Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.67128621C>ACA8722766HELZc.3387+30G>T (n.3387+30G>T)
c.3420G>T (p.Arg1140Ser)
c.3390+30G>T (n.3390+30G>T)
c.3468+30G>T (n.3468+30G>T)
c.3366+30G>T (n.3366+30G>T)
c.3471+30G>T (n.3471+30G>T)
c.2766+30G>T (n.2766+30G>T)
c.2295+30G>T (n.2295+30G>T)
n.3462+30G>T
c.2682+30G>T (n.2682+30G>T)
c.2214+30G>T (n.2214+30G>T)
n.3592G>T
n.3414+30G>T
n.3330+30G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67128621C=CA2271597956HELZc.3387+30G= (n.3387+30G=)
c.3420G= (p.Arg1140=)
c.3390+30G= (n.3390+30G=)
c.3468+30G= (n.3468+30G=)
c.3366+30G= (n.3366+30G=)
c.3471+30G= (n.3471+30G=)
c.2766+30G= (n.2766+30G=)
c.2295+30G= (n.2295+30G=)
n.3462+30G=
c.2682+30G= (n.2682+30G=)
c.2214+30G= (n.2214+30G=)
n.3592G=
n.3414+30G=
n.3330+30G=
17g.67128622C>ACA8722767HELZc.3387+29G>T (n.3387+29G>T)
c.3419G>T (p.Arg1140Met)
c.3390+29G>T (n.3390+29G>T)
c.3468+29G>T (n.3468+29G>T)
c.3366+29G>T (n.3366+29G>T)
c.3471+29G>T (n.3471+29G>T)
c.2766+29G>T (n.2766+29G>T)
c.2295+29G>T (n.2295+29G>T)
n.3462+29G>T
c.2682+29G>T (n.2682+29G>T)
c.2214+29G>T (n.2214+29G>T)
n.3591G>T
n.3414+29G>T
n.3330+29G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67128622C=CA2271597957HELZc.3387+29G= (n.3387+29G=)
c.3419G= (p.Arg1140=)
c.3390+29G= (n.3390+29G=)
c.3468+29G= (n.3468+29G=)
c.3366+29G= (n.3366+29G=)
c.3471+29G= (n.3471+29G=)
c.2766+29G= (n.2766+29G=)
c.2295+29G= (n.2295+29G=)
n.3462+29G=
c.2682+29G= (n.2682+29G=)
c.2214+29G= (n.2214+29G=)
n.3591G=
n.3414+29G=
n.3330+29G=
17g.67128622C>TCA985685191HELZc.3387+29G>A (n.3387+29G>A)
c.3419G>A (p.Arg1140Lys)
c.3390+29G>A (n.3390+29G>A)
c.3468+29G>A (n.3468+29G>A)
c.3366+29G>A (n.3366+29G>A)
c.3471+29G>A (n.3471+29G>A)
c.2766+29G>A (n.2766+29G>A)
c.2295+29G>A (n.2295+29G>A)
n.3462+29G>A
c.2682+29G>A (n.2682+29G>A)
c.2214+29G>A (n.2214+29G>A)
n.3591G>A
n.3414+29G>A
n.3330+29G>A
 dbSNP gnomAD v3 gnomAD v4
17g.67128692_67128693insAATGCTCTTCAATTTCATTAACAGAGGCTTTACCTTGGGTGGTGATTGCTGCTGTTTGTTGGTACTTCCTGAATGCA2639441644HELZc.3387+29_3387+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
c.3419_3420insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG (p.Lys1139_Arg1140insSerIleHisSerGlySerThrAsnLysGlnGlnGlnSerProProLysValLysProLeuLeuMetLysLeuLys)
c.3390+29_3390+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
c.3468+29_3468+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
c.3366+29_3366+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
c.3471+29_3471+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
c.2766+29_2766+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
c.2295+29_2295+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
n.3462+29_3462+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
c.2682+29_2682+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
c.2214+29_2214+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
n.3591_3592insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
n.3414+29_3414+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
n.3330+29_3330+30insCATTCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGTAAAGCCTCTGTTAATGAAATTGAAGAG
 gnomAD v4
17g.67128623T>CCA2271597959HELZc.3387+28A>G (n.3387+28A>G)
c.3418A>G (p.Arg1140Gly)
c.3390+28A>G (n.3390+28A>G)
c.3468+28A>G (n.3468+28A>G)
c.3366+28A>G (n.3366+28A>G)
c.3471+28A>G (n.3471+28A>G)
c.2766+28A>G (n.2766+28A>G)
c.2295+28A>G (n.2295+28A>G)
n.3462+28A>G
c.2682+28A>G (n.2682+28A>G)
c.2214+28A>G (n.2214+28A>G)
n.3590A>G
n.3414+28A>G
n.3330+28A>G
 dbSNP
17g.67128623T=CA2271597958HELZc.3387+28A= (n.3387+28A=)
c.3418A= (p.Arg1140=)
c.3390+28A= (n.3390+28A=)
c.3468+28A= (n.3468+28A=)
c.3366+28A= (n.3366+28A=)
c.3471+28A= (n.3471+28A=)
c.2766+28A= (n.2766+28A=)
c.2295+28A= (n.2295+28A=)
n.3462+28A=
c.2682+28A= (n.2682+28A=)
c.2214+28A= (n.2214+28A=)
n.3590A=
n.3414+28A=
n.3330+28A=
17g.67128625T>GCA8722768HELZc.3387+26A>C (n.3387+26A>C)
c.3416A>C (p.Lys1139Thr)
c.3390+26A>C (n.3390+26A>C)
c.3468+26A>C (n.3468+26A>C)
c.3366+26A>C (n.3366+26A>C)
c.3471+26A>C (n.3471+26A>C)
c.2766+26A>C (n.2766+26A>C)
c.2295+26A>C (n.2295+26A>C)
n.3462+26A>C
c.2682+26A>C (n.2682+26A>C)
c.2214+26A>C (n.2214+26A>C)
n.3588A>C
n.3414+26A>C
n.3330+26A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67128625T=CA2271597960HELZc.3387+26A= (n.3387+26A=)
c.3416A= (p.Lys1139=)
c.3390+26A= (n.3390+26A=)
c.3468+26A= (n.3468+26A=)
c.3366+26A= (n.3366+26A=)
c.3471+26A= (n.3471+26A=)
c.2766+26A= (n.2766+26A=)
c.2295+26A= (n.2295+26A=)
n.3462+26A=
c.2682+26A= (n.2682+26A=)
c.2214+26A= (n.2214+26A=)
n.3588A=
n.3414+26A=
n.3330+26A=
17g.67128626T=CA2271597961HELZc.3387+25A= (n.3387+25A=)
c.3415A= (p.Lys1139=)
c.3390+25A= (n.3390+25A=)
c.3468+25A= (n.3468+25A=)
c.3366+25A= (n.3366+25A=)
c.3471+25A= (n.3471+25A=)
c.2766+25A= (n.2766+25A=)
c.2295+25A= (n.2295+25A=)
n.3462+25A=
c.2682+25A= (n.2682+25A=)
c.2214+25A= (n.2214+25A=)
n.3587A=
n.3414+25A=
n.3330+25A=
17g.67128627C>TCA2576364055HELZc.3387+24G>A (n.3387+24G>A)
c.3414G>A (p.Leu1138=)
c.3390+24G>A (n.3390+24G>A)
c.3468+24G>A (n.3468+24G>A)
c.3366+24G>A (n.3366+24G>A)
c.3471+24G>A (n.3471+24G>A)
c.2766+24G>A (n.2766+24G>A)
c.2295+24G>A (n.2295+24G>A)
n.3462+24G>A
c.2682+24G>A (n.2682+24G>A)
c.2214+24G>A (n.2214+24G>A)
n.3586G>A
n.3414+24G>A
n.3330+24G>A
17g.67128627dupCA626940595HELZc.3387+24dup (n.3387+24dup)
c.3414dup (p.Lys1139GlufsTer22)
c.3390+24dup (n.3390+24dup)
c.3468+24dup (n.3468+24dup)
c.3366+24dup (n.3366+24dup)
c.3471+24dup (n.3471+24dup)
c.2766+24dup (n.2766+24dup)
c.2295+24dup (n.2295+24dup)
n.3462+24dup
c.2682+24dup (n.2682+24dup)
c.2214+24dup (n.2214+24dup)
n.3586dup
n.3414+24dup
n.3330+24dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.67128629A=CA2271597962HELZc.3387+22T= (n.3387+22T=)
c.3412T= (p.Leu1138=)
c.3390+22T= (n.3390+22T=)
c.3468+22T= (n.3468+22T=)
c.3366+22T= (n.3366+22T=)
c.3471+22T= (n.3471+22T=)
c.2766+22T= (n.2766+22T=)
c.2295+22T= (n.2295+22T=)
n.3462+22T=
c.2682+22T= (n.2682+22T=)
c.2214+22T= (n.2214+22T=)
n.3584T=
n.3414+22T=
n.3330+22T=
17g.67128629A>GCA2271597963HELZc.3387+22T>C (n.3387+22T>C)
c.3412T>C (p.Leu1138=)
c.3390+22T>C (n.3390+22T>C)
c.3468+22T>C (n.3468+22T>C)
c.3366+22T>C (n.3366+22T>C)
c.3471+22T>C (n.3471+22T>C)
c.2766+22T>C (n.2766+22T>C)
c.2295+22T>C (n.2295+22T>C)
n.3462+22T>C
c.2682+22T>C (n.2682+22T>C)
c.2214+22T>C (n.2214+22T>C)
n.3584T>C
n.3414+22T>C
n.3330+22T>C
 dbSNP
17g.67128630T>CCA293205828HELZc.3387+21A>G (n.3387+21A>G)
c.3411A>G (p.Lys1137=)
c.3390+21A>G (n.3390+21A>G)
c.3468+21A>G (n.3468+21A>G)
c.3366+21A>G (n.3366+21A>G)
c.3471+21A>G (n.3471+21A>G)
c.2766+21A>G (n.2766+21A>G)
c.2295+21A>G (n.2295+21A>G)
n.3462+21A>G
c.2682+21A>G (n.2682+21A>G)
c.2214+21A>G (n.2214+21A>G)
n.3583A>G
n.3414+21A>G
n.3330+21A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.67128630T=CA2271597964HELZc.3387+21A= (n.3387+21A=)
c.3411A= (p.Lys1137=)
c.3390+21A= (n.3390+21A=)
c.3468+21A= (n.3468+21A=)
c.3366+21A= (n.3366+21A=)
c.3471+21A= (n.3471+21A=)
c.2766+21A= (n.2766+21A=)
c.2295+21A= (n.2295+21A=)
n.3462+21A=
c.2682+21A= (n.2682+21A=)
c.2214+21A= (n.2214+21A=)
n.3583A=
n.3414+21A=
n.3330+21A=
17g.67128631T>CCA2576364056HELZc.3387+20A>G (n.3387+20A>G)
c.3410A>G (p.Lys1137Arg)
c.3390+20A>G (n.3390+20A>G)
c.3468+20A>G (n.3468+20A>G)
c.3366+20A>G (n.3366+20A>G)
c.3471+20A>G (n.3471+20A>G)
c.2766+20A>G (n.2766+20A>G)
c.2295+20A>G (n.2295+20A>G)
n.3462+20A>G
c.2682+20A>G (n.2682+20A>G)
c.2214+20A>G (n.2214+20A>G)
n.3582A>G
n.3414+20A>G
n.3330+20A>G
17g.67128632T>CCA2639441645HELZc.3387+19A>G (n.3387+19A>G)
c.3409A>G (p.Lys1137Glu)
c.3390+19A>G (n.3390+19A>G)
c.3468+19A>G (n.3468+19A>G)
c.3366+19A>G (n.3366+19A>G)
c.3471+19A>G (n.3471+19A>G)
c.2766+19A>G (n.2766+19A>G)
c.2295+19A>G (n.2295+19A>G)
n.3462+19A>G
c.2682+19A>G (n.2682+19A>G)
c.2214+19A>G (n.2214+19A>G)
n.3581A>G
n.3414+19A>G
n.3330+19A>G
 gnomAD v4
17g.67128633C>TCA2576364057HELZc.3387+18G>A (n.3387+18G>A)
c.3408G>A (p.Met1136Ile)
c.3390+18G>A (n.3390+18G>A)
c.3468+18G>A (n.3468+18G>A)
c.3366+18G>A (n.3366+18G>A)
c.3471+18G>A (n.3471+18G>A)
c.2766+18G>A (n.2766+18G>A)
c.2295+18G>A (n.2295+18G>A)
n.3462+18G>A
c.2682+18G>A (n.2682+18G>A)
c.2214+18G>A (n.2214+18G>A)
n.3580G>A
n.3414+18G>A
n.3330+18G>A
17g.67128635T>ACA8722769HELZc.3387+16A>T (n.3387+16A>T)
c.3406A>T (p.Met1136Leu)
c.3390+16A>T (n.3390+16A>T)
c.3468+16A>T (n.3468+16A>T)
c.3366+16A>T (n.3366+16A>T)
c.3471+16A>T (n.3471+16A>T)
c.2766+16A>T (n.2766+16A>T)
c.2295+16A>T (n.2295+16A>T)
n.3462+16A>T
c.2682+16A>T (n.2682+16A>T)
c.2214+16A>T (n.2214+16A>T)
n.3578A>T
n.3414+16A>T
n.3330+16A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67128635T=CA2271597965HELZc.3387+16A= (n.3387+16A=)
c.3406A= (p.Met1136=)
c.3390+16A= (n.3390+16A=)
c.3468+16A= (n.3468+16A=)
c.3366+16A= (n.3366+16A=)
c.3471+16A= (n.3471+16A=)
c.2766+16A= (n.2766+16A=)
c.2295+16A= (n.2295+16A=)
n.3462+16A=
c.2682+16A= (n.2682+16A=)
c.2214+16A= (n.2214+16A=)
n.3578A=
n.3414+16A=
n.3330+16A=
17g.67128636T=CA2271597966HELZc.3387+15A= (n.3387+15A=)
c.3405A= (p.Leu1135=)
c.3390+15A= (n.3390+15A=)
c.3468+15A= (n.3468+15A=)
c.3366+15A= (n.3366+15A=)
c.3471+15A= (n.3471+15A=)
c.2766+15A= (n.2766+15A=)
c.2295+15A= (n.2295+15A=)
n.3462+15A=
c.2682+15A= (n.2682+15A=)
c.2214+15A= (n.2214+15A=)
n.3577A=
n.3414+15A=
n.3330+15A=
17g.67128636_67128637insTGCA8722770HELZc.3387+14_3387+15insCA (n.3387+14_3387+15insCA)
c.3404_3405insCA (p.Leu1135PhefsTer3)
c.3390+14_3390+15insCA (n.3390+14_3390+15insCA)
c.3468+14_3468+15insCA (n.3468+14_3468+15insCA)
c.3366+14_3366+15insCA (n.3366+14_3366+15insCA)
c.3471+14_3471+15insCA (n.3471+14_3471+15insCA)
c.2766+14_2766+15insCA (n.2766+14_2766+15insCA)
c.2295+14_2295+15insCA (n.2295+14_2295+15insCA)
n.3462+14_3462+15insCA
c.2682+14_2682+15insCA (n.2682+14_2682+15insCA)
c.2214+14_2214+15insCA (n.2214+14_2214+15insCA)
n.3576_3577insCA
n.3414+14_3414+15insCA
n.3330+14_3330+15insCA
 dbSNP ExAC gnomAD v2
17g.67128638A>CCA2576364058HELZc.3387+13T>G (n.3387+13T>G)
c.3403T>G (p.Leu1135Val)
c.3390+13T>G (n.3390+13T>G)
c.3468+13T>G (n.3468+13T>G)
c.3366+13T>G (n.3366+13T>G)
c.3471+13T>G (n.3471+13T>G)
c.2766+13T>G (n.2766+13T>G)
c.2295+13T>G (n.2295+13T>G)
n.3462+13T>G
c.2682+13T>G (n.2682+13T>G)
c.2214+13T>G (n.2214+13T>G)
n.3575T>G
n.3414+13T>G
n.3330+13T>G
17g.67128640A>GCA2639441647HELZc.3387+11T>C (n.3387+11T>C)
c.3401T>C (p.Leu1134Pro)
c.3390+11T>C (n.3390+11T>C)
c.3468+11T>C (n.3468+11T>C)
c.3366+11T>C (n.3366+11T>C)
c.3471+11T>C (n.3471+11T>C)
c.2766+11T>C (n.2766+11T>C)
c.2295+11T>C (n.2295+11T>C)
