Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15218875C>A | CA424866953 | NBAS | c.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 | |
2 | g.15218875C>G | CA424866952 | NBAS | c.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 | |
2 | g.15218875C>T | CA424866951 | NBAS | c.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 | |
2 | g.15218876A>C | CA345884601 | NBAS | c.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 | |
2 | g.15218876A>G | CA345884604 | NBAS | c.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 | |
2 | g.15218876A>T | CA345884609 | NBAS | c.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 | |
2 | g.15218877G>A | CA424866954 | NBAS | c.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 |
2 | g.15218877G>C | CA345884613 | NBAS | c.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 | |
2 | g.15218877G>T | CA345884624 | NBAS | c.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 | |
2 | g.15218878C>A | CA424866955 | NBAS | c.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 | |
2 | g.15218878C= | CA2490796223 | NBAS | c.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= | |
2 | g.15218878C>G | CA424866956 | NBAS | c.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 | |
2 | g.15218878C>T | CA1535035 | NBAS | c.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 |
2 | g.15218879A>C | CA345884653 | NBAS | c.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 | |
2 | g.15218879A>G | CA345884649 | NBAS | c.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 | |
2 | g.15218879A>T | CA345884645 | NBAS | c.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 | |
2 | g.15218880C>A | CA345884655 | NBAS | c.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 | |
2 | g.15218880C= | CA2490796224 | NBAS | c.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= | |
2 | g.15218880C>G | CA345884658 | NBAS | c.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 |
2 | g.15218880C>T | CA1535036 | NBAS | c.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 |
2 | g.15218881G>A | CA42584433 | NBAS | c.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 |
2 | g.15218881G>C | CA345884667 | NBAS | c.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 | |
2 | g.15218881G= | CA2490796225 | NBAS | c.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= | |
2 | g.15218881G>T | CA1535037 | NBAS | c.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 |
2 | g.15218882T>A | CA345884670 | NBAS | c.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 | |
2 | g.15218882T>C | CA345884672 | NBAS | c.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 | |
2 | g.15218882T>G | CA345884676 | NBAS | c.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 | |
2 | g.15218883G>A | CA345884678 | NBAS | c.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 | |
2 | g.15218883G>C | CA345884681 | NBAS | c.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 | |
2 | g.15218883G>T | CA345884683 | NBAS | c.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 | |
2 | g.15218884A>C | CA345884685 | NBAS | c.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 |
2 | g.15218884A>G | CA424866957 | NBAS | c.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 | |
2 | g.15218884A>T | CA424866958 | NBAS | c.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 | |
2 | g.15218885A>C | CA345884690 | NBAS | c.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 | |
2 | g.15218885A>G | CA345884688 | NBAS | c.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 | |
2 | g.15218885A>T | CA345884687 | NBAS | c.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 | |
2 | g.15218886T>A | CA345884694 | NBAS | c.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 | |
2 | g.15218886T>C | CA345884697 | NBAS | c.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 |
2 | g.15218886T>G | CA345884696 | NBAS | c.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 | |
2 | g.15218886T= | CA2490796226 | NBAS | c.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= | |
2 | g.15218886_15218898dup | CA2657930725 | NBAS | c.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 |
2 | g.15218887G>A | CA424866959 | NBAS | c.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 | |
2 | g.15218887G>C | CA424866960 | NBAS | c.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 | |
2 | g.15218887G>T | CA424866961 | NBAS | c.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 |
2 | g.15218887_15218901del | CA2657930726 | NBAS | c.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 |
2 | g.15218888C>A | CA1535038 | NBAS | c.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 |
2 | g.15218888C= | CA2490796227 | NBAS | c.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= | |
2 | g.15218888C>G | CA345884708 | NBAS | c.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 | |
2 | g.15218888C>T | CA1535039 | NBAS | c.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 |
2 | g.15218888_15218889delinsCG | CA2490796228 | NBAS | c.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 | |
2 | g.15218889G>A | CA1535040 | NBAS | c.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 |
