Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.47698526G>A | CA396101583 | PHKB | c.*1656G>A (n.*1656G>A) c.*710G>A (n.*710G>A) c.3082G>A (p.Val1028Ile) c.96G>A c.3061G>A (p.Val1021Ile) n.1898G>A c.1660G>A (p.Val554Ile) c.1969G>A (p.Val657Ile) n.3006G>A | |
16 | g.47698526G>C | CA396101584 | PHKB | c.*1656G>C (n.*1656G>C) c.*710G>C (n.*710G>C) c.3082G>C (p.Val1028Leu) c.96G>C c.3061G>C (p.Val1021Leu) n.1898G>C c.1660G>C (p.Val554Leu) c.1969G>C (p.Val657Leu) n.3006G>C | |
16 | g.47698526G>T | CA396101585 | PHKB | c.*1656G>T (n.*1656G>T) c.*710G>T (n.*710G>T) c.3082G>T (p.Val1028Phe) c.96G>T c.3061G>T (p.Val1021Phe) n.1898G>T c.1660G>T (p.Val554Phe) c.1969G>T (p.Val657Phe) n.3006G>T | |
16 | g.47698527T>A | CA396101586 | PHKB | c.*1657T>A (n.*1657T>A) c.*711T>A (n.*711T>A) c.3083T>A (p.Val1028Asp) c.97T>A c.3062T>A (p.Val1021Asp) n.1899T>A c.1661T>A (p.Val554Asp) c.1970T>A (p.Val657Asp) n.3007T>A | |
16 | g.47698527T>C | CA396101587 | PHKB | c.*1657T>C (n.*1657T>C) c.*711T>C (n.*711T>C) c.3083T>C (p.Val1028Ala) c.97T>C c.3062T>C (p.Val1021Ala) n.1899T>C c.1661T>C (p.Val554Ala) c.1970T>C (p.Val657Ala) n.3007T>C | |
16 | g.47698527T>G | CA396101588 | PHKB | c.*1657T>G (n.*1657T>G) c.*711T>G (n.*711T>G) c.3083T>G (p.Val1028Gly) c.97T>G c.3062T>G (p.Val1021Gly) n.1899T>G c.1661T>G (p.Val554Gly) c.1970T>G (p.Val657Gly) n.3007T>G | ClinVar dbSNP |
16 | g.47698528C>A | CA495361475 | PHKB | c.*1658C>A (n.*1658C>A) c.*712C>A (n.*712C>A) c.3084C>A (p.Val1028=) c.98C>A c.3063C>A (p.Val1021=) n.1900C>A c.1662C>A (p.Val554=) c.1971C>A (p.Val657=) n.3008C>A | gnomAD v3 gnomAD v4 |
16 | g.47698528C>G | CA495361476 | PHKB | c.*1658C>G (n.*1658C>G) c.*712C>G (n.*712C>G) c.3084C>G (p.Val1028=) c.98C>G c.3063C>G (p.Val1021=) n.1900C>G c.1662C>G (p.Val554=) c.1971C>G (p.Val657=) n.3008C>G | |
16 | g.47698528C>T | CA495361477 | PHKB | c.*1658C>T (n.*1658C>T) c.*712C>T (n.*712C>T) c.3084C>T (p.Val1028=) c.98C>T c.3063C>T (p.Val1021=) n.1900C>T c.1662C>T (p.Val554=) c.1971C>T (p.Val657=) n.3008C>T | gnomAD v4 |
16 | g.47698529A= | CA2220493560 | PHKB | c.*1659A= (n.*1659A=) c.*713A= (n.*713A=) c.3085A= (p.Lys1029=) c.99A= c.3064A= (p.Lys1022=) n.1901A= c.1663A= (p.Lys555=) c.1972A= (p.Lys658=) n.3009A= | |
16 | g.47698529A>C | CA396101589 | PHKB | c.*1659A>C (n.*1659A>C) c.*713A>C (n.*713A>C) c.3085A>C (p.Lys1029Gln) c.99A>C c.3064A>C (p.Lys1022Gln) n.1901A>C c.1663A>C (p.Lys555Gln) c.1972A>C (p.Lys658Gln) n.3009A>C | |
16 | g.47698529A>G | CA8041426 | PHKB | c.*1659A>G (n.*1659A>G) c.*713A>G (n.*713A>G) c.3085A>G (p.Lys1029Glu) c.99A>G c.3064A>G (p.Lys1022Glu) n.1901A>G c.1663A>G (p.Lys555Glu) c.1972A>G (p.Lys658Glu) n.3009A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698529A>T | CA396101590 | PHKB | c.*1659A>T (n.*1659A>T) c.*713A>T (n.*713A>T) c.3085A>T (p.Lys1029Ter) c.99A>T c.3064A>T (p.Lys1022Ter) n.1901A>T c.1663A>T (p.Lys555Ter) c.1972A>T (p.Lys658Ter) n.3009A>T | |
16 | g.47698530A>C | CA396101591 | PHKB | c.*1660A>C (n.*1660A>C) c.*714A>C (n.*714A>C) c.3086A>C (p.Lys1029Thr) c.100A>C c.3065A>C (p.Lys1022Thr) n.1902A>C c.1664A>C (p.Lys555Thr) c.1973A>C (p.Lys658Thr) n.3010A>C | |
16 | g.47698530A>G | CA396101593 | PHKB | c.*1660A>G (n.*1660A>G) c.*714A>G (n.*714A>G) c.3086A>G (p.Lys1029Arg) c.100A>G c.3065A>G (p.Lys1022Arg) n.1902A>G c.1664A>G (p.Lys555Arg) c.1973A>G (p.Lys658Arg) n.3010A>G | |
16 | g.47698530A>T | CA396101592 | PHKB | c.*1660A>T (n.*1660A>T) c.*714A>T (n.*714A>T) c.3086A>T (p.Lys1029Ile) c.100A>T c.3065A>T (p.Lys1022Ile) n.1902A>T c.1664A>T (p.Lys555Ile) c.1973A>T (p.Lys658Ile) n.3010A>T | |
16 | g.47698531A>C | CA396101594 | PHKB | c.*1661A>C (n.*1661A>C) c.*715A>C (n.*715A>C) c.3087A>C (p.Lys1029Asn) c.101A>C c.3066A>C (p.Lys1022Asn) n.1903A>C c.1665A>C (p.Lys555Asn) c.1974A>C (p.Lys658Asn) n.3011A>C | |
16 | g.47698531A>G | CA495361478 | PHKB | c.*1661A>G (n.*1661A>G) c.*715A>G (n.*715A>G) c.3087A>G (p.Lys1029=) c.101A>G c.3066A>G (p.Lys1022=) n.1903A>G c.1665A>G (p.Lys555=) c.1974A>G (p.Lys658=) n.3011A>G | gnomAD v4 |
16 | g.47698531A>T | CA396101595 | PHKB | c.*1661A>T (n.*1661A>T) c.*715A>T (n.*715A>T) c.3087A>T (p.Lys1029Asn) c.101A>T c.3066A>T (p.Lys1022Asn) n.1903A>T c.1665A>T (p.Lys555Asn) c.1974A>T (p.Lys658Asn) n.3011A>T | |
16 | g.47698532G>A | CA396101596 | PHKB | c.*1662G>A (n.*1662G>A) c.*716G>A (n.*716G>A) c.3088G>A (p.Glu1030Lys) c.102G>A c.3067G>A (p.Glu1023Lys) n.1904G>A c.1666G>A (p.Glu556Lys) c.1975G>A (p.Glu659Lys) n.3012G>A | |
16 | g.47698532G>C | CA396101598 | PHKB | c.*1662G>C (n.*1662G>C) c.*716G>C (n.*716G>C) c.3088G>C (p.Glu1030Gln) c.102G>C c.3067G>C (p.Glu1023Gln) n.1904G>C c.1666G>C (p.Glu556Gln) c.1975G>C (p.Glu659Gln) n.3012G>C | |
16 | g.47698532G>T | CA396101597 | PHKB | c.*1662G>T (n.*1662G>T) c.*716G>T (n.*716G>T) c.3088G>T (p.Glu1030Ter) c.102G>T c.3067G>T (p.Glu1023Ter) n.1904G>T c.1666G>T (p.Glu556Ter) c.1975G>T (p.Glu659Ter) n.3012G>T | |
16 | g.47698532_47698540del | CA2633050213 | PHKB | c.*1662_*1670del (n.*1662_*1670del) c.*716_*724del (n.*716_*724del) c.3088_3096del (p.Glu1030_Phe1032del) c.102_110del c.3067_3075del (p.Glu1023_Phe1025del) n.1904_1912del c.1666_1674del (p.Glu556_Phe558del) c.1975_1983del (p.Glu659_Phe661del) n.3012_3020del | gnomAD v4 |
16 | g.47698533A= | CA2220493561 | PHKB | c.*1663A= (n.*1663A=) c.*717A= (n.*717A=) c.3089A= (p.Glu1030=) c.103A= c.3068A= (p.Glu1023=) n.1905A= c.1667A= (p.Glu556=) c.1976A= (p.Glu659=) n.3013A= | |
16 | g.47698533A>C | CA396101599 | PHKB | c.*1663A>C (n.*1663A>C) c.*717A>C (n.*717A>C) c.3089A>C (p.Glu1030Ala) c.103A>C c.3068A>C (p.Glu1023Ala) n.1905A>C c.1667A>C (p.Glu556Ala) c.1976A>C (p.Glu659Ala) n.3013A>C | |
16 | g.47698533A>G | CA8041427 | PHKB | c.*1663A>G (n.*1663A>G) c.*717A>G (n.*717A>G) c.3089A>G (p.Glu1030Gly) c.103A>G c.3068A>G (p.Glu1023Gly) n.1905A>G c.1667A>G (p.Glu556Gly) c.1976A>G (p.Glu659Gly) n.3013A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.47698533A>T | CA396101600 | PHKB | c.*1663A>T (n.*1663A>T) c.*717A>T (n.*717A>T) c.3089A>T (p.Glu1030Val) c.103A>T c.3068A>T (p.Glu1023Val) n.1905A>T c.1667A>T (p.Glu556Val) c.1976A>T (p.Glu659Val) n.3013A>T | |
16 | g.47698534A>C | CA396101601 | PHKB | c.*1664A>C (n.*1664A>C) c.*718A>C (n.*718A>C) c.3090A>C (p.Glu1030Asp) c.104A>C c.3069A>C (p.Glu1023Asp) n.1906A>C c.1668A>C (p.Glu556Asp) c.1977A>C (p.Glu659Asp) n.3014A>C | |
16 | g.47698534A>G | CA495361480 | PHKB | c.*1664A>G (n.*1664A>G) c.*718A>G (n.*718A>G) c.3090A>G (p.Glu1030=) c.104A>G c.3069A>G (p.Glu1023=) n.1906A>G c.1668A>G (p.Glu556=) c.1977A>G (p.Glu659=) n.3014A>G | gnomAD v4 |
16 | g.47698534A>T | CA396101602 | PHKB | c.*1664A>T (n.*1664A>T) c.*718A>T (n.*718A>T) c.3090A>T (p.Glu1030Asp) c.104A>T c.3069A>T (p.Glu1023Asp) n.1906A>T c.1668A>T (p.Glu556Asp) c.1977A>T (p.Glu659Asp) n.3014A>T | |
16 | g.47698535G>A | CA280739860 | PHKB | c.*1665G>A (n.*1665G>A) c.*719G>A (n.*719G>A) c.3091G>A (p.Ala1031Thr) c.105G>A c.3070G>A (p.Ala1024Thr) n.1907G>A c.1669G>A (p.Ala557Thr) c.1978G>A (p.Ala660Thr) n.3015G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.47698535G>C | CA396101604 | PHKB | c.*1665G>C (n.*1665G>C) c.*719G>C (n.*719G>C) c.3091G>C (p.Ala1031Pro) c.105G>C c.3070G>C (p.Ala1024Pro) n.1907G>C c.1669G>C (p.Ala557Pro) c.1978G>C (p.Ala660Pro) n.3015G>C | |
16 | g.47698535G= | CA2220493562 | PHKB | c.*1665G= (n.*1665G=) c.*719G= (n.*719G=) c.3091G= (p.Ala1031=) c.105G= c.3070G= (p.Ala1024=) n.1907G= c.1669G= (p.Ala557=) c.1978G= (p.Ala660=) n.3015G= | |
16 | g.47698535G>T | CA396101603 | PHKB | c.*1665G>T (n.*1665G>T) c.*719G>T (n.*719G>T) c.3091G>T (p.Ala1031Ser) c.105G>T c.3070G>T (p.Ala1024Ser) n.1907G>T c.1669G>T (p.Ala557Ser) c.1978G>T (p.Ala660Ser) n.3015G>T | gnomAD v4 |