n.3462+11T>C
c.2682+11T>C (n.2682+11T>C)
c.2214+11T>C (n.2214+11T>C)
n.3573T>C
n.3414+11T>C
n.3330+11T>C
 gnomAD v4
17g.67128642_67128643delCA2639441646HELZc.3387+10_3387+11del (n.3387+10_3387+11del)
c.3400_3401del (p.Leu1134ValfsTer26)
c.3390+10_3390+11del (n.3390+10_3390+11del)
c.3468+10_3468+11del (n.3468+10_3468+11del)
c.3366+10_3366+11del (n.3366+10_3366+11del)
c.3471+10_3471+11del (n.3471+10_3471+11del)
c.2766+10_2766+11del (n.2766+10_2766+11del)
c.2295+10_2295+11del (n.2295+10_2295+11del)
n.3462+10_3462+11del
c.2682+10_2682+11del (n.2682+10_2682+11del)
c.2214+10_2214+11del (n.2214+10_2214+11del)
n.3572_3573del
n.3414+10_3414+11del
n.3330+10_3330+11del
 gnomAD v4
17g.67128641G>ACA2271597968HELZc.3387+10C>T (n.3387+10C>T)
c.3400C>T (p.Leu1134=)
c.3390+10C>T (n.3390+10C>T)
c.3468+10C>T (n.3468+10C>T)
c.3366+10C>T (n.3366+10C>T)
c.3471+10C>T (n.3471+10C>T)
c.2766+10C>T (n.2766+10C>T)
c.2295+10C>T (n.2295+10C>T)
n.3462+10C>T
c.2682+10C>T (n.2682+10C>T)
c.2214+10C>T (n.2214+10C>T)
n.3572C>T
n.3414+10C>T
n.3330+10C>T
 dbSNP
17g.67128641G=CA2271597967HELZc.3387+10C= (n.3387+10C=)
c.3400C= (p.Leu1134=)
c.3390+10C= (n.3390+10C=)
c.3468+10C= (n.3468+10C=)
c.3366+10C= (n.3366+10C=)
c.3471+10C= (n.3471+10C=)
c.2766+10C= (n.2766+10C=)
c.2295+10C= (n.2295+10C=)
n.3462+10C=
c.2682+10C= (n.2682+10C=)
c.2214+10C= (n.2214+10C=)
n.3572C=
n.3414+10C=
n.3330+10C=
17g.67128641_67128645delCA2639441648HELZc.3387+6_3387+10del (n.3387+6_3387+10del)
c.3396_3400del (p.Lys1132AsnfsTer27)
c.3390+6_3390+10del (n.3390+6_3390+10del)
c.3468+6_3468+10del (n.3468+6_3468+10del)
c.3366+6_3366+10del (n.3366+6_3366+10del)
c.3471+6_3471+10del (n.3471+6_3471+10del)
c.2766+6_2766+10del (n.2766+6_2766+10del)
c.2295+6_2295+10del (n.2295+6_2295+10del)
n.3462+6_3462+10del
c.2682+6_2682+10del (n.2682+6_2682+10del)
c.2214+6_2214+10del (n.2214+6_2214+10del)
n.3568_3572del
n.3414+6_3414+10del
n.3330+6_3330+10del
 gnomAD v4
17g.67128644G>ACA2271597970HELZc.3387+7C>T (n.3387+7C>T)
c.3397C>T (p.Pro1133Ser)
c.3390+7C>T (n.3390+7C>T)
c.3468+7C>T (n.3468+7C>T)
c.3366+7C>T (n.3366+7C>T)
c.3471+7C>T (n.3471+7C>T)
c.2766+7C>T (n.2766+7C>T)
c.2295+7C>T (n.2295+7C>T)
n.3462+7C>T
c.2682+7C>T (n.2682+7C>T)
c.2214+7C>T (n.2214+7C>T)
n.3569C>T
n.3414+7C>T
n.3330+7C>T
 dbSNP
17g.67128644G=CA2271597969HELZc.3387+7C= (n.3387+7C=)
c.3397C= (p.Pro1133=)
c.3390+7C= (n.3390+7C=)
c.3468+7C= (n.3468+7C=)
c.3366+7C= (n.3366+7C=)
c.3471+7C= (n.3471+7C=)
c.2766+7C= (n.2766+7C=)
c.2295+7C= (n.2295+7C=)
n.3462+7C=
c.2682+7C= (n.2682+7C=)
c.2214+7C= (n.2214+7C=)
n.3569C=
n.3414+7C=
n.3330+7C=
17g.67128649A>CCA400710838HELZc.3387+2T>G (n.3387+2T>G)
c.3392T>G (p.Val1131Gly)
c.3390+2T>G (n.3390+2T>G)
c.3468+2T>G (n.3468+2T>G)
c.3366+2T>G (n.3366+2T>G)
c.3471+2T>G (n.3471+2T>G)
c.2766+2T>G (n.2766+2T>G)
c.2295+2T>G (n.2295+2T>G)
n.3462+2T>G
c.2682+2T>G (n.2682+2T>G)
c.2214+2T>G (n.2214+2T>G)
n.3564T>G
n.3414+2T>G
n.3330+2T>G
17g.67128649A>GCA400710839HELZc.3387+2T>C (n.3387+2T>C)
c.3392T>C (p.Val1131Ala)
c.3390+2T>C (n.3390+2T>C)
c.3468+2T>C (n.3468+2T>C)
c.3366+2T>C (n.3366+2T>C)
c.3471+2T>C (n.3471+2T>C)
c.2766+2T>C (n.2766+2T>C)
c.2295+2T>C (n.2295+2T>C)
n.3462+2T>C
c.2682+2T>C (n.2682+2T>C)
c.2214+2T>C (n.2214+2T>C)
n.3564T>C
n.3414+2T>C
n.3330+2T>C
17g.67128649A>TCA400710841HELZc.3387+2T>A (n.3387+2T>A)
c.3392T>A (p.Val1131Glu)
c.3390+2T>A (n.3390+2T>A)
c.3468+2T>A (n.3468+2T>A)
c.3366+2T>A (n.3366+2T>A)
c.3471+2T>A (n.3471+2T>A)
c.2766+2T>A (n.2766+2T>A)
c.2295+2T>A (n.2295+2T>A)
n.3462+2T>A
c.2682+2T>A (n.2682+2T>A)
c.2214+2T>A (n.2214+2T>A)
n.3564T>A
n.3414+2T>A
n.3330+2T>A
17g.67128650C>ACA400710847HELZc.3387+1G>T (n.3387+1G>T)
c.3391G>T (p.Val1131Leu)
c.3390+1G>T (n.3390+1G>T)
c.3468+1G>T (n.3468+1G>T)
c.3366+1G>T (n.3366+1G>T)
c.3471+1G>T (n.3471+1G>T)
c.2766+1G>T (n.2766+1G>T)
c.2295+1G>T (n.2295+1G>T)
n.3462+1G>T
c.2682+1G>T (n.2682+1G>T)
c.2214+1G>T (n.2214+1G>T)
n.3563G>T
n.3414+1G>T
n.3330+1G>T
17g.67128650C>GCA400710844HELZc.3387+1G>C (n.3387+1G>C)
c.3391G>C (p.Val1131Leu)
c.3390+1G>C (n.3390+1G>C)
c.3468+1G>C (n.3468+1G>C)
c.3366+1G>C (n.3366+1G>C)
c.3471+1G>C (n.3471+1G>C)
c.2766+1G>C (n.2766+1G>C)
c.2295+1G>C (n.2295+1G>C)
n.3462+1G>C
c.2682+1G>C (n.2682+1G>C)
c.2214+1G>C (n.2214+1G>C)
n.3563G>C
n.3414+1G>C
n.3330+1G>C
17g.67128650C>TCA400710845HELZc.3387+1G>A (n.3387+1G>A)
c.3391G>A (p.Val1131Ile)
c.3390+1G>A (n.3390+1G>A)
c.3468+1G>A (n.3468+1G>A)
c.3366+1G>A (n.3366+1G>A)
c.3471+1G>A (n.3471+1G>A)
c.2766+1G>A (n.2766+1G>A)
c.2295+1G>A (n.2295+1G>A)
n.3462+1G>A
c.2682+1G>A (n.2682+1G>A)
c.2214+1G>A (n.2214+1G>A)
n.3563G>A
n.3414+1G>A
n.3330+1G>A
17g.67128651C>ACA400710849HELZc.3387G>T (p.Lys1129Asn)
c.3390G>T (p.Lys1130Asn)
c.3468G>T (p.Lys1156Asn)
c.3366G>T (p.Lys1122Asn)
c.3471G>T (p.Lys1157Asn)
c.2766G>T (p.Lys922Asn)
c.2295G>T (p.Lys765Asn)
n.3462G>T
c.2682G>T (p.Lys894Asn)
c.2214G>T (p.Lys738Asn)
n.3562G>T
n.3414G>T
n.3330G>T
17g.67128651C>GCA400710857HELZc.3387G>C (p.Lys1129Asn)
c.3390G>C (p.Lys1130Asn)
c.3468G>C (p.Lys1156Asn)
c.3366G>C (p.Lys1122Asn)
c.3471G>C (p.Lys1157Asn)
c.2766G>C (p.Lys922Asn)
c.2295G>C (p.Lys765Asn)
n.3462G>C
c.2682G>C (p.Lys894Asn)
c.2214G>C (p.Lys738Asn)
n.3562G>C
n.3414G>C
n.3330G>C
17g.67128651C>TCA501487488HELZc.3387G>A (p.Lys1129=)
c.3390G>A (p.Lys1130=)
c.3468G>A (p.Lys1156=)
c.3366G>A (p.Lys1122=)
c.3471G>A (p.Lys1157=)
c.2766G>A (p.Lys922=)
c.2295G>A (p.Lys765=)
n.3462G>A
c.2682G>A (p.Lys894=)
c.2214G>A (p.Lys738=)
n.3562G>A
n.3414G>A
n.3330G>A
17g.67128652T>ACA400710858HELZc.3386A>T (p.Lys1129Met)
c.3389A>T (p.Lys1130Met)
c.3467A>T (p.Lys1156Met)
c.3365A>T (p.Lys1122Met)
c.3470A>T (p.Lys1157Met)
c.2765A>T (p.Lys922Met)
c.2294A>T (p.Lys765Met)
n.3461A>T
c.2681A>T (p.Lys894Met)
c.2213A>T (p.Lys738Met)
n.3561A>T
n.3413A>T
n.3329A>T
17g.67128652T>CCA400710860HELZc.3386A>G (p.Lys1129Arg)
c.3389A>G (p.Lys1130Arg)
c.3467A>G (p.Lys1156Arg)
c.3365A>G (p.Lys1122Arg)
c.3470A>G (p.Lys1157Arg)
c.2765A>G (p.Lys922Arg)
c.2294A>G (p.Lys765Arg)
n.3461A>G
c.2681A>G (p.Lys894Arg)
c.2213A>G (p.Lys738Arg)
n.3561A>G
n.3413A>G
n.3329A>G
17g.67128652T>GCA400710862HELZc.3386A>C (p.Lys1129Thr)
c.3389A>C (p.Lys1130Thr)
c.3467A>C (p.Lys1156Thr)
c.3365A>C (p.Lys1122Thr)
c.3470A>C (p.Lys1157Thr)
c.2765A>C (p.Lys922Thr)
c.2294A>C (p.Lys765Thr)
n.3461A>C
c.2681A>C (p.Lys894Thr)
c.2213A>C (p.Lys738Thr)
n.3561A>C
n.3413A>C
n.3329A>C
17g.67128653T>ACA400710864HELZc.3385A>T (p.Lys1129Ter)
c.3388A>T (p.Lys1130Ter)
c.3466A>T (p.Lys1156Ter)
c.3364A>T (p.Lys1122Ter)
c.3469A>T (p.Lys1157Ter)
c.2764A>T (p.Lys922Ter)
c.2293A>T (p.Lys765Ter)
n.3460A>T
c.2680A>T (p.Lys894Ter)
c.2212A>T (p.Lys738Ter)
n.3560A>T
n.3412A>T
n.3328A>T
17g.67128653T>CCA400710866HELZc.3385A>G (p.Lys1129Glu)
c.3388A>G (p.Lys1130Glu)
c.3466A>G (p.Lys1156Glu)
c.3364A>G (p.Lys1122Glu)
c.3469A>G (p.Lys1157Glu)
c.2764A>G (p.Lys922Glu)
c.2293A>G (p.Lys765Glu)
n.3460A>G
c.2680A>G (p.Lys894Glu)
c.2212A>G (p.Lys738Glu)
n.3560A>G
n.3412A>G
n.3328A>G
 gnomAD v4
17g.67128653T>GCA400710867HELZc.3385A>C (p.Lys1129Gln)
c.3388A>C (p.Lys1130Gln)
c.3466A>C (p.Lys1156Gln)
c.3364A>C (p.Lys1122Gln)
c.3469A>C (p.Lys1157Gln)
c.2764A>C (p.Lys922Gln)
c.2293A>C (p.Lys765Gln)
n.3460A>C
c.2680A>C (p.Lys894Gln)
c.2212A>C (p.Lys738Gln)
n.3560A>C
n.3412A>C
n.3328A>C
17g.67128654G>ACA501487489HELZc.3384C>T (p.Pro1128=)
c.3387C>T (p.Pro1129=)
c.3465C>T (p.Pro1155=)
c.3363C>T (p.Pro1121=)
c.3468C>T (p.Pro1156=)
c.2763C>T (p.Pro921=)
c.2292C>T (p.Pro764=)
n.3459C>T
c.2679C>T (p.Pro893=)
c.2211C>T (p.Pro737=)
n.3559C>T
n.3411C>T
n.3327C>T
 gnomAD v4
17g.67128654G>CCA501487490HELZc.3384C>G (p.Pro1128=)
c.3387C>G (p.Pro1129=)
c.3465C>G (p.Pro1155=)
c.3363C>G (p.Pro1121=)
c.3468C>G (p.Pro1156=)
c.2763C>G (p.Pro921=)
c.2292C>G (p.Pro764=)
n.3459C>G
c.2679C>G (p.Pro893=)
c.2211C>G (p.Pro737=)
n.3559C>G
n.3411C>G
n.3327C>G
17g.67128654G>TCA501487491HELZc.3384C>A (p.Pro1128=)
c.3387C>A (p.Pro1129=)
c.3465C>A (p.Pro1155=)
c.3363C>A (p.Pro1121=)
c.3468C>A (p.Pro1156=)
c.2763C>A (p.Pro921=)
c.2292C>A (p.Pro764=)
n.3459C>A
c.2679C>A (p.Pro893=)
c.2211C>A (p.Pro737=)
n.3559C>A
n.3411C>A
n.3327C>A
17g.67128655G>ACA400710869HELZc.3383C>T (p.Pro1128Leu)
c.3386C>T (p.Pro1129Leu)
c.3464C>T (p.Pro1155Leu)
c.3362C>T (p.Pro1121Leu)
c.3467C>T (p.Pro1156Leu)
c.2762C>T (p.Pro921Leu)
c.2291C>T (p.Pro764Leu)
n.3458C>T
c.2678C>T (p.Pro893Leu)
c.2210C>T (p.Pro737Leu)
n.3558C>T
n.3410C>T
n.3326C>T
 gnomAD v4
17g.67128655G>CCA400710870HELZc.3383C>G (p.Pro1128Arg)
c.3386C>G (p.Pro1129Arg)
c.3464C>G (p.Pro1155Arg)
c.3362C>G (p.Pro1121Arg)
c.3467C>G (p.Pro1156Arg)
c.2762C>G (p.Pro921Arg)
c.2291C>G (p.Pro764Arg)
n.3458C>G
c.2678C>G (p.Pro893Arg)
c.2210C>G (p.Pro737Arg)
n.3558C>G
n.3410C>G
n.3326C>G
17g.67128655G=CA2271597971HELZc.3383C= (p.Pro1128=)
c.3386C= (p.Pro1129=)
c.3464C= (p.Pro1155=)
c.3362C= (p.Pro1121=)
c.3467C= (p.Pro1156=)
c.2762C= (p.Pro921=)
c.2291C= (p.Pro764=)
n.3458C=
c.2678C= (p.Pro893=)
c.2210C= (p.Pro737=)
n.3558C=
n.3410C=
n.3326C=
17g.67128655G>TCA400710871HELZc.3383C>A (p.Pro1128His)
c.3386C>A (p.Pro1129His)
c.3464C>A (p.Pro1155His)
c.3362C>A (p.Pro1121His)
c.3467C>A (p.Pro1156His)
c.2762C>A (p.Pro921His)
c.2291C>A (p.Pro764His)
n.3458C>A
c.2678C>A (p.Pro893His)
c.2210C>A (p.Pro737His)
n.3558C>A
n.3410C>A
n.3326C>A
 dbSNP gnomAD v3 gnomAD v4
17g.67128656G>ACA400710877HELZc.3382C>T (p.Pro1128Ser)
c.3385C>T (p.Pro1129Ser)
c.3463C>T (p.Pro1155Ser)
c.3361C>T (p.Pro1121Ser)
c.3466C>T (p.Pro1156Ser)
c.2761C>T (p.Pro921Ser)
c.2290C>T (p.Pro764Ser)
n.3457C>T
c.2677C>T (p.Pro893Ser)
c.2209C>T (p.Pro737Ser)
n.3557C>T
n.3409C>T
n.3325C>T
 COSMIC
17g.67128656G>CCA400710879HELZc.3382C>G (p.Pro1128Ala)
c.3385C>G (p.Pro1129Ala)
c.3463C>G (p.Pro1155Ala)
c.3361C>G (p.Pro1121Ala)
c.3466C>G (p.Pro1156Ala)
c.2761C>G (p.Pro921Ala)
c.2290C>G (p.Pro764Ala)
n.3457C>G
c.2677C>G (p.Pro893Ala)
c.2209C>G (p.Pro737Ala)
n.3557C>G
n.3409C>G
n.3325C>G
17g.67128656G>TCA400710875HELZc.3382C>A (p.Pro1128Thr)
c.3385C>A (p.Pro1129Thr)
c.3463C>A (p.Pro1155Thr)
c.3361C>A (p.Pro1121Thr)
c.3466C>A (p.Pro1156Thr)
c.2761C>A (p.Pro921Thr)
c.2290C>A (p.Pro764Thr)
n.3457C>A
c.2677C>A (p.Pro893Thr)
c.2209C>A (p.Pro737Thr)
n.3557C>A
n.3409C>A
n.3325C>A
17g.67128657T>ACA501487492HELZc.3381A>T (p.Pro1127=)
c.3384A>T (p.Pro1128=)
c.3462A>T (p.Pro1154=)
c.3360A>T (p.Pro1120=)
c.3465A>T (p.Pro1155=)
c.2760A>T (p.Pro920=)
c.2289A>T (p.Pro763=)
n.3456A>T
c.2676A>T (p.Pro892=)
c.2208A>T (p.Pro736=)
n.3556A>T
n.3408A>T
n.3324A>T
17g.67128657T>CCA501487493HELZc.3381A>G (p.Pro1127=)
c.3384A>G (p.Pro1128=)