2 | g.15218889G>C | CA345884714 | NBAS | c.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 |
2 | g.15218889G= | CA2490796229 | NBAS | c.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= | |
2 | g.15218889G>T | CA345884711 | NBAS | c.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 | |
2 | g.15218892del | CA16617250 | NBAS | c.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 |
2 | g.15218890G>A | CA424866964 | NBAS | c.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 | |
2 | g.15218890G>C | CA424866962 | NBAS | c.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 |
2 | g.15218890G= | CA2490796230 | NBAS | c.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= | |
2 | g.15218890G>T | CA424866963 | NBAS | c.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 |
2 | g.15218891G>A | CA345884719 | NBAS | c.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 | |
2 | g.15218891G>C | CA345884723 | NBAS | c.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 | |
2 | g.15218891G>T | CA345884722 | NBAS | c.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 | |
2 | g.15218892G>A | CA345884724 | NBAS | c.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 | |
2 | g.15218892G>C | CA345884726 | NBAS | c.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 |
2 | g.15218892G= | CA2490796231 | NBAS | c.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= | |
2 | g.15218892G>T | CA345884725 | NBAS | c.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 |
2 | g.15218892_15218893delinsGC | CA2490796232 | NBAS | c.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 | |
2 | g.15218893C>A | CA424866965 | NBAS | c.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 | |
2 | g.15218893C>G | CA424866966 | NBAS | c.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 | |
2 | g.15218893C>T | CA424866967 | NBAS | c.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 |
2 | g.15218894del | CA758915134 | NBAS | c.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 |
2 | g.15218894C>A | CA345884727 | NBAS | c.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 |
2 | g.15218894C= | CA2490796233 | NBAS | c.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= | |
2 | g.15218894C>G | CA345884730 | NBAS | c.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 |
2 | g.15218894C>T | CA1535041 | NBAS | c.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 |
2 | g.15218895G>A | CA1535042 | NBAS | c.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 |
2 | g.15218895G>C | CA1535043 | NBAS | c.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 |
2 | g.15218895G= | CA2490796234 | NBAS | c.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= | |
2 | g.15218895G>T | CA424866968 | NBAS | c.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 | |
2 | g.15218896C>A | CA424866971 | NBAS | c.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 |
2 | g.15218896C= | CA2490796235 | NBAS | c.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= | |
2 | g.15218896C>G | CA424866969 | NBAS | c.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 | |
2 | g.15218896C>T | CA424866970 | NBAS | c.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 | |
2 | g.15218897A>C | CA345884738 | NBAS | c.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 | |
2 | g.15218897A>G | CA345884752 | NBAS | c.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 | |
2 | g.15218897A>T | CA345884755 | NBAS | c.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 | |
2 | g.15218897_15218898delinsAC | CA2490796236 | NBAS | c.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 | |
2 | g.15218898C>A | CA345884759 | NBAS | c.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 |
2 | g.15218898C= | CA2490796237 | NBAS | c.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= | |
2 | g.15218898C>G | CA1535044 | NBAS | c.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 |
2 | g.15218898C>T | CA42584460 | NBAS | c.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 |
2 | g.15218899del | CA758915144 | NBAS | c.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 |
2 | g.15218899C>A | CA424866972 | NBAS | c.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 |
2 | g.15218899C= | CA2490796238 | NBAS | c.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= | |
2 | g.15218899C>G | CA424866973 | NBAS | c.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 |
2 | g.15218899C>T | CA1535045 | NBAS | c.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 |
2 | g.15218901_15218908del | CA2576680242 | NBAS | c.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 |
2 | g.15218900G>A | CA1535047 | NBAS | c.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 |
2 | g.15218900G>C | CA1535046 | NBAS | c.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 |
2 | g.15218900G= | CA2490796239 | NBAS | c.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= | |
2 | g.15218900G>T | CA345884772 | NBAS | c.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 |
2 | g.15218901G>A | CA42584487 | NBAS | c.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 |
