.Glu1350Asp)
n.6266+13475G>T
2g.15218947C=CA2490796263NBASc.4244G=
c.4426+13475G=
c.769G=
c.2114G=
c.6258G= (p.Glu2086=)
c.512+13475G= (n.512+13475G=)
c.3401G=
n.6280+13475G=
c.6129G= (p.Glu2043=)
c.5619G= (p.Glu1873=)
c.4059G= (p.Glu1353=)
c.4050G= (p.Glu1350=)
n.6266+13475G=
2g.15218947C>GCA345885110NBASc.4244G>C
c.4426+13475G>C
c.769G>C
c.2114G>C
c.6258G>C (p.Glu2086Asp)
c.512+13475G>C (n.512+13475G>C)
c.3401G>C
n.6280+13475G>C
c.6129G>C (p.Glu2043Asp)
c.5619G>C (p.Glu1873Asp)
c.4059G>C (p.Glu1353Asp)
c.4050G>C (p.Glu1350Asp)
n.6266+13475G>C
2g.15218947C>TCA424867001NBASc.4244G>A
c.4426+13475G>A
c.769G>A
c.2114G>A
c.6258G>A (p.Glu2086=)
c.512+13475G>A (n.512+13475G>A)
c.3401G>A
n.6280+13475G>A
c.6129G>A (p.Glu2043=)
c.5619G>A (p.Glu1873=)
c.4059G>A (p.Glu1353=)
c.4050G>A (p.Glu1350=)
n.6266+13475G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218948T>ACA345885117NBASc.4243A>T
c.4426+13474A>T
c.768A>T
c.2113A>T
c.6257A>T (p.Glu2086Val)
c.512+13474A>T (n.512+13474A>T)
c.3400A>T
n.6280+13474A>T
c.6128A>T (p.Glu2043Val)
c.5618A>T (p.Glu1873Val)
c.4058A>T (p.Glu1353Val)
c.4049A>T (p.Glu1350Val)
n.6266+13474A>T
 gnomAD v4
2g.15218948T>CCA345885121NBASc.4243A>G
c.4426+13474A>G
c.768A>G
c.2113A>G
c.6257A>G (p.Glu2086Gly)
c.512+13474A>G (n.512+13474A>G)
c.3400A>G
n.6280+13474A>G
c.6128A>G (p.Glu2043Gly)
c.5618A>G (p.Glu1873Gly)
c.4058A>G (p.Glu1353Gly)
c.4049A>G (p.Glu1350Gly)
n.6266+13474A>G
2g.15218948T>GCA345885123NBASc.4243A>C
c.4426+13474A>C
c.768A>C
c.2113A>C
c.6257A>C (p.Glu2086Ala)
c.512+13474A>C (n.512+13474A>C)
c.3400A>C
n.6280+13474A>C
c.6128A>C (p.Glu2043Ala)
c.5618A>C (p.Glu1873Ala)
c.4058A>C (p.Glu1353Ala)
c.4049A>C (p.Glu1350Ala)
n.6266+13474A>C
2g.15218949C>ACA345885125NBASc.4242G>T
c.4426+13473G>T
c.767G>T
c.2112G>T
c.6256G>T (p.Glu2086Ter)
c.512+13473G>T (n.512+13473G>T)
c.3399G>T
n.6280+13473G>T
c.6127G>T (p.Glu2043Ter)
c.5617G>T (p.Glu1873Ter)
c.4057G>T (p.Glu1353Ter)
c.4048G>T (p.Glu1350Ter)
n.6266+13473G>T
2g.15218949C=CA2490796264NBASc.4242G=
c.4426+13473G=
c.767G=
c.2112G=
c.6256G= (p.Glu2086=)
c.512+13473G= (n.512+13473G=)
c.3399G=
n.6280+13473G=
c.6127G= (p.Glu2043=)
c.5617G= (p.Glu1873=)
c.4057G= (p.Glu1353=)
c.4048G= (p.Glu1350=)
n.6266+13473G=
2g.15218949C>GCA345885128NBASc.4242G>C