c.3462A>G (p.Pro1154=)
c.3360A>G (p.Pro1120=)
c.3465A>G (p.Pro1155=)
c.2760A>G (p.Pro920=)
c.2289A>G (p.Pro763=)
n.3456A>G
c.2676A>G (p.Pro892=)
c.2208A>G (p.Pro736=)
n.3556A>G
n.3408A>G
n.3324A>G
 dbSNP gnomAD v4
17g.67128657T>GCA501487494HELZc.3381A>C (p.Pro1127=)
c.3384A>C (p.Pro1128=)
c.3462A>C (p.Pro1154=)
c.3360A>C (p.Pro1120=)
c.3465A>C (p.Pro1155=)
c.2760A>C (p.Pro920=)
c.2289A>C (p.Pro763=)
n.3456A>C
c.2676A>C (p.Pro892=)
c.2208A>C (p.Pro736=)
n.3556A>C
n.3408A>C
n.3324A>C
 gnomAD v4
17g.67128657T=CA2271597972HELZc.3381A= (p.Pro1127=)
c.3384A= (p.Pro1128=)
c.3462A= (p.Pro1154=)
c.3360A= (p.Pro1120=)
c.3465A= (p.Pro1155=)
c.2760A= (p.Pro920=)
c.2289A= (p.Pro763=)
n.3456A=
c.2676A= (p.Pro892=)
c.2208A= (p.Pro736=)
n.3556A=
n.3408A=
n.3324A=
17g.67128658G>ACA293205834HELZc.3380C>T (p.Pro1127Leu)
c.3383C>T (p.Pro1128Leu)
c.3461C>T (p.Pro1154Leu)
c.3359C>T (p.Pro1120Leu)
c.3464C>T (p.Pro1155Leu)
c.2759C>T (p.Pro920Leu)
c.2288C>T (p.Pro763Leu)
n.3455C>T
c.2675C>T (p.Pro892Leu)
c.2207C>T (p.Pro736Leu)
n.3555C>T
n.3407C>T
n.3323C>T
 dbSNP gnomAD v4
17g.67128658G>CCA400710881HELZc.3380C>G (p.Pro1127Arg)
c.3383C>G (p.Pro1128Arg)
c.3461C>G (p.Pro1154Arg)
c.3359C>G (p.Pro1120Arg)
c.3464C>G (p.Pro1155Arg)
c.2759C>G (p.Pro920Arg)
c.2288C>G (p.Pro763Arg)
n.3455C>G
c.2675C>G (p.Pro892Arg)
c.2207C>G (p.Pro736Arg)
n.3555C>G
n.3407C>G
n.3323C>G
17g.67128658G=CA2271597973HELZc.3380C= (p.Pro1127=)
c.3383C= (p.Pro1128=)
c.3461C= (p.Pro1154=)
c.3359C= (p.Pro1120=)
c.3464C= (p.Pro1155=)
c.2759C= (p.Pro920=)
c.2288C= (p.Pro763=)
n.3455C=
c.2675C= (p.Pro892=)
c.2207C= (p.Pro736=)
n.3555C=
n.3407C=
n.3323C=
17g.67128658G>TCA400710882HELZc.3380C>A (p.Pro1127Gln)
c.3383C>A (p.Pro1128Gln)
c.3461C>A (p.Pro1154Gln)
c.3359C>A (p.Pro1120Gln)
c.3464C>A (p.Pro1155Gln)
c.2759C>A (p.Pro920Gln)
c.2288C>A (p.Pro763Gln)
n.3455C>A
c.2675C>A (p.Pro892Gln)
c.2207C>A (p.Pro736Gln)
n.3555C>A
n.3407C>A
n.3323C>A
17g.67128659G>ACA8722771HELZc.3379C>T (p.Pro1127Ser)
c.3382C>T (p.Pro1128Ser)
c.3460C>T (p.Pro1154Ser)
c.3358C>T (p.Pro1120Ser)
c.3463C>T (p.Pro1155Ser)
c.2758C>T (p.Pro920Ser)
c.2287C>T (p.Pro763Ser)
n.3454C>T
c.2674C>T (p.Pro892Ser)
c.2206C>T (p.Pro736Ser)
n.3554C>T
n.3406C>T
n.3322C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67128659G>CCA400710885HELZc.3379C>G (p.Pro1127Ala)
c.3382C>G (p.Pro1128Ala)
c.3460C>G (p.Pro1154Ala)
c.3358C>G (p.Pro1120Ala)
c.3463C>G (p.Pro1155Ala)
c.2758C>G (p.Pro920Ala)
c.2287C>G (p.Pro763Ala)
n.3454C>G
c.2674C>G (p.Pro892Ala)
c.2206C>G (p.Pro736Ala)
n.3554C>G
n.3406C>G
n.3322C>G
 dbSNP
17g.67128659G=CA2271597974HELZc.3379C= (p.Pro1127=)
c.3382C= (p.Pro1128=)
c.3460C= (p.Pro1154=)
c.3358C= (p.Pro1120=)
c.3463C= (p.Pro1155=)
c.2758C= (p.Pro920=)
c.2287C= (p.Pro763=)
n.3454C=
c.2674C= (p.Pro892=)
c.2206C= (p.Pro736=)
n.3554C=
n.3406C=
n.3322C=
17g.67128659G>TCA400710887HELZc.3379C>A (p.Pro1127Thr)
c.3382C>A (p.Pro1128Thr)
c.3460C>A (p.Pro1154Thr)
c.3358C>A (p.Pro1120Thr)
c.3463C>A (p.Pro1155Thr)
c.2758C>A (p.Pro920Thr)
c.2287C>A (p.Pro763Thr)
n.3454C>A
c.2674C>A (p.Pro892Thr)
c.2206C>A (p.Pro736Thr)
n.3554C>A
n.3406C>A
n.3322C>A
17g.67128660T>ACA501487495HELZc.3378A>T (p.Ser1126=)
c.3381A>T (p.Ser1127=)
c.3459A>T (p.Ser1153=)
c.3357A>T (p.Ser1119=)
c.3462A>T (p.Ser1154=)
c.2757A>T (p.Ser919=)
c.2286A>T (p.Ser762=)
n.3453A>T
c.2673A>T (p.Ser891=)
c.2205A>T (p.Ser735=)
n.3553A>T
n.3405A>T
n.3321A>T
17g.67128660T>CCA501487497HELZc.3378A>G (p.Ser1126=)
c.3381A>G (p.Ser1127=)
c.3459A>G (p.Ser1153=)
c.3357A>G (p.Ser1119=)
c.3462A>G (p.Ser1154=)
c.2757A>G (p.Ser919=)
c.2286A>G (p.Ser762=)
n.3453A>G
c.2673A>G (p.Ser891=)
c.2205A>G (p.Ser735=)
n.3553A>G
n.3405A>G
n.3321A>G
17g.67128660T>GCA501487496HELZc.3378A>C (p.Ser1126=)
c.3381A>C (p.Ser1127=)
c.3459A>C (p.Ser1153=)
c.3357A>C (p.Ser1119=)
c.3462A>C (p.Ser1154=)
c.2757A>C (p.Ser919=)
c.2286A>C (p.Ser762=)
n.3453A>C
c.2673A>C (p.Ser891=)
c.2205A>C (p.Ser735=)
n.3553A>C
n.3405A>C
n.3321A>C
17g.67128661G>ACA400710893HELZc.3377C>T (p.Ser1126Leu)
c.3380C>T (p.Ser1127Leu)
c.3458C>T (p.Ser1153Leu)
c.3356C>T (p.Ser1119Leu)
c.3461C>T (p.Ser1154Leu)
c.2756C>T (p.Ser919Leu)
c.2285C>T (p.Ser762Leu)
n.3452C>T
c.2672C>T (p.Ser891Leu)
c.2204C>T (p.Ser735Leu)
n.3552C>T
n.3404C>T
n.3320C>T
17g.67128661G>CCA400710889HELZc.3377C>G (p.Ser1126Ter)
c.3380C>G (p.Ser1127Ter)
c.3458C>G (p.Ser1153Ter)
c.3356C>G (p.Ser1119Ter)
c.3461C>G (p.Ser1154Ter)
c.2756C>G (p.Ser919Ter)
c.2285C>G (p.Ser762Ter)
n.3452C>G
c.2672C>G (p.Ser891Ter)
c.2204C>G (p.Ser735Ter)
n.3552C>G
n.3404C>G
n.3320C>G
17g.67128661G>TCA400710891HELZc.3377C>A (p.Ser1126Ter)
c.3380C>A (p.Ser1127Ter)
c.3458C>A (p.Ser1153Ter)
c.3356C>A (p.Ser1119Ter)
c.3461C>A (p.Ser1154Ter)
c.2756C>A (p.Ser919Ter)
c.2285C>A (p.Ser762Ter)
n.3452C>A
c.2672C>A (p.Ser891Ter)
c.2204C>A (p.Ser735Ter)
n.3552C>A
n.3404C>A
n.3320C>A
17g.67128662A>CCA400710896HELZc.3376T>G (p.Ser1126Ala)
c.3379T>G (p.Ser1127Ala)
c.3457T>G (p.Ser1153Ala)
c.3355T>G (p.Ser1119Ala)
c.3460T>G (p.Ser1154Ala)
c.2755T>G (p.Ser919Ala)
c.2284T>G (p.Ser762Ala)
n.3451T>G
c.2671T>G (p.Ser891Ala)
c.2203T>G (p.Ser735Ala)
n.3551T>G
n.3403T>G
n.3319T>G
17g.67128662A>GCA400710897HELZc.3376T>C (p.Ser1126Pro)
c.3379T>C (p.Ser1127Pro)
c.3457T>C (p.Ser1153Pro)
c.3355T>C (p.Ser1119Pro)
c.3460T>C (p.Ser1154Pro)
c.2755T>C (p.Ser919Pro)
c.2284T>C (p.Ser762Pro)
n.3451T>C
c.2671T>C (p.Ser891Pro)
c.2203T>C (p.Ser735Pro)
n.3551T>C
n.3403T>C
n.3319T>C
17g.67128662A>TCA400710899HELZc.3376T>A (p.Ser1126Thr)
c.3379T>A (p.Ser1127Thr)
c.3457T>A (p.Ser1153Thr)
c.3355T>A (p.Ser1119Thr)
c.3460T>A (p.Ser1154Thr)
c.2755T>A (p.Ser919Thr)
c.2284T>A (p.Ser762Thr)
n.3451T>A
c.2671T>A (p.Ser891Thr)
c.2203T>A (p.Ser735Thr)
n.3551T>A
n.3403T>A
n.3319T>A
 gnomAD v4
17g.67128663T>ACA400710901HELZc.3375A>T (p.Gln1125His)
c.3378A>T (p.Gln1126His)
c.3456A>T (p.Gln1152His)
c.3354A>T (p.Gln1118His)
c.3459A>T (p.Gln1153His)
c.2754A>T (p.Gln918His)
c.2283A>T (p.Gln761His)
n.3450A>T
c.2670A>T (p.Gln890His)
c.2202A>T (p.Gln734His)
n.3550A>T
n.3402A>T
n.3318A>T
17g.67128663T>CCA501487499HELZc.3375A>G (p.Gln1125=)
c.3378A>G (p.Gln1126=)
c.3456A>G (p.Gln1152=)
c.3354A>G (p.Gln1118=)
c.3459A>G (p.Gln1153=)
c.2754A>G (p.Gln918=)
c.2283A>G (p.Gln761=)
n.3450A>G
c.2670A>G (p.Gln890=)
c.2202A>G (p.Gln734=)
n.3550A>G
n.3402A>G
n.3318A>G
 gnomAD v4
17g.67128663T>GCA400710902HELZc.3375A>C (p.Gln1125His)
c.3378A>C (p.Gln1126His)
c.3456A>C (p.Gln1152His)
c.3354A>C (p.Gln1118His)
c.3459A>C (p.Gln1153His)
c.2754A>C (p.Gln918His)
c.2283A>C (p.Gln761His)
n.3450A>C
c.2670A>C (p.Gln890His)
c.2202A>C (p.Gln734His)
n.3550A>C
n.3402A>C
n.3318A>C
17g.67128664T>ACA400710904HELZc.3374A>T (p.Gln1125Leu)
c.3377A>T (p.Gln1126Leu)
c.3455A>T (p.Gln1152Leu)
c.3353A>T (p.Gln1118Leu)
c.3458A>T (p.Gln1153Leu)
c.2753A>T (p.Gln918Leu)
c.2282A>T (p.Gln761Leu)
n.3449A>T
c.2669A>T (p.Gln890Leu)
c.2201A>T (p.Gln734Leu)
n.3549A>T
n.3401A>T
n.3317A>T
17g.67128664T>CCA400710908HELZc.3374A>G (p.Gln1125Arg)
c.3377A>G (p.Gln1126Arg)
c.3455A>G (p.Gln1152Arg)
c.3353A>G (p.Gln1118Arg)
c.3458A>G (p.Gln1153Arg)
c.2753A>G (p.Gln918Arg)
c.2282A>G (p.Gln761Arg)
n.3449A>G
c.2669A>G (p.Gln890Arg)
c.2201A>G (p.Gln734Arg)
n.3549A>G
n.3401A>G
n.3317A>G
17g.67128664T>GCA400710906HELZc.3374A>C (p.Gln1125Pro)
c.3377A>C (p.Gln1126Pro)
c.3455A>C (p.Gln1152Pro)
c.3353A>C (p.Gln1118Pro)
c.3458A>C (p.Gln1153Pro)
c.2753A>C (p.Gln918Pro)
c.2282A>C (p.Gln761Pro)
n.3449A>C
c.2669A>C (p.Gln890Pro)
c.2201A>C (p.Gln734Pro)
n.3549A>C
n.3401A>C
n.3317A>C
17g.67128665G>ACA400710911HELZc.3373C>T (p.Gln1125Ter)
c.3376C>T (p.Gln1126Ter)
c.3454C>T (p.Gln1152Ter)
c.3352C>T (p.Gln1118Ter)
c.3457C>T (p.Gln1153Ter)
c.2752C>T (p.Gln918Ter)
c.2281C>T (p.Gln761Ter)
n.3448C>T
c.2668C>T (p.Gln890Ter)
c.2200C>T (p.Gln734Ter)
n.3548C>T
n.3400C>T
n.3316C>T
17g.67128665G>CCA400710913HELZc.3373C>G (p.Gln1125Glu)
c.3376C>G (p.Gln1126Glu)
c.3454C>G (p.Gln1152Glu)
c.3352C>G (p.Gln1118Glu)
c.3457C>G (p.Gln1153Glu)
c.2752C>G (p.Gln918Glu)
c.2281C>G (p.Gln761Glu)
n.3448C>G
c.2668C>G (p.Gln890Glu)
c.2200C>G (p.Gln734Glu)
n.3548C>G
n.3400C>G
n.3316C>G
17g.67128665G>TCA400710914HELZc.3373C>A (p.Gln1125Lys)
c.3376C>A (p.Gln1126Lys)
c.3454C>A (p.Gln1152Lys)
c.3352C>A (p.Gln1118Lys)
c.3457C>A (p.Gln1153Lys)
c.2752C>A (p.Gln918Lys)
c.2281C>A (p.Gln761Lys)
n.3448C>A
c.2668C>A (p.Gln890Lys)
c.2200C>A (p.Gln734Lys)
n.3548C>A
n.3400C>A
n.3316C>A
17g.67128666C>ACA400710917HELZc.3372G>T (p.Gln1124His)
c.3375G>T (p.Gln1125His)
c.3453G>T (p.Gln1151His)
c.3351G>T (p.Gln1117His)
c.3456G>T (p.Gln1152His)
c.2751G>T (p.Gln917His)
c.2280G>T (p.Gln760His)
n.3447G>T
c.2667G>T (p.Gln889His)
c.2199G>T (p.Gln733His)
n.3547G>T
n.3399G>T
n.3315G>T
17g.67128666C=CA2271597975HELZc.3372G= (p.Gln1124=)
c.3375G= (p.Gln1125=)
c.3453G= (p.Gln1151=)
c.3351G= (p.Gln1117=)
c.3456G= (p.Gln1152=)
c.2751G= (p.Gln917=)
c.2280G= (p.Gln760=)
n.3447G=
c.2667G= (p.Gln889=)
c.2199G= (p.Gln733=)
n.3547G=
n.3399G=
n.3315G=
17g.67128666C>GCA400710919HELZc.3372G>C (p.Gln1124His)
c.3375G>C (p.Gln1125His)
c.3453G>C (p.Gln1151His)
c.3351G>C (p.Gln1117His)
c.3456G>C (p.Gln1152His)
c.2751G>C (p.Gln917His)
c.2280G>C (p.Gln760His)
n.3447G>C
c.2667G>C (p.Gln889His)
c.2199G>C (p.Gln733His)
n.3547G>C
n.3399G>C
n.3315G>C
17g.67128666C>TCA8722772HELZc.3372G>A (p.Gln1124=)
c.3375G>A (p.Gln1125=)
c.3453G>A (p.Gln1151=)
c.3351G>A (p.Gln1117=)
c.3456G>A (p.Gln1152=)
c.2751G>A (p.Gln917=)
c.2280G>A (p.Gln760=)
n.3447G>A
c.2667G>A (p.Gln889=)
c.2199G>A (p.Gln733=)
n.3547G>A
n.3399G>A
n.3315G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.67128667T>ACA400710921HELZc.3371A>T (p.Gln1124Leu)
c.3374A>T (p.Gln1125Leu)
c.3452A>T (p.Gln1151Leu)
c.3350A>T (p.Gln1117Leu)
c.3455A>T (p.Gln1152Leu)
c.2750A>T (p.Gln917Leu)
c.2279A>T (p.Gln760Leu)
n.3446A>T
c.2666A>T (p.Gln889Leu)
c.2198A>T (p.Gln733Leu)
n.3546A>T
n.3398A>T
n.3314A>T
17g.67128667T>CCA400710922HELZc.3371A>G (p.Gln1124Arg)
c.3374A>G (p.Gln1125Arg)
c.3452A>G (p.Gln1151Arg)
c.3350A>G (p.Gln1117Arg)
c.3455A>G (p.Gln1152Arg)
c.2750A>G (p.Gln917Arg)
c.2279A>G (p.Gln760Arg)
n.3446A>G
c.2666A>G (p.Gln889Arg)
c.2198A>G (p.Gln733Arg)
n.3546A>G
n.3398A>G
n.3314A>G
17g.67128667T>GCA400710924HELZc.3371A>C (p.Gln1124Pro)
c.3374A>C (p.Gln1125Pro)
c.3452A>C (p.Gln1151Pro)
c.3350A>C (p.Gln1117Pro)
c.3455A>C (p.Gln1152Pro)
c.2750A>C (p.Gln917Pro)
c.2279A>C (p.Gln760Pro)
n.3446A>C
c.2666A>C (p.Gln889Pro)
c.2198A>C (p.Gln733Pro)
n.3546A>C
n.3398A>C
n.3314A>C
17g.67128668G>ACA400710926HELZc.3370C>T (p.Gln1124Ter)
c.3373C>T (p.Gln1125Ter)
c.3451C>T (p.Gln1151Ter)
c.3349C>T (p.Gln1117Ter)