16 | g.47698536C>A | CA396101605 | PHKB | c.*1666C>A (n.*1666C>A) c.*720C>A (n.*720C>A) c.3092C>A (p.Ala1031Glu) c.106C>A c.3071C>A (p.Ala1024Glu) n.1908C>A c.1670C>A (p.Ala557Glu) c.1979C>A (p.Ala660Glu) n.3016C>A | |
16 | g.47698536C= | CA2220493563 | PHKB | c.*1666C= (n.*1666C=) c.*720C= (n.*720C=) c.3092C= (p.Ala1031=) c.106C= c.3071C= (p.Ala1024=) n.1908C= c.1670C= (p.Ala557=) c.1979C= (p.Ala660=) n.3016C= | |
16 | g.47698536C>G | CA396101606 | PHKB | c.*1666C>G (n.*1666C>G) c.*720C>G (n.*720C>G) c.3092C>G (p.Ala1031Gly) c.106C>G c.3071C>G (p.Ala1024Gly) n.1908C>G c.1670C>G (p.Ala557Gly) c.1979C>G (p.Ala660Gly) n.3016C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698536C>T | CA8041428 | PHKB | c.*1666C>T (n.*1666C>T) c.*720C>T (n.*720C>T) c.3092C>T (p.Ala1031Val) c.106C>T c.3071C>T (p.Ala1024Val) n.1908C>T c.1670C>T (p.Ala557Val) c.1979C>T (p.Ala660Val) n.3016C>T | dbSNP ExAC gnomAD v2 |
16 | g.47698537A= | CA2220493564 | PHKB | c.*1667A= (n.*1667A=) c.*721A= (n.*721A=) c.3093A= (p.Ala1031=) c.107A= c.3072A= (p.Ala1024=) n.1909A= c.1671A= (p.Ala557=) c.1980A= (p.Ala660=) n.3017A= | |
16 | g.47698537A>C | CA495361481 | PHKB | c.*1667A>C (n.*1667A>C) c.*721A>C (n.*721A>C) c.3093A>C (p.Ala1031=) c.107A>C c.3072A>C (p.Ala1024=) n.1909A>C c.1671A>C (p.Ala557=) c.1980A>C (p.Ala660=) n.3017A>C | |
16 | g.47698537A>G | CA495361483 | PHKB | c.*1667A>G (n.*1667A>G) c.*721A>G (n.*721A>G) c.3093A>G (p.Ala1031=) c.107A>G c.3072A>G (p.Ala1024=) n.1909A>G c.1671A>G (p.Ala557=) c.1980A>G (p.Ala660=) n.3017A>G | dbSNP |
16 | g.47698537A>T | CA495361482 | PHKB | c.*1667A>T (n.*1667A>T) c.*721A>T (n.*721A>T) c.3093A>T (p.Ala1031=) c.107A>T c.3072A>T (p.Ala1024=) n.1909A>T c.1671A>T (p.Ala557=) c.1980A>T (p.Ala660=) n.3017A>T | |
16 | g.47698538T>A | CA396101607 | PHKB | c.*1668T>A (n.*1668T>A) c.*722T>A (n.*722T>A) c.3094T>A (p.Phe1032Ile) c.108T>A c.3073T>A (p.Phe1025Ile) n.1910T>A c.1672T>A (p.Phe558Ile) c.1981T>A (p.Phe661Ile) n.3018T>A | |
16 | g.47698538T>C | CA396101608 | PHKB | c.*1668T>C (n.*1668T>C) c.*722T>C (n.*722T>C) c.3094T>C (p.Phe1032Leu) c.108T>C c.3073T>C (p.Phe1025Leu) n.1910T>C c.1672T>C (p.Phe558Leu) c.1981T>C (p.Phe661Leu) n.3018T>C | |
16 | g.47698538T>G | CA396101609 | PHKB | c.*1668T>G (n.*1668T>G) c.*722T>G (n.*722T>G) c.3094T>G (p.Phe1032Val) c.108T>G c.3073T>G (p.Phe1025Val) n.1910T>G c.1672T>G (p.Phe558Val) c.1981T>G (p.Phe661Val) n.3018T>G | gnomAD v4 |
16 | g.47698539T>A | CA396101610 | PHKB | c.*1669T>A (n.*1669T>A) c.*723T>A (n.*723T>A) c.3095T>A (p.Phe1032Tyr) c.109T>A c.3074T>A (p.Phe1025Tyr) n.1911T>A c.1673T>A (p.Phe558Tyr) c.1982T>A (p.Phe661Tyr) n.3019T>A | |
16 | g.47698539T>C | CA396101612 | PHKB | c.*1669T>C (n.*1669T>C) c.*723T>C (n.*723T>C) c.3095T>C (p.Phe1032Ser) c.109T>C c.3074T>C (p.Phe1025Ser) n.1911T>C c.1673T>C (p.Phe558Ser) c.1982T>C (p.Phe661Ser) n.3019T>C | |
16 | g.47698539T>G | CA396101611 | PHKB | c.*1669T>G (n.*1669T>G) c.*723T>G (n.*723T>G) c.3095T>G (p.Phe1032Cys) c.109T>G c.3074T>G (p.Phe1025Cys) n.1911T>G c.1673T>G (p.Phe558Cys) c.1982T>G (p.Phe661Cys) n.3019T>G | |
16 | g.47698540T>A | CA396101613 | PHKB | c.*1670T>A (n.*1670T>A) c.*724T>A (n.*724T>A) c.3096T>A (p.Phe1032Leu) c.110T>A c.3075T>A (p.Phe1025Leu) n.1912T>A c.1674T>A (p.Phe558Leu) c.1983T>A (p.Phe661Leu) n.3020T>A | |
16 | g.47698540T>C | CA495361484 | PHKB | c.*1670T>C (n.*1670T>C) c.*724T>C (n.*724T>C) c.3096T>C (p.Phe1032=) c.110T>C c.3075T>C (p.Phe1025=) n.1912T>C c.1674T>C (p.Phe558=) c.1983T>C (p.Phe661=) n.3020T>C | |
16 | g.47698540T>G | CA396101614 | PHKB | c.*1670T>G (n.*1670T>G) c.*724T>G (n.*724T>G) c.3096T>G (p.Phe1032Leu) c.110T>G c.3075T>G (p.Phe1025Leu) n.1912T>G c.1674T>G (p.Phe558Leu) c.1983T>G (p.Phe661Leu) n.3020T>G | |
16 | g.47698541A>C | CA396101615 | PHKB | c.*1671A>C (n.*1671A>C) c.*725A>C (n.*725A>C) c.3097A>C (p.Asn1033His) c.111A>C c.3076A>C (p.Asn1026His) n.1913A>C c.1675A>C (p.Asn559His) c.1984A>C (p.Asn662His) n.3021A>C | |
16 | g.47698541A>G | CA396101616 | PHKB | c.*1671A>G (n.*1671A>G) c.*725A>G (n.*725A>G) c.3097A>G (p.Asn1033Asp) c.111A>G c.3076A>G (p.Asn1026Asp) n.1913A>G c.1675A>G (p.Asn559Asp) c.1984A>G (p.Asn662Asp) n.3021A>G | gnomAD v4 |
16 | g.47698541A>T | CA396101617 | PHKB | c.*1671A>T (n.*1671A>T) c.*725A>T (n.*725A>T) c.3097A>T (p.Asn1033Tyr) c.111A>T c.3076A>T (p.Asn1026Tyr) n.1913A>T c.1675A>T (p.Asn559Tyr) c.1984A>T (p.Asn662Tyr) n.3021A>T | |
16 | g.47698542A= | CA2220493565 | PHKB | c.*1672A= (n.*1672A=) c.*726A= (n.*726A=) c.3098A= (p.Asn1033=) c.112A= c.3077A= (p.Asn1026=) n.1914A= c.1676A= (p.Asn559=) c.1985A= (p.Asn662=) n.3022A= | |
16 | g.47698542A>C | CA396101618 | PHKB | c.*1672A>C (n.*1672A>C) c.*726A>C (n.*726A>C) c.3098A>C (p.Asn1033Thr) c.112A>C c.3077A>C (p.Asn1026Thr) n.1914A>C c.1676A>C (p.Asn559Thr) c.1985A>C (p.Asn662Thr) n.3022A>C | |
16 | g.47698542A>G | CA280739863 | PHKB | c.*1672A>G (n.*1672A>G) c.*726A>G (n.*726A>G) c.3098A>G (p.Asn1033Ser) c.112A>G c.3077A>G (p.Asn1026Ser) n.1914A>G c.1676A>G (p.Asn559Ser) c.1985A>G (p.Asn662Ser) n.3022A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698542A>T | CA396101619 | PHKB | c.*1672A>T (n.*1672A>T) c.*726A>T (n.*726A>T) c.3098A>T (p.Asn1033Ile) c.112A>T c.3077A>T (p.Asn1026Ile) n.1914A>T c.1676A>T (p.Asn559Ile) c.1985A>T (p.Asn662Ile) n.3022A>T | |
16 | g.47698543T>A | CA396101620 | PHKB | c.*1673T>A (n.*1673T>A) c.*727T>A (n.*727T>A) c.3099T>A (p.Asn1033Lys) c.113T>A c.3078T>A (p.Asn1026Lys) n.1915T>A c.1677T>A (p.Asn559Lys) c.1986T>A (p.Asn662Lys) n.3023T>A | |
16 | g.47698543T>C | CA495361485 | PHKB | c.*1673T>C (n.*1673T>C) c.*727T>C (n.*727T>C) c.3099T>C (p.Asn1033=) c.113T>C c.3078T>C (p.Asn1026=) n.1915T>C c.1677T>C (p.Asn559=) c.1986T>C (p.Asn662=) n.3023T>C | |
16 | g.47698543T>G | CA396101621 | PHKB | c.*1673T>G (n.*1673T>G) c.*727T>G (n.*727T>G) c.3099T>G (p.Asn1033Lys) c.113T>G c.3078T>G (p.Asn1026Lys) n.1915T>G c.1677T>G (p.Asn559Lys) c.1986T>G (p.Asn662Lys) n.3023T>G | |
16 | g.47698544G>A | CA8041429 | PHKB | c.*1674G>A (n.*1674G>A) c.*728G>A (n.*728G>A) c.3100G>A (p.Glu1034Lys) c.114G>A c.3079G>A (p.Glu1027Lys) n.1916G>A c.1678G>A (p.Glu560Lys) c.1987G>A (p.Glu663Lys) n.3024G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698544G>C | CA396101623 | PHKB | c.*1674G>C (n.*1674G>C) c.*728G>C (n.*728G>C) c.3100G>C (p.Glu1034Gln) c.114G>C c.3079G>C (p.Glu1027Gln) n.1916G>C c.1678G>C (p.Glu560Gln) c.1987G>C (p.Glu663Gln) n.3024G>C | |
16 | g.47698544G= | CA2220493566 | PHKB | c.*1674G= (n.*1674G=) c.*728G= (n.*728G=) c.3100G= (p.Glu1034=) c.114G= c.3079G= (p.Glu1027=) n.1916G= c.1678G= (p.Glu560=) c.1987G= (p.Glu663=) n.3024G= | |
16 | g.47698544G>T | CA396101622 | PHKB | c.*1674G>T (n.*1674G>T) c.*728G>T (n.*728G>T) c.3100G>T (p.Glu1034Ter) c.114G>T c.3079G>T (p.Glu1027Ter) n.1916G>T c.1678G>T (p.Glu560Ter) c.1987G>T (p.Glu663Ter) n.3024G>T | gnomAD v4 |
16 | g.47698545A>C | CA396101624 | PHKB | c.*1675A>C (n.*1675A>C) c.*729A>C (n.*729A>C) c.3101A>C (p.Glu1034Ala) c.115A>C c.3080A>C (p.Glu1027Ala) n.1917A>C c.1679A>C (p.Glu560Ala) c.1988A>C (p.Glu663Ala) n.3025A>C | |
16 | g.47698545A>G | CA396101625 | PHKB | c.*1675A>G (n.*1675A>G) c.*729A>G (n.*729A>G) c.3101A>G (p.Glu1034Gly) c.115A>G c.3080A>G (p.Glu1027Gly) n.1917A>G c.1679A>G (p.Glu560Gly) c.1988A>G (p.Glu663Gly) n.3025A>G | gnomAD v4 |
16 | g.47698545A>T | CA396101626 | PHKB | c.*1675A>T (n.*1675A>T) c.*729A>T (n.*729A>T) c.3101A>T (p.Glu1034Val) c.115A>T c.3080A>T (p.Glu1027Val) n.1917A>T c.1679A>T (p.Glu560Val) c.1988A>T (p.Glu663Val) n.3025A>T | gnomAD v4 |