c.4426+13473G>C
c.767G>C
c.2112G>C
c.6256G>C (p.Glu2086Gln)
c.512+13473G>C (n.512+13473G>C)
c.3399G>C
n.6280+13473G>C
c.6127G>C (p.Glu2043Gln)
c.5617G>C (p.Glu1873Gln)
c.4057G>C (p.Glu1353Gln)
c.4048G>C (p.Glu1350Gln)
n.6266+13473G>C
2g.15218949C>TCA345885129NBASc.4242G>A
c.4426+13473G>A
c.767G>A
c.2112G>A
c.6256G>A (p.Glu2086Lys)
c.512+13473G>A (n.512+13473G>A)
c.3399G>A
n.6280+13473G>A
c.6127G>A (p.Glu2043Lys)
c.5617G>A (p.Glu1873Lys)
c.4057G>A (p.Glu1353Lys)
c.4048G>A (p.Glu1350Lys)
n.6266+13473G>A
 dbSNP gnomAD v4
2g.15218950A=CA2490796265NBASc.4241T=
c.4426+13472T=
c.766T=
c.2111T=
c.6255T= (p.Pro2085=)
c.512+13472T= (n.512+13472T=)
c.3398T=
n.6280+13472T=
c.6126T= (p.Pro2042=)
c.5616T= (p.Pro1872=)
c.4056T= (p.Pro1352=)
c.4047T= (p.Pro1349=)
n.6266+13472T=
2g.15218950A>CCA424867002NBASc.4241T>G
c.4426+13472T>G
c.766T>G
c.2111T>G
c.6255T>G (p.Pro2085=)
c.512+13472T>G (n.512+13472T>G)
c.3398T>G
n.6280+13472T>G
c.6126T>G (p.Pro2042=)
c.5616T>G (p.Pro1872=)
c.4056T>G (p.Pro1352=)
c.4047T>G (p.Pro1349=)
n.6266+13472T>G
2g.15218950A>GCA424867003NBASc.4241T>C
c.4426+13472T>C
c.766T>C
c.2111T>C
c.6255T>C (p.Pro2085=)
c.512+13472T>C (n.512+13472T>C)
c.3398T>C
n.6280+13472T>C
c.6126T>C (p.Pro2042=)
c.5616T>C (p.Pro1872=)
c.4056T>C (p.Pro1352=)
c.4047T>C (p.Pro1349=)
n.6266+13472T>C
 dbSNP gnomAD v2
2g.15218950A>TCA424867004NBASc.4241T>A
c.4426+13472T>A
c.766T>A
c.2111T>A
c.6255T>A (p.Pro2085=)
c.512+13472T>A (n.512+13472T>A)
c.3398T>A
n.6280+13472T>A
c.6126T>A (p.Pro2042=)
c.5616T>A (p.Pro1872=)
c.4056T>A (p.Pro1352=)
c.4047T>A (p.Pro1349=)
n.6266+13472T>A
2g.15218951G>ACA345885134NBASc.4240C>T
c.4426+13471C>T
c.765C>T
c.2110C>T
c.6254C>T (p.Pro2085Leu)
c.512+13471C>T (n.512+13471C>T)
c.3397C>T
n.6280+13471C>T
c.6125C>T (p.Pro2042Leu)
c.5615C>T (p.Pro1872Leu)
c.4055C>T (p.Pro1352Leu)
c.4046C>T (p.Pro1349Leu)
n.6266+13471C>T
 dbSNP gnomAD v3 gnomAD v4
2g.15218951G>CCA345885131NBASc.4240C>G
c.4426+13471C>G
c.765C>G
c.2110C>G
c.6254C>G (p.Pro2085Arg)
c.512+13471C>G (n.512+13471C>G)
c.3397C>G
n.6280+13471C>G
c.6125C>G (p.Pro2042Arg)
c.5615C>G (p.Pro1872Arg)
c.4055C>G (p.Pro1352Arg)
c.4046C>G (p.Pro1349Arg)
n.6266+13471C>G
2g.15218951G=CA2490796266NBASc.4240C=
c.4426+13471C=
c.765C=
c.2110C=