c.3454C>T (p.Gln1152Ter)
c.2749C>T (p.Gln917Ter)
c.2278C>T (p.Gln760Ter)
n.3445C>T
c.2665C>T (p.Gln889Ter)
c.2197C>T (p.Gln733Ter)
n.3545C>T
n.3397C>T
n.3313C>T
17g.67128668G>CCA293205838HELZc.3370C>G (p.Gln1124Glu)
c.3373C>G (p.Gln1125Glu)
c.3451C>G (p.Gln1151Glu)
c.3349C>G (p.Gln1117Glu)
c.3454C>G (p.Gln1152Glu)
c.2749C>G (p.Gln917Glu)
c.2278C>G (p.Gln760Glu)
n.3445C>G
c.2665C>G (p.Gln889Glu)
c.2197C>G (p.Gln733Glu)
n.3545C>G
n.3397C>G
n.3313C>G
 dbSNP gnomAD v3 gnomAD v4
17g.67128668G=CA2271597976HELZc.3370C= (p.Gln1124=)
c.3373C= (p.Gln1125=)
c.3451C= (p.Gln1151=)
c.3349C= (p.Gln1117=)
c.3454C= (p.Gln1152=)
c.2749C= (p.Gln917=)
c.2278C= (p.Gln760=)
n.3445C=
c.2665C= (p.Gln889=)
c.2197C= (p.Gln733=)
n.3545C=
n.3397C=
n.3313C=
17g.67128668G>TCA400710929HELZc.3370C>A (p.Gln1124Lys)
c.3373C>A (p.Gln1125Lys)
c.3451C>A (p.Gln1151Lys)
c.3349C>A (p.Gln1117Lys)
c.3454C>A (p.Gln1152Lys)
c.2749C>A (p.Gln917Lys)
c.2278C>A (p.Gln760Lys)
n.3445C>A
c.2665C>A (p.Gln889Lys)
c.2197C>A (p.Gln733Lys)
n.3545C>A
n.3397C>A
n.3313C>A
17g.67128669C>ACA400710931HELZc.3369G>T (p.Gln1123His)
c.3372G>T (p.Gln1124His)
c.3450G>T (p.Gln1150His)
c.3348G>T (p.Gln1116His)
c.3453G>T (p.Gln1151His)
c.2748G>T (p.Gln916His)
c.2277G>T (p.Gln759His)
n.3444G>T
c.2664G>T (p.Gln888His)
c.2196G>T (p.Gln732His)
n.3544G>T
n.3396G>T
n.3312G>T
17g.67128669C>GCA400710932HELZc.3369G>C (p.Gln1123His)
c.3372G>C (p.Gln1124His)
c.3450G>C (p.Gln1150His)
c.3348G>C (p.Gln1116His)
c.3453G>C (p.Gln1151His)
c.2748G>C (p.Gln916His)
c.2277G>C (p.Gln759His)
n.3444G>C
c.2664G>C (p.Gln888His)
c.2196G>C (p.Gln732His)
n.3544G>C
n.3396G>C
n.3312G>C
 gnomAD v4
17g.67128669C>TCA501487548HELZc.3369G>A (p.Gln1123=)
c.3372G>A (p.Gln1124=)
c.3450G>A (p.Gln1150=)
c.3348G>A (p.Gln1116=)
c.3453G>A (p.Gln1151=)
c.2748G>A (p.Gln916=)
c.2277G>A (p.Gln759=)
n.3444G>A
c.2664G>A (p.Gln888=)
c.2196G>A (p.Gln732=)
n.3544G>A
n.3396G>A
n.3312G>A
17g.67128670T>ACA400710934HELZc.3368A>T (p.Gln1123Leu)
c.3371A>T (p.Gln1124Leu)
c.3449A>T (p.Gln1150Leu)
c.3347A>T (p.Gln1116Leu)
c.3452A>T (p.Gln1151Leu)
c.2747A>T (p.Gln916Leu)
c.2276A>T (p.Gln759Leu)
n.3443A>T
c.2663A>T (p.Gln888Leu)
c.2195A>T (p.Gln732Leu)
n.3543A>T
n.3395A>T
n.3311A>T
17g.67128670T>CCA400710936HELZc.3368A>G (p.Gln1123Arg)
c.3371A>G (p.Gln1124Arg)
c.3449A>G (p.Gln1150Arg)
c.3347A>G (p.Gln1116Arg)
c.3452A>G (p.Gln1151Arg)
c.2747A>G (p.Gln916Arg)
c.2276A>G (p.Gln759Arg)
n.3443A>G
c.2663A>G (p.Gln888Arg)
c.2195A>G (p.Gln732Arg)
n.3543A>G
n.3395A>G
n.3311A>G
 gnomAD v4
17g.67128670T>GCA400710938HELZc.3368A>C (p.Gln1123Pro)
c.3371A>C (p.Gln1124Pro)
c.3449A>C (p.Gln1150Pro)
c.3347A>C (p.Gln1116Pro)
c.3452A>C (p.Gln1151Pro)
c.2747A>C (p.Gln916Pro)
c.2276A>C (p.Gln759Pro)
n.3443A>C
c.2663A>C (p.Gln888Pro)
c.2195A>C (p.Gln732Pro)
n.3543A>C
n.3395A>C
n.3311A>C
17g.67128671G>ACA400710939HELZc.3367C>T (p.Gln1123Ter)
c.3370C>T (p.Gln1124Ter)
c.3448C>T (p.Gln1150Ter)
c.3346C>T (p.Gln1116Ter)
c.3451C>T (p.Gln1151Ter)
c.2746C>T (p.Gln916Ter)
c.2275C>T (p.Gln759Ter)
n.3442C>T
c.2662C>T (p.Gln888Ter)
c.2194C>T (p.Gln732Ter)
n.3542C>T
n.3394C>T
n.3310C>T
17g.67128671G>CCA400710940HELZc.3367C>G (p.Gln1123Glu)
c.3370C>G (p.Gln1124Glu)
c.3448C>G (p.Gln1150Glu)
c.3346C>G (p.Gln1116Glu)
c.3451C>G (p.Gln1151Glu)
c.2746C>G (p.Gln916Glu)
c.2275C>G (p.Gln759Glu)
n.3442C>G
c.2662C>G (p.Gln888Glu)
c.2194C>G (p.Gln732Glu)
n.3542C>G
n.3394C>G
n.3310C>G
 gnomAD v4
17g.67128671G>TCA400710942HELZc.3367C>A (p.Gln1123Lys)
c.3370C>A (p.Gln1124Lys)
c.3448C>A (p.Gln1150Lys)
c.3346C>A (p.Gln1116Lys)
c.3451C>A (p.Gln1151Lys)
c.2746C>A (p.Gln916Lys)
c.2275C>A (p.Gln759Lys)
n.3442C>A
c.2662C>A (p.Gln888Lys)
c.2194C>A (p.Gln732Lys)
n.3542C>A
n.3394C>A
n.3310C>A
 COSMIC
17g.67128672T>ACA400710945HELZc.3366A>T (p.Lys1122Asn)
c.3369A>T (p.Lys1123Asn)
c.3447A>T (p.Lys1149Asn)
c.3345A>T (p.Lys1115Asn)
c.3450A>T (p.Lys1150Asn)
c.2745A>T (p.Lys915Asn)
c.2274A>T (p.Lys758Asn)
n.3441A>T
c.2661A>T (p.Lys887Asn)
c.2193A>T (p.Lys731Asn)
n.3541A>T
n.3393A>T
n.3309A>T
17g.67128672T>CCA501487552HELZc.3366A>G (p.Lys1122=)
c.3369A>G (p.Lys1123=)
c.3447A>G (p.Lys1149=)
c.3345A>G (p.Lys1115=)
c.3450A>G (p.Lys1150=)
c.2745A>G (p.Lys915=)
c.2274A>G (p.Lys758=)
n.3441A>G
c.2661A>G (p.Lys887=)
c.2193A>G (p.Lys731=)
n.3541A>G
n.3393A>G
n.3309A>G
17g.67128672T>GCA400710946HELZc.3366A>C (p.Lys1122Asn)
c.3369A>C (p.Lys1123Asn)
c.3447A>C (p.Lys1149Asn)
c.3345A>C (p.Lys1115Asn)
c.3450A>C (p.Lys1150Asn)
c.2745A>C (p.Lys915Asn)
c.2274A>C (p.Lys758Asn)
n.3441A>C
c.2661A>C (p.Lys887Asn)
c.2193A>C (p.Lys731Asn)
n.3541A>C
n.3393A>C
n.3309A>C
17g.67128673T>ACA400710948HELZc.3365A>T (p.Lys1122Ile)
c.3368A>T (p.Lys1123Ile)
c.3446A>T (p.Lys1149Ile)
c.3344A>T (p.Lys1115Ile)
c.3449A>T (p.Lys1150Ile)
c.2744A>T (p.Lys915Ile)
c.2273A>T (p.Lys758Ile)
n.3440A>T
c.2660A>T (p.Lys887Ile)
c.2192A>T (p.Lys731Ile)
n.3540A>T
n.3392A>T
n.3308A>T
17g.67128673T>CCA8722773HELZc.3365A>G (p.Lys1122Arg)
c.3368A>G (p.Lys1123Arg)
c.3446A>G (p.Lys1149Arg)
c.3344A>G (p.Lys1115Arg)
c.3449A>G (p.Lys1150Arg)
c.2744A>G (p.Lys915Arg)
c.2273A>G (p.Lys758Arg)
n.3440A>G
c.2660A>G (p.Lys887Arg)
c.2192A>G (p.Lys731Arg)
n.3540A>G
n.3392A>G
n.3308A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67128673T>GCA400710951HELZc.3365A>C (p.Lys1122Thr)
c.3368A>C (p.Lys1123Thr)
c.3446A>C (p.Lys1149Thr)
c.3344A>C (p.Lys1115Thr)
c.3449A>C (p.Lys1150Thr)
c.2744A>C (p.Lys915Thr)
c.2273A>C (p.Lys758Thr)
n.3440A>C
c.2660A>C (p.Lys887Thr)
c.2192A>C (p.Lys731Thr)
n.3540A>C
n.3392A>C
n.3308A>C
17g.67128673T=CA2271597977HELZc.3365A= (p.Lys1122=)
c.3368A= (p.Lys1123=)
c.3446A= (p.Lys1149=)
c.3344A= (p.Lys1115=)
c.3449A= (p.Lys1150=)
c.2744A= (p.Lys915=)
c.2273A= (p.Lys758=)
n.3440A=
c.2660A= (p.Lys887=)
c.2192A= (p.Lys731=)
n.3540A=
n.3392A=
n.3308A=
17g.67128674T>ACA400710953HELZc.3364A>T (p.Lys1122Ter)
c.3367A>T (p.Lys1123Ter)
c.3445A>T (p.Lys1149Ter)
c.3343A>T (p.Lys1115Ter)
c.3448A>T (p.Lys1150Ter)
c.2743A>T (p.Lys915Ter)
c.2272A>T (p.Lys758Ter)
n.3439A>T
c.2659A>T (p.Lys887Ter)
c.2191A>T (p.Lys731Ter)
n.3539A>T
n.3391A>T
n.3307A>T
17g.67128674T>CCA400710955HELZc.3364A>G (p.Lys1122Glu)
c.3367A>G (p.Lys1123Glu)
c.3445A>G (p.Lys1149Glu)
c.3343A>G (p.Lys1115Glu)
c.3448A>G (p.Lys1150Glu)
c.2743A>G (p.Lys915Glu)
c.2272A>G (p.Lys758Glu)
n.3439A>G
c.2659A>G (p.Lys887Glu)
c.2191A>G (p.Lys731Glu)
n.3539A>G
n.3391A>G
n.3307A>G
 dbSNP gnomAD v4
17g.67128674T>GCA8722774HELZc.3364A>C (p.Lys1122Gln)
c.3367A>C (p.Lys1123Gln)
c.3445A>C (p.Lys1149Gln)
c.3343A>C (p.Lys1115Gln)
c.3448A>C (p.Lys1150Gln)
c.2743A>C (p.Lys915Gln)
c.2272A>C (p.Lys758Gln)
n.3439A>C
c.2659A>C (p.Lys887Gln)
c.2191A>C (p.Lys731Gln)
n.3539A>C
n.3391A>C
n.3307A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.67128674T=CA2271597978HELZc.3364A= (p.Lys1122=)
c.3367A= (p.Lys1123=)
c.3445A= (p.Lys1149=)
c.3343A= (p.Lys1115=)
c.3448A= (p.Lys1150=)
c.2743A= (p.Lys915=)
c.2272A= (p.Lys758=)
n.3439A=
c.2659A= (p.Lys887=)
c.2191A= (p.Lys731=)
n.3539A=
n.3391A=
n.3307A=
17g.67128675G>ACA501487555HELZc.3363C>T (p.Asn1121=)
c.3366C>T (p.Asn1122=)
c.3444C>T (p.Asn1148=)
c.3342C>T (p.Asn1114=)
c.3447C>T (p.Asn1149=)
c.2742C>T (p.Asn914=)
c.2271C>T (p.Asn757=)
n.3438C>T
c.2658C>T (p.Asn886=)
c.2190C>T (p.Asn730=)
n.3538C>T
n.3390C>T
n.3306C>T
17g.67128675G>CCA400710959HELZc.3363C>G (p.Asn1121Lys)
c.3366C>G (p.Asn1122Lys)
c.3444C>G (p.Asn1148Lys)
c.3342C>G (p.Asn1114Lys)
c.3447C>G (p.Asn1149Lys)
c.2742C>G (p.Asn914Lys)
c.2271C>G (p.Asn757Lys)
n.3438C>G
c.2658C>G (p.Asn886Lys)
c.2190C>G (p.Asn730Lys)
n.3538C>G
n.3390C>G
n.3306C>G
17g.67128675G>TCA400710958HELZc.3363C>A (p.Asn1121Lys)
c.3366C>A (p.Asn1122Lys)
c.3444C>A (p.Asn1148Lys)
c.3342C>A (p.Asn1114Lys)
c.3447C>A (p.Asn1149Lys)
c.2742C>A (p.Asn914Lys)
c.2271C>A (p.Asn757Lys)
n.3438C>A
c.2658C>A (p.Asn886Lys)
c.2190C>A (p.Asn730Lys)
n.3538C>A
n.3390C>A
n.3306C>A
 gnomAD v4
17g.67128676T>ACA400710962HELZc.3362A>T (p.Asn1121Ile)
c.3365A>T (p.Asn1122Ile)
c.3443A>T (p.Asn1148Ile)
c.3341A>T (p.Asn1114Ile)
c.3446A>T (p.Asn1149Ile)
c.2741A>T (p.Asn914Ile)
c.2270A>T (p.Asn757Ile)
n.3437A>T
c.2657A>T (p.Asn886Ile)
c.2189A>T (p.Asn730Ile)
n.3537A>T
n.3389A>T
n.3305A>T
17g.67128676T>CCA400710963HELZc.3362A>G (p.Asn1121Ser)
c.3365A>G (p.Asn1122Ser)
c.3443A>G (p.Asn1148Ser)
c.3341A>G (p.Asn1114Ser)
c.3446A>G (p.Asn1149Ser)
c.2741A>G (p.Asn914Ser)
c.2270A>G (p.Asn757Ser)
n.3437A>G
c.2657A>G (p.Asn886Ser)
c.2189A>G (p.Asn730Ser)
n.3537A>G
n.3389A>G
n.3305A>G
 dbSNP gnomAD v2
17g.67128676T>GCA400710964HELZc.3362A>C (p.Asn1121Thr)
c.3365A>C (p.Asn1122Thr)
c.3443A>C (p.Asn1148Thr)
c.3341A>C (p.Asn1114Thr)
c.3446A>C (p.Asn1149Thr)
c.2741A>C (p.Asn914Thr)
c.2270A>C (p.Asn757Thr)
n.3437A>C
c.2657A>C (p.Asn886Thr)
c.2189A>C (p.Asn730Thr)
n.3537A>C
n.3389A>C
n.3305A>C
17g.67128676T=CA2271597979HELZc.3362A= (p.Asn1121=)
c.3365A= (p.Asn1122=)
c.3443A= (p.Asn1148=)
c.3341A= (p.Asn1114=)
c.3446A= (p.Asn1149=)
c.2741A= (p.Asn914=)
c.2270A= (p.Asn757=)
n.3437A=
c.2657A= (p.Asn886=)
c.2189A= (p.Asn730=)
n.3537A=
n.3389A=
n.3305A=
17g.67128677T>ACA400710965HELZc.3361A>T (p.Asn1121Tyr)
c.3364A>T (p.Asn1122Tyr)
c.3442A>T (p.Asn1148Tyr)
c.3340A>T (p.Asn1114Tyr)
c.3445A>T (p.Asn1149Tyr)
c.2740A>T (p.Asn914Tyr)
c.2269A>T (p.Asn757Tyr)
n.3436A>T
c.2656A>T (p.Asn886Tyr)
c.2188A>T (p.Asn730Tyr)
n.3536A>T
n.3388A>T
n.3304A>T
17g.67128677T>CCA400710966HELZc.3361A>G (p.Asn1121Asp)
c.3364A>G (p.Asn1122Asp)
c.3442A>G (p.Asn1148Asp)
c.3340A>G (p.Asn1114Asp)
c.3445A>G (p.Asn1149Asp)
c.2740A>G (p.Asn914Asp)
c.2269A>G (p.Asn757Asp)
n.3436A>G
c.2656A>G (p.Asn886Asp)
c.2188A>G (p.Asn730Asp)
n.3536A>G
n.3388A>G
n.3304A>G
 dbSNP
17g.67128677T>GCA400710967HELZc.3361A>C (p.Asn1121His)
c.3364A>C (p.Asn1122His)
c.3442A>C (p.Asn1148His)
c.3340A>C (p.Asn1114His)
c.3445A>C (p.Asn1149His)
c.2740A>C (p.Asn914His)
c.2269A>C (p.Asn757His)
n.3436A>C
c.2656A>C (p.Asn886His)
c.2188A>C (p.Asn730His)
n.3536A>C
n.3388A>C
n.3304A>C
17g.67128677T=CA2271597980HELZc.3361A= (p.Asn1121=)
c.3364A= (p.Asn1122=)
c.3442A= (p.Asn1148=)
c.3340A= (p.Asn1114=)
c.3445A= (p.Asn1149=)
c.2740A= (p.Asn914=)
c.2269A= (p.Asn757=)
n.3436A=
c.2656A= (p.Asn886=)
c.2188A= (p.Asn730=)
n.3536A=
n.3388A=
n.3304A=
17g.67128678G>ACA501487558HELZc.3360C>T (p.Thr1120=)
c.3363C>T (p.Thr1121=)
c.3441C>T (p.Thr1147=)
c.3339C>T (p.Thr1113=)
c.3444C>T (p.Thr1148=)
c.2739C>T (p.Thr913=)
c.2268C>T (p.Thr756=)
n.3435C>T
c.2655C>T (p.Thr885=)
c.2187C>T (p.Thr729=)
n.3535C>T
n.3387C>T
n.3303C>T
17g.67128678G>CCA501487560HELZc.3360C>G (p.Thr1120=)
c.3363C>G (p.Thr1121=)
c.3441C>G (p.Thr1147=)