16 | g.47698546A= | CA2220493567 | PHKB | c.*1676A= (n.*1676A=) c.*730A= (n.*730A=) c.3102A= (p.Glu1034=) c.116A= c.3081A= (p.Glu1027=) n.1918A= c.1680A= (p.Glu560=) c.1989A= (p.Glu663=) n.3026A= | |
16 | g.47698546A>C | CA396101627 | PHKB | c.*1676A>C (n.*1676A>C) c.*730A>C (n.*730A>C) c.3102A>C (p.Glu1034Asp) c.116A>C c.3081A>C (p.Glu1027Asp) n.1918A>C c.1680A>C (p.Glu560Asp) c.1989A>C (p.Glu663Asp) n.3026A>C | |
16 | g.47698546A>G | CA495361486 | PHKB | c.*1676A>G (n.*1676A>G) c.*730A>G (n.*730A>G) c.3102A>G (p.Glu1034=) c.116A>G c.3081A>G (p.Glu1027=) n.1918A>G c.1680A>G (p.Glu560=) c.1989A>G (p.Glu663=) n.3026A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698546A>T | CA396101628 | PHKB | c.*1676A>T (n.*1676A>T) c.*730A>T (n.*730A>T) c.3102A>T (p.Glu1034Asp) c.116A>T c.3081A>T (p.Glu1027Asp) n.1918A>T c.1680A>T (p.Glu560Asp) c.1989A>T (p.Glu663Asp) n.3026A>T | |
16 | g.47698547T>A | CA396101629 | PHKB | c.*1677T>A (n.*1677T>A) c.*731T>A (n.*731T>A) c.3103T>A (p.Phe1035Ile) c.117T>A c.3082T>A (p.Phe1028Ile) n.1919T>A c.1681T>A (p.Phe561Ile) c.1990T>A (p.Phe664Ile) n.3027T>A | |
16 | g.47698547T>C | CA396101630 | PHKB | c.*1677T>C (n.*1677T>C) c.*731T>C (n.*731T>C) c.3103T>C (p.Phe1035Leu) c.117T>C c.3082T>C (p.Phe1028Leu) n.1919T>C c.1681T>C (p.Phe561Leu) c.1990T>C (p.Phe664Leu) n.3027T>C | |
16 | g.47698547T>G | CA396101631 | PHKB | c.*1677T>G (n.*1677T>G) c.*731T>G (n.*731T>G) c.3103T>G (p.Phe1035Val) c.117T>G c.3082T>G (p.Phe1028Val) n.1919T>G c.1681T>G (p.Phe561Val) c.1990T>G (p.Phe664Val) n.3027T>G | |
16 | g.47698548T>A | CA396101632 | PHKB | c.*1678T>A (n.*1678T>A) c.*732T>A (n.*732T>A) c.3104T>A (p.Phe1035Tyr) c.118T>A c.3083T>A (p.Phe1028Tyr) n.1920T>A c.1682T>A (p.Phe561Tyr) c.1991T>A (p.Phe664Tyr) n.3028T>A | |
16 | g.47698548T>C | CA396101633 | PHKB | c.*1678T>C (n.*1678T>C) c.*732T>C (n.*732T>C) c.3104T>C (p.Phe1035Ser) c.118T>C c.3083T>C (p.Phe1028Ser) n.1920T>C c.1682T>C (p.Phe561Ser) c.1991T>C (p.Phe664Ser) n.3028T>C | |
16 | g.47698548T>G | CA396101634 | PHKB | c.*1678T>G (n.*1678T>G) c.*732T>G (n.*732T>G) c.3104T>G (p.Phe1035Cys) c.118T>G c.3083T>G (p.Phe1028Cys) n.1920T>G c.1682T>G (p.Phe561Cys) c.1991T>G (p.Phe664Cys) n.3028T>G | |
16 | g.47698549T>A | CA396101636 | PHKB | c.*1679T>A (n.*1679T>A) c.*733T>A (n.*733T>A) c.3105T>A (p.Phe1035Leu) c.119T>A c.3084T>A (p.Phe1028Leu) n.1921T>A c.1683T>A (p.Phe561Leu) c.1992T>A (p.Phe664Leu) n.3029T>A | |
16 | g.47698549T>C | CA495361487 | PHKB | c.*1679T>C (n.*1679T>C) c.*733T>C (n.*733T>C) c.3105T>C (p.Phe1035=) c.119T>C c.3084T>C (p.Phe1028=) n.1921T>C c.1683T>C (p.Phe561=) c.1992T>C (p.Phe664=) n.3029T>C | |
16 | g.47698549T>G | CA396101635 | PHKB | c.*1679T>G (n.*1679T>G) c.*733T>G (n.*733T>G) c.3105T>G (p.Phe1035Leu) c.119T>G c.3084T>G (p.Phe1028Leu) n.1921T>G c.1683T>G (p.Phe561Leu) c.1992T>G (p.Phe664Leu) n.3029T>G | |
16 | g.47698550C>A | CA396101637 | PHKB | c.*1680C>A (n.*1680C>A) c.*734C>A (n.*734C>A) c.3106C>A (p.Gln1036Lys) c.120C>A c.3085C>A (p.Gln1029Lys) n.1922C>A c.1684C>A (p.Gln562Lys) c.1993C>A (p.Gln665Lys) n.3030C>A | gnomAD v3 gnomAD v4 |
16 | g.47698550C>G | CA396101638 | PHKB | c.*1680C>G (n.*1680C>G) c.*734C>G (n.*734C>G) c.3106C>G (p.Gln1036Glu) c.120C>G c.3085C>G (p.Gln1029Glu) n.1922C>G c.1684C>G (p.Gln562Glu) c.1993C>G (p.Gln665Glu) n.3030C>G | |
16 | g.47698550C>T | CA396101639 | PHKB | c.*1680C>T (n.*1680C>T) c.*734C>T (n.*734C>T) c.3106C>T (p.Gln1036Ter) c.120C>T c.3085C>T (p.Gln1029Ter) n.1922C>T c.1684C>T (p.Gln562Ter) c.1993C>T (p.Gln665Ter) n.3030C>T | |
16 | g.47698551A= | CA2220493568 | PHKB | c.*1681A= (n.*1681A=) c.*735A= (n.*735A=) c.3107A= (p.Gln1036=) c.121A= c.3086A= (p.Gln1029=) n.1923A= c.1685A= (p.Gln562=) c.1994A= (p.Gln665=) n.3031A= | |
16 | g.47698551A>C | CA396101640 | PHKB | c.*1681A>C (n.*1681A>C) c.*735A>C (n.*735A>C) c.3107A>C (p.Gln1036Pro) c.121A>C c.3086A>C (p.Gln1029Pro) n.1923A>C c.1685A>C (p.Gln562Pro) c.1994A>C (p.Gln665Pro) n.3031A>C | |
16 | g.47698551A>G | CA8041430 | PHKB | c.*1681A>G (n.*1681A>G) c.*735A>G (n.*735A>G) c.3107A>G (p.Gln1036Arg) c.121A>G c.3086A>G (p.Gln1029Arg) n.1923A>G c.1685A>G (p.Gln562Arg) c.1994A>G (p.Gln665Arg) n.3031A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698551A>T | CA396101641 | PHKB | c.*1681A>T (n.*1681A>T) c.*735A>T (n.*735A>T) c.3107A>T (p.Gln1036Leu) c.121A>T c.3086A>T (p.Gln1029Leu) n.1923A>T c.1685A>T (p.Gln562Leu) c.1994A>T (p.Gln665Leu) n.3031A>T | |
16 | g.47698552A= | CA2220493569 | PHKB | c.*1682A= (n.*1682A=) c.*736A= (n.*736A=) c.3108A= (p.Gln1036=) c.122A= c.3087A= (p.Gln1029=) n.1924A= c.1686A= (p.Gln562=) c.1995A= (p.Gln665=) n.3032A= | |
16 | g.47698552A>C | CA396101642 | PHKB | c.*1682A>C (n.*1682A>C) c.*736A>C (n.*736A>C) c.3108A>C (p.Gln1036His) c.122A>C c.3087A>C (p.Gln1029His) n.1924A>C c.1686A>C (p.Gln562His) c.1995A>C (p.Gln665His) n.3032A>C | |
16 | g.47698552A>G | CA8041431 | PHKB | c.*1682A>G (n.*1682A>G) c.*736A>G (n.*736A>G) c.3108A>G (p.Gln1036=) c.122A>G c.3087A>G (p.Gln1029=) n.1924A>G c.1686A>G (p.Gln562=) c.1995A>G (p.Gln665=) n.3032A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698552A>T | CA396101643 | PHKB | c.*1682A>T (n.*1682A>T) c.*736A>T (n.*736A>T) c.3108A>T (p.Gln1036His) c.122A>T c.3087A>T (p.Gln1029His) n.1924A>T c.1686A>T (p.Gln562His) c.1995A>T (p.Gln665His) n.3032A>T | |
16 | g.47698553A>C | CA396101644 | PHKB | c.*1683A>C (n.*1683A>C) c.*737A>C (n.*737A>C) c.3109A>C (p.Lys1037Gln) c.123A>C c.3088A>C (p.Lys1030Gln) n.1925A>C c.1687A>C (p.Lys563Gln) c.1996A>C (p.Lys666Gln) n.3033A>C | |
16 | g.47698553A>G | CA396101645 | PHKB | c.*1683A>G (n.*1683A>G) c.*737A>G (n.*737A>G) c.3109A>G (p.Lys1037Glu) c.123A>G c.3088A>G (p.Lys1030Glu) n.1925A>G c.1687A>G (p.Lys563Glu) c.1996A>G (p.Lys666Glu) n.3033A>G | |
16 | g.47698553A>T | CA396101646 | PHKB | c.*1683A>T (n.*1683A>T) c.*737A>T (n.*737A>T) c.3109A>T (p.Lys1037Ter) c.123A>T c.3088A>T (p.Lys1030Ter) n.1925A>T c.1687A>T (p.Lys563Ter) c.1996A>T (p.Lys666Ter) n.3033A>T | |
16 | g.47698554A>C | CA396101648 | PHKB | c.*1684A>C (n.*1684A>C) c.*738A>C (n.*738A>C) c.3110A>C (p.Lys1037Thr) c.124A>C c.3089A>C (p.Lys1030Thr) n.1926A>C c.1688A>C (p.Lys563Thr) c.1997A>C (p.Lys666Thr) n.3034A>C | |
16 | g.47698554A>G | CA396101649 | PHKB | c.*1684A>G (n.*1684A>G) c.*738A>G (n.*738A>G) c.3110A>G (p.Lys1037Arg) c.124A>G c.3089A>G (p.Lys1030Arg) n.1926A>G c.1688A>G (p.Lys563Arg) c.1997A>G (p.Lys666Arg) n.3034A>G | |
16 | g.47698554A>T | CA396101647 | PHKB | c.*1684A>T (n.*1684A>T) c.*738A>T (n.*738A>T) c.3110A>T (p.Lys1037Ile) c.124A>T c.3089A>T (p.Lys1030Ile) n.1926A>T c.1688A>T (p.Lys563Ile) c.1997A>T (p.Lys666Ile) n.3034A>T | |
16 | g.47698555A>C | CA396101651 | PHKB | c.*1685A>C (n.*1685A>C) c.*739A>C (n.*739A>C) c.3111A>C (p.Lys1037Asn) c.125A>C c.3090A>C (p.Lys1030Asn) n.1927A>C c.1689A>C (p.Lys563Asn) c.1998A>C (p.Lys666Asn) n.3035A>C | |
16 | g.47698555A>G | CA495361488 | PHKB | c.*1685A>G (n.*1685A>G) c.*739A>G (n.*739A>G) c.3111A>G (p.Lys1037=) c.125A>G c.3090A>G (p.Lys1030=) n.1927A>G c.1689A>G (p.Lys563=) c.1998A>G (p.Lys666=) n.3035A>G | |
16 | g.47698555A>T | CA396101650 | PHKB | c.*1685A>T (n.*1685A>T) c.*739A>T (n.*739A>T) c.3111A>T (p.Lys1037Asn) c.125A>T c.3090A>T (p.Lys1030Asn) n.1927A>T c.1689A>T (p.Lys563Asn) c.1998A>T (p.Lys666Asn) n.3035A>T | |
16 | g.47698556G>A | CA396101652 | PHKB | c.*1686G>A (n.*1686G>A) c.*740G>A (n.*740G>A) c.3112G>A (p.Asp1038Asn) c.126G>A c.3091G>A (p.Asp1031Asn) n.1928G>A c.1690G>A (p.Asp564Asn) c.1999G>A (p.Asp667Asn) n.3036G>A | |