c.6254C= (p.Pro2085=)
c.512+13471C= (n.512+13471C=)
c.3397C=
n.6280+13471C=
c.6125C= (p.Pro2042=)
c.5615C= (p.Pro1872=)
c.4055C= (p.Pro1352=)
c.4046C= (p.Pro1349=)
n.6266+13471C=
2g.15218951G>TCA345885132NBASc.4240C>A
c.4426+13471C>A
c.765C>A
c.2110C>A
c.6254C>A (p.Pro2085His)
c.512+13471C>A (n.512+13471C>A)
c.3397C>A
n.6280+13471C>A
c.6125C>A (p.Pro2042His)
c.5615C>A (p.Pro1872His)
c.4055C>A (p.Pro1352His)
c.4046C>A (p.Pro1349His)
n.6266+13471C>A
2g.15218952G>ACA345885135NBASc.4239C>T
c.4426+13470C>T
c.764C>T
c.2109C>T
c.6253C>T (p.Pro2085Ser)
c.512+13470C>T (n.512+13470C>T)
c.3396C>T
n.6280+13470C>T
c.6124C>T (p.Pro2042Ser)
c.5614C>T (p.Pro1872Ser)
c.4054C>T (p.Pro1352Ser)
c.4045C>T (p.Pro1349Ser)
n.6266+13470C>T
 ClinVar dbSNP
2g.15218952G>CCA345885138NBASc.4239C>G
c.4426+13470C>G
c.764C>G
c.2109C>G
c.6253C>G (p.Pro2085Ala)
c.512+13470C>G (n.512+13470C>G)
c.3396C>G
n.6280+13470C>G
c.6124C>G (p.Pro2042Ala)
c.5614C>G (p.Pro1872Ala)
c.4054C>G (p.Pro1352Ala)
c.4045C>G (p.Pro1349Ala)
n.6266+13470C>G
2g.15218952G>TCA345885139NBASc.4239C>A
c.4426+13470C>A
c.764C>A
c.2109C>A
c.6253C>A (p.Pro2085Thr)
c.512+13470C>A (n.512+13470C>A)
c.3396C>A
n.6280+13470C>A
c.6124C>A (p.Pro2042Thr)
c.5614C>A (p.Pro1872Thr)
c.4054C>A (p.Pro1352Thr)
c.4045C>A (p.Pro1349Thr)
n.6266+13470C>A
2g.15218953T>ACA424867005NBASc.4238A>T
c.4426+13469A>T
c.763A>T
c.2108A>T
c.6252A>T (p.Ser2084=)
c.512+13469A>T (n.512+13469A>T)
c.3395A>T
n.6280+13469A>T
c.6123A>T (p.Ser2041=)
c.5613A>T (p.Ser1871=)
c.4053A>T (p.Ser1351=)
c.4044A>T (p.Ser1348=)
n.6266+13469A>T
2g.15218953T>CCA424867006NBASc.4238A>G
c.4426+13469A>G
c.763A>G
c.2108A>G
c.6252A>G (p.Ser2084=)
c.512+13469A>G (n.512+13469A>G)
c.3395A>G
n.6280+13469A>G
c.6123A>G (p.Ser2041=)
c.5613A>G (p.Ser1871=)
c.4053A>G (p.Ser1351=)
c.4044A>G (p.Ser1348=)
n.6266+13469A>G
2g.15218953T>GCA424867007NBASc.4238A>C
c.4426+13469A>C
c.763A>C
c.2108A>C
c.6252A>C (p.Ser2084=)
c.512+13469A>C (n.512+13469A>C)
c.3395A>C
n.6280+13469A>C
c.6123A>C (p.Ser2041=)
c.5613A>C (p.Ser1871=)
c.4053A>C (p.Ser1351=)
c.4044A>C (p.Ser1348=)
n.6266+13469A>C
 dbSNP gnomAD v2 gnomAD v4
2g.15218953T=CA2490796267NBASc.4238A=
c.4426+13469A=
c.763A=
c.2108A=
c.6252A= (p.Ser2084=)
c.512+13469A= (n.512+13469A=)
c.3395A=
n.6280+13469A=