c.3339C>G (p.Thr1113=)
c.3444C>G (p.Thr1148=)
c.2739C>G (p.Thr913=)
c.2268C>G (p.Thr756=)
n.3435C>G
c.2655C>G (p.Thr885=)
c.2187C>G (p.Thr729=)
n.3535C>G
n.3387C>G
n.3303C>G
 gnomAD v4
17g.67128678G>TCA501487561HELZc.3360C>A (p.Thr1120=)
c.3363C>A (p.Thr1121=)
c.3441C>A (p.Thr1147=)
c.3339C>A (p.Thr1113=)
c.3444C>A (p.Thr1148=)
c.2739C>A (p.Thr913=)
c.2268C>A (p.Thr756=)
n.3435C>A
c.2655C>A (p.Thr885=)
c.2187C>A (p.Thr729=)
n.3535C>A
n.3387C>A
n.3303C>A
17g.67128679G>ACA400710970HELZc.3359C>T (p.Thr1120Ile)
c.3362C>T (p.Thr1121Ile)
c.3440C>T (p.Thr1147Ile)
c.3338C>T (p.Thr1113Ile)
c.3443C>T (p.Thr1148Ile)
c.2738C>T (p.Thr913Ile)
c.2267C>T (p.Thr756Ile)
n.3434C>T
c.2654C>T (p.Thr885Ile)
c.2186C>T (p.Thr729Ile)
n.3534C>T
n.3386C>T
n.3302C>T
17g.67128679G>CCA400710968HELZc.3359C>G (p.Thr1120Ser)
c.3362C>G (p.Thr1121Ser)
c.3440C>G (p.Thr1147Ser)
c.3338C>G (p.Thr1113Ser)
c.3443C>G (p.Thr1148Ser)
c.2738C>G (p.Thr913Ser)
c.2267C>G (p.Thr756Ser)
n.3434C>G
c.2654C>G (p.Thr885Ser)
c.2186C>G (p.Thr729Ser)
n.3534C>G
n.3386C>G
n.3302C>G
 gnomAD v4
17g.67128679G=CA2271597981HELZc.3359C= (p.Thr1120=)
c.3362C= (p.Thr1121=)
c.3440C= (p.Thr1147=)
c.3338C= (p.Thr1113=)
c.3443C= (p.Thr1148=)
c.2738C= (p.Thr913=)
c.2267C= (p.Thr756=)
n.3434C=
c.2654C= (p.Thr885=)
c.2186C= (p.Thr729=)
n.3534C=
n.3386C=
n.3302C=
17g.67128679G>TCA400710969HELZc.3359C>A (p.Thr1120Asn)
c.3362C>A (p.Thr1121Asn)
c.3440C>A (p.Thr1147Asn)
c.3338C>A (p.Thr1113Asn)
c.3443C>A (p.Thr1148Asn)
c.2738C>A (p.Thr913Asn)
c.2267C>A (p.Thr756Asn)
n.3434C>A
c.2654C>A (p.Thr885Asn)
c.2186C>A (p.Thr729Asn)
n.3534C>A
n.3386C>A
n.3302C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.67128680T>ACA400710971HELZc.3358A>T (p.Thr1120Ser)
c.3361A>T (p.Thr1121Ser)
c.3439A>T (p.Thr1147Ser)
c.3337A>T (p.Thr1113Ser)
c.3442A>T (p.Thr1148Ser)
c.2737A>T (p.Thr913Ser)
c.2266A>T (p.Thr756Ser)
n.3433A>T
c.2653A>T (p.Thr885Ser)
c.2185A>T (p.Thr729Ser)
n.3533A>T
n.3385A>T
n.3301A>T
17g.67128680T>CCA400710972HELZc.3358A>G (p.Thr1120Ala)
c.3361A>G (p.Thr1121Ala)
c.3439A>G (p.Thr1147Ala)
c.3337A>G (p.Thr1113Ala)
c.3442A>G (p.Thr1148Ala)
c.2737A>G (p.Thr913Ala)
c.2266A>G (p.Thr756Ala)
n.3433A>G
c.2653A>G (p.Thr885Ala)
c.2185A>G (p.Thr729Ala)
n.3533A>G
n.3385A>G
n.3301A>G
 gnomAD v4 COSMIC
17g.67128680T>GCA400710973HELZc.3358A>C (p.Thr1120Pro)
c.3361A>C (p.Thr1121Pro)
c.3439A>C (p.Thr1147Pro)
c.3337A>C (p.Thr1113Pro)
c.3442A>C (p.Thr1148Pro)
c.2737A>C (p.Thr913Pro)
c.2266A>C (p.Thr756Pro)
n.3433A>C
c.2653A>C (p.Thr885Pro)
c.2185A>C (p.Thr729Pro)
n.3533A>C
n.3385A>C
n.3301A>C
17g.67128681A=CA2271597982HELZc.3357T= (p.Ser1119=)
c.3360T= (p.Ser1120=)
c.3438T= (p.Ser1146=)
c.3336T= (p.Ser1112=)
c.3441T= (p.Ser1147=)
c.2736T= (p.Ser912=)
c.2265T= (p.Ser755=)
n.3432T=
c.2652T= (p.Ser884=)
c.2184T= (p.Ser728=)
n.3532T=
n.3384T=
n.3300T=
17g.67128681A>CCA400710974HELZc.3357T>G (p.Ser1119Arg)
c.3360T>G (p.Ser1120Arg)
c.3438T>G (p.Ser1146Arg)
c.3336T>G (p.Ser1112Arg)
c.3441T>G (p.Ser1147Arg)
c.2736T>G (p.Ser912Arg)
c.2265T>G (p.Ser755Arg)
n.3432T>G
c.2652T>G (p.Ser884Arg)
c.2184T>G (p.Ser728Arg)
n.3532T>G
n.3384T>G
n.3300T>G
17g.67128681A>GCA501487565HELZc.3357T>C (p.Ser1119=)
c.3360T>C (p.Ser1120=)
c.3438T>C (p.Ser1146=)
c.3336T>C (p.Ser1112=)
c.3441T>C (p.Ser1147=)
c.2736T>C (p.Ser912=)
c.2265T>C (p.Ser755=)
n.3432T>C
c.2652T>C (p.Ser884=)
c.2184T>C (p.Ser728=)
n.3532T>C
n.3384T>C
n.3300T>C
17g.67128681A>TCA400710975HELZc.3357T>A (p.Ser1119Arg)
c.3360T>A (p.Ser1120Arg)
c.3438T>A (p.Ser1146Arg)
c.3336T>A (p.Ser1112Arg)
c.3441T>A (p.Ser1147Arg)
c.2736T>A (p.Ser912Arg)
c.2265T>A (p.Ser755Arg)
n.3432T>A
c.2652T>A (p.Ser884Arg)
c.2184T>A (p.Ser728Arg)
n.3532T>A
n.3384T>A
n.3300T>A
 dbSNP
17g.67128682C>ACA400710977HELZc.3356G>T (p.Ser1119Ile)
c.3359G>T (p.Ser1120Ile)
c.3437G>T (p.Ser1146Ile)
c.3335G>T (p.Ser1112Ile)
c.3440G>T (p.Ser1147Ile)
c.2735G>T (p.Ser912Ile)
c.2264G>T (p.Ser755Ile)
n.3431G>T
c.2651G>T (p.Ser884Ile)
c.2183G>T (p.Ser728Ile)
n.3531G>T
n.3383G>T
n.3299G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.67128682C=CA2271597983HELZc.3356G= (p.Ser1119=)
c.3359G= (p.Ser1120=)
c.3437G= (p.Ser1146=)
c.3335G= (p.Ser1112=)
c.3440G= (p.Ser1147=)
c.2735G= (p.Ser912=)
c.2264G= (p.Ser755=)
n.3431G=
c.2651G= (p.Ser884=)
c.2183G= (p.Ser728=)
n.3531G=
n.3383G=
n.3299G=
17g.67128682C>GCA400710976HELZc.3356G>C (p.Ser1119Thr)
c.3359G>C (p.Ser1120Thr)
c.3437G>C (p.Ser1146Thr)
c.3335G>C (p.Ser1112Thr)
c.3440G>C (p.Ser1147Thr)
c.2735G>C (p.Ser912Thr)
c.2264G>C (p.Ser755Thr)
n.3431G>C
c.2651G>C (p.Ser884Thr)
c.2183G>C (p.Ser728Thr)
n.3531G>C
n.3383G>C
n.3299G>C
17g.67128682C>TCA293205844HELZc.3356G>A (p.Ser1119Asn)
c.3359G>A (p.Ser1120Asn)
c.3437G>A (p.Ser1146Asn)
c.3335G>A (p.Ser1112Asn)
c.3440G>A (p.Ser1147Asn)
c.2735G>A (p.Ser912Asn)
c.2264G>A (p.Ser755Asn)
n.3431G>A
c.2651G>A (p.Ser884Asn)
c.2183G>A (p.Ser728Asn)
n.3531G>A
n.3383G>A
n.3299G>A
 dbSNP gnomAD v3 gnomAD v4
17g.67128683T>ACA400710978HELZc.3355A>T (p.Ser1119Cys)
c.3358A>T (p.Ser1120Cys)
c.3436A>T (p.Ser1146Cys)
c.3334A>T (p.Ser1112Cys)
c.3439A>T (p.Ser1147Cys)
c.2734A>T (p.Ser912Cys)
c.2263A>T (p.Ser755Cys)
n.3430A>T
c.2650A>T (p.Ser884Cys)
c.2182A>T (p.Ser728Cys)
n.3530A>T
n.3382A>T
n.3298A>T
17g.67128683T>CCA400710979HELZc.3355A>G (p.Ser1119Gly)
c.3358A>G (p.Ser1120Gly)
c.3436A>G (p.Ser1146Gly)
c.3334A>G (p.Ser1112Gly)
c.3439A>G (p.Ser1147Gly)
c.2734A>G (p.Ser912Gly)
c.2263A>G (p.Ser755Gly)
n.3430A>G
c.2650A>G (p.Ser884Gly)
c.2182A>G (p.Ser728Gly)
n.3530A>G
n.3382A>G
n.3298A>G
17g.67128683T>GCA400710980HELZc.3355A>C (p.Ser1119Arg)
c.3358A>C (p.Ser1120Arg)
c.3436A>C (p.Ser1146Arg)
c.3334A>C (p.Ser1112Arg)
c.3439A>C (p.Ser1147Arg)
c.2734A>C (p.Ser912Arg)
c.2263A>C (p.Ser755Arg)
n.3430A>C
c.2650A>C (p.Ser884Arg)
c.2182A>C (p.Ser728Arg)
n.3530A>C
n.3382A>C
n.3298A>C
17g.67128684T>ACA501487567HELZc.3354A>T (p.Gly1118=)
c.3357A>T (p.Gly1119=)
c.3435A>T (p.Gly1145=)
c.3333A>T (p.Gly1111=)
c.3438A>T (p.Gly1146=)
c.2733A>T (p.Gly911=)
c.2262A>T (p.Gly754=)
n.3429A>T
c.2649A>T (p.Gly883=)
c.2181A>T (p.Gly727=)
n.3529A>T
n.3381A>T
n.3297A>T
17g.67128684T>CCA501487568HELZc.3354A>G (p.Gly1118=)
c.3357A>G (p.Gly1119=)
c.3435A>G (p.Gly1145=)
c.3333A>G (p.Gly1111=)
c.3438A>G (p.Gly1146=)
c.2733A>G (p.Gly911=)
c.2262A>G (p.Gly754=)
n.3429A>G
c.2649A>G (p.Gly883=)
c.2181A>G (p.Gly727=)
n.3529A>G
n.3381A>G
n.3297A>G
17g.67128684T>GCA501487569HELZc.3354A>C (p.Gly1118=)
c.3357A>C (p.Gly1119=)
c.3435A>C (p.Gly1145=)
c.3333A>C (p.Gly1111=)
c.3438A>C (p.Gly1146=)
c.2733A>C (p.Gly911=)
c.2262A>C (p.Gly754=)
n.3429A>C
c.2649A>C (p.Gly883=)
c.2181A>C (p.Gly727=)
n.3529A>C
n.3381A>C
n.3297A>C
17g.67128685C>ACA400710981HELZc.3353G>T (p.Gly1118Val)
c.3356G>T (p.Gly1119Val)
c.3434G>T (p.Gly1145Val)
c.3332G>T (p.Gly1111Val)
c.3437G>T (p.Gly1146Val)
c.2732G>T (p.Gly911Val)
c.2261G>T (p.Gly754Val)
n.3428G>T
c.2648G>T (p.Gly883Val)
c.2180G>T (p.Gly727Val)
n.3528G>T
n.3380G>T
n.3296G>T
17g.67128685C>GCA400710982HELZc.3353G>C (p.Gly1118Ala)
c.3356G>C (p.Gly1119Ala)
c.3434G>C (p.Gly1145Ala)
c.3332G>C (p.Gly1111Ala)
c.3437G>C (p.Gly1146Ala)
c.2732G>C (p.Gly911Ala)
c.2261G>C (p.Gly754Ala)
n.3428G>C
c.2648G>C (p.Gly883Ala)
c.2180G>C (p.Gly727Ala)
n.3528G>C
n.3380G>C
n.3296G>C
17g.67128685C>TCA400710983HELZc.3353G>A (p.Gly1118Glu)
c.3356G>A (p.Gly1119Glu)
c.3434G>A (p.Gly1145Glu)
c.3332G>A (p.Gly1111Glu)
c.3437G>A (p.Gly1146Glu)
c.2732G>A (p.Gly911Glu)
c.2261G>A (p.Gly754Glu)
n.3428G>A
c.2648G>A (p.Gly883Glu)
c.2180G>A (p.Gly727Glu)
n.3528G>A
n.3380G>A
n.3296G>A
 gnomAD v4
17g.67128686C>ACA400710984HELZc.3352G>T (p.Gly1118Ter)
c.3355G>T (p.Gly1119Ter)
c.3433G>T (p.Gly1145Ter)
c.3331G>T (p.Gly1111Ter)
c.3436G>T (p.Gly1146Ter)
c.2731G>T (p.Gly911Ter)
c.2260G>T (p.Gly754Ter)
n.3427G>T
c.2647G>T (p.Gly883Ter)
c.2179G>T (p.Gly727Ter)
n.3527G>T
n.3379G>T
n.3295G>T
17g.67128686C>GCA400710985HELZc.3352G>C (p.Gly1118Arg)
c.3355G>C (p.Gly1119Arg)
c.3433G>C (p.Gly1145Arg)
c.3331G>C (p.Gly1111Arg)
c.3436G>C (p.Gly1146Arg)
c.2731G>C (p.Gly911Arg)
c.2260G>C (p.Gly754Arg)
n.3427G>C
c.2647G>C (p.Gly883Arg)
c.2179G>C (p.Gly727Arg)
n.3527G>C
n.3379G>C
n.3295G>C
17g.67128686C>TCA400710986HELZc.3352G>A (p.Gly1118Arg)
c.3355G>A (p.Gly1119Arg)
c.3433G>A (p.Gly1145Arg)
c.3331G>A (p.Gly1111Arg)
c.3436G>A (p.Gly1146Arg)
c.2731G>A (p.Gly911Arg)
c.2260G>A (p.Gly754Arg)
n.3427G>A
c.2647G>A (p.Gly883Arg)
c.2179G>A (p.Gly727Arg)
n.3527G>A
n.3379G>A
n.3295G>A
17g.67128687T>ACA501487571HELZc.3351A>T (p.Ser1117=)
c.3354A>T (p.Ser1118=)
c.3432A>T (p.Ser1144=)
c.3330A>T (p.Ser1110=)
c.3435A>T (p.Ser1145=)
c.2730A>T (p.Ser910=)
c.2259A>T (p.Ser753=)
n.3426A>T
c.2646A>T (p.Ser882=)
c.2178A>T (p.Ser726=)
n.3526A>T
n.3378A>T
n.3294A>T
17g.67128687T>CCA293205845HELZc.3351A>G (p.Ser1117=)
c.3354A>G (p.Ser1118=)
c.3432A>G (p.Ser1144=)
c.3330A>G (p.Ser1110=)
c.3435A>G (p.Ser1145=)
c.2730A>G (p.Ser910=)
c.2259A>G (p.Ser753=)
n.3426A>G
c.2646A>G (p.Ser882=)
c.2178A>G (p.Ser726=)
n.3526A>G
n.3378A>G
n.3294A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.67128687T>GCA501487573HELZc.3351A>C (p.Ser1117=)
c.3354A>C (p.Ser1118=)
c.3432A>C (p.Ser1144=)
c.3330A>C (p.Ser1110=)
c.3435A>C (p.Ser1145=)
c.2730A>C (p.Ser910=)
c.2259A>C (p.Ser753=)
n.3426A>C
c.2646A>C (p.Ser882=)
c.2178A>C (p.Ser726=)
n.3526A>C
n.3378A>C
n.3294A>C
17g.67128687T=CA2271597984HELZc.3351A= (p.Ser1117=)
c.3354A= (p.Ser1118=)
c.3432A= (p.Ser1144=)
c.3330A= (p.Ser1110=)
c.3435A= (p.Ser1145=)
c.2730A= (p.Ser910=)
c.2259A= (p.Ser753=)
n.3426A=
c.2646A= (p.Ser882=)
c.2178A= (p.Ser726=)
n.3526A=
n.3378A=
n.3294A=
17g.67128688G>ACA400710987HELZc.3350C>T (p.Ser1117Leu)
c.3353C>T (p.Ser1118Leu)
c.3431C>T (p.Ser1144Leu)
c.3329C>T (p.Ser1110Leu)
c.3434C>T (p.Ser1145Leu)
c.2729C>T (p.Ser910Leu)
c.2258C>T (p.Ser753Leu)
n.3425C>T
c.2645C>T (p.Ser882Leu)
c.2177C>T (p.Ser726Leu)
n.3525C>T
n.3377C>T
n.3293C>T
17g.67128688G>CCA400710988HELZc.3350C>G (p.Ser1117Ter)
c.3353C>G (p.Ser1118Ter)
c.3431C>G (p.Ser1144Ter)
c.3329C>G (p.Ser1110Ter)
c.3434C>G (p.Ser1145Ter)
c.2729C>G (p.Ser910Ter)
c.2258C>G (p.Ser753Ter)
n.3425C>G
c.2645C>G (p.Ser882Ter)
c.2177C>G (p.Ser726Ter)
n.3525C>G
n.3377C>G
n.3293C>G
17g.67128688G>TCA400710989HELZc.3350C>A (p.Ser1117Ter)
c.3353C>A (p.Ser1118Ter)
c.3431C>A (p.Ser1144Ter)
c.3329C>A (p.Ser1110Ter)
c.3434C>A (p.Ser1145Ter)
c.2729C>A (p.Ser910Ter)
c.2258C>A (p.Ser753Ter)
n.3425C>A
c.2645C>A (p.Ser882Ter)
c.2177C>A (p.Ser726Ter)
n.3525C>A
n.3377C>A
n.3293C>A
17g.67128689A>CCA400710992HELZc.3349T>G (p.Ser1117Ala)
c.3352T>G (p.Ser1118Ala)
c.3430T>G (p.Ser1144Ala)