2 | g.15218901G>C | CA345884781 | NBAS | c.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 | |
2 | g.15218901G= | CA2490796240 | NBAS | c.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= | |
2 | g.15218901G>T | CA345884783 | NBAS | c.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 | |
2 | g.15218902C>A | CA345884788 | NBAS | c.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 |
2 | g.15218902C>G | CA345884790 | NBAS | c.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 | |
2 | g.15218902C>T | CA345884793 | NBAS | c.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 | |
2 | g.15218903C>A | CA345884795 | NBAS | c.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 | |
2 | g.15218903C>G | CA345884799 | NBAS | c.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 | |
2 | g.15218903C>T | CA345884802 | NBAS | c.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 | |
2 | g.15218904A= | CA2490796241 | NBAS | c.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= | |
2 | g.15218904A>C | CA345884806 | NBAS | c.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 | |
2 | g.15218904A>G | CA345884809 | NBAS | c.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 |
2 | g.15218904A>T | CA345884805 | NBAS | c.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 | |
2 | g.15218905G>A | CA424866974 | NBAS | c.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 | |
2 | g.15218905G>C | CA424866975 | NBAS | c.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 | |
2 | g.15218905G>T | CA424866976 | NBAS | c.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 |
2 | g.15218906G>A | CA345884813 | NBAS | c.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 | |
2 | g.15218906G>C | CA345884815 | NBAS | c.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 |
2 | g.15218906G>T | CA345884818 | NBAS | c.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 | |
2 | g.15218907C>A | CA1535049 | NBAS | c.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 |
2 | g.15218907C= | CA2490796242 | NBAS | c.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= | |
2 | g.15218907C>G | CA345884822 | NBAS | c.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 |
2 | g.15218907C>T | CA1535048 | NBAS | c.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 |
2 | g.15218908G>A | CA424866977 | NBAS | c.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 |
2 | g.15218908G>C | CA345884826 | NBAS | c.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 | |
2 | g.15218908G= | CA2490796243 | NBAS | c.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= | |
2 | g.15218908G>T | CA345884827 | NBAS | c.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 | |
2 | g.15218909T>A | CA345884830 | NBAS | c.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 |
2 | g.15218909T>C | CA345884834 | NBAS | c.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 | |
2 | g.15218909T>G | CA345884835 | NBAS | c.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 | |
2 | g.15218910C>A | CA345884838 | NBAS | c.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 |
2 | g.15218910C= | CA2490796244 | NBAS | c.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= | |
2 | g.15218910C>G | CA345884840 | NBAS | c.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 | |
2 | g.15218910C>T | CA345884837 | NBAS | c.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 | |
2 | g.15218911A>C | CA345884842 | NBAS | c.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 | |
2 | g.15218911A>G | CA424866978 | NBAS | c.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 | |
2 | g.15218911A>T | CA345884843 | NBAS | c.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 | |
2 | g.15218912T>A | CA345884845 | NBAS | c.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 |
2 | g.15218912T>C | CA345884846 | NBAS | c.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 | |
2 | g.15218912T>G | CA345884850 | NBAS | c.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 | |
2 | g.15218913C>A | CA345884860 | NBAS | c.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 | |
2 | g.15218913C>G | CA345884854 | NBAS | c.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 | |
2 | g.15218913C>T | CA345884857 | NBAS | c.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 | |
2 | g.15218914A>C | CA424866979 | NBAS | c.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 | |
2 | g.15218914A>G | CA424866980 | NBAS | c.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 |
2 | g.15218914A>T | CA424866981 | NBAS | c.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 | |
2 | g.15218915G>A | CA1535050 | NBAS | c.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 |
2 | g.15218915G>C | CA345884864 | NBAS | c.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 | |
2 | g.15218915G= | CA2490796245 | NBAS | c.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= | |
2 | g.15218915G>T | CA345884873 | NBAS | c.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 | |
2 | g.15218916C>A | CA345884874 | NBAS | c.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 | |