c.6123A= (p.Ser2041=)
c.5613A= (p.Ser1871=)
c.4053A= (p.Ser1351=)
c.4044A= (p.Ser1348=)
n.6266+13469A=
2g.15218954G>ACA345885141NBASc.4237C>T
c.4426+13468C>T
c.762C>T
c.2107C>T
c.6251C>T (p.Ser2084Leu)
c.512+13468C>T (n.512+13468C>T)
c.3394C>T
n.6280+13468C>T
c.6122C>T (p.Ser2041Leu)
c.5612C>T (p.Ser1871Leu)
c.4052C>T (p.Ser1351Leu)
c.4043C>T (p.Ser1348Leu)
n.6266+13468C>T
 gnomAD v4 COSMIC
2g.15218954G>CCA345885142NBASc.4237C>G
c.4426+13468C>G
c.762C>G
c.2107C>G
c.6251C>G (p.Ser2084Ter)
c.512+13468C>G (n.512+13468C>G)
c.3394C>G
n.6280+13468C>G
c.6122C>G (p.Ser2041Ter)
c.5612C>G (p.Ser1871Ter)
c.4052C>G (p.Ser1351Ter)
c.4043C>G (p.Ser1348Ter)
n.6266+13468C>G
2g.15218954G>TCA345885143NBASc.4237C>A
c.4426+13468C>A
c.762C>A
c.2107C>A
c.6251C>A (p.Ser2084Ter)
c.512+13468C>A (n.512+13468C>A)
c.3394C>A
n.6280+13468C>A
c.6122C>A (p.Ser2041Ter)
c.5612C>A (p.Ser1871Ter)
c.4052C>A (p.Ser1351Ter)
c.4043C>A (p.Ser1348Ter)
n.6266+13468C>A
2g.15218955A>CCA345885144NBASc.4236T>G
c.4426+13467T>G
c.761T>G
c.2106T>G
c.6250T>G (p.Ser2084Ala)
c.512+13467T>G (n.512+13467T>G)
c.3393T>G
n.6280+13467T>G
c.6121T>G (p.Ser2041Ala)
c.5611T>G (p.Ser1871Ala)
c.4051T>G (p.Ser1351Ala)
c.4042T>G (p.Ser1348Ala)
n.6266+13467T>G
2g.15218955A>GCA345885145NBASc.4236T>C
c.4426+13467T>C
c.761T>C
c.2106T>C
c.6250T>C (p.Ser2084Pro)
c.512+13467T>C (n.512+13467T>C)
c.3393T>C
n.6280+13467T>C
c.6121T>C (p.Ser2041Pro)
c.5611T>C (p.Ser1871Pro)
c.4051T>C (p.Ser1351Pro)
c.4042T>C (p.Ser1348Pro)
n.6266+13467T>C
2g.15218955A>TCA345885147NBASc.4236T>A
c.4426+13467T>A
c.761T>A
c.2106T>A
c.6250T>A (p.Ser2084Thr)
c.512+13467T>A (n.512+13467T>A)
c.3393T>A
n.6280+13467T>A
c.6121T>A (p.Ser2041Thr)
c.5611T>A (p.Ser1871Thr)
c.4051T>A (p.Ser1351Thr)
c.4042T>A (p.Ser1348Thr)
n.6266+13467T>A
2g.15218956A>CCA424867008NBASc.4235T>G
c.4426+13466T>G
c.760T>G
c.2105T>G
c.6249T>G (p.Val2083=)
c.512+13466T>G (n.512+13466T>G)
c.3392T>G
n.6280+13466T>G
c.6120T>G (p.Val2040=)
c.5610T>G (p.Val1870=)
c.4050T>G (p.Val1350=)
c.4041T>G (p.Val1347=)
n.6266+13466T>G
2g.15218956A>GCA424867009NBASc.4235T>C
c.4426+13466T>C
c.760T>C
c.2105T>C
c.6249T>C (p.Val2083=)
c.512+13466T>C (n.512+13466T>C)
c.3392T>C
n.6280+13466T>C
c.6120T>C (p.Val2040=)
c.5610T>C (p.Val1870=)
c.4050T>C (p.Val1350=)