c.3328T>G (p.Ser1110Ala)
c.3433T>G (p.Ser1145Ala)
c.2728T>G (p.Ser910Ala)
c.2257T>G (p.Ser753Ala)
n.3424T>G
c.2644T>G (p.Ser882Ala)
c.2176T>G (p.Ser726Ala)
n.3524T>G
n.3376T>G
n.3292T>G
17g.67128689A>GCA400710991HELZc.3349T>C (p.Ser1117Pro)
c.3352T>C (p.Ser1118Pro)
c.3430T>C (p.Ser1144Pro)
c.3328T>C (p.Ser1110Pro)
c.3433T>C (p.Ser1145Pro)
c.2728T>C (p.Ser910Pro)
c.2257T>C (p.Ser753Pro)
n.3424T>C
c.2644T>C (p.Ser882Pro)
c.2176T>C (p.Ser726Pro)
n.3524T>C
n.3376T>C
n.3292T>C
17g.67128689A>TCA400710990HELZc.3349T>A (p.Ser1117Thr)
c.3352T>A (p.Ser1118Thr)
c.3430T>A (p.Ser1144Thr)
c.3328T>A (p.Ser1110Thr)
c.3433T>A (p.Ser1145Thr)
c.2728T>A (p.Ser910Thr)
c.2257T>A (p.Ser753Thr)
n.3424T>A
c.2644T>A (p.Ser882Thr)
c.2176T>A (p.Ser726Thr)
n.3524T>A
n.3376T>A
n.3292T>A
17g.67128690A>CCA400710993HELZc.3348T>G (p.His1116Gln)
c.3351T>G (p.His1117Gln)
c.3429T>G (p.His1143Gln)
c.3327T>G (p.His1109Gln)
c.3432T>G (p.His1144Gln)
c.2727T>G (p.His909Gln)
c.2256T>G (p.His752Gln)
n.3423T>G
c.2643T>G (p.His881Gln)
c.2175T>G (p.His725Gln)
n.3523T>G
n.3375T>G
n.3291T>G
17g.67128690A>GCA501487576HELZc.3348T>C (p.His1116=)
c.3351T>C (p.His1117=)
c.3429T>C (p.His1143=)
c.3327T>C (p.His1109=)
c.3432T>C (p.His1144=)
c.2727T>C (p.His909=)
c.2256T>C (p.His752=)
n.3423T>C
c.2643T>C (p.His881=)
c.2175T>C (p.His725=)
n.3523T>C
n.3375T>C
n.3291T>C
17g.67128690A>TCA400710994HELZc.3348T>A (p.His1116Gln)
c.3351T>A (p.His1117Gln)
c.3429T>A (p.His1143Gln)
c.3327T>A (p.His1109Gln)
c.3432T>A (p.His1144Gln)
c.2727T>A (p.His909Gln)
c.2256T>A (p.His752Gln)
n.3423T>A
c.2643T>A (p.His881Gln)
c.2175T>A (p.His725Gln)
n.3523T>A
n.3375T>A
n.3291T>A
17g.67128691T>ACA400710995HELZc.3347A>T (p.His1116Leu)
c.3350A>T (p.His1117Leu)
c.3428A>T (p.His1143Leu)
c.3326A>T (p.His1109Leu)
c.3431A>T (p.His1144Leu)
c.2726A>T (p.His909Leu)
c.2255A>T (p.His752Leu)
n.3422A>T
c.2642A>T (p.His881Leu)
c.2174A>T (p.His725Leu)
n.3522A>T
n.3374A>T
n.3290A>T
 dbSNP gnomAD v2 gnomAD v4
17g.67128691T>CCA400710996HELZc.3347A>G (p.His1116Arg)
c.3350A>G (p.His1117Arg)
c.3428A>G (p.His1143Arg)
c.3326A>G (p.His1109Arg)
c.3431A>G (p.His1144Arg)
c.2726A>G (p.His909Arg)
c.2255A>G (p.His752Arg)
n.3422A>G
c.2642A>G (p.His881Arg)
c.2174A>G (p.His725Arg)
n.3522A>G
n.3374A>G
n.3290A>G
 gnomAD v4
17g.67128691T>GCA400710997HELZc.3347A>C (p.His1116Pro)
c.3350A>C (p.His1117Pro)
c.3428A>C (p.His1143Pro)
c.3326A>C (p.His1109Pro)
c.3431A>C (p.His1144Pro)
c.2726A>C (p.His909Pro)
c.2255A>C (p.His752Pro)
n.3422A>C
c.2642A>C (p.His881Pro)
c.2174A>C (p.His725Pro)
n.3522A>C
n.3374A>C
n.3290A>C
17g.67128691T=CA2271597985HELZc.3347A= (p.His1116=)
c.3350A= (p.His1117=)
c.3428A= (p.His1143=)
c.3326A= (p.His1109=)
c.3431A= (p.His1144=)
c.2726A= (p.His909=)
c.2255A= (p.His752=)
n.3422A=
c.2642A= (p.His881=)
c.2174A= (p.His725=)
n.3522A=
n.3374A=
n.3290A=
17g.67128692G>ACA400710998HELZc.3346C>T (p.His1116Tyr)
c.3349C>T (p.His1117Tyr)
c.3427C>T (p.His1143Tyr)
c.3325C>T (p.His1109Tyr)
c.3430C>T (p.His1144Tyr)
c.2725C>T (p.His909Tyr)
c.2254C>T (p.His752Tyr)
n.3421C>T
c.2641C>T (p.His881Tyr)
c.2173C>T (p.His725Tyr)
n.3521C>T
n.3373C>T
n.3289C>T
 gnomAD v4
17g.67128692G>CCA400710999HELZc.3346C>G (p.His1116Asp)
c.3349C>G (p.His1117Asp)
c.3427C>G (p.His1143Asp)
c.3325C>G (p.His1109Asp)
c.3430C>G (p.His1144Asp)
c.2725C>G (p.His909Asp)
c.2254C>G (p.His752Asp)
n.3421C>G
c.2641C>G (p.His881Asp)
c.2173C>G (p.His725Asp)
n.3521C>G
n.3373C>G
n.3289C>G
17g.67128692G>TCA400711000HELZc.3346C>A (p.His1116Asn)
c.3349C>A (p.His1117Asn)
c.3427C>A (p.His1143Asn)
c.3325C>A (p.His1109Asn)
c.3430C>A (p.His1144Asn)
c.2725C>A (p.His909Asn)
c.2254C>A (p.His752Asn)
n.3421C>A
c.2641C>A (p.His881Asn)
c.2173C>A (p.His725Asn)
n.3521C>A
n.3373C>A
n.3289C>A
17g.67128693C>ACA400711001HELZc.3345G>T (p.Gln1115His)
c.3348G>T (p.Gln1116His)
c.3426G>T (p.Gln1142His)
c.3324G>T (p.Gln1108His)
c.3429G>T (p.Gln1143His)
c.2724G>T (p.Gln908His)
c.2253G>T (p.Gln751His)
n.3420G>T
c.2640G>T (p.Gln880His)
c.2172G>T (p.Gln724His)
n.3520G>T
n.3372G>T
n.3288G>T
17g.67128693C=CA2271597986HELZc.3345G= (p.Gln1115=)
c.3348G= (p.Gln1116=)
c.3426G= (p.Gln1142=)
c.3324G= (p.Gln1108=)
c.3429G= (p.Gln1143=)
c.2724G= (p.Gln908=)
c.2253G= (p.Gln751=)
n.3420G=
c.2640G= (p.Gln880=)
c.2172G= (p.Gln724=)
n.3520G=
n.3372G=
n.3288G=
17g.67128693C>GCA400711002HELZc.3345G>C (p.Gln1115His)
c.3348G>C (p.Gln1116His)
c.3426G>C (p.Gln1142His)
c.3324G>C (p.Gln1108His)
c.3429G>C (p.Gln1143His)
c.2724G>C (p.Gln908His)
c.2253G>C (p.Gln751His)
n.3420G>C
c.2640G>C (p.Gln880His)
c.2172G>C (p.Gln724His)
n.3520G>C
n.3372G>C
n.3288G>C
17g.67128693C>TCA501487578HELZc.3345G>A (p.Gln1115=)
c.3348G>A (p.Gln1116=)
c.3426G>A (p.Gln1142=)
c.3324G>A (p.Gln1108=)
c.3429G>A (p.Gln1143=)
c.2724G>A (p.Gln908=)
c.2253G>A (p.Gln751=)
n.3420G>A
c.2640G>A (p.Gln880=)
c.2172G>A (p.Gln724=)
n.3520G>A
n.3372G>A
n.3288G>A
 dbSNP gnomAD v2 gnomAD v4
17g.67128694T>ACA400711003HELZc.3344A>T (p.Gln1115Leu)
c.3347A>T (p.Gln1116Leu)
c.3425A>T (p.Gln1142Leu)
c.3323A>T (p.Gln1108Leu)
c.3428A>T (p.Gln1143Leu)
c.2723A>T (p.Gln908Leu)
c.2252A>T (p.Gln751Leu)
n.3419A>T
c.2639A>T (p.Gln880Leu)
c.2171A>T (p.Gln724Leu)
n.3519A>T
n.3371A>T
n.3287A>T
17g.67128694T>CCA400711004HELZc.3344A>G (p.Gln1115Arg)
c.3347A>G (p.Gln1116Arg)
c.3425A>G (p.Gln1142Arg)
c.3323A>G (p.Gln1108Arg)
c.3428A>G (p.Gln1143Arg)
c.2723A>G (p.Gln908Arg)
c.2252A>G (p.Gln751Arg)
n.3419A>G
c.2639A>G (p.Gln880Arg)
c.2171A>G (p.Gln724Arg)
n.3519A>G
n.3371A>G
n.3287A>G
 dbSNP gnomAD v2 gnomAD v4
17g.67128694T>GCA400711005HELZc.3344A>C (p.Gln1115Pro)
c.3347A>C (p.Gln1116Pro)
c.3425A>C (p.Gln1142Pro)
c.3323A>C (p.Gln1108Pro)
c.3428A>C (p.Gln1143Pro)
c.2723A>C (p.Gln908Pro)
c.2252A>C (p.Gln751Pro)
n.3419A>C
c.2639A>C (p.Gln880Pro)
c.2171A>C (p.Gln724Pro)
n.3519A>C
n.3371A>C
n.3287A>C
17g.67128694T=CA2271597987HELZc.3344A= (p.Gln1115=)
c.3347A= (p.Gln1116=)
c.3425A= (p.Gln1142=)
c.3323A= (p.Gln1108=)
c.3428A= (p.Gln1143=)
c.2723A= (p.Gln908=)
c.2252A= (p.Gln751=)
n.3419A=
c.2639A= (p.Gln880=)
c.2171A= (p.Gln724=)
n.3519A=
n.3371A=
n.3287A=
17g.67128695G>ACA400711007HELZc.3343C>T (p.Gln1115Ter)
c.3346C>T (p.Gln1116Ter)
c.3424C>T (p.Gln1142Ter)
c.3322C>T (p.Gln1108Ter)
c.3427C>T (p.Gln1143Ter)
c.2722C>T (p.Gln908Ter)
c.2251C>T (p.Gln751Ter)
n.3418C>T
c.2638C>T (p.Gln880Ter)
c.2170C>T (p.Gln724Ter)
n.3518C>T
n.3370C>T
n.3286C>T
17g.67128695G>CCA400711008HELZc.3343C>G (p.Gln1115Glu)
c.3346C>G (p.Gln1116Glu)
c.3424C>G (p.Gln1142Glu)
c.3322C>G (p.Gln1108Glu)
c.3427C>G (p.Gln1143Glu)
c.2722C>G (p.Gln908Glu)
c.2251C>G (p.Gln751Glu)
n.3418C>G
c.2638C>G (p.Gln880Glu)
c.2170C>G (p.Gln724Glu)
n.3518C>G
n.3370C>G
n.3286C>G
 dbSNP gnomAD v2 gnomAD v4
17g.67128695G=CA2271597988HELZc.3343C= (p.Gln1115=)
c.3346C= (p.Gln1116=)
c.3424C= (p.Gln1142=)
c.3322C= (p.Gln1108=)
c.3427C= (p.Gln1143=)
c.2722C= (p.Gln908=)
c.2251C= (p.Gln751=)
n.3418C=
c.2638C= (p.Gln880=)
c.2170C= (p.Gln724=)
n.3518C=
n.3370C=
n.3286C=
17g.67128695G>TCA400711006HELZc.3343C>A (p.Gln1115Lys)
c.3346C>A (p.Gln1116Lys)
c.3424C>A (p.Gln1142Lys)
c.3322C>A (p.Gln1108Lys)
c.3427C>A (p.Gln1143Lys)
c.2722C>A (p.Gln908Lys)
c.2251C>A (p.Gln751Lys)
n.3418C>A
c.2638C>A (p.Gln880Lys)
c.2170C>A (p.Gln724Lys)
n.3518C>A
n.3370C>A
n.3286C>A
17g.67128696C>ACA501487582HELZc.3342G>T (p.Leu1114=)
c.3345G>T (p.Leu1115=)
c.3423G>T (p.Leu1141=)
c.3321G>T (p.Leu1107=)
c.3426G>T (p.Leu1142=)
c.2721G>T (p.Leu907=)
c.2250G>T (p.Leu750=)
n.3417G>T
c.2637G>T (p.Leu879=)
c.2169G>T (p.Leu723=)
n.3517G>T
n.3369G>T
n.3285G>T
17g.67128696C=CA2271597989HELZc.3342G= (p.Leu1114=)
c.3345G= (p.Leu1115=)
c.3423G= (p.Leu1141=)
c.3321G= (p.Leu1107=)
c.3426G= (p.Leu1142=)
c.2721G= (p.Leu907=)
c.2250G= (p.Leu750=)
n.3417G=
c.2637G= (p.Leu879=)
c.2169G= (p.Leu723=)
n.3517G=
n.3369G=
n.3285G=
17g.67128696C>GCA501487583HELZc.3342G>C (p.Leu1114=)
c.3345G>C (p.Leu1115=)
c.3423G>C (p.Leu1141=)
c.3321G>C (p.Leu1107=)
c.3426G>C (p.Leu1142=)
c.2721G>C (p.Leu907=)
c.2250G>C (p.Leu750=)
n.3417G>C
c.2637G>C (p.Leu879=)
c.2169G>C (p.Leu723=)
n.3517G>C
n.3369G>C
n.3285G>C
17g.67128696C>TCA8722775HELZc.3342G>A (p.Leu1114=)
c.3345G>A (p.Leu1115=)
c.3423G>A (p.Leu1141=)
c.3321G>A (p.Leu1107=)
c.3426G>A (p.Leu1142=)
c.2721G>A (p.Leu907=)
c.2250G>A (p.Leu750=)
n.3417G>A
c.2637G>A (p.Leu879=)
c.2169G>A (p.Leu723=)
n.3517G>A
n.3369G>A
n.3285G>A
 dbSNP ExAC gnomAD v2
17g.67128697A=CA2271597990HELZc.3341T= (p.Leu1114=)
c.3344T= (p.Leu1115=)
c.3422T= (p.Leu1141=)
c.3320T= (p.Leu1107=)
c.3425T= (p.Leu1142=)
c.2720T= (p.Leu907=)
c.2249T= (p.Leu750=)
n.3416T=
c.2636T= (p.Leu879=)
c.2168T= (p.Leu723=)
n.3516T=
n.3368T=
n.3284T=
17g.67128697A>CCA400711009HELZc.3341T>G (p.Leu1114Arg)
c.3344T>G (p.Leu1115Arg)
c.3422T>G (p.Leu1141Arg)
c.3320T>G (p.Leu1107Arg)
c.3425T>G (p.Leu1142Arg)
c.2720T>G (p.Leu907Arg)
c.2249T>G (p.Leu750Arg)
n.3416T>G
c.2636T>G (p.Leu879Arg)
c.2168T>G (p.Leu723Arg)
n.3516T>G
n.3368T>G
n.3284T>G
 dbSNP gnomAD v3 gnomAD v4
17g.67128697A>GCA400711010HELZc.3341T>C (p.Leu1114Pro)
c.3344T>C (p.Leu1115Pro)
c.3422T>C (p.Leu1141Pro)
c.3320T>C (p.Leu1107Pro)
c.3425T>C (p.Leu1142Pro)
c.2720T>C (p.Leu907Pro)
c.2249T>C (p.Leu750Pro)
n.3416T>C
c.2636T>C (p.Leu879Pro)
c.2168T>C (p.Leu723Pro)
n.3516T>C
n.3368T>C
n.3284T>C
 dbSNP gnomAD v3 gnomAD v4
17g.67128697A>TCA400711011HELZc.3341T>A (p.Leu1114Gln)
c.3344T>A (p.Leu1115Gln)
c.3422T>A (p.Leu1141Gln)
c.3320T>A (p.Leu1107Gln)
c.3425T>A (p.Leu1142Gln)
c.2720T>A (p.Leu907Gln)
c.2249T>A (p.Leu750Gln)
n.3416T>A
c.2636T>A (p.Leu879Gln)
c.2168T>A (p.Leu723Gln)
n.3516T>A
n.3368T>A
n.3284T>A
17g.67128698G>ACA501487584HELZc.3340C>T (p.Leu1114=)
c.3343C>T (p.Leu1115=)
c.3421C>T (p.Leu1141=)
c.3319C>T (p.Leu1107=)
c.3424C>T (p.Leu1142=)
c.2719C>T (p.Leu907=)
c.2248C>T (p.Leu750=)
n.3415C>T
c.2635C>T (p.Leu879=)
c.2167C>T (p.Leu723=)
n.3515C>T
n.3367C>T
n.3283C>T
 gnomAD v4
17g.67128698G>CCA400711012HELZc.3340C>G (p.Leu1114Val)
c.3343C>G (p.Leu1115Val)
c.3421C>G (p.Leu1141Val)
c.3319C>G (p.Leu1107Val)
c.3424C>G (p.Leu1142Val)
c.2719C>G (p.Leu907Val)
c.2248C>G (p.Leu750Val)
n.3415C>G
c.2635C>G (p.Leu879Val)
c.2167C>G (p.Leu723Val)
n.3515C>G
n.3367C>G
n.3283C>G
 dbSNP gnomAD v3 gnomAD v4
17g.67128698G=CA2271597991HELZc.3340C= (p.Leu1114=)
c.3343C= (p.Leu1115=)
c.3421C= (p.Leu1141=)
c.3319C= (p.Leu1107=)
c.3424C= (p.Leu1142=)
c.2719C= (p.Leu907=)
c.2248C= (p.Leu750=)
n.3415C=
c.2635C= (p.Leu879=)
c.2167C= (p.Leu723=)
n.3515C=
n.3367C=
n.3283C=
17g.67128698G>TCA400711013HELZc.3340C>A (p.Leu1114Met)
c.3343C>A (p.Leu1115Met)
c.3421C>A (p.Leu1141Met)
c.3319C>A (p.Leu1107Met)
c.3424C>A (p.Leu1142Met)