16 | g.47698556G>C | CA396101653 | PHKB | c.*1686G>C (n.*1686G>C) c.*740G>C (n.*740G>C) c.3112G>C (p.Asp1038His) c.126G>C c.3091G>C (p.Asp1031His) n.1928G>C c.1690G>C (p.Asp564His) c.1999G>C (p.Asp667His) n.3036G>C | |
16 | g.47698556G>T | CA396101654 | PHKB | c.*1686G>T (n.*1686G>T) c.*740G>T (n.*740G>T) c.3112G>T (p.Asp1038Tyr) c.126G>T c.3091G>T (p.Asp1031Tyr) n.1928G>T c.1690G>T (p.Asp564Tyr) c.1999G>T (p.Asp667Tyr) n.3036G>T | gnomAD v4 |
16 | g.47698557A= | CA2220493570 | PHKB | c.*1687A= (n.*1687A=) c.*741A= (n.*741A=) c.3113A= (p.Asp1038=) c.127A= c.3092A= (p.Asp1031=) n.1929A= c.1691A= (p.Asp564=) c.2000A= (p.Asp667=) n.3037A= | |
16 | g.47698557A>C | CA396101655 | PHKB | c.*1687A>C (n.*1687A>C) c.*741A>C (n.*741A>C) c.3113A>C (p.Asp1038Ala) c.127A>C c.3092A>C (p.Asp1031Ala) n.1929A>C c.1691A>C (p.Asp564Ala) c.2000A>C (p.Asp667Ala) n.3037A>C | |
16 | g.47698557A>G | CA396101656 | PHKB | c.*1687A>G (n.*1687A>G) c.*741A>G (n.*741A>G) c.3113A>G (p.Asp1038Gly) c.127A>G c.3092A>G (p.Asp1031Gly) n.1929A>G c.1691A>G (p.Asp564Gly) c.2000A>G (p.Asp667Gly) n.3037A>G | COSMIC COSMIC |
16 | g.47698557A>T | CA396101657 | PHKB | c.*1687A>T (n.*1687A>T) c.*741A>T (n.*741A>T) c.3113A>T (p.Asp1038Val) c.127A>T c.3092A>T (p.Asp1031Val) n.1929A>T c.1691A>T (p.Asp564Val) c.2000A>T (p.Asp667Val) n.3037A>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.47698558T>A | CA396101658 | PHKB | c.*1688T>A (n.*1688T>A) c.*742T>A (n.*742T>A) c.3114T>A (p.Asp1038Glu) c.128T>A c.3093T>A (p.Asp1031Glu) n.1930T>A c.1692T>A (p.Asp564Glu) c.2001T>A (p.Asp667Glu) n.3038T>A | gnomAD v3 gnomAD v4 |
16 | g.47698558T>C | CA495361489 | PHKB | c.*1688T>C (n.*1688T>C) c.*742T>C (n.*742T>C) c.3114T>C (p.Asp1038=) c.128T>C c.3093T>C (p.Asp1031=) n.1930T>C c.1692T>C (p.Asp564=) c.2001T>C (p.Asp667=) n.3038T>C | gnomAD v4 |
16 | g.47698558T>G | CA396101659 | PHKB | c.*1688T>G (n.*1688T>G) c.*742T>G (n.*742T>G) c.3114T>G (p.Asp1038Glu) c.128T>G c.3093T>G (p.Asp1031Glu) n.1930T>G c.1692T>G (p.Asp564Glu) c.2001T>G (p.Asp667Glu) n.3038T>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698558T= | CA2220493571 | PHKB | c.*1688T= (n.*1688T=) c.*742T= (n.*742T=) c.3114T= (p.Asp1038=) c.128T= c.3093T= (p.Asp1031=) n.1930T= c.1692T= (p.Asp564=) c.2001T= (p.Asp667=) n.3038T= | |
16 | g.47698559del | CA2633050214 | PHKB | c.*1689del (n.*1689del) c.*743del (n.*743del) c.3115del (p.Gln1039ArgfsTer4) c.129del c.3094del (p.Gln1032ArgfsTer4) n.1931del c.1693del (p.Gln565ArgfsTer4) c.2002del (p.Gln668ArgfsTer4) n.3039del | gnomAD v4 |
16 | g.47698559C>A | CA396101660 | PHKB | c.*1689C>A (n.*1689C>A) c.*743C>A (n.*743C>A) c.3115C>A (p.Gln1039Lys) c.129C>A c.3094C>A (p.Gln1032Lys) n.1931C>A c.1693C>A (p.Gln565Lys) c.2002C>A (p.Gln668Lys) n.3039C>A | gnomAD v4 |
16 | g.47698559C>G | CA396101661 | PHKB | c.*1689C>G (n.*1689C>G) c.*743C>G (n.*743C>G) c.3115C>G (p.Gln1039Glu) c.129C>G c.3094C>G (p.Gln1032Glu) n.1931C>G c.1693C>G (p.Gln565Glu) c.2002C>G (p.Gln668Glu) n.3039C>G | gnomAD v4 |
16 | g.47698559C>T | CA396101662 | PHKB | c.*1689C>T (n.*1689C>T) c.*743C>T (n.*743C>T) c.3115C>T (p.Gln1039Ter) c.129C>T c.3094C>T (p.Gln1032Ter) n.1931C>T c.1693C>T (p.Gln565Ter) c.2002C>T (p.Gln668Ter) n.3039C>T | |
16 | g.47698560A= | CA2220493572 | PHKB | c.*1690A= (n.*1690A=) c.*744A= (n.*744A=) c.3116A= (p.Gln1039=) c.130A= c.3095A= (p.Gln1032=) n.1932A= c.1694A= (p.Gln565=) c.2003A= (p.Gln668=) n.3040A= | |
16 | g.47698560A>C | CA8041432 | PHKB | c.*1690A>C (n.*1690A>C) c.*744A>C (n.*744A>C) c.3116A>C (p.Gln1039Pro) c.130A>C c.3095A>C (p.Gln1032Pro) n.1932A>C c.1694A>C (p.Gln565Pro) c.2003A>C (p.Gln668Pro) n.3040A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.47698560A>G | CA396101664 | PHKB | c.*1690A>G (n.*1690A>G) c.*744A>G (n.*744A>G) c.3116A>G (p.Gln1039Arg) c.130A>G c.3095A>G (p.Gln1032Arg) n.1932A>G c.1694A>G (p.Gln565Arg) c.2003A>G (p.Gln668Arg) n.3040A>G | gnomAD v4 |
16 | g.47698560A>T | CA396101663 | PHKB | c.*1690A>T (n.*1690A>T) c.*744A>T (n.*744A>T) c.3116A>T (p.Gln1039Leu) c.130A>T c.3095A>T (p.Gln1032Leu) n.1932A>T c.1694A>T (p.Gln565Leu) c.2003A>T (p.Gln668Leu) n.3040A>T | |
16 | g.47698561G>A | CA495361490 | PHKB | c.*1691G>A (n.*1691G>A) c.*745G>A (n.*745G>A) c.3117G>A (p.Gln1039=) c.131G>A c.3096G>A (p.Gln1032=) n.1933G>A c.1695G>A (p.Gln565=) c.2004G>A (p.Gln668=) n.3041G>A | |
16 | g.47698561G>C | CA396101665 | PHKB | c.*1691G>C (n.*1691G>C) c.*745G>C (n.*745G>C) c.3117G>C (p.Gln1039His) c.131G>C c.3096G>C (p.Gln1032His) n.1933G>C c.1695G>C (p.Gln565His) c.2004G>C (p.Gln668His) n.3041G>C | gnomAD v4 |
16 | g.47698561G>T | CA396101666 | PHKB | c.*1691G>T (n.*1691G>T) c.*745G>T (n.*745G>T) c.3117G>T (p.Gln1039His) c.131G>T c.3096G>T (p.Gln1032His) n.1933G>T c.1695G>T (p.Gln565His) c.2004G>T (p.Gln668His) n.3041G>T | |
16 | g.47698562A= | CA2220493573 | PHKB | c.*1692A= (n.*1692A=) c.*746A= (n.*746A=) c.3118A= (p.Ser1040=) c.132A= c.3097A= (p.Ser1033=) n.1934A= c.1696A= (p.Ser566=) c.2005A= (p.Ser669=) n.3042A= | |
16 | g.47698562A>C | CA396101667 | PHKB | c.*1692A>C (n.*1692A>C) c.*746A>C (n.*746A>C) c.3118A>C (p.Ser1040Arg) c.132A>C c.3097A>C (p.Ser1033Arg) n.1934A>C c.1696A>C (p.Ser566Arg) c.2005A>C (p.Ser669Arg) n.3042A>C | gnomAD v4 |
16 | g.47698562A>G | CA280739869 | PHKB | c.*1692A>G (n.*1692A>G) c.*746A>G (n.*746A>G) c.3118A>G (p.Ser1040Gly) c.132A>G c.3097A>G (p.Ser1033Gly) n.1934A>G c.1696A>G (p.Ser566Gly) c.2005A>G (p.Ser669Gly) n.3042A>G | dbSNP |
16 | g.47698562A>T | CA396101668 | PHKB | c.*1692A>T (n.*1692A>T) c.*746A>T (n.*746A>T) c.3118A>T (p.Ser1040Cys) c.132A>T c.3097A>T (p.Ser1033Cys) n.1934A>T c.1696A>T (p.Ser566Cys) c.2005A>T (p.Ser669Cys) n.3042A>T | gnomAD v4 |
16 | g.47698563G>A | CA396101669 | PHKB | c.*1693G>A (n.*1693G>A) c.*747G>A (n.*747G>A) c.3119G>A (p.Ser1040Asn) c.133G>A c.3098G>A (p.Ser1033Asn) n.1935G>A c.1697G>A (p.Ser566Asn) c.2006G>A (p.Ser669Asn) n.3043G>A | gnomAD v4 |
16 | g.47698563G>C | CA396101670 | PHKB | c.*1693G>C (n.*1693G>C) c.*747G>C (n.*747G>C) c.3119G>C (p.Ser1040Thr) c.133G>C c.3098G>C (p.Ser1033Thr) n.1935G>C c.1697G>C (p.Ser566Thr) c.2006G>C (p.Ser669Thr) n.3043G>C | COSMIC |
16 | g.47698563G>T | CA396101671 | PHKB | c.*1693G>T (n.*1693G>T) c.*747G>T (n.*747G>T) c.3119G>T (p.Ser1040Ile) c.133G>T c.3098G>T (p.Ser1033Ile) n.1935G>T c.1697G>T (p.Ser566Ile) c.2006G>T (p.Ser669Ile) n.3043G>T | gnomAD v4 |
16 | g.47698564T>A | CA396101672 | PHKB | c.*1694T>A (n.*1694T>A) c.*748T>A (n.*748T>A) c.3120T>A (p.Ser1040Arg) c.134T>A c.3099T>A (p.Ser1033Arg) n.1936T>A c.1698T>A (p.Ser566Arg) c.2007T>A (p.Ser669Arg) n.3044T>A | |
16 | g.47698564T>C | CA495361491 | PHKB | c.*1694T>C (n.*1694T>C) c.*748T>C (n.*748T>C) c.3120T>C (p.Ser1040=) c.134T>C c.3099T>C (p.Ser1033=) n.1936T>C c.1698T>C (p.Ser566=) c.2007T>C (p.Ser669=) n.3044T>C | |
16 | g.47698564T>G | CA396101673 | PHKB | c.*1694T>G (n.*1694T>G) c.*748T>G (n.*748T>G) c.3120T>G (p.Ser1040Arg) c.134T>G c.3099T>G (p.Ser1033Arg) n.1936T>G c.1698T>G (p.Ser566Arg) c.2007T>G (p.Ser669Arg) n.3044T>G | |
16 | g.47698565C>A | CA495361492 | PHKB | c.*1695C>A (n.*1695C>A) c.*749C>A (n.*749C>A) c.3121C>A (p.Arg1041=) c.135C>A c.3100C>A (p.Arg1034=) n.1937C>A c.1699C>A (p.Arg567=) c.2008C>A (p.Arg670=) n.3045C>A | gnomAD v4 |
16 | g.47698565C= | CA2220493574 | PHKB | c.*1695C= (n.*1695C=) c.*749C= (n.*749C=) c.3121C= (p.Arg1041=) c.135C= c.3100C= (p.Arg1034=) n.1937C= c.1699C= (p.Arg567=) c.2008C= (p.Arg670=) n.3045C= | |
16 | g.47698565C>G | CA396101674 | PHKB | c.*1695C>G (n.*1695C>G) c.*749C>G (n.*749C>G) c.3121C>G (p.Arg1041Gly) c.135C>G c.3100C>G (p.Arg1034Gly) n.1937C>G c.1699C>G (p.Arg567Gly) c.2008C>G (p.Arg670Gly) n.3045C>G | |