c.4041T>C (p.Val1347=)
n.6266+13466T>C
2g.15218956A>TCA424867010NBASc.4235T>A
c.4426+13466T>A
c.760T>A
c.2105T>A
c.6249T>A (p.Val2083=)
c.512+13466T>A (n.512+13466T>A)
c.3392T>A
n.6280+13466T>A
c.6120T>A (p.Val2040=)
c.5610T>A (p.Val1870=)
c.4050T>A (p.Val1350=)
c.4041T>A (p.Val1347=)
n.6266+13466T>A
2g.15218957A>CCA345885151NBASc.4234T>G
c.4426+13465T>G
c.759T>G
c.2104T>G
c.6248T>G (p.Val2083Gly)
c.512+13465T>G (n.512+13465T>G)
c.3391T>G
n.6280+13465T>G
c.6119T>G (p.Val2040Gly)
c.5609T>G (p.Val1870Gly)
c.4049T>G (p.Val1350Gly)
c.4040T>G (p.Val1347Gly)
n.6266+13465T>G
2g.15218957A>GCA345885154NBASc.4234T>C
c.4426+13465T>C
c.759T>C
c.2104T>C
c.6248T>C (p.Val2083Ala)
c.512+13465T>C (n.512+13465T>C)
c.3391T>C
n.6280+13465T>C
c.6119T>C (p.Val2040Ala)
c.5609T>C (p.Val1870Ala)
c.4049T>C (p.Val1350Ala)
c.4040T>C (p.Val1347Ala)
n.6266+13465T>C
2g.15218957A>TCA345885156NBASc.4234T>A
c.4426+13465T>A
c.759T>A
c.2104T>A
c.6248T>A (p.Val2083Asp)
c.512+13465T>A (n.512+13465T>A)
c.3391T>A
n.6280+13465T>A
c.6119T>A (p.Val2040Asp)
c.5609T>A (p.Val1870Asp)
c.4049T>A (p.Val1350Asp)
c.4040T>A (p.Val1347Asp)
n.6266+13465T>A
2g.15218958C>ACA345885158NBASc.4233G>T
c.4426+13464G>T
c.758G>T
c.2103G>T
c.6247G>T (p.Val2083Phe)
c.512+13464G>T (n.512+13464G>T)
c.3390G>T
n.6280+13464G>T
c.6118G>T (p.Val2040Phe)
c.5608G>T (p.Val1870Phe)
c.4048G>T (p.Val1350Phe)
c.4039G>T (p.Val1347Phe)
n.6266+13464G>T
2g.15218958C>GCA345885160NBASc.4233G>C
c.4426+13464G>C
c.758G>C
c.2103G>C
c.6247G>C (p.Val2083Leu)
c.512+13464G>C (n.512+13464G>C)
c.3390G>C
n.6280+13464G>C
c.6118G>C (p.Val2040Leu)
c.5608G>C (p.Val1870Leu)
c.4048G>C (p.Val1350Leu)
c.4039G>C (p.Val1347Leu)
n.6266+13464G>C
2g.15218958C>TCA345885159NBASc.4233G>A
c.4426+13464G>A
c.758G>A
c.2103G>A
c.6247G>A (p.Val2083Ile)
c.512+13464G>A (n.512+13464G>A)
c.3390G>A
n.6280+13464G>A
c.6118G>A (p.Val2040Ile)
c.5608G>A (p.Val1870Ile)
c.4048G>A (p.Val1350Ile)
c.4039G>A (p.Val1347Ile)
n.6266+13464G>A
2g.15218959delCA2576680244NBASc.4233del
c.4426+13464del
c.758del
c.2103del
c.6247del (p.Val2083PhefsTer?)
c.512+13464del (n.512+13464del)
c.3390del
n.6280+13464del
c.6118del (p.Val2040PhefsTer?)
c.5608del (p.Val1870PhefsTer?)
c.4048del (p.Val1350PhefsTer?)
c.4039del (p.Val1347PhefsTer?)