2 | g.15218916C>G | CA345884875 | NBAS | c.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 | |
2 | g.15218916C>T | CA345884876 | NBAS | c.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 |
2 | g.15218917A>C | CA345884878 | NBAS | c.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 | |
2 | g.15218917A>G | CA424866982 | NBAS | c.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 | |
2 | g.15218917A>T | CA345884880 | NBAS | c.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 | |
2 | g.15218918C>A | CA345884885 | NBAS | c.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 | |
2 | g.15218918C= | CA2490796246 | NBAS | c.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= | |
2 | g.15218918C>G | CA345884890 | NBAS | c.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 | |
2 | g.15218918C>T | CA345884888 | NBAS | c.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 |
2 | g.15218919A= | CA2490796247 | NBAS | c.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= | |
2 | g.15218919A>C | CA345884892 | NBAS | c.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 | |
2 | g.15218919A>G | CA345884894 | NBAS | c.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 | |
2 | g.15218919A>T | CA345884898 | NBAS | c.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 | |
2 | g.15218920G>A | CA1535051 | NBAS | c.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 |
2 | g.15218920G>C | CA345884905 | NBAS | c.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 | |
2 | g.15218920G= | CA2490796248 | NBAS | c.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= | |
2 | g.15218920G>T | CA345884908 | NBAS | c.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 | |
2 | g.15218921_15218925dup | CA758915191 | NBAS | c.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 |
2 | g.15218920_15218921insTT | CA531314714 | NBAS | c.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 |
2 | g.15218921A= | CA2490796249 | NBAS | c.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= | |
2 | g.15218921A>C | CA345884911 | NBAS | c.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 | |
2 | g.15218921A>G | CA1535052 | NBAS | c.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 |
2 | g.15218921A>T | CA345884912 | NBAS | c.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 | |
2 | g.15218921_15218922insGTAGAGATGGGGTTTTGTCATGTTGGCCAGGTGCCAGGCTGGTCTTG | CA531314715 | NBAS | c.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 |
2 | g.15218922A= | CA2490796250 | NBAS | c.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= | |
2 | g.15218922A>C | CA345884914 | NBAS | c.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 | |
2 | g.15218922A>G | CA345884917 | NBAS | c.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 |
2 | g.15218922A>T | CA1535053 | NBAS | c.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 |
2 | g.15218923A= | CA2490796251 | NBAS | c.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= | |
2 | g.15218923A>C | CA424866983 | NBAS | c.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 | |
2 | g.15218923A>G | CA424866984 | NBAS | c.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 | |
2 | g.15218923A>T | CA424866985 | NBAS | c.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 | |
2 | g.15218923_15218924insCTCCT | CA531314716 | NBAS | c.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 |
2 | g.15218924G>A | CA1535054 | NBAS | c.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 |
2 | g.15218924G>C | CA345884936 | NBAS | c.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 |
2 | g.15218924G= | CA2490796252 | NBAS | c.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= | |
2 | g.15218924G>T | CA345884934 | NBAS | c.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 | |
2 | g.15218925_15218928del | CA2576680243 | NBAS | c.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 | |
2 | g.15218925G>A | CA345884939 | NBAS | c.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 | |
2 | g.15218925G>C | CA1535056 | NBAS | c.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 |
2 | g.15218925G= | CA2490796253 | NBAS | c.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= | |
2 | g.15218925G>T | CA1535055 | NBAS | c.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 |
2 | g.15218926C>A | CA424866986 | NBAS | c.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 | |
2 | g.15218926C= | CA2490796254 | NBAS | c.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= | |
2 | g.15218926C>G | CA424866987 | NBAS | c.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 | |
2 | g.15218926C>T | CA1535057 | NBAS | c.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 |
2 | g.15218927C>A | CA345884962 | NBAS | c.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 | |
2 | g.15218927C= | CA2490796255 | NBAS | c.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= | |
2 | g.15218927C>G | CA345884968 | NBAS | c.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 | |
2 | g.15218927C>T | CA1535058 | NBAS | c.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 |
2 | g.15218928G>A | CA1535060 | NBAS | c.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 |