16 | g.47698565C>T | CA8041433 | PHKB | c.*1695C>T (n.*1695C>T) c.*749C>T (n.*749C>T) c.3121C>T (p.Arg1041Trp) c.135C>T c.3100C>T (p.Arg1034Trp) n.1937C>T c.1699C>T (p.Arg567Trp) c.2008C>T (p.Arg670Trp) n.3045C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698566G>A | CA8041434 | PHKB | c.*1696G>A (n.*1696G>A) c.*750G>A (n.*750G>A) c.3122G>A (p.Arg1041Gln) c.136G>A c.3101G>A (p.Arg1034Gln) n.1938G>A c.1700G>A (p.Arg567Gln) c.2009G>A (p.Arg670Gln) n.3046G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698566G>C | CA396101676 | PHKB | c.*1696G>C (n.*1696G>C) c.*750G>C (n.*750G>C) c.3122G>C (p.Arg1041Pro) c.136G>C c.3101G>C (p.Arg1034Pro) n.1938G>C c.1700G>C (p.Arg567Pro) c.2009G>C (p.Arg670Pro) n.3046G>C | |
16 | g.47698566G= | CA2220493575 | PHKB | c.*1696G= (n.*1696G=) c.*750G= (n.*750G=) c.3122G= (p.Arg1041=) c.136G= c.3101G= (p.Arg1034=) n.1938G= c.1700G= (p.Arg567=) c.2009G= (p.Arg670=) n.3046G= | |
16 | g.47698566G>T | CA396101675 | PHKB | c.*1696G>T (n.*1696G>T) c.*750G>T (n.*750G>T) c.3122G>T (p.Arg1041Leu) c.136G>T c.3101G>T (p.Arg1034Leu) n.1938G>T c.1700G>T (p.Arg567Leu) c.2009G>T (p.Arg670Leu) n.3046G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698567G>A | CA495361493 | PHKB | c.*1697G>A (n.*1697G>A) c.*751G>A (n.*751G>A) c.3123G>A (p.Arg1041=) c.137G>A c.3102G>A (p.Arg1034=) n.1939G>A c.1701G>A (p.Arg567=) c.2010G>A (p.Arg670=) n.3047G>A | gnomAD v4 |
16 | g.47698567G>C | CA495361494 | PHKB | c.*1697G>C (n.*1697G>C) c.*751G>C (n.*751G>C) c.3123G>C (p.Arg1041=) c.137G>C c.3102G>C (p.Arg1034=) n.1939G>C c.1701G>C (p.Arg567=) c.2010G>C (p.Arg670=) n.3047G>C | |
16 | g.47698567G= | CA2220493577 | PHKB | c.*1697G= (n.*1697G=) c.*751G= (n.*751G=) c.3123G= (p.Arg1041=) c.137G= c.3102G= (p.Arg1034=) n.1939G= c.1701G= (p.Arg567=) c.2010G= (p.Arg670=) n.3047G= | |
16 | g.47698567G>T | CA8041435 | PHKB | c.*1697G>T (n.*1697G>T) c.*751G>T (n.*751G>T) c.3123G>T (p.Arg1041=) c.137G>T c.3102G>T (p.Arg1034=) n.1939G>T c.1701G>T (p.Arg567=) c.2010G>T (p.Arg670=) n.3047G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.47698567_47698568delinsGC | CA2220493576 | PHKB | c.*1697_*1698delinsGC (n.*1697_*1698delinsGC) c.*751_*752delinsGC (n.*751_*752delinsGC) c.3123_3124delinsGC (p.Arg1041=) c.137_138delinsGC c.3102_3103delinsGC (p.Arg1034=) n.1939_1940delinsGC c.1701_1702delinsGC (p.Arg567=) c.2010_2011delinsGC (p.Arg670=) n.3047_3048delinsGC | |
16 | g.47698568del | CA8041436 | PHKB | c.*1698del (n.*1698del) c.*752del (n.*752del) c.3124del (p.Leu1042Ter) c.138del c.3103del (p.Leu1035Ter) n.1940del c.1702del (p.Leu568Ter) c.2011del (p.Leu671Ter) n.3048del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.47698568C>A | CA396101677 | PHKB | c.*1698C>A (n.*1698C>A) c.*752C>A (n.*752C>A) c.3124C>A (p.Leu1042Ile) c.138C>A c.3103C>A (p.Leu1035Ile) n.1940C>A c.1702C>A (p.Leu568Ile) c.2011C>A (p.Leu671Ile) n.3048C>A | gnomAD v3 gnomAD v4 |
16 | g.47698568C= | CA2220493578 | PHKB | c.*1698C= (n.*1698C=) c.*752C= (n.*752C=) c.3124C= (p.Leu1042=) c.138C= c.3103C= (p.Leu1035=) n.1940C= c.1702C= (p.Leu568=) c.2011C= (p.Leu671=) n.3048C= | |
16 | g.47698568C>G | CA280739874 | PHKB | c.*1698C>G (n.*1698C>G) c.*752C>G (n.*752C>G) c.3124C>G (p.Leu1042Val) c.138C>G c.3103C>G (p.Leu1035Val) n.1940C>G c.1702C>G (p.Leu568Val) c.2011C>G (p.Leu671Val) n.3048C>G | dbSNP |
16 | g.47698568C>T | CA495361495 | PHKB | c.*1698C>T (n.*1698C>T) c.*752C>T (n.*752C>T) c.3124C>T (p.Leu1042=) c.138C>T c.3103C>T (p.Leu1035=) n.1940C>T c.1702C>T (p.Leu568=) c.2011C>T (p.Leu671=) n.3048C>T | gnomAD v3 gnomAD v4 |
16 | g.47698569T>A | CA396101678 | PHKB | c.*1699T>A (n.*1699T>A) c.*753T>A (n.*753T>A) c.3125T>A (p.Leu1042Gln) c.139T>A c.3104T>A (p.Leu1035Gln) n.1941T>A c.1703T>A (p.Leu568Gln) c.2012T>A (p.Leu671Gln) n.3049T>A | gnomAD v4 |
16 | g.47698569T>C | CA280739876 | PHKB | c.*1699T>C (n.*1699T>C) c.*753T>C (n.*753T>C) c.3125T>C (p.Leu1042Pro) c.139T>C c.3104T>C (p.Leu1035Pro) n.1941T>C c.1703T>C (p.Leu568Pro) c.2012T>C (p.Leu671Pro) n.3049T>C | dbSNP gnomAD v4 |
16 | g.47698569T>G | CA396101679 | PHKB | c.*1699T>G (n.*1699T>G) c.*753T>G (n.*753T>G) c.3125T>G (p.Leu1042Arg) c.139T>G c.3104T>G (p.Leu1035Arg) n.1941T>G c.1703T>G (p.Leu568Arg) c.2012T>G (p.Leu671Arg) n.3049T>G | |
16 | g.47698569T= | CA2220493579 | PHKB | c.*1699T= (n.*1699T=) c.*753T= (n.*753T=) c.3125T= (p.Leu1042=) c.139T= c.3104T= (p.Leu1035=) n.1941T= c.1703T= (p.Leu568=) c.2012T= (p.Leu671=) n.3049T= | |
16 | g.47698570A>C | CA495361496 | PHKB | c.*1700A>C (n.*1700A>C) c.*754A>C (n.*754A>C) c.3126A>C (p.Leu1042=) c.140A>C c.3105A>C (p.Leu1035=) n.1942A>C c.1704A>C (p.Leu568=) c.2013A>C (p.Leu671=) n.3050A>C | |
16 | g.47698570A>G | CA495361497 | PHKB | c.*1700A>G (n.*1700A>G) c.*754A>G (n.*754A>G) c.3126A>G (p.Leu1042=) c.140A>G c.3105A>G (p.Leu1035=) n.1942A>G c.1704A>G (p.Leu568=) c.2013A>G (p.Leu671=) n.3050A>G | |
16 | g.47698570A>T | CA495361498 | PHKB | c.*1700A>T (n.*1700A>T) c.*754A>T (n.*754A>T) c.3126A>T (p.Leu1042=) c.140A>T c.3105A>T (p.Leu1035=) n.1942A>T c.1704A>T (p.Leu568=) c.2013A>T (p.Leu671=) n.3050A>T | |
16 | g.47698572del | CA2633050215 | PHKB | c.*1702del (n.*1702del) c.*756del (n.*756del) c.3128del (p.Lys1043ArgfsTer9) c.142del c.3107del (p.Lys1036ArgfsTer9) n.1944del c.1706del (p.Lys569ArgfsTer9) c.2015del (p.Lys672ArgfsTer9) n.3052del | gnomAD v4 |
16 | g.47698571A= | CA2220493580 | PHKB | c.*1701A= (n.*1701A=) c.*755A= (n.*755A=) c.3127A= (p.Lys1043=) c.141A= c.3106A= (p.Lys1036=) n.1943A= c.1705A= (p.Lys569=) c.2014A= (p.Lys672=) n.3051A= | |
16 | g.47698571A>C | CA396101682 | PHKB | c.*1701A>C (n.*1701A>C) c.*755A>C (n.*755A>C) c.3127A>C (p.Lys1043Gln) c.141A>C c.3106A>C (p.Lys1036Gln) n.1943A>C c.1705A>C (p.Lys569Gln) c.2014A>C (p.Lys672Gln) n.3051A>C | gnomAD v4 |
16 | g.47698571A>G | CA396101680 | PHKB | c.*1701A>G (n.*1701A>G) c.*755A>G (n.*755A>G) c.3127A>G (p.Lys1043Glu) c.141A>G c.3106A>G (p.Lys1036Glu) n.1943A>G c.1705A>G (p.Lys569Glu) c.2014A>G (p.Lys672Glu) n.3051A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.47698571A>T | CA396101681 | PHKB | c.*1701A>T (n.*1701A>T) c.*755A>T (n.*755A>T) c.3127A>T (p.Lys1043Ter) c.141A>T c.3106A>T (p.Lys1036Ter) n.1943A>T c.1705A>T (p.Lys569Ter) c.2014A>T (p.Lys672Ter) n.3051A>T | |
16 | g.47698572A>C | CA396101683 | PHKB | c.*1702A>C (n.*1702A>C) c.*756A>C (n.*756A>C) c.3128A>C (p.Lys1043Thr) c.142A>C c.3107A>C (p.Lys1036Thr) n.1944A>C c.1706A>C (p.Lys569Thr) c.2015A>C (p.Lys672Thr) n.3052A>C | |
16 | g.47698572A>G | CA396101684 | PHKB | c.*1702A>G (n.*1702A>G) c.*756A>G (n.*756A>G) c.3128A>G (p.Lys1043Arg) c.142A>G c.3107A>G (p.Lys1036Arg) n.1944A>G c.1706A>G (p.Lys569Arg) c.2015A>G (p.Lys672Arg) n.3052A>G | |
16 | g.47698572A>T | CA396101685 | PHKB | c.*1702A>T (n.*1702A>T) c.*756A>T (n.*756A>T) c.3128A>T (p.Lys1043Met) c.142A>T c.3107A>T (p.Lys1036Met) n.1944A>T c.1706A>T (p.Lys569Met) c.2015A>T (p.Lys672Met) n.3052A>T | |
16 | g.47698573G>A | CA495361499 | PHKB | c.*1703G>A (n.*1703G>A) c.*757G>A (n.*757G>A) c.3129G>A (p.Lys1043=) c.143G>A c.3108G>A (p.Lys1036=) n.1945G>A c.1707G>A (p.Lys569=) c.2016G>A (p.Lys672=) n.3053G>A | gnomAD v3 gnomAD v4 |
16 | g.47698573G>C | CA396101686 | PHKB | c.*1703G>C (n.*1703G>C) c.*757G>C (n.*757G>C) c.3129G>C (p.Lys1043Asn) c.143G>C c.3108G>C (p.Lys1036Asn) n.1945G>C c.1707G>C (p.Lys569Asn) c.2016G>C (p.Lys672Asn) n.3053G>C | gnomAD v4 |
16 | g.47698573G>T | CA396101687 | PHKB | c.*1703G>T (n.*1703G>T) c.*757G>T (n.*757G>T) c.3129G>T (p.Lys1043Asn) c.143G>T c.3108G>T (p.Lys1036Asn) n.1945G>T c.1707G>T (p.Lys569Asn) c.2016G>T (p.Lys672Asn) n.3053G>T | gnomAD v4 |