n.6266+13464del
2g.15218959C>ACA424867011NBASc.4232G>T
c.4426+13463G>T
c.757G>T
c.2102G>T
c.6246G>T (p.Leu2082=)
c.512+13463G>T (n.512+13463G>T)
c.3389G>T
n.6280+13463G>T
c.6117G>T (p.Leu2039=)
c.5607G>T (p.Leu1869=)
c.4047G>T (p.Leu1349=)
c.4038G>T (p.Leu1346=)
n.6266+13463G>T
2g.15218959C>GCA424867013NBASc.4232G>C
c.4426+13463G>C
c.757G>C
c.2102G>C
c.6246G>C (p.Leu2082=)
c.512+13463G>C (n.512+13463G>C)
c.3389G>C
n.6280+13463G>C
c.6117G>C (p.Leu2039=)
c.5607G>C (p.Leu1869=)
c.4047G>C (p.Leu1349=)
c.4038G>C (p.Leu1346=)
n.6266+13463G>C
2g.15218959C>TCA424867012NBASc.4232G>A
c.4426+13463G>A
c.757G>A
c.2102G>A
c.6246G>A (p.Leu2082=)
c.512+13463G>A (n.512+13463G>A)
c.3389G>A
n.6280+13463G>A
c.6117G>A (p.Leu2039=)
c.5607G>A (p.Leu1869=)
c.4047G>A (p.Leu1349=)
c.4038G>A (p.Leu1346=)
n.6266+13463G>A
2g.15218960A>CCA345885161NBASc.4231T>G
c.4426+13462T>G
c.756T>G
c.2101T>G
c.6245T>G (p.Leu2082Arg)
c.512+13462T>G (n.512+13462T>G)
c.3388T>G
n.6280+13462T>G
c.6116T>G (p.Leu2039Arg)
c.5606T>G (p.Leu1869Arg)
c.4046T>G (p.Leu1349Arg)
c.4037T>G (p.Leu1346Arg)
n.6266+13462T>G
2g.15218960A>GCA345885162NBASc.4231T>C
c.4426+13462T>C
c.756T>C
c.2101T>C
c.6245T>C (p.Leu2082Pro)
c.512+13462T>C (n.512+13462T>C)
c.3388T>C
n.6280+13462T>C
c.6116T>C (p.Leu2039Pro)
c.5606T>C (p.Leu1869Pro)
c.4046T>C (p.Leu1349Pro)
c.4037T>C (p.Leu1346Pro)
n.6266+13462T>C
2g.15218960A>TCA345885165NBASc.4231T>A
c.4426+13462T>A
c.756T>A
c.2101T>A
c.6245T>A (p.Leu2082Gln)
c.512+13462T>A (n.512+13462T>A)
c.3388T>A
n.6280+13462T>A
c.6116T>A (p.Leu2039Gln)
c.5606T>A (p.Leu1869Gln)
c.4046T>A (p.Leu1349Gln)
c.4037T>A (p.Leu1346Gln)
n.6266+13462T>A
2g.15218961G>ACA424867014NBASc.4230C>T
c.4426+13461C>T
c.755C>T
c.2100C>T
c.6244C>T (p.Leu2082=)
c.512+13461C>T (n.512+13461C>T)
c.3387C>T
n.6280+13461C>T
c.6115C>T (p.Leu2039=)
c.5605C>T (p.Leu1869=)
c.4045C>T (p.Leu1349=)
c.4036C>T (p.Leu1346=)
n.6266+13461C>T
2g.15218961G>CCA345885167NBASc.4230C>G
c.4426+13461C>G
c.755C>G
c.2100C>G
c.6244C>G (p.Leu2082Val)
c.512+13461C>G (n.512+13461C>G)
c.3387C>G
n.6280+13461C>G
c.6115C>G (p.Leu2039Val)
c.5605C>G (p.Leu1869Val)
c.4045C>G (p.Leu1349Val)
c.4036C>G (p.Leu1346Val)
n.6266+13461C>G
 COSMIC
2g.15218961G>TCA345885168NBASc.4230C>A
c.4426+13461C>A
c.755C>A
c.2100C>A
c.6244C>A (p.Leu2082Met)
c.512+13461C>A (n.512+13461C>A)
c.3387C>A
n.6280+13461C>A