c.2719C>A (p.Leu907Met)
c.2248C>A (p.Leu750Met)
n.3415C>A
c.2635C>A (p.Leu879Met)
c.2167C>A (p.Leu723Met)
n.3515C>A
n.3367C>A
n.3283C>A
17g.67128699T>ACA400711014HELZc.3339A>T (p.Arg1113Ser)
c.3342A>T (p.Arg1114Ser)
c.3420A>T (p.Arg1140Ser)
c.3318A>T (p.Arg1106Ser)
c.3423A>T (p.Arg1141Ser)
c.2718A>T (p.Arg906Ser)
c.2247A>T (p.Arg749Ser)
n.3414A>T
c.2634A>T (p.Arg878Ser)
c.2166A>T (p.Arg722Ser)
n.3514A>T
n.3366A>T
n.3282A>T
17g.67128699T>CCA501487588HELZc.3339A>G (p.Arg1113=)
c.3342A>G (p.Arg1114=)
c.3420A>G (p.Arg1140=)
c.3318A>G (p.Arg1106=)
c.3423A>G (p.Arg1141=)
c.2718A>G (p.Arg906=)
c.2247A>G (p.Arg749=)
n.3414A>G
c.2634A>G (p.Arg878=)
c.2166A>G (p.Arg722=)
n.3514A>G
n.3366A>G
n.3282A>G
17g.67128699T>GCA400711015HELZc.3339A>C (p.Arg1113Ser)
c.3342A>C (p.Arg1114Ser)
c.3420A>C (p.Arg1140Ser)
c.3318A>C (p.Arg1106Ser)
c.3423A>C (p.Arg1141Ser)
c.2718A>C (p.Arg906Ser)
c.2247A>C (p.Arg749Ser)
n.3414A>C
c.2634A>C (p.Arg878Ser)
c.2166A>C (p.Arg722Ser)
n.3514A>C
n.3366A>C
n.3282A>C
17g.67128700C>ACA400711016HELZc.3338G>T (p.Arg1113Ile)
c.3341G>T (p.Arg1114Ile)
c.3419G>T (p.Arg1140Ile)
c.3317G>T (p.Arg1106Ile)
c.3422G>T (p.Arg1141Ile)
c.2717G>T (p.Arg906Ile)
c.2246G>T (p.Arg749Ile)
n.3413G>T
c.2633G>T (p.Arg878Ile)
c.2165G>T (p.Arg722Ile)
n.3513G>T
n.3365G>T
n.3281G>T
17g.67128700C>GCA400711017HELZc.3338G>C (p.Arg1113Thr)
c.3341G>C (p.Arg1114Thr)
c.3419G>C (p.Arg1140Thr)
c.3317G>C (p.Arg1106Thr)
c.3422G>C (p.Arg1141Thr)
c.2717G>C (p.Arg906Thr)
c.2246G>C (p.Arg749Thr)
n.3413G>C
c.2633G>C (p.Arg878Thr)
c.2165G>C (p.Arg722Thr)
n.3513G>C
n.3365G>C
n.3281G>C
17g.67128700C>TCA400711018HELZc.3338G>A (p.Arg1113Lys)
c.3341G>A (p.Arg1114Lys)
c.3419G>A (p.Arg1140Lys)
c.3317G>A (p.Arg1106Lys)
c.3422G>A (p.Arg1141Lys)
c.2717G>A (p.Arg906Lys)
c.2246G>A (p.Arg749Lys)
n.3413G>A
c.2633G>A (p.Arg878Lys)
c.2165G>A (p.Arg722Lys)
n.3513G>A
n.3365G>A
n.3281G>A
 gnomAD v4
17g.67128701T>ACA400711019HELZc.3337A>T (p.Arg1113Ter)
c.3340A>T (p.Arg1114Ter)
c.3418A>T (p.Arg1140Ter)
c.3316A>T (p.Arg1106Ter)
c.3421A>T (p.Arg1141Ter)
c.2716A>T (p.Arg906Ter)
c.2245A>T (p.Arg749Ter)
n.3412A>T
c.2632A>T (p.Arg878Ter)
c.2164A>T (p.Arg722Ter)
n.3512A>T
n.3364A>T
n.3280A>T
17g.67128701T>CCA400711020HELZc.3337A>G (p.Arg1113Gly)
c.3340A>G (p.Arg1114Gly)
c.3418A>G (p.Arg1140Gly)
c.3316A>G (p.Arg1106Gly)
c.3421A>G (p.Arg1141Gly)
c.2716A>G (p.Arg906Gly)
c.2245A>G (p.Arg749Gly)
n.3412A>G
c.2632A>G (p.Arg878Gly)
c.2164A>G (p.Arg722Gly)
n.3512A>G
n.3364A>G
n.3280A>G
17g.67128701T>GCA501487589HELZc.3337A>C (p.Arg1113=)
c.3340A>C (p.Arg1114=)
c.3418A>C (p.Arg1140=)
c.3316A>C (p.Arg1106=)
c.3421A>C (p.Arg1141=)
c.2716A>C (p.Arg906=)
c.2245A>C (p.Arg749=)
n.3412A>C
c.2632A>C (p.Arg878=)
c.2164A>C (p.Arg722=)
n.3512A>C
n.3364A>C
n.3280A>C
17g.67128702T>ACA501487593HELZc.3336A>T (p.Leu1112=)
c.3339A>T (p.Leu1113=)
c.3417A>T (p.Leu1139=)
c.3315A>T (p.Leu1105=)
c.3420A>T (p.Leu1140=)
c.2715A>T (p.Leu905=)
c.2244A>T (p.Leu748=)
n.3411A>T
c.2631A>T (p.Leu877=)
c.2163A>T (p.Leu721=)
n.3511A>T
n.3363A>T
n.3279A>T
17g.67128702T>CCA501487594HELZc.3336A>G (p.Leu1112=)
c.3339A>G (p.Leu1113=)
c.3417A>G (p.Leu1139=)
c.3315A>G (p.Leu1105=)
c.3420A>G (p.Leu1140=)
c.2715A>G (p.Leu905=)
c.2244A>G (p.Leu748=)
n.3411A>G
c.2631A>G (p.Leu877=)
c.2163A>G (p.Leu721=)
n.3511A>G
n.3363A>G
n.3279A>G
17g.67128702T>GCA501487592HELZc.3336A>C (p.Leu1112=)
c.3339A>C (p.Leu1113=)
c.3417A>C (p.Leu1139=)
c.3315A>C (p.Leu1105=)
c.3420A>C (p.Leu1140=)
c.2715A>C (p.Leu905=)
c.2244A>C (p.Leu748=)
n.3411A>C
c.2631A>C (p.Leu877=)
c.2163A>C (p.Leu721=)
n.3511A>C
n.3363A>C
n.3279A>C
17g.67128703A>CCA400711023HELZc.3335T>G (p.Leu1112Arg)
c.3338T>G (p.Leu1113Arg)
c.3416T>G (p.Leu1139Arg)
c.3314T>G (p.Leu1105Arg)
c.3419T>G (p.Leu1140Arg)
c.2714T>G (p.Leu905Arg)
c.2243T>G (p.Leu748Arg)
n.3410T>G
c.2630T>G (p.Leu877Arg)
c.2162T>G (p.Leu721Arg)
n.3510T>G
n.3362T>G
n.3278T>G
17g.67128703A>GCA400711022HELZc.3335T>C (p.Leu1112Pro)
c.3338T>C (p.Leu1113Pro)
c.3416T>C (p.Leu1139Pro)
c.3314T>C (p.Leu1105Pro)
c.3419T>C (p.Leu1140Pro)
c.2714T>C (p.Leu905Pro)
c.2243T>C (p.Leu748Pro)
n.3410T>C
c.2630T>C (p.Leu877Pro)
c.2162T>C (p.Leu721Pro)
n.3510T>C
n.3362T>C
n.3278T>C
17g.67128703A>TCA400711021HELZc.3335T>A (p.Leu1112Gln)
c.3338T>A (p.Leu1113Gln)
c.3416T>A (p.Leu1139Gln)
c.3314T>A (p.Leu1105Gln)
c.3419T>A (p.Leu1140Gln)
c.2714T>A (p.Leu905Gln)
c.2243T>A (p.Leu748Gln)
n.3410T>A
c.2630T>A (p.Leu877Gln)
c.2162T>A (p.Leu721Gln)
n.3510T>A
n.3362T>A
n.3278T>A
17g.67128704G>ACA501487595HELZc.3334C>T (p.Leu1112=)
c.3337C>T (p.Leu1113=)
c.3415C>T (p.Leu1139=)
c.3313C>T (p.Leu1105=)
c.3418C>T (p.Leu1140=)
c.2713C>T (p.Leu905=)
c.2242C>T (p.Leu748=)
n.3409C>T
c.2629C>T (p.Leu877=)
c.2161C>T (p.Leu721=)
n.3509C>T
n.3361C>T
n.3277C>T
 dbSNP gnomAD v3 gnomAD v4
17g.67128704G>CCA400711024HELZc.3334C>G (p.Leu1112Val)
c.3337C>G (p.Leu1113Val)
c.3415C>G (p.Leu1139Val)
c.3313C>G (p.Leu1105Val)
c.3418C>G (p.Leu1140Val)
c.2713C>G (p.Leu905Val)
c.2242C>G (p.Leu748Val)
n.3409C>G
c.2629C>G (p.Leu877Val)
c.2161C>G (p.Leu721Val)
n.3509C>G
n.3361C>G
n.3277C>G
 COSMIC
17g.67128704G=CA2271597992HELZc.3334C= (p.Leu1112=)
c.3337C= (p.Leu1113=)
c.3415C= (p.Leu1139=)
c.3313C= (p.Leu1105=)
c.3418C= (p.Leu1140=)
c.2713C= (p.Leu905=)
c.2242C= (p.Leu748=)
n.3409C=
c.2629C= (p.Leu877=)
c.2161C= (p.Leu721=)
n.3509C=
n.3361C=
n.3277C=
17g.67128704G>TCA400711025HELZc.3334C>A (p.Leu1112Ile)
c.3337C>A (p.Leu1113Ile)
c.3415C>A (p.Leu1139Ile)
c.3313C>A (p.Leu1105Ile)
c.3418C>A (p.Leu1140Ile)
c.2713C>A (p.Leu905Ile)
c.2242C>A (p.Leu748Ile)
n.3409C>A
c.2629C>A (p.Leu877Ile)
c.2161C>A (p.Leu721Ile)
n.3509C>A
n.3361C>A
n.3277C>A
17g.67128705A>CCA501487600HELZc.3333T>G (p.Ala1111=)
c.3336T>G (p.Ala1112=)
c.3414T>G (p.Ala1138=)
c.3312T>G (p.Ala1104=)
c.3417T>G (p.Ala1139=)
c.2712T>G (p.Ala904=)
c.2241T>G (p.Ala747=)
n.3408T>G
c.2628T>G (p.Ala876=)
c.2160T>G (p.Ala720=)
n.3508T>G
n.3360T>G
n.3276T>G
17g.67128705A>GCA501487598HELZc.3333T>C (p.Ala1111=)
c.3336T>C (p.Ala1112=)
c.3414T>C (p.Ala1138=)
c.3312T>C (p.Ala1104=)
c.3417T>C (p.Ala1139=)
c.2712T>C (p.Ala904=)
c.2241T>C (p.Ala747=)
n.3408T>C
c.2628T>C (p.Ala876=)
c.2160T>C (p.Ala720=)
n.3508T>C
n.3360T>C
n.3276T>C
17g.67128705A>TCA501487599HELZc.3333T>A (p.Ala1111=)
c.3336T>A (p.Ala1112=)
c.3414T>A (p.Ala1138=)
c.3312T>A (p.Ala1104=)
c.3417T>A (p.Ala1139=)
c.2712T>A (p.Ala904=)
c.2241T>A (p.Ala747=)
n.3408T>A
c.2628T>A (p.Ala876=)
c.2160T>A (p.Ala720=)
n.3508T>A
n.3360T>A
n.3276T>A
17g.67128706G>ACA400711026HELZc.3332C>T (p.Ala1111Val)
c.3335C>T (p.Ala1112Val)
c.3413C>T (p.Ala1138Val)
c.3311C>T (p.Ala1104Val)
c.3416C>T (p.Ala1139Val)
c.2711C>T (p.Ala904Val)
c.2240C>T (p.Ala747Val)
n.3407C>T
c.2627C>T (p.Ala876Val)
c.2159C>T (p.Ala720Val)
n.3507C>T
n.3359C>T
n.3275C>T
 gnomAD v4 COSMIC
17g.67128706G>CCA400711027HELZc.3332C>G (p.Ala1111Gly)
c.3335C>G (p.Ala1112Gly)
c.3413C>G (p.Ala1138Gly)
c.3311C>G (p.Ala1104Gly)
c.3416C>G (p.Ala1139Gly)
c.2711C>G (p.Ala904Gly)
c.2240C>G (p.Ala747Gly)
n.3407C>G
c.2627C>G (p.Ala876Gly)
c.2159C>G (p.Ala720Gly)
n.3507C>G
n.3359C>G
n.3275C>G
17g.67128706G>TCA400711028HELZc.3332C>A (p.Ala1111Asp)
c.3335C>A (p.Ala1112Asp)
c.3413C>A (p.Ala1138Asp)
c.3311C>A (p.Ala1104Asp)
c.3416C>A (p.Ala1139Asp)
c.2711C>A (p.Ala904Asp)
c.2240C>A (p.Ala747Asp)
n.3407C>A
c.2627C>A (p.Ala876Asp)
c.2159C>A (p.Ala720Asp)
n.3507C>A
n.3359C>A
n.3275C>A
17g.67128707C>ACA400711029HELZc.3331G>T (p.Ala1111Ser)
c.3334G>T (p.Ala1112Ser)
c.3412G>T (p.Ala1138Ser)
c.3310G>T (p.Ala1104Ser)
c.3415G>T (p.Ala1139Ser)
c.2710G>T (p.Ala904Ser)
c.2239G>T (p.Ala747Ser)
n.3406G>T
c.2626G>T (p.Ala876Ser)
c.2158G>T (p.Ala720Ser)
n.3506G>T
n.3358G>T
n.3274G>T
17g.67128707C>GCA400711030HELZc.3331G>C (p.Ala1111Pro)
c.3334G>C (p.Ala1112Pro)
c.3412G>C (p.Ala1138Pro)
c.3310G>C (p.Ala1104Pro)
c.3415G>C (p.Ala1139Pro)
c.2710G>C (p.Ala904Pro)
c.2239G>C (p.Ala747Pro)
n.3406G>C
c.2626G>C (p.Ala876Pro)
c.2158G>C (p.Ala720Pro)
n.3506G>C
n.3358G>C
n.3274G>C
17g.67128707C>TCA400711031HELZc.3331G>A (p.Ala1111Thr)
c.3334G>A (p.Ala1112Thr)
c.3412G>A (p.Ala1138Thr)
c.3310G>A (p.Ala1104Thr)
c.3415G>A (p.Ala1139Thr)
c.2710G>A (p.Ala904Thr)
c.2239G>A (p.Ala747Thr)
n.3406G>A
c.2626G>A (p.Ala876Thr)
c.2158G>A (p.Ala720Thr)
n.3506G>A
n.3358G>A
n.3274G>A
17g.67128708C>ACA501487601HELZc.3330G>T (p.Arg1110=)
c.3333G>T (p.Arg1111=)
c.3411G>T (p.Arg1137=)
c.3309G>T (p.Arg1103=)
c.3414G>T (p.Arg1138=)
c.2709G>T (p.Arg903=)
c.2238G>T (p.Arg746=)
n.3405G>T
c.2625G>T (p.Arg875=)
c.2157G>T (p.Arg719=)
n.3505G>T
n.3357G>T
n.3273G>T
17g.67128708C>GCA501487603HELZc.3330G>C (p.Arg1110=)
c.3333G>C (p.Arg1111=)
c.3411G>C (p.Arg1137=)
c.3309G>C (p.Arg1103=)
c.3414G>C (p.Arg1138=)
c.2709G>C (p.Arg903=)
c.2238G>C (p.Arg746=)
n.3405G>C
c.2625G>C (p.Arg875=)
c.2157G>C (p.Arg719=)
n.3505G>C
n.3357G>C
n.3273G>C
17g.67128708C>TCA501487602HELZc.3330G>A (p.Arg1110=)
c.3333G>A (p.Arg1111=)
c.3411G>A (p.Arg1137=)
c.3309G>A (p.Arg1103=)
c.3414G>A (p.Arg1138=)
c.2709G>A (p.Arg903=)
c.2238G>A (p.Arg746=)
n.3405G>A
c.2625G>A (p.Arg875=)
c.2157G>A (p.Arg719=)
n.3505G>A
n.3357G>A
n.3273G>A
17g.67128709C>ACA400711032HELZc.3329G>T (p.Arg1110Leu)
c.3332G>T (p.Arg1111Leu)
c.3410G>T (p.Arg1137Leu)
c.3308G>T (p.Arg1103Leu)
c.3413G>T (p.Arg1138Leu)
c.2708G>T (p.Arg903Leu)
c.2237G>T (p.Arg746Leu)
n.3404G>T
c.2624G>T (p.Arg875Leu)
c.2156G>T (p.Arg719Leu)
n.3504G>T
n.3356G>T
n.3272G>T
17g.67128709C=CA2271597993HELZc.3329G= (p.Arg1110=)
c.3332G= (p.Arg1111=)
c.3410G= (p.Arg1137=)
c.3308G= (p.Arg1103=)
c.3413G= (p.Arg1138=)
c.2708G= (p.Arg903=)
c.2237G= (p.Arg746=)
n.3404G=
c.2624G= (p.Arg875=)
c.2156G= (p.Arg719=)
n.3504G=
n.3356G=
n.3272G=
17g.67128709C>GCA400711033HELZc.3329G>C (p.Arg1110Pro)
c.3332G>C (p.Arg1111Pro)
c.3410G>C (p.Arg1137Pro)
c.3308G>C (p.Arg1103Pro)
c.3413G>C (p.Arg1138Pro)
c.2708G>C (p.Arg903Pro)
c.2237G>C (p.Arg746Pro)
n.3404G>C
c.2624G>C (p.Arg875Pro)
c.2156G>C (p.Arg719Pro)
n.3504G>C
n.3356G>C
n.3272G>C
17g.67128709C>TCA8722776HELZc.3329G>A (p.Arg1110Gln)
c.3332G>A (p.Arg1111Gln)
c.3410G>A (p.Arg1137Gln)
c.3308G>A (p.Arg1103Gln)
c.3413G>A (p.Arg1138Gln)
c.2708G>A (p.Arg903Gln)
c.2237G>A (p.Arg746Gln)
n.3404G>A
c.2624G>A (p.Arg875Gln)
c.2156G>A (p.Arg719Gln)
n.3504G>A
n.3356G>A
n.3272G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.67128710G>ACA8722777HELZc.3328C>T (p.Arg1110Trp)
c.3331C>T (p.Arg1111Trp)
c.3409C>T (p.Arg1137Trp)
c.3307C>T (p.Arg1103Trp)
c.3412C>T (p.Arg1138Trp)
c.2707C>T (p.Arg903Trp)
c.2236C>T (p.Arg746Trp)
n.3403C>T
c.2623C>T (p.Arg875Trp)
c.2155C>T (p.Arg719Trp)
n.3503C>T
n.3355C>T