16 | g.47698573_47698574del | CA2633050216 | PHKB | c.*1703_*1704del (n.*1703_*1704del) c.*757_*758del (n.*757_*758del) c.3129_3130del (p.Glu1044AsnfsTer2) c.143_144del c.3108_3109del (p.Glu1037AsnfsTer2) n.1945_1946del c.1707_1708del (p.Glu570AsnfsTer2) c.2016_2017del (p.Glu673AsnfsTer2) n.3053_3054del | gnomAD v4 |
16 | g.47698574G>A | CA8041437 | PHKB | c.*1704G>A (n.*1704G>A) c.*758G>A (n.*758G>A) c.3130G>A (p.Glu1044Lys) c.144G>A c.3109G>A (p.Glu1037Lys) n.1946G>A c.1708G>A (p.Glu570Lys) c.2017G>A (p.Glu673Lys) n.3054G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698574G>C | CA396101689 | PHKB | c.*1704G>C (n.*1704G>C) c.*758G>C (n.*758G>C) c.3130G>C (p.Glu1044Gln) c.144G>C c.3109G>C (p.Glu1037Gln) n.1946G>C c.1708G>C (p.Glu570Gln) c.2017G>C (p.Glu673Gln) n.3054G>C | |
16 | g.47698574G= | CA2220493581 | PHKB | c.*1704G= (n.*1704G=) c.*758G= (n.*758G=) c.3130G= (p.Glu1044=) c.144G= c.3109G= (p.Glu1037=) n.1946G= c.1708G= (p.Glu570=) c.2017G= (p.Glu673=) n.3054G= | |
16 | g.47698574G>T | CA396101688 | PHKB | c.*1704G>T (n.*1704G>T) c.*758G>T (n.*758G>T) c.3130G>T (p.Glu1044Ter) c.144G>T c.3109G>T (p.Glu1037Ter) n.1946G>T c.1708G>T (p.Glu570Ter) c.2017G>T (p.Glu673Ter) n.3054G>T | gnomAD v4 |
16 | g.47698575A= | CA2220493582 | PHKB | c.*1705A= (n.*1705A=) c.*759A= (n.*759A=) c.3131A= (p.Glu1044=) c.145A= c.3110A= (p.Glu1037=) n.1947A= c.1709A= (p.Glu570=) c.2018A= (p.Glu673=) n.3055A= | |
16 | g.47698575A>C | CA396101690 | PHKB | c.*1705A>C (n.*1705A>C) c.*759A>C (n.*759A>C) c.3131A>C (p.Glu1044Ala) c.145A>C c.3110A>C (p.Glu1037Ala) n.1947A>C c.1709A>C (p.Glu570Ala) c.2018A>C (p.Glu673Ala) n.3055A>C | |
16 | g.47698575A>G | CA8041438 | PHKB | c.*1705A>G (n.*1705A>G) c.*759A>G (n.*759A>G) c.3131A>G (p.Glu1044Gly) c.145A>G c.3110A>G (p.Glu1037Gly) n.1947A>G c.1709A>G (p.Glu570Gly) c.2018A>G (p.Glu673Gly) n.3055A>G | ClinVar dbSNP ExAC gnomAD v4 |
16 | g.47698575A>T | CA396101691 | PHKB | c.*1705A>T (n.*1705A>T) c.*759A>T (n.*759A>T) c.3131A>T (p.Glu1044Val) c.145A>T c.3110A>T (p.Glu1037Val) n.1947A>T c.1709A>T (p.Glu570Val) c.2018A>T (p.Glu673Val) n.3055A>T | |
16 | g.47698576A>C | CA396101692 | PHKB | c.*1706A>C (n.*1706A>C) c.*760A>C (n.*760A>C) c.3132A>C (p.Glu1044Asp) c.146A>C c.3111A>C (p.Glu1037Asp) n.1948A>C c.1710A>C (p.Glu570Asp) c.2019A>C (p.Glu673Asp) n.3056A>C | |
16 | g.47698576A>G | CA495361500 | PHKB | c.*1706A>G (n.*1706A>G) c.*760A>G (n.*760A>G) c.3132A>G (p.Glu1044=) c.146A>G c.3111A>G (p.Glu1037=) n.1948A>G c.1710A>G (p.Glu570=) c.2019A>G (p.Glu673=) n.3056A>G | |
16 | g.47698576A>T | CA396101693 | PHKB | c.*1706A>T (n.*1706A>T) c.*760A>T (n.*760A>T) c.3132A>T (p.Glu1044Asp) c.146A>T c.3111A>T (p.Glu1037Asp) n.1948A>T c.1710A>T (p.Glu570Asp) c.2019A>T (p.Glu673Asp) n.3056A>T | |
16 | g.47698577A= | CA2220493583 | PHKB | c.*1707A= (n.*1707A=) c.*761A= (n.*761A=) c.3133A= (p.Ile1045=) c.147A= c.3112A= (p.Ile1038=) n.1949A= c.1711A= (p.Ile571=) c.2020A= (p.Ile674=) n.3057A= | |
16 | g.47698577A>C | CA396101694 | PHKB | c.*1707A>C (n.*1707A>C) c.*761A>C (n.*761A>C) c.3133A>C (p.Ile1045Leu) c.147A>C c.3112A>C (p.Ile1038Leu) n.1949A>C c.1711A>C (p.Ile571Leu) c.2020A>C (p.Ile674Leu) n.3057A>C | |
16 | g.47698577A>G | CA396101695 | PHKB | c.*1707A>G (n.*1707A>G) c.*761A>G (n.*761A>G) c.3133A>G (p.Ile1045Val) c.147A>G c.3112A>G (p.Ile1038Val) n.1949A>G c.1711A>G (p.Ile571Val) c.2020A>G (p.Ile674Val) n.3057A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698577A>T | CA396101696 | PHKB | c.*1707A>T (n.*1707A>T) c.*761A>T (n.*761A>T) c.3133A>T (p.Ile1045Phe) c.147A>T c.3112A>T (p.Ile1038Phe) n.1949A>T c.1711A>T (p.Ile571Phe) c.2020A>T (p.Ile674Phe) n.3057A>T | |
16 | g.47698578T>A | CA396101697 | PHKB | c.*1708T>A (n.*1708T>A) c.*762T>A (n.*762T>A) c.3134T>A (p.Ile1045Asn) c.148T>A c.3113T>A (p.Ile1038Asn) n.1950T>A c.1712T>A (p.Ile571Asn) c.2021T>A (p.Ile674Asn) n.3058T>A | gnomAD v3 gnomAD v4 |
16 | g.47698578T>C | CA8041439 | PHKB | c.*1708T>C (n.*1708T>C) c.*762T>C (n.*762T>C) c.3134T>C (p.Ile1045Thr) c.148T>C c.3113T>C (p.Ile1038Thr) n.1950T>C c.1712T>C (p.Ile571Thr) c.2021T>C (p.Ile674Thr) n.3058T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698578T>G | CA396101698 | PHKB | c.*1708T>G (n.*1708T>G) c.*762T>G (n.*762T>G) c.3134T>G (p.Ile1045Ser) c.148T>G c.3113T>G (p.Ile1038Ser) n.1950T>G c.1712T>G (p.Ile571Ser) c.2021T>G (p.Ile674Ser) n.3058T>G | |
16 | g.47698578T= | CA2220493584 | PHKB | c.*1708T= (n.*1708T=) c.*762T= (n.*762T=) c.3134T= (p.Ile1045=) c.148T= c.3113T= (p.Ile1038=) n.1950T= c.1712T= (p.Ile571=) c.2021T= (p.Ile674=) n.3058T= | |
16 | g.47698579T>A | CA495361502 | PHKB | c.*1709T>A (n.*1709T>A) c.*763T>A (n.*763T>A) c.3135T>A (p.Ile1045=) c.149T>A c.3114T>A (p.Ile1038=) n.1951T>A c.1713T>A (p.Ile571=) c.2022T>A (p.Ile674=) n.3059T>A | gnomAD v3 gnomAD v4 |
16 | g.47698579T>C | CA495361501 | PHKB | c.*1709T>C (n.*1709T>C) c.*763T>C (n.*763T>C) c.3135T>C (p.Ile1045=) c.149T>C c.3114T>C (p.Ile1038=) n.1951T>C c.1713T>C (p.Ile571=) c.2022T>C (p.Ile674=) n.3059T>C | |
16 | g.47698579T>G | CA396101699 | PHKB | c.*1709T>G (n.*1709T>G) c.*763T>G (n.*763T>G) c.3135T>G (p.Ile1045Met) c.149T>G c.3114T>G (p.Ile1038Met) n.1951T>G c.1713T>G (p.Ile571Met) c.2022T>G (p.Ile674Met) n.3059T>G | |
16 | g.47698580_47698590del | CA2575984643 | PHKB | c.*1710_*1718+2del c.*764_*772+2del c.3136_3144+2del c.150_158+2del c.3115_3123+2del n.1952_1960+2del c.1714_1722+2del c.2023_2031+2del n.3060_3068+2del | |
16 | g.47698580G>A | CA396101701 | PHKB | c.*1710G>A (n.*1710G>A) c.*764G>A (n.*764G>A) c.3136G>A (p.Glu1046Lys) c.150G>A c.3115G>A (p.Glu1039Lys) n.1952G>A c.1714G>A (p.Glu572Lys) c.2023G>A (p.Glu675Lys) n.3060G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698580G>C | CA396101702 | PHKB | c.*1710G>C (n.*1710G>C) c.*764G>C (n.*764G>C) c.3136G>C (p.Glu1046Gln) c.150G>C c.3115G>C (p.Glu1039Gln) n.1952G>C c.1714G>C (p.Glu572Gln) c.2023G>C (p.Glu675Gln) n.3060G>C | |
16 | g.47698580G= | CA2220493585 | PHKB | c.*1710G= (n.*1710G=) c.*764G= (n.*764G=) c.3136G= (p.Glu1046=) c.150G= c.3115G= (p.Glu1039=) n.1952G= c.1714G= (p.Glu572=) c.2023G= (p.Glu675=) n.3060G= | |
16 | g.47698580G>T | CA396101700 | PHKB | c.*1710G>T (n.*1710G>T) c.*764G>T (n.*764G>T) c.3136G>T (p.Glu1046Ter) c.150G>T c.3115G>T (p.Glu1039Ter) n.1952G>T c.1714G>T (p.Glu572Ter) c.2023G>T (p.Glu675Ter) n.3060G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698581A>C | CA396101704 | PHKB | c.*1711A>C (n.*1711A>C) c.*765A>C (n.*765A>C) c.3137A>C (p.Glu1046Ala) c.151A>C c.3116A>C (p.Glu1039Ala) n.1953A>C c.1715A>C (p.Glu572Ala) c.2024A>C (p.Glu675Ala) n.3061A>C | |
16 | g.47698581A>G | CA396101703 | PHKB | c.*1711A>G (n.*1711A>G) c.*765A>G (n.*765A>G) c.3137A>G (p.Glu1046Gly) c.151A>G c.3116A>G (p.Glu1039Gly) n.1953A>G c.1715A>G (p.Glu572Gly) c.2024A>G (p.Glu675Gly) n.3061A>G | |
16 | g.47698581A>T | CA396101705 | PHKB | c.*1711A>T (n.*1711A>T) c.*765A>T (n.*765A>T) c.3137A>T (p.Glu1046Val) c.151A>T c.3116A>T (p.Glu1039Val) n.1953A>T c.1715A>T (p.Glu572Val) c.2024A>T (p.Glu675Val) n.3061A>T | |
16 | g.47698582A>C | CA396101706 | PHKB | c.*1712A>C (n.*1712A>C) c.*766A>C (n.*766A>C) c.3138A>C (p.Glu1046Asp) c.152A>C c.3117A>C (p.Glu1039Asp) n.1954A>C c.1716A>C (p.Glu572Asp) c.2025A>C (p.Glu675Asp) n.3062A>C | |
16 | g.47698582A>G | CA495361503 | PHKB | c.*1712A>G (n.*1712A>G) c.*766A>G (n.*766A>G) c.3138A>G (p.Glu1046=) c.152A>G c.3117A>G (p.Glu1039=) n.1954A>G c.1716A>G (p.Glu572=) c.2025A>G (p.Glu675=) n.3062A>G | |
16 | g.47698582A>T | CA396101707 | PHKB | c.*1712A>T (n.*1712A>T) c.*766A>T (n.*766A>T) c.3138A>T (p.Glu1046Asp) c.152A>T c.3117A>T (p.Glu1039Asp) n.1954A>T c.1716A>T (p.Glu572Asp) c.2025A>T (p.Glu675Asp) n.3062A>T | |