c.6115C>A (p.Leu2039Met)
c.5605C>A (p.Leu1869Met)
c.4045C>A (p.Leu1349Met)
c.4036C>A (p.Leu1346Met)
n.6266+13461C>A
2g.15218962C>ACA345885170NBASc.4229G>T
c.4426+13460G>T
c.754G>T
c.2099G>T
c.6243G>T (p.Glu2081Asp)
c.512+13460G>T (n.512+13460G>T)
c.3386G>T
n.6280+13460G>T
c.6114G>T (p.Glu2038Asp)
c.5604G>T (p.Glu1868Asp)
c.4044G>T (p.Glu1348Asp)
c.4035G>T (p.Glu1345Asp)
n.6266+13460G>T
2g.15218962C=CA2490796268NBASc.4229G=
c.4426+13460G=
c.754G=
c.2099G=
c.6243G= (p.Glu2081=)
c.512+13460G= (n.512+13460G=)
c.3386G=
n.6280+13460G=
c.6114G= (p.Glu2038=)
c.5604G= (p.Glu1868=)
c.4044G= (p.Glu1348=)
c.4035G= (p.Glu1345=)
n.6266+13460G=
2g.15218962C>GCA42584574NBASc.4229G>C
c.4426+13460G>C
c.754G>C
c.2099G>C
c.6243G>C (p.Glu2081Asp)
c.512+13460G>C (n.512+13460G>C)
c.3386G>C
n.6280+13460G>C
c.6114G>C (p.Glu2038Asp)
c.5604G>C (p.Glu1868Asp)
c.4044G>C (p.Glu1348Asp)
c.4035G>C (p.Glu1345Asp)
n.6266+13460G>C
 dbSNP
2g.15218962C>TCA424867015NBASc.4229G>A
c.4426+13460G>A
c.754G>A
c.2099G>A
c.6243G>A (p.Glu2081=)
c.512+13460G>A (n.512+13460G>A)
c.3386G>A
n.6280+13460G>A
c.6114G>A (p.Glu2038=)
c.5604G>A (p.Glu1868=)
c.4044G>A (p.Glu1348=)
c.4035G>A (p.Glu1345=)
n.6266+13460G>A
2g.15218965_15218967dupCA2657930727NBASc.4227_4229dup
c.4426+13458_4426+13460dup
c.752_754dup
c.2097_2099dup
c.6241_6243dup (p.Glu2081_Leu2082insGlu)
c.512+13458_512+13460dup (n.512+13458_512+13460dup)
c.3384_3386dup
n.6280+13458_6280+13460dup
c.6112_6114dup (p.Glu2038_Leu2039insGlu)
c.5602_5604dup (p.Glu1868_Leu1869insGlu)
c.4042_4044dup (p.Glu1348_Leu1349insGlu)
c.4033_4035dup (p.Glu1345_Leu1346insGlu)
n.6266+13458_6266+13460dup
 gnomAD v4
2g.15218963T>ACA345885172NBASc.4228A>T
c.4426+13459A>T
c.753A>T
c.2098A>T
c.6242A>T (p.Glu2081Val)
c.512+13459A>T (n.512+13459A>T)
c.3385A>T
n.6280+13459A>T
c.6113A>T (p.Glu2038Val)
c.5603A>T (p.Glu1868Val)
c.4043A>T (p.Glu1348Val)
c.4034A>T (p.Glu1345Val)
n.6266+13459A>T
2g.15218963T>CCA345885179NBASc.4228A>G
c.4426+13459A>G
c.753A>G
c.2098A>G
c.6242A>G (p.Glu2081Gly)
c.512+13459A>G (n.512+13459A>G)
c.3385A>G
n.6280+13459A>G
c.6113A>G (p.Glu2038Gly)
c.5603A>G (p.Glu1868Gly)
c.4043A>G (p.Glu1348Gly)
c.4034A>G (p.Glu1345Gly)
n.6266+13459A>G
 ClinVar
2g.15218963T>GCA345885184NBASc.4228A>C
c.4426+13459A>C
c.753A>C
c.2098A>C
c.6242A>C (p.Glu2081Ala)
c.512+13459A>C (n.512+13459A>C)
c.3385A>C
n.6280+13459A>C