2 | g.15218928G>C | CA1535059 | NBAS | c.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 |
2 | g.15218928G= | CA2490796256 | NBAS | c.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= | |
2 | g.15218928G>T | CA424866988 | NBAS | c.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 | |
2 | g.15218929C>A | CA424866989 | NBAS | c.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 | |
2 | g.15218929C= | CA2490796257 | NBAS | c.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= | |
2 | g.15218929C>G | CA424866991 | NBAS | c.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 |
2 | g.15218929C>T | CA424866990 | NBAS | c.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 |
2 | g.15218930A>C | CA345884987 | NBAS | c.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 | |
2 | g.15218930A>G | CA345884990 | NBAS | c.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 | |
2 | g.15218930A>T | CA345884986 | NBAS | c.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 | |
2 | g.15218931G>A | CA424866992 | NBAS | c.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 | |
2 | g.15218931G>C | CA345884994 | NBAS | c.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 |
2 | g.15218931G>T | CA345884996 | NBAS | c.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 | |
2 | g.15218932C>A | CA345884999 | NBAS | c.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 | |
2 | g.15218932C>G | CA345885003 | NBAS | c.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 | |
2 | g.15218932C>T | CA345885008 | NBAS | c.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 | |
2 | g.15218933C>A | CA345885018 | NBAS | c.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 | |
2 | g.15218933C>G | CA345885014 | NBAS | c.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 | |
2 | g.15218933C>T | CA345885010 | NBAS | c.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 | |
2 | g.15218934A= | CA2490796258 | NBAS | c.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= | |
2 | g.15218934A>C | CA345885022 | NBAS | c.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 |
2 | g.15218934A>G | CA345885024 | NBAS | c.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 |
2 | g.15218934A>T | CA345885026 | NBAS | c.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 |
2 | g.15218935C>A | CA345885028 | NBAS | c.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 |
2 | g.15218935C= | CA2490796259 | NBAS | c.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= | |
2 | g.15218935C>G | CA345885030 | NBAS | c.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 | |
2 | g.15218935C>T | CA1535061 | NBAS | c.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 |
2 | g.15218936T>A | CA345885049 | NBAS | c.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 | |
2 | g.15218936T>C | CA345885053 | NBAS | c.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 | |
2 | g.15218936T>G | CA345885052 | NBAS | c.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 | |
2 | g.15218937C>A | CA345885056 | NBAS | c.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 | |
2 | g.15218937C>G | CA345885058 | NBAS | c.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 | |
2 | g.15218937C>T | CA345885062 | NBAS | c.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 | |
2 | g.15218938C>A | CA424866995 | NBAS | c.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 |
2 | g.15218938C>G | CA424866994 | NBAS | c.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 | |
2 | g.15218938C>T | CA424866993 | NBAS | c.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 | |
2 | g.15218939A>C | CA345885064 | NBAS | c.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 | |
2 | g.15218939A>G | CA345885065 | NBAS | c.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 | |
2 | g.15218939A>T | CA345885066 | NBAS | c.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 | |
2 | g.15218940G>A | CA1535062 | NBAS | c.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 |
2 | g.15218940G>C | CA345885068 | NBAS | c.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 | |
2 | g.15218940G= | CA2490796260 | NBAS | c.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= | |
2 | g.15218940G>T | CA345885072 | NBAS | c.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 | |
2 | g.15218941C>A | CA424866996 | NBAS | c.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 |
2 | g.15218941C= | CA2490796261 | NBAS | c.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= | |
2 | g.15218941C>G | CA424866997 | NBAS | c.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 | |
2 | g.15218941C>T | CA424866998 | NBAS | c.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 | |
2 | g.15218942A>C | CA345885074 | NBAS | c.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 |
2 | g.15218942A>G | CA345885075 | NBAS | c.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 | |
2 | g.15218942A>T | CA345885078 | NBAS | c.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 | |
2 | g.15218943G>A | CA424866999 | NBAS | c.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 |