n.3271C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.67128710G>CCA400711034HELZc.3328C>G (p.Arg1110Gly)
c.3331C>G (p.Arg1111Gly)
c.3409C>G (p.Arg1137Gly)
c.3307C>G (p.Arg1103Gly)
c.3412C>G (p.Arg1138Gly)
c.2707C>G (p.Arg903Gly)
c.2236C>G (p.Arg746Gly)
n.3403C>G
c.2623C>G (p.Arg875Gly)
c.2155C>G (p.Arg719Gly)
n.3503C>G
n.3355C>G
n.3271C>G
 COSMIC
17g.67128710G=CA2271597994HELZc.3328C= (p.Arg1110=)
c.3331C= (p.Arg1111=)
c.3409C= (p.Arg1137=)
c.3307C= (p.Arg1103=)
c.3412C= (p.Arg1138=)
c.2707C= (p.Arg903=)
c.2236C= (p.Arg746=)
n.3403C=
c.2623C= (p.Arg875=)
c.2155C= (p.Arg719=)
n.3503C=
n.3355C=
n.3271C=
17g.67128710G>TCA501487604HELZc.3328C>A (p.Arg1110=)
c.3331C>A (p.Arg1111=)
c.3409C>A (p.Arg1137=)
c.3307C>A (p.Arg1103=)
c.3412C>A (p.Arg1138=)
c.2707C>A (p.Arg903=)
c.2236C>A (p.Arg746=)
n.3403C>A
c.2623C>A (p.Arg875=)
c.2155C>A (p.Arg719=)
n.3503C>A
n.3355C>A
n.3271C>A
17g.67128711G>ACA501487605HELZc.3327C>T (p.Pro1109=)
c.3330C>T (p.Pro1110=)
c.3408C>T (p.Pro1136=)
c.3306C>T (p.Pro1102=)
c.3411C>T (p.Pro1137=)
c.2706C>T (p.Pro902=)
c.2235C>T (p.Pro745=)
n.3402C>T
c.2622C>T (p.Pro874=)
c.2154C>T (p.Pro718=)
n.3502C>T
n.3354C>T
n.3270C>T
17g.67128711G>CCA501487606HELZc.3327C>G (p.Pro1109=)
c.3330C>G (p.Pro1110=)
c.3408C>G (p.Pro1136=)
c.3306C>G (p.Pro1102=)
c.3411C>G (p.Pro1137=)
c.2706C>G (p.Pro902=)
c.2235C>G (p.Pro745=)
n.3402C>G
c.2622C>G (p.Pro874=)
c.2154C>G (p.Pro718=)
n.3502C>G
n.3354C>G
n.3270C>G
17g.67128711G>TCA501487607HELZc.3327C>A (p.Pro1109=)
c.3330C>A (p.Pro1110=)
c.3408C>A (p.Pro1136=)
c.3306C>A (p.Pro1102=)
c.3411C>A (p.Pro1137=)
c.2706C>A (p.Pro902=)
c.2235C>A (p.Pro745=)
n.3402C>A
c.2622C>A (p.Pro874=)
c.2154C>A (p.Pro718=)
n.3502C>A
n.3354C>A
n.3270C>A
17g.67128712G>ACA400711036HELZc.3326C>T (p.Pro1109Leu)
c.3329C>T (p.Pro1110Leu)
c.3407C>T (p.Pro1136Leu)
c.3305C>T (p.Pro1102Leu)
c.3410C>T (p.Pro1137Leu)
c.2705C>T (p.Pro902Leu)
c.2234C>T (p.Pro745Leu)
n.3401C>T
c.2621C>T (p.Pro874Leu)
c.2153C>T (p.Pro718Leu)
n.3501C>T
n.3353C>T
n.3269C>T
17g.67128712G>CCA400711037HELZc.3326C>G (p.Pro1109Arg)
c.3329C>G (p.Pro1110Arg)
c.3407C>G (p.Pro1136Arg)
c.3305C>G (p.Pro1102Arg)
c.3410C>G (p.Pro1137Arg)
c.2705C>G (p.Pro902Arg)
c.2234C>G (p.Pro745Arg)
n.3401C>G
c.2621C>G (p.Pro874Arg)
c.2153C>G (p.Pro718Arg)
n.3501C>G
n.3353C>G
n.3269C>G
17g.67128712G>TCA400711035HELZc.3326C>A (p.Pro1109His)
c.3329C>A (p.Pro1110His)
c.3407C>A (p.Pro1136His)
c.3305C>A (p.Pro1102His)
c.3410C>A (p.Pro1137His)
c.2705C>A (p.Pro902His)
c.2234C>A (p.Pro745His)
n.3401C>A
c.2621C>A (p.Pro874His)
c.2153C>A (p.Pro718His)
n.3501C>A
n.3353C>A
n.3269C>A
17g.67128713G>ACA400711038HELZc.3325C>T (p.Pro1109Ser)
c.3328C>T (p.Pro1110Ser)
c.3406C>T (p.Pro1136Ser)
c.3304C>T (p.Pro1102Ser)
c.3409C>T (p.Pro1137Ser)
c.2704C>T (p.Pro902Ser)
c.2233C>T (p.Pro745Ser)
n.3400C>T
c.2620C>T (p.Pro874Ser)
c.2152C>T (p.Pro718Ser)
n.3500C>T
n.3352C>T
n.3268C>T
 gnomAD v4
17g.67128713G>CCA400711039HELZc.3325C>G (p.Pro1109Ala)
c.3328C>G (p.Pro1110Ala)
c.3406C>G (p.Pro1136Ala)
c.3304C>G (p.Pro1102Ala)
c.3409C>G (p.Pro1137Ala)
c.2704C>G (p.Pro902Ala)
c.2233C>G (p.Pro745Ala)
n.3400C>G
c.2620C>G (p.Pro874Ala)
c.2152C>G (p.Pro718Ala)
n.3500C>G
n.3352C>G
n.3268C>G
17g.67128713G>TCA400711040HELZc.3325C>A (p.Pro1109Thr)
c.3328C>A (p.Pro1110Thr)
c.3406C>A (p.Pro1136Thr)
c.3304C>A (p.Pro1102Thr)
c.3409C>A (p.Pro1137Thr)
c.2704C>A (p.Pro902Thr)
c.2233C>A (p.Pro745Thr)
n.3400C>A
c.2620C>A (p.Pro874Thr)
c.2152C>A (p.Pro718Thr)
n.3500C>A
n.3352C>A
n.3268C>A
17g.67128714G>ACA8722778HELZc.3324C>T (p.Ile1108=)
c.3327C>T (p.Ile1109=)
c.3405C>T (p.Ile1135=)
c.3303C>T (p.Ile1101=)
c.3408C>T (p.Ile1136=)
c.2703C>T (p.Ile901=)
c.2232C>T (p.Ile744=)
n.3399C>T
c.2619C>T (p.Ile873=)
c.2151C>T (p.Ile717=)
n.3499C>T
n.3351C>T
n.3267C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.67128714G>CCA400711041HELZc.3324C>G (p.Ile1108Met)
c.3327C>G (p.Ile1109Met)
c.3405C>G (p.Ile1135Met)
c.3303C>G (p.Ile1101Met)
c.3408C>G (p.Ile1136Met)
c.2703C>G (p.Ile901Met)
c.2232C>G (p.Ile744Met)
n.3399C>G
c.2619C>G (p.Ile873Met)
c.2151C>G (p.Ile717Met)
n.3499C>G
n.3351C>G
n.3267C>G
17g.67128714G=CA2271597995HELZc.3324C= (p.Ile1108=)
c.3327C= (p.Ile1109=)
c.3405C= (p.Ile1135=)
c.3303C= (p.Ile1101=)
c.3408C= (p.Ile1136=)
c.2703C= (p.Ile901=)
c.2232C= (p.Ile744=)
n.3399C=
c.2619C= (p.Ile873=)
c.2151C= (p.Ile717=)
n.3499C=
n.3351C=
n.3267C=
17g.67128714G>TCA501487608HELZc.3324C>A (p.Ile1108=)
c.3327C>A (p.Ile1109=)
c.3405C>A (p.Ile1135=)
c.3303C>A (p.Ile1101=)
c.3408C>A (p.Ile1136=)
c.2703C>A (p.Ile901=)
c.2232C>A (p.Ile744=)
n.3399C>A
c.2619C>A (p.Ile873=)
c.2151C>A (p.Ile717=)
n.3499C>A
n.3351C>A
n.3267C>A
17g.67128715A=CA2271597996HELZc.3323T= (p.Ile1108=)
c.3326T= (p.Ile1109=)
c.3404T= (p.Ile1135=)
c.3302T= (p.Ile1101=)
c.3407T= (p.Ile1136=)
c.2702T= (p.Ile901=)
c.2231T= (p.Ile744=)
n.3398T=
c.2618T= (p.Ile873=)
c.2150T= (p.Ile717=)
n.3498T=
n.3350T=
n.3266T=
17g.67128715A>CCA400711042HELZc.3323T>G (p.Ile1108Ser)
c.3326T>G (p.Ile1109Ser)
c.3404T>G (p.Ile1135Ser)
c.3302T>G (p.Ile1101Ser)
c.3407T>G (p.Ile1136Ser)
c.2702T>G (p.Ile901Ser)
c.2231T>G (p.Ile744Ser)
n.3398T>G
c.2618T>G (p.Ile873Ser)
c.2150T>G (p.Ile717Ser)
n.3498T>G
n.3350T>G
n.3266T>G
17g.67128715A>GCA400711043HELZc.3323T>C (p.Ile1108Thr)
c.3326T>C (p.Ile1109Thr)
c.3404T>C (p.Ile1135Thr)
c.3302T>C (p.Ile1101Thr)
c.3407T>C (p.Ile1136Thr)
c.2702T>C (p.Ile901Thr)
c.2231T>C (p.Ile744Thr)
n.3398T>C
c.2618T>C (p.Ile873Thr)
c.2150T>C (p.Ile717Thr)
n.3498T>C
n.3350T>C
n.3266T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.67128715A>TCA400711044HELZc.3323T>A (p.Ile1108Asn)
c.3326T>A (p.Ile1109Asn)
c.3404T>A (p.Ile1135Asn)
c.3302T>A (p.Ile1101Asn)
c.3407T>A (p.Ile1136Asn)
c.2702T>A (p.Ile901Asn)
c.2231T>A (p.Ile744Asn)
n.3398T>A
c.2618T>A (p.Ile873Asn)
c.2150T>A (p.Ile717Asn)
n.3498T>A
n.3350T>A
n.3266T>A
17g.67128716T>ACA400711045HELZc.3322A>T (p.Ile1108Phe)
c.3325A>T (p.Ile1109Phe)
c.3403A>T (p.Ile1135Phe)
c.3301A>T (p.Ile1101Phe)
c.3406A>T (p.Ile1136Phe)
c.2701A>T (p.Ile901Phe)
c.2230A>T (p.Ile744Phe)
n.3397A>T
c.2617A>T (p.Ile873Phe)
c.2149A>T (p.Ile717Phe)
n.3497A>T
n.3349A>T
n.3265A>T
17g.67128716T>CCA16609539HELZc.3322A>G (p.Ile1108Val)
c.3325A>G (p.Ile1109Val)
c.3403A>G (p.Ile1135Val)
c.3301A>G (p.Ile1101Val)
c.3406A>G (p.Ile1136Val)
c.2701A>G (p.Ile901Val)
c.2230A>G (p.Ile744Val)
n.3397A>G
c.2617A>G (p.Ile873Val)
c.2149A>G (p.Ile717Val)
n.3497A>G
n.3349A>G
n.3265A>G
 ClinVar dbSNP
17g.67128716T>GCA400711046HELZc.3322A>C (p.Ile1108Leu)
c.3325A>C (p.Ile1109Leu)
c.3403A>C (p.Ile1135Leu)
c.3301A>C (p.Ile1101Leu)
c.3406A>C (p.Ile1136Leu)
c.2701A>C (p.Ile901Leu)
c.2230A>C (p.Ile744Leu)
n.3397A>C
c.2617A>C (p.Ile873Leu)
c.2149A>C (p.Ile717Leu)
n.3497A>C
n.3349A>C
n.3265A>C
17g.67128716T=CA2271597997HELZc.3322A= (p.Ile1108=)
c.3325A= (p.Ile1109=)
c.3403A= (p.Ile1135=)
c.3301A= (p.Ile1101=)
c.3406A= (p.Ile1136=)
c.2701A= (p.Ile901=)
c.2230A= (p.Ile744=)
n.3397A=
c.2617A= (p.Ile873=)
c.2149A= (p.Ile717=)
n.3497A=
n.3349A=
n.3265A=
17g.67128717A>CCA400711047HELZc.3321T>G (p.Phe1107Leu)
c.3324T>G (p.Phe1108Leu)
c.3402T>G (p.Phe1134Leu)
c.3300T>G (p.Phe1100Leu)
c.3405T>G (p.Phe1135Leu)
c.2700T>G (p.Phe900Leu)
c.2229T>G (p.Phe743Leu)
n.3396T>G
c.2616T>G (p.Phe872Leu)
c.2148T>G (p.Phe716Leu)
n.3496T>G
n.3348T>G
n.3264T>G
17g.67128717A>GCA501487610HELZc.3321T>C (p.Phe1107=)
c.3324T>C (p.Phe1108=)
c.3402T>C (p.Phe1134=)
c.3300T>C (p.Phe1100=)
c.3405T>C (p.Phe1135=)
c.2700T>C (p.Phe900=)
c.2229T>C (p.Phe743=)
n.3396T>C
c.2616T>C (p.Phe872=)
c.2148T>C (p.Phe716=)
n.3496T>C
n.3348T>C
n.3264T>C
 gnomAD v4
17g.67128717A>TCA400711048HELZc.3321T>A (p.Phe1107Leu)
c.3324T>A (p.Phe1108Leu)
c.3402T>A (p.Phe1134Leu)
c.3300T>A (p.Phe1100Leu)
c.3405T>A (p.Phe1135Leu)
c.2700T>A (p.Phe900Leu)
c.2229T>A (p.Phe743Leu)
n.3396T>A
c.2616T>A (p.Phe872Leu)
c.2148T>A (p.Phe716Leu)
n.3496T>A
n.3348T>A
n.3264T>A
17g.67128718A>CCA400711049HELZc.3320T>G (p.Phe1107Cys)
c.3323T>G (p.Phe1108Cys)
c.3401T>G (p.Phe1134Cys)
c.3299T>G (p.Phe1100Cys)
c.3404T>G (p.Phe1135Cys)
c.2699T>G (p.Phe900Cys)
c.2228T>G (p.Phe743Cys)
n.3395T>G
c.2615T>G (p.Phe872Cys)
c.2147T>G (p.Phe716Cys)
n.3495T>G
n.3347T>G
n.3263T>G
17g.67128718A>GCA400711051HELZc.3320T>C (p.Phe1107Ser)
c.3323T>C (p.Phe1108Ser)
c.3401T>C (p.Phe1134Ser)
c.3299T>C (p.Phe1100Ser)
c.3404T>C (p.Phe1135Ser)
c.2699T>C (p.Phe900Ser)
c.2228T>C (p.Phe743Ser)
n.3395T>C
c.2615T>C (p.Phe872Ser)
c.2147T>C (p.Phe716Ser)
n.3495T>C
n.3347T>C
n.3263T>C
17g.67128718A>TCA400711050HELZc.3320T>A (p.Phe1107Tyr)
c.3323T>A (p.Phe1108Tyr)
c.3401T>A (p.Phe1134Tyr)
c.3299T>A (p.Phe1100Tyr)
c.3404T>A (p.Phe1135Tyr)
c.2699T>A (p.Phe900Tyr)
c.2228T>A (p.Phe743Tyr)
n.3395T>A
c.2615T>A (p.Phe872Tyr)
c.2147T>A (p.Phe716Tyr)
n.3495T>A
n.3347T>A
n.3263T>A
17g.67128719A>CCA400711053HELZc.3319T>G (p.Phe1107Val)
c.3322T>G (p.Phe1108Val)
c.3400T>G (p.Phe1134Val)
c.3298T>G (p.Phe1100Val)
c.3403T>G (p.Phe1135Val)
c.2698T>G (p.Phe900Val)
c.2227T>G (p.Phe743Val)
n.3394T>G
c.2614T>G (p.Phe872Val)
c.2146T>G (p.Phe716Val)
n.3494T>G
n.3346T>G
n.3262T>G
17g.67128719A>GCA400711056HELZc.3319T>C (p.Phe1107Leu)
c.3322T>C (p.Phe1108Leu)
c.3400T>C (p.Phe1134Leu)
c.3298T>C (p.Phe1100Leu)
c.3403T>C (p.Phe1135Leu)
c.2698T>C (p.Phe900Leu)
c.2227T>C (p.Phe743Leu)
n.3394T>C
c.2614T>C (p.Phe872Leu)
c.2146T>C (p.Phe716Leu)
n.3494T>C
n.3346T>C
n.3262T>C
17g.67128719A>TCA400711058HELZc.3319T>A (p.Phe1107Ile)
c.3322T>A (p.Phe1108Ile)
c.3400T>A (p.Phe1134Ile)
c.3298T>A (p.Phe1100Ile)
c.3403T>A (p.Phe1135Ile)
c.2698T>A (p.Phe900Ile)
c.2227T>A (p.Phe743Ile)
n.3394T>A
c.2614T>A (p.Phe872Ile)
c.2146T>A (p.Phe716Ile)
n.3494T>A
n.3346T>A
n.3262T>A
17g.67128720T>ACA400711060HELZc.3318A>T (p.Glu1106Asp)
c.3321A>T (p.Glu1107Asp)
c.3399A>T (p.Glu1133Asp)
c.3297A>T (p.Glu1099Asp)
c.3402A>T (p.Glu1134Asp)
c.2697A>T (p.Glu899Asp)
c.2226A>T (p.Glu742Asp)
n.3393A>T
c.2613A>T (p.Glu871Asp)
c.2145A>T (p.Glu715Asp)
n.3493A>T
n.3345A>T
n.3261A>T
17g.67128720T>CCA501487613HELZc.3318A>G (p.Glu1106=)
c.3321A>G (p.Glu1107=)
c.3399A>G (p.Glu1133=)
c.3297A>G (p.Glu1099=)
c.3402A>G (p.Glu1134=)
c.2697A>G (p.Glu899=)
c.2226A>G (p.Glu742=)
n.3393A>G
c.2613A>G (p.Glu871=)
c.2145A>G (p.Glu715=)
n.3493A>G
n.3345A>G
n.3261A>G
17g.67128720T>GCA400711062HELZc.3318A>C (p.Glu1106Asp)
c.3321A>C (p.Glu1107Asp)
c.3399A>C (p.Glu1133Asp)
c.3297A>C (p.Glu1099Asp)
c.3402A>C (p.Glu1134Asp)
c.2697A>C (p.Glu899Asp)
c.2226A>C (p.Glu742Asp)
n.3393A>C
c.2613A>C (p.Glu871Asp)
c.2145A>C (p.Glu715Asp)
n.3493A>C
n.3345A>C
n.3261A>C

Number of alleles fetched