16 | g.47698582_47698586delinsAAAAC | CA2220493586 | PHKB | c.*1712_*1716delinsAAAAC (n.*1712_*1716delinsAAAAC) c.*766_*770delinsAAAAC (n.*766_*770delinsAAAAC) c.3138_3142delinsAAAAC (p.Glu1046=) c.152_156delinsAAAAC c.3117_3121delinsAAAAC (p.Glu1039=) n.1954_1958delinsAAAAC c.1716_1720delinsAAAAC (p.Glu572=) c.2025_2029delinsAAAAC (p.Glu675=) n.3062_3066delinsAAAAC | |
16 | g.47698583A>C | CA396101708 | PHKB | c.*1713A>C (n.*1713A>C) c.*767A>C (n.*767A>C) c.3139A>C (p.Lys1047Gln) c.153A>C c.3118A>C (p.Lys1040Gln) n.1955A>C c.1717A>C (p.Lys573Gln) c.2026A>C (p.Lys676Gln) n.3063A>C | |
16 | g.47698583A>G | CA396101709 | PHKB | c.*1713A>G (n.*1713A>G) c.*767A>G (n.*767A>G) c.3139A>G (p.Lys1047Glu) c.153A>G c.3118A>G (p.Lys1040Glu) n.1955A>G c.1717A>G (p.Lys573Glu) c.2026A>G (p.Lys676Glu) n.3063A>G | |
16 | g.47698583A>T | CA396101710 | PHKB | c.*1713A>T (n.*1713A>T) c.*767A>T (n.*767A>T) c.3139A>T (p.Lys1047Ter) c.153A>T c.3118A>T (p.Lys1040Ter) n.1955A>T c.1717A>T (p.Lys573Ter) c.2026A>T (p.Lys676Ter) n.3063A>T | |
16 | g.47698585_47698588del | CA8041440 | PHKB | c.*1715_*1718del (n.*1715_*1718del) c.*769_*772del (n.*769_*772del) c.3141_3144del (p.Gln1048MetfsTer3) c.155_158del c.3120_3123del (p.Gln1041MetfsTer3) n.1957_1960del c.1719_1722del (p.Gln574MetfsTer3) c.2028_2031del (p.Gln677MetfsTer3) n.3065_3068del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698584A>C | CA396101711 | PHKB | c.*1714A>C (n.*1714A>C) c.*768A>C (n.*768A>C) c.3140A>C (p.Lys1047Thr) c.154A>C c.3119A>C (p.Lys1040Thr) n.1956A>C c.1718A>C (p.Lys573Thr) c.2027A>C (p.Lys676Thr) n.3064A>C | |
16 | g.47698584A>G | CA396101712 | PHKB | c.*1714A>G (n.*1714A>G) c.*768A>G (n.*768A>G) c.3140A>G (p.Lys1047Arg) c.154A>G c.3119A>G (p.Lys1040Arg) n.1956A>G c.1718A>G (p.Lys573Arg) c.2027A>G (p.Lys676Arg) n.3064A>G | gnomAD v4 |
16 | g.47698584A>T | CA396101713 | PHKB | c.*1714A>T (n.*1714A>T) c.*768A>T (n.*768A>T) c.3140A>T (p.Lys1047Ile) c.154A>T c.3119A>T (p.Lys1040Ile) n.1956A>T c.1718A>T (p.Lys573Ile) c.2027A>T (p.Lys676Ile) n.3064A>T | |
16 | g.47698585A= | CA2220493587 | PHKB | c.*1715A= (n.*1715A=) c.*769A= (n.*769A=) c.3141A= (p.Lys1047=) c.155A= c.3120A= (p.Lys1040=) n.1957A= c.1719A= (p.Lys573=) c.2028A= (p.Lys676=) n.3065A= | |
16 | g.47698585A>C | CA396101714 | PHKB | c.*1715A>C (n.*1715A>C) c.*769A>C (n.*769A>C) c.3141A>C (p.Lys1047Asn) c.155A>C c.3120A>C (p.Lys1040Asn) n.1957A>C c.1719A>C (p.Lys573Asn) c.2028A>C (p.Lys676Asn) n.3065A>C | |
16 | g.47698585A>G | CA495361504 | PHKB | c.*1715A>G (n.*1715A>G) c.*769A>G (n.*769A>G) c.3141A>G (p.Lys1047=) c.155A>G c.3120A>G (p.Lys1040=) n.1957A>G c.1719A>G (p.Lys573=) c.2028A>G (p.Lys676=) n.3065A>G | |
16 | g.47698585A>T | CA396101715 | PHKB | c.*1715A>T (n.*1715A>T) c.*769A>T (n.*769A>T) c.3141A>T (p.Lys1047Asn) c.155A>T c.3120A>T (p.Lys1040Asn) n.1957A>T c.1719A>T (p.Lys573Asn) c.2028A>T (p.Lys676Asn) n.3065A>T | |
16 | g.47698586C>A | CA8041442 | PHKB | c.*1716C>A (n.*1716C>A) c.*770C>A (n.*770C>A) c.3142C>A (p.Gln1048Lys) c.156C>A c.3121C>A (p.Gln1041Lys) n.1958C>A c.1720C>A (p.Gln574Lys) c.2029C>A (p.Gln677Lys) n.3066C>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.47698586C= | CA2220493589 | PHKB | c.*1716C= (n.*1716C=) c.*770C= (n.*770C=) c.3142C= (p.Gln1048=) c.156C= c.3121C= (p.Gln1041=) n.1958C= c.1720C= (p.Gln574=) c.2029C= (p.Gln677=) n.3066C= | |
16 | g.47698586C>G | CA396101717 | PHKB | c.*1716C>G (n.*1716C>G) c.*770C>G (n.*770C>G) c.3142C>G (p.Gln1048Glu) c.156C>G c.3121C>G (p.Gln1041Glu) n.1958C>G c.1720C>G (p.Gln574Glu) c.2029C>G (p.Gln677Glu) n.3066C>G | |
16 | g.47698586C>T | CA396101716 | PHKB | c.*1716C>T (n.*1716C>T) c.*770C>T (n.*770C>T) c.3142C>T (p.Gln1048Ter) c.156C>T c.3121C>T (p.Gln1041Ter) n.1958C>T c.1720C>T (p.Gln574Ter) c.2029C>T (p.Gln677Ter) n.3066C>T | dbSNP gnomAD v4 |
16 | g.47698586dup | CA8041441 | PHKB | c.*1716dup (n.*1716dup) c.*770dup (n.*770dup) c.3142dup (p.Gln1048ProfsTer3) c.156dup c.3121dup (p.Gln1041ProfsTer3) n.1958dup c.1720dup (p.Gln574ProfsTer3) c.2029dup (p.Gln677ProfsTer3) n.3066dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.47698586_47698590delinsCAAGT | CA2220493588 | PHKB | c.*1716_*1718+2delinsCAAGT c.*770_*772+2delinsCAAGT c.3142_3144+2delinsCAAGT c.156_158+2delinsCAAGT c.3121_3123+2delinsCAAGT n.1958_1960+2delinsCAAGT c.1720_1722+2delinsCAAGT c.2029_2031+2delinsCAAGT n.3066_3068+2delinsCAAGT | |
16 | g.47698587A>C | CA396101718 | PHKB | c.*1717A>C (n.*1717A>C) c.*771A>C (n.*771A>C) c.3143A>C (p.Gln1048Pro) c.157A>C c.3122A>C (p.Gln1041Pro) n.1959A>C c.1721A>C (p.Gln574Pro) c.2030A>C (p.Gln677Pro) n.3067A>C | |
16 | g.47698587A>G | CA396101719 | PHKB | c.*1717A>G (n.*1717A>G) c.*771A>G (n.*771A>G) c.3143A>G (p.Gln1048Arg) c.157A>G c.3122A>G (p.Gln1041Arg) n.1959A>G c.1721A>G (p.Gln574Arg) c.2030A>G (p.Gln677Arg) n.3067A>G | |
16 | g.47698587A>T | CA396101720 | PHKB | c.*1717A>T (n.*1717A>T) c.*771A>T (n.*771A>T) c.3143A>T (p.Gln1048Leu) c.157A>T c.3122A>T (p.Gln1041Leu) n.1959A>T c.1721A>T (p.Gln574Leu) c.2030A>T (p.Gln677Leu) n.3067A>T | |
16 | g.47698592_47698595del | CA2220493590 | PHKB | c.*1718+4_*1718+7del c.*772+4_*772+7del c.3144+4_3144+7del c.158+4_158+7del c.3123+4_3123+7del n.1960+4_1960+7del c.1722+4_1722+7del c.2031+4_2031+7del n.3068+4_3068+7del | dbSNP |
16 | g.47698588A= | CA2220493591 | PHKB | c.*1718A= (n.*1718A=) c.*772A= (n.*772A=) c.3144A= (p.Gln1048=) c.158A= c.3123A= (p.Gln1041=) n.1960A= c.1722A= (p.Gln574=) c.2031A= (p.Gln677=) n.3068A= | |
16 | g.47698588A>C | CA396101721 | PHKB | c.*1718A>C (n.*1718A>C) c.*772A>C (n.*772A>C) c.3144A>C (p.Gln1048His) c.158A>C c.3123A>C (p.Gln1041His) n.1960A>C c.1722A>C (p.Gln574His) c.2031A>C (p.Gln677His) n.3068A>C | |
16 | g.47698588A>G | CA495361505 | PHKB | c.*1718A>G (n.*1718A>G) c.*772A>G (n.*772A>G) c.3144A>G (p.Gln1048=) c.158A>G c.3123A>G (p.Gln1041=) n.1960A>G c.1722A>G (p.Gln574=) c.2031A>G (p.Gln677=) n.3068A>G | dbSNP |
16 | g.47698588A>T | CA396101722 | PHKB | c.*1718A>T (n.*1718A>T) c.*772A>T (n.*772A>T) c.3144A>T (p.Gln1048His) c.158A>T c.3123A>T (p.Gln1041His) n.1960A>T c.1722A>T (p.Gln574His) c.2031A>T (p.Gln677His) n.3068A>T | |
16 | g.47698589G>A | CA396101723 | PHKB | c.*1718+1G>A (n.*1718+1G>A) c.*772+1G>A (n.*772+1G>A) c.3144+1G>A (n.3144+1G>A) c.158+1G>A c.3123+1G>A (n.3123+1G>A) n.1960+1G>A c.1722+1G>A (n.1722+1G>A) c.2031+1G>A (n.2031+1G>A) n.3068+1G>A | gnomAD v4 |
16 | g.47698589G>C | CA396101724 | PHKB | c.*1718+1G>C (n.*1718+1G>C) c.*772+1G>C (n.*772+1G>C) c.3144+1G>C (n.3144+1G>C) c.158+1G>C c.3123+1G>C (n.3123+1G>C) n.1960+1G>C c.1722+1G>C (n.1722+1G>C) c.2031+1G>C (n.2031+1G>C) n.3068+1G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.47698589G= | CA2220493592 | PHKB | c.*1718+1G= (n.*1718+1G=) c.*772+1G= (n.*772+1G=) c.3144+1G= (n.3144+1G=) c.158+1G= c.3123+1G= (n.3123+1G=) n.1960+1G= c.1722+1G= (n.1722+1G=) c.2031+1G= (n.2031+1G=) n.3068+1G= | |
16 | g.47698589G>T | CA396101725 | PHKB | c.*1718+1G>T (n.*1718+1G>T) c.*772+1G>T (n.*772+1G>T) c.3144+1G>T (n.3144+1G>T) c.158+1G>T c.3123+1G>T (n.3123+1G>T) n.1960+1G>T c.1722+1G>T (n.1722+1G>T) c.2031+1G>T (n.2031+1G>T) n.3068+1G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698589_47698590insA | CA2732291158 | PHKB | c.*1718+1_*1718+2insA (n.*1718+1_*1718+2insA) c.*772+1_*772+2insA (n.*772+1_*772+2insA) c.3144+1_3144+2insA (n.3144+1_3144+2insA) c.158+1_158+2insA c.3123+1_3123+2insA (n.3123+1_3123+2insA) n.1960+1_1960+2insA c.1722+1_1722+2insA (n.1722+1_1722+2insA) c.2031+1_2031+2insA (n.2031+1_2031+2insA) n.3068+1_3068+2insA | dbSNP |