2 | g.15218943G>C | CA345885080 | NBAS | c.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 |
2 | g.15218943G>T | CA345885083 | NBAS | c.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 | |
2 | g.15218944G>A | CA424867000 | NBAS | c.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 |
2 | g.15218944G>C | CA345885086 | NBAS | c.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 | |
2 | g.15218944G= | CA2490796262 | NBAS | c.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= | |
2 | g.15218944G>T | CA345885090 | NBAS | c.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 | |
2 | g.15218945T>A | CA345885092 | NBAS | c.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 | |
2 | g.15218945T>C | CA345885097 | NBAS | c.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 | |
2 | g.15218945T>G | CA345885098 | NBAS | c.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 | |
2 | g.15218946C>A | CA345885100 | NBAS | c.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 | |
2 | g.15218946C>G | CA345885102 | NBAS | c.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 | |
2 | g.15218946C>T | CA345885107 | NBAS | c.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 | |
2 | g.15218947C>A | CA345885114 | NBAS | c.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 | |
2 | g.15218947C= | CA2490796263 | NBAS | c.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= | |
2 | g.15218947C>G | CA345885110 | NBAS | c.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 | |
2 | g.15218947C>T | CA424867001 | NBAS | c.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 |
2 | g.15218948T>A | CA345885117 | NBAS | c.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 |
2 | g.15218948T>C | CA345885121 | NBAS | c.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 | |
2 | g.15218948T>G | CA345885123 | NBAS | c.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 | |
2 | g.15218949C>A | CA345885125 | NBAS | c.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 | |
2 | g.15218949C= | CA2490796264 | NBAS | c.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= | |
2 | g.15218949C>G | CA345885128 | NBAS | c.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 | |
2 | g.15218949C>T | CA345885129 | NBAS | c.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 |
2 | g.15218950A= | CA2490796265 | NBAS | c.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= | |
2 | g.15218950A>C | CA424867002 | NBAS | c.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 | |
2 | g.15218950A>G | CA424867003 | NBAS | c.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 |
2 | g.15218950A>T | CA424867004 | NBAS | c.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 | |
2 | g.15218951G>A | CA345885134 | NBAS | c.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 |
2 | g.15218951G>C | CA345885131 | NBAS | c.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 | |
2 | g.15218951G= | CA2490796266 | NBAS | c.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= | |
2 | g.15218951G>T | CA345885132 | NBAS | c.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 | |
2 | g.15218952G>A | CA345885135 | NBAS | c.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 |
2 | g.15218952G>C | CA345885138 | NBAS | c.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 | |
2 | g.15218952G>T | CA345885139 | NBAS | c.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 | |
2 | g.15218953T>A | CA424867005 | NBAS | c.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 | |
2 | g.15218953T>C | CA424867006 | NBAS | c.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 | |
2 | g.15218953T>G | CA424867007 | NBAS | c.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 |
2 | g.15218953T= | CA2490796267 | NBAS | c.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= | |
2 | g.15218954G>A | CA345885141 | NBAS | c.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 |
2 | g.15218954G>C | CA345885142 | NBAS | c.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 | |
2 | g.15218954G>T | CA345885143 | NBAS | c.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 | |
2 | g.15218955A>C | CA345885144 | NBAS | c.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 | |
2 | g.15218955A>G | CA345885145 | NBAS | c.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 | |
2 | g.15218955A>T | CA345885147 | NBAS | c.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 | |
2 | g.15218956A>C | CA424867008 | NBAS | c.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 | |
2 | g.15218956A>G | CA424867009 | NBAS | c.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 | |
2 | g.15218956A>T | CA424867010 | NBAS | c.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 | |
2 | g.15218957A>C | CA345885151 | NBAS | c.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 | |
2 | g.15218957A>G | CA345885154 | NBAS | c.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 | |
2 | g.15218957A>T | CA345885156 | NBAS | c.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 | |
2 | g.15218958C>A | CA345885158 | NBAS | c.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 | |