c.6113A>C (p.Glu2038Ala)
c.5603A>C (p.Glu1868Ala)
c.4043A>C (p.Glu1348Ala)
c.4034A>C (p.Glu1345Ala)
n.6266+13459A>C
2g.15218964C>ACA345885187NBASc.4227G>T
c.4426+13458G>T
c.752G>T
c.2097G>T
c.6241G>T (p.Glu2081Ter)
c.512+13458G>T (n.512+13458G>T)
c.3384G>T
n.6280+13458G>T
c.6112G>T (p.Glu2038Ter)
c.5602G>T (p.Glu1868Ter)
c.4042G>T (p.Glu1348Ter)
c.4033G>T (p.Glu1345Ter)
n.6266+13458G>T
2g.15218964C=CA2490796269NBASc.4227G=
c.4426+13458G=
c.752G=
c.2097G=
c.6241G= (p.Glu2081=)
c.512+13458G= (n.512+13458G=)
c.3384G=
n.6280+13458G=
c.6112G= (p.Glu2038=)
c.5602G= (p.Glu1868=)
c.4042G= (p.Glu1348=)
c.4033G= (p.Glu1345=)
n.6266+13458G=
2g.15218964C>GCA345885188NBASc.4227G>C
c.4426+13458G>C
c.752G>C
c.2097G>C
c.6241G>C (p.Glu2081Gln)
c.512+13458G>C (n.512+13458G>C)
c.3384G>C
n.6280+13458G>C
c.6112G>C (p.Glu2038Gln)
c.5602G>C (p.Glu1868Gln)
c.4042G>C (p.Glu1348Gln)
c.4033G>C (p.Glu1345Gln)
n.6266+13458G>C
2g.15218964C>TCA1535063NBASc.4227G>A
c.4426+13458G>A
c.752G>A
c.2097G>A
c.6241G>A (p.Glu2081Lys)
c.512+13458G>A (n.512+13458G>A)
c.3384G>A
n.6280+13458G>A
c.6112G>A (p.Glu2038Lys)
c.5602G>A (p.Glu1868Lys)
c.4042G>A (p.Glu1348Lys)
c.4033G>A (p.Glu1345Lys)
n.6266+13458G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218965C>ACA345885189NBASc.4226G>T
c.4426+13457G>T
c.751G>T
c.2096G>T
c.6240G>T (p.Glu2080Asp)
c.512+13457G>T (n.512+13457G>T)
c.3383G>T
n.6280+13457G>T
c.6111G>T (p.Glu2037Asp)
c.5601G>T (p.Glu1867Asp)
c.4041G>T (p.Glu1347Asp)
c.4032G>T (p.Glu1344Asp)
n.6266+13457G>T
2g.15218965C=CA2490796270NBASc.4226G=
c.4426+13457G=
c.751G=
c.2096G=
c.6240G= (p.Glu2080=)
c.512+13457G= (n.512+13457G=)
c.3383G=
n.6280+13457G=
c.6111G= (p.Glu2037=)
c.5601G= (p.Glu1867=)
c.4041G= (p.Glu1347=)
c.4032G= (p.Glu1344=)
n.6266+13457G=
2g.15218965C>GCA345885193NBASc.4226G>C
c.4426+13457G>C
c.751G>C
c.2096G>C
c.6240G>C (p.Glu2080Asp)
c.512+13457G>C (n.512+13457G>C)
c.3383G>C
n.6280+13457G>C
c.6111G>C (p.Glu2037Asp)
c.5601G>C (p.Glu1867Asp)
c.4041G>C (p.Glu1347Asp)
c.4032G>C (p.Glu1344Asp)
n.6266+13457G>C
2g.15218965C>TCA424867016NBASc.4226G>A
c.4426+13457G>A
c.751G>A
c.2096G>A
c.6240G>A (p.Glu2080=)
c.512+13457G>A (n.512+13457G>A)
c.3383G>A
n.6280+13457G>A
c.6111G>A (p.Glu2037=)
c.5601G>A (p.Glu1867=)
c.4041G>A (p.Glu1347=)
c.4032G>A (p.Glu1344=)
n.6266+13457G>A
 dbSNP gnomAD v2

Number of alleles fetched