2 | g.15218958C>G | CA345885160 | NBAS | c.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 | |
2 | g.15218958C>T | CA345885159 | NBAS | c.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 | |
2 | g.15218959del | CA2576680244 | NBAS | c.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 | |
2 | g.15218959C>A | CA424867011 | NBAS | c.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 | |
2 | g.15218959C>G | CA424867013 | NBAS | c.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 | |
2 | g.15218959C>T | CA424867012 | NBAS | c.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 | |
2 | g.15218960A>C | CA345885161 | NBAS | c.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 | |
2 | g.15218960A>G | CA345885162 | NBAS | c.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 | |
2 | g.15218960A>T | CA345885165 | NBAS | c.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 | |
2 | g.15218961G>A | CA424867014 | NBAS | c.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 | |
2 | g.15218961G>C | CA345885167 | NBAS | c.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 |
2 | g.15218961G>T | CA345885168 | NBAS | c.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 | |
2 | g.15218962C>A | CA345885170 | NBAS | c.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 | |
2 | g.15218962C= | CA2490796268 | NBAS | c.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= | |
2 | g.15218962C>G | CA42584574 | NBAS | c.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 |
2 | g.15218962C>T | CA424867015 | NBAS | c.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 | |
2 | g.15218965_15218967dup | CA2657930727 | NBAS | c.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 |
2 | g.15218963T>A | CA345885172 | NBAS | c.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 | |
2 | g.15218963T>C | CA345885179 | NBAS | c.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 |
2 | g.15218963T>G | CA345885184 | NBAS | c.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 | |
2 | g.15218964C>A | CA345885187 | NBAS | c.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 | |
2 | g.15218964C= | CA2490796269 | NBAS | c.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= | |
2 | g.15218964C>G | CA345885188 | NBAS | c.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 | |
2 | g.15218964C>T | CA1535063 | NBAS | c.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 |
2 | g.15218965C>A | CA345885189 | NBAS | c.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 | |
2 | g.15218965C= | CA2490796270 | NBAS | c.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= | |
2 | g.15218965C>G | CA345885193 | NBAS | c.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 | |
2 | g.15218965C>T | CA424867016 | NBAS | c.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 |
2 | g.15218966T>A | CA345885196 | NBAS | c.4225A>T c.4426+13456A>T c.750A>T c.2095A>T c.6239A>T (p.Glu2080Val) c.512+13456A>T (n.512+13456A>T) c.3382A>T n.6280+13456A>T c.6110A>T (p.Glu2037Val) c.5600A>T (p.Glu1867Val) c.4040A>T (p.Glu1347Val) c.4031A>T (p.Glu1344Val) n.6266+13456A>T | |
2 | g.15218966T>C | CA345885198 | NBAS | c.4225A>G c.4426+13456A>G c.750A>G c.2095A>G c.6239A>G (p.Glu2080Gly) c.512+13456A>G (n.512+13456A>G) c.3382A>G n.6280+13456A>G c.6110A>G (p.Glu2037Gly) c.5600A>G (p.Glu1867Gly) c.4040A>G (p.Glu1347Gly) c.4031A>G (p.Glu1344Gly) n.6266+13456A>G | gnomAD v4 |
2 | g.15218966T>G | CA345885201 | NBAS | c.4225A>C c.4426+13456A>C c.750A>C c.2095A>C c.6239A>C (p.Glu2080Ala) c.512+13456A>C (n.512+13456A>C) c.3382A>C n.6280+13456A>C c.6110A>C (p.Glu2037Ala) c.5600A>C (p.Glu1867Ala) c.4040A>C (p.Glu1347Ala) c.4031A>C (p.Glu1344Ala) n.6266+13456A>C | |
2 | g.15218967C>A | CA345885203 | NBAS | c.4224G>T c.4426+13455G>T c.749G>T c.2094G>T c.6238G>T (p.Glu2080Ter) c.512+13455G>T (n.512+13455G>T) c.3381G>T n.6280+13455G>T c.6109G>T (p.Glu2037Ter) c.5599G>T (p.Glu1867Ter) c.4039G>T (p.Glu1347Ter) c.4030G>T (p.Glu1344Ter) n.6266+13455G>T | COSMIC |
2 | g.15218967C>G | CA345885207 | NBAS | c.4224G>C c.4426+13455G>C c.749G>C c.2094G>C c.6238G>C (p.Glu2080Gln) c.512+13455G>C (n.512+13455G>C) c.3381G>C n.6280+13455G>C c.6109G>C (p.Glu2037Gln) c.5599G>C (p.Glu1867Gln) c.4039G>C (p.Glu1347Gln) c.4030G>C (p.Glu1344Gln) n.6266+13455G>C | |
2 | g.15218967C>T | CA345885211 | NBAS | c.4224G>A c.4426+13455G>A c.749G>A c.2094G>A c.6238G>A (p.Glu2080Lys) c.512+13455G>A (n.512+13455G>A) c.3381G>A n.6280+13455G>A c.6109G>A (p.Glu2037Lys) c.5599G>A (p.Glu1867Lys) c.4039G>A (p.Glu1347Lys) c.4030G>A (p.Glu1344Lys) n.6266+13455G>A | gnomAD v4 |
2 | g.15218968A= | CA2490796271 | NBAS | c.4223T= c.4426+13454T= c.748T= c.2093T= c.6237T= (p.Gly2079=) c.512+13454T= (n.512+13454T=) c.3380T= n.6280+13454T= c.6108T= (p.Gly2036=) c.5598T= (p.Gly1866=) c.4038T= (p.Gly1346=) c.4029T= (p.Gly1343=) n.6266+13454T= | |
2 | g.15218968A>C | CA424867017 | NBAS | c.4223T>G c.4426+13454T>G c.748T>G c.2093T>G c.6237T>G (p.Gly2079=) c.512+13454T>G (n.512+13454T>G) c.3380T>G n.6280+13454T>G c.6108T>G (p.Gly2036=) c.5598T>G (p.Gly1866=) c.4038T>G (p.Gly1346=) c.4029T>G (p.Gly1343=) n.6266+13454T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15218968A>G | CA424867018 | NBAS | c.4223T>C c.4426+13454T>C c.748T>C c.2093T>C c.6237T>C (p.Gly2079=) c.512+13454T>C (n.512+13454T>C) c.3380T>C n.6280+13454T>C c.6108T>C (p.Gly2036=) c.5598T>C (p.Gly1866=) c.4038T>C (p.Gly1346=) c.4029T>C (p.Gly1343=) n.6266+13454T>C | |
2 | g.15218968A>T | CA424867019 | NBAS | c.4223T>A c.4426+13454T>A c.748T>A c.2093T>A c.6237T>A (p.Gly2079=) c.512+13454T>A (n.512+13454T>A) c.3380T>A n.6280+13454T>A c.6108T>A (p.Gly2036=) c.5598T>A (p.Gly1866=) c.4038T>A (p.Gly1346=) c.4029T>A (p.Gly1343=) n.6266+13454T>A | |
2 | g.15218969C>A | CA345885213 | NBAS | c.4223-1G>T c.4426+13453G>T c.748-1G>T c.2093-1G>T c.6237-1G>T (n.6237-1G>T) c.512+13453G>T (n.512+13453G>T) c.3380-1G>T n.6280+13453G>T c.6108-1G>T (n.6108-1G>T) c.5598-1G>T (n.5598-1G>T) c.4038-1G>T (n.4038-1G>T) c.4029-1G>T (n.4029-1G>T) n.6266+13453G>T | gnomAD v4 |
2 | g.15218969C>G | CA345885214 | NBAS | c.4223-1G>C c.4426+13453G>C c.748-1G>C c.2093-1G>C c.6237-1G>C (n.6237-1G>C) c.512+13453G>C (n.512+13453G>C) c.3380-1G>C n.6280+13453G>C c.6108-1G>C (n.6108-1G>C) c.5598-1G>C (n.5598-1G>C) c.4038-1G>C (n.4038-1G>C) c.4029-1G>C (n.4029-1G>C) n.6266+13453G>C | |
2 | g.15218969C>T | CA345885216 | NBAS | c.4223-1G>A c.4426+13453G>A c.748-1G>A c.2093-1G>A c.6237-1G>A (n.6237-1G>A) c.512+13453G>A (n.512+13453G>A) c.3380-1G>A n.6280+13453G>A c.6108-1G>A (n.6108-1G>A) c.5598-1G>A (n.5598-1G>A) c.4038-1G>A (n.4038-1G>A) c.4029-1G>A (n.4029-1G>A) n.6266+13453G>A | COSMIC |
2 | g.15218970T>A | CA345885221 | NBAS | c.4223-2A>T c.4426+13452A>T c.748-2A>T c.2093-2A>T c.6237-2A>T (n.6237-2A>T) c.512+13452A>T (n.512+13452A>T) c.3380-2A>T n.6280+13452A>T c.6108-2A>T (n.6108-2A>T) c.5598-2A>T (n.5598-2A>T) c.4038-2A>T (n.4038-2A>T) c.4029-2A>T (n.4029-2A>T) n.6266+13452A>T | |
2 | g.15218970T>C | CA345885223 | NBAS | c.4223-2A>G c.4426+13452A>G c.748-2A>G c.2093-2A>G c.6237-2A>G (n.6237-2A>G) c.512+13452A>G (n.512+13452A>G) c.3380-2A>G n.6280+13452A>G c.6108-2A>G (n.6108-2A>G) c.5598-2A>G (n.5598-2A>G) c.4038-2A>G (n.4038-2A>G) c.4029-2A>G (n.4029-2A>G) n.6266+13452A>G | gnomAD v4 |
2 | g.15218970T>G | CA345885228 | NBAS | c.4223-2A>C c.4426+13452A>C c.748-2A>C c.2093-2A>C c.6237-2A>C (n.6237-2A>C) c.512+13452A>C (n.512+13452A>C) c.3380-2A>C n.6280+13452A>C c.6108-2A>C (n.6108-2A>C) c.5598-2A>C (n.5598-2A>C) c.4038-2A>C (n.4038-2A>C) c.4029-2A>C (n.4029-2A>C) n.6266+13452A>C | |
2 | g.15218971G>C | CA1535064 | NBAS | c.4223-3C>G c.4426+13451C>G c.748-3C>G c.2093-3C>G c.6237-3C>G (n.6237-3C>G) c.512+13451C>G (n.512+13451C>G) c.3380-3C>G n.6280+13451C>G c.6108-3C>G (n.6108-3C>G) c.5598-3C>G (n.5598-3C>G) c.4038-3C>G (n.4038-3C>G) c.4029-3C>G (n.4029-3C>G) n.6266+13451C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218971G= | CA2490796272 | NBAS | c.4223-3C= c.4426+13451C= c.748-3C= c.2093-3C= c.6237-3C= (n.6237-3C=) c.512+13451C= (n.512+13451C=) c.3380-3C= n.6280+13451C= c.6108-3C= (n.6108-3C=) c.5598-3C= (n.5598-3C=) c.4038-3C= (n.4038-3C=) c.4029-3C= (n.4029-3C=) n.6266+13451C= | |
2 | g.15218972C>T | CA2657930728 | NBAS | c.4223-4G>A c.4426+13450G>A c.748-4G>A c.2093-4G>A c.6237-4G>A (n.6237-4G>A) c.512+13450G>A (n.512+13450G>A) c.3380-4G>A n.6280+13450G>A c.6108-4G>A (n.6108-4G>A) c.5598-4G>A (n.5598-4G>A) c.4038-4G>A (n.4038-4G>A) c.4029-4G>A (n.4029-4G>A) n.6266+13450G>A | gnomAD v4 |
2 | g.15218973A= | CA2490796273 | NBAS | c.4223-5T= c.4426+13449T= c.748-5T= c.2093-5T= c.6237-5T= (n.6237-5T=) c.512+13449T= (n.512+13449T=) c.3380-5T= n.6280+13449T= c.6108-5T= (n.6108-5T=) c.5598-5T= (n.5598-5T=) c.4038-5T= (n.4038-5T=) c.4029-5T= (n.4029-5T=) n.6266+13449T= | |
2 | g.15218973A>C | CA2657930729 | NBAS | c.4223-5T>G c.4426+13449T>G c.748-5T>G c.2093-5T>G c.6237-5T>G (n.6237-5T>G) c.512+13449T>G (n.512+13449T>G) c.3380-5T>G n.6280+13449T>G c.6108-5T>G (n.6108-5T>G) c.5598-5T>G (n.5598-5T>G) c.4038-5T>G (n.4038-5T>G) c.4029-5T>G (n.4029-5T>G) n.6266+13449T>G | gnomAD v4 |
2 | g.15218973A>G | CA1535065 | NBAS | c.4223-5T>C c.4426+13449T>C c.748-5T>C c.2093-5T>C c.6237-5T>C (n.6237-5T>C) c.512+13449T>C (n.512+13449T>C) c.3380-5T>C n.6280+13449T>C c.6108-5T>C (n.6108-5T>C) c.5598-5T>C (n.5598-5T>C) c.4038-5T>C (n.4038-5T>C) c.4029-5T>C (n.4029-5T>C) n.6266+13449T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15218974G>A | CA2580063608 | NBAS | c.4223-6C>T c.4426+13448C>T c.748-6C>T c.2093-6C>T c.6237-6C>T (n.6237-6C>T) c.512+13448C>T (n.512+13448C>T) c.3380-6C>T n.6280+13448C>T c.6108-6C>T (n.6108-6C>T) c.5598-6C>T (n.5598-6C>T) c.4038-6C>T (n.4038-6C>T) c.4029-6C>T (n.4029-6C>T) n.6266+13448C>T | ClinVar |
2 | g.15218975G>A | CA758915323 | NBAS | c.4223-7C>T c.4426+13447C>T c.748-7C>T c.2093-7C>T c.6237-7C>T (n.6237-7C>T) c.512+13447C>T (n.512+13447C>T) c.3380-7C>T n.6280+13447C>T c.6108-7C>T (n.6108-7C>T) c.5598-7C>T (n.5598-7C>T) c.4038-7C>T (n.4038-7C>T) c.4029-7C>T (n.4029-7C>T) n.6266+13447C>T | dbSNP gnomAD v4 |
2 | g.15218975G= | CA2490796274 | NBAS | c.4223-7C= c.4426+13447C= c.748-7C= c.2093-7C= c.6237-7C= (n.6237-7C=) c.512+13447C= (n.512+13447C=) c.3380-7C= n.6280+13447C= c.6108-7C= (n.6108-7C=) c.5598-7C= (n.5598-7C=) c.4038-7C= (n.4038-7C=) c.4029-7C= (n.4029-7C=) n.6266+13447C= |