16 | g.47698590T>A | CA396101726 | PHKB | c.*1718+2T>A (n.*1718+2T>A) c.*772+2T>A (n.*772+2T>A) c.3144+2T>A (n.3144+2T>A) c.158+2T>A c.3123+2T>A (n.3123+2T>A) n.1960+2T>A c.1722+2T>A (n.1722+2T>A) c.2031+2T>A (n.2031+2T>A) n.3068+2T>A | gnomAD v4 |
16 | g.47698590T>C | CA396101727 | PHKB | c.*1718+2T>C (n.*1718+2T>C) c.*772+2T>C (n.*772+2T>C) c.3144+2T>C (n.3144+2T>C) c.158+2T>C c.3123+2T>C (n.3123+2T>C) n.1960+2T>C c.1722+2T>C (n.1722+2T>C) c.2031+2T>C (n.2031+2T>C) n.3068+2T>C | |
16 | g.47698590T>G | CA396101728 | PHKB | c.*1718+2T>G (n.*1718+2T>G) c.*772+2T>G (n.*772+2T>G) c.3144+2T>G (n.3144+2T>G) c.158+2T>G c.3123+2T>G (n.3123+2T>G) n.1960+2T>G c.1722+2T>G (n.1722+2T>G) c.2031+2T>G (n.2031+2T>G) n.3068+2T>G | |
16 | g.47698590dup | CA2633050217 | PHKB | c.*1718+2dup (n.*1718+2dup) c.*772+2dup (n.*772+2dup) c.3144+2dup (n.3144+2dup) c.158+2dup c.3123+2dup (n.3123+2dup) n.1960+2dup c.1722+2dup (n.1722+2dup) c.2031+2dup (n.2031+2dup) n.3068+2dup | gnomAD v4 |
16 | g.47698590_47698591insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA | CA2732291160 | PHKB | c.*1718+2_*1718+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.*1718+2_*1718+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA) c.*772+2_*772+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.*772+2_*772+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA) c.3144+2_3144+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.3144+2_3144+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA) c.158+2_158+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA c.3123+2_3123+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.3123+2_3123+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA) n.1960+2_1960+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA c.1722+2_1722+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.1722+2_1722+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA) c.2031+2_2031+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA (n.2031+2_2031+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA) n.3068+2_3068+3insGACATGACTTCCTTTTACAACACTCCTCCCCTGGGAAA | dbSNP |
16 | g.47698591A>T | CA2575984644 | PHKB | c.*1718+3A>T (n.*1718+3A>T) c.*772+3A>T (n.*772+3A>T) c.3144+3A>T (n.3144+3A>T) c.158+3A>T c.3123+3A>T (n.3123+3A>T) n.1960+3A>T c.1722+3A>T (n.1722+3A>T) c.2031+3A>T (n.2031+3A>T) n.3068+3A>T | |
16 | g.47698592A>C | CA2633050218 | PHKB | c.*1718+4A>C (n.*1718+4A>C) c.*772+4A>C (n.*772+4A>C) c.3144+4A>C (n.3144+4A>C) c.158+4A>C c.3123+4A>C (n.3123+4A>C) n.1960+4A>C c.1722+4A>C (n.1722+4A>C) c.2031+4A>C (n.2031+4A>C) n.3068+4A>C | gnomAD v4 |
16 | g.47698593G>A | CA2633050219 | PHKB | c.*1718+5G>A (n.*1718+5G>A) c.*772+5G>A (n.*772+5G>A) c.3144+5G>A (n.3144+5G>A) c.158+5G>A c.3123+5G>A (n.3123+5G>A) n.1960+5G>A c.1722+5G>A (n.1722+5G>A) c.2031+5G>A (n.2031+5G>A) n.3068+5G>A | gnomAD v4 |
16 | g.47698593G>C | CA2594981285 | PHKB | c.*1718+5G>C (n.*1718+5G>C) c.*772+5G>C (n.*772+5G>C) c.3144+5G>C (n.3144+5G>C) c.158+5G>C c.3123+5G>C (n.3123+5G>C) n.1960+5G>C c.1722+5G>C (n.1722+5G>C) c.2031+5G>C (n.2031+5G>C) n.3068+5G>C | gnomAD v3 gnomAD v4 |
16 | g.47698593G>T | CA977062713 | PHKB | c.*1718+5G>T (n.*1718+5G>T) c.*772+5G>T (n.*772+5G>T) c.3144+5G>T (n.3144+5G>T) c.158+5G>T c.3123+5G>T (n.3123+5G>T) n.1960+5G>T c.1722+5G>T (n.1722+5G>T) c.2031+5G>T (n.2031+5G>T) n.3068+5G>T | gnomAD v3 gnomAD v4 |
16 | g.47698593_47698594del | CA2806912478 | PHKB | c.*1718+5_*1718+6del (n.*1718+5_*1718+6del) c.*772+5_*772+6del (n.*772+5_*772+6del) c.3144+5_3144+6del (n.3144+5_3144+6del) c.158+5_158+6del c.3123+5_3123+6del (n.3123+5_3123+6del) n.1960+5_1960+6del c.1722+5_1722+6del (n.1722+5_1722+6del) c.2031+5_2031+6del (n.2031+5_2031+6del) n.3068+5_3068+6del | |
16 | g.47698594T>A | CA2633050222 | PHKB | c.*1718+6T>A (n.*1718+6T>A) c.*772+6T>A (n.*772+6T>A) c.3144+6T>A (n.3144+6T>A) c.158+6T>A c.3123+6T>A (n.3123+6T>A) n.1960+6T>A c.1722+6T>A (n.1722+6T>A) c.2031+6T>A (n.2031+6T>A) n.3068+6T>A | gnomAD v4 |
16 | g.47698594T>C | CA2633050221 | PHKB | c.*1718+6T>C (n.*1718+6T>C) c.*772+6T>C (n.*772+6T>C) c.3144+6T>C (n.3144+6T>C) c.158+6T>C c.3123+6T>C (n.3123+6T>C) n.1960+6T>C c.1722+6T>C (n.1722+6T>C) c.2031+6T>C (n.2031+6T>C) n.3068+6T>C | gnomAD v4 |
16 | g.47698594T>G | CA2633050220 | PHKB | c.*1718+6T>G (n.*1718+6T>G) c.*772+6T>G (n.*772+6T>G) c.3144+6T>G (n.3144+6T>G) c.158+6T>G c.3123+6T>G (n.3123+6T>G) n.1960+6T>G c.1722+6T>G (n.1722+6T>G) c.2031+6T>G (n.2031+6T>G) n.3068+6T>G | gnomAD v4 |
16 | g.47698595A= | CA2220493593 | PHKB | c.*1718+7A= (n.*1718+7A=) c.*772+7A= (n.*772+7A=) c.3144+7A= (n.3144+7A=) c.158+7A= c.3123+7A= (n.3123+7A=) n.1960+7A= c.1722+7A= (n.1722+7A=) c.2031+7A= (n.2031+7A=) n.3068+7A= | |
16 | g.47698595A>C | CA2633050223 | PHKB | c.*1718+7A>C (n.*1718+7A>C) c.*772+7A>C (n.*772+7A>C) c.3144+7A>C (n.3144+7A>C) c.158+7A>C c.3123+7A>C (n.3123+7A>C) n.1960+7A>C c.1722+7A>C (n.1722+7A>C) c.2031+7A>C (n.2031+7A>C) n.3068+7A>C | gnomAD v4 |
16 | g.47698595A>G | CA8041443 | PHKB | c.*1718+7A>G (n.*1718+7A>G) c.*772+7A>G (n.*772+7A>G) c.3144+7A>G (n.3144+7A>G) c.158+7A>G c.3123+7A>G (n.3123+7A>G) n.1960+7A>G c.1722+7A>G (n.1722+7A>G) c.2031+7A>G (n.2031+7A>G) n.3068+7A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.47698595A>T | CA2633050224 | PHKB | c.*1718+7A>T (n.*1718+7A>T) c.*772+7A>T (n.*772+7A>T) c.3144+7A>T (n.3144+7A>T) c.158+7A>T c.3123+7A>T (n.3123+7A>T) n.1960+7A>T c.1722+7A>T (n.1722+7A>T) c.2031+7A>T (n.2031+7A>T) n.3068+7A>T | gnomAD v4 |
16 | g.47698596C>A | CA977062758 | PHKB | c.*1718+8C>A (n.*1718+8C>A) c.*772+8C>A (n.*772+8C>A) c.3144+8C>A (n.3144+8C>A) c.158+8C>A c.3123+8C>A (n.3123+8C>A) n.1960+8C>A c.1722+8C>A (n.1722+8C>A) c.2031+8C>A (n.2031+8C>A) n.3068+8C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698596C= | CA2220493594 | PHKB | c.*1718+8C= (n.*1718+8C=) c.*772+8C= (n.*772+8C=) c.3144+8C= (n.3144+8C=) c.158+8C= c.3123+8C= (n.3123+8C=) n.1960+8C= c.1722+8C= (n.1722+8C=) c.2031+8C= (n.2031+8C=) n.3068+8C= | |
16 | g.47698597A= | CA2220493595 | PHKB | c.*1718+9A= (n.*1718+9A=) c.*772+9A= (n.*772+9A=) c.3144+9A= (n.3144+9A=) c.158+9A= c.3123+9A= (n.3123+9A=) n.1960+9A= c.1722+9A= (n.1722+9A=) c.2031+9A= (n.2031+9A=) n.3068+9A= | |
16 | g.47698597A>C | CA8041444 | PHKB | c.*1718+9A>C (n.*1718+9A>C) c.*772+9A>C (n.*772+9A>C) c.3144+9A>C (n.3144+9A>C) c.158+9A>C c.3123+9A>C (n.3123+9A>C) n.1960+9A>C c.1722+9A>C (n.1722+9A>C) c.2031+9A>C (n.2031+9A>C) n.3068+9A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698597A>G | CA622395942 | PHKB | c.*1718+9A>G (n.*1718+9A>G) c.*772+9A>G (n.*772+9A>G) c.3144+9A>G (n.3144+9A>G) c.158+9A>G c.3123+9A>G (n.3123+9A>G) n.1960+9A>G c.1722+9A>G (n.1722+9A>G) c.2031+9A>G (n.2031+9A>G) n.3068+9A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698598C>A | CA977062786 | PHKB | c.*1718+10C>A (n.*1718+10C>A) c.*772+10C>A (n.*772+10C>A) c.3144+10C>A (n.3144+10C>A) c.158+10C>A c.3123+10C>A (n.3123+10C>A) n.1960+10C>A c.1722+10C>A (n.1722+10C>A) c.2031+10C>A (n.2031+10C>A) n.3068+10C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698598C= | CA2220493596 | PHKB | c.*1718+10C= (n.*1718+10C=) c.*772+10C= (n.*772+10C=) c.3144+10C= (n.3144+10C=) c.158+10C= c.3123+10C= (n.3123+10C=) n.1960+10C= c.1722+10C= (n.1722+10C=) c.2031+10C= (n.2031+10C=) n.3068+10C= | |
16 | g.47698598C>T | CA2633050225 | PHKB | c.*1718+10C>T (n.*1718+10C>T) c.*772+10C>T (n.*772+10C>T) c.3144+10C>T (n.3144+10C>T) c.158+10C>T c.3123+10C>T (n.3123+10C>T) n.1960+10C>T c.1722+10C>T (n.1722+10C>T) c.2031+10C>T (n.2031+10C>T) n.3068+10C>T | gnomAD v4 |
16 | g.47698599A= | CA2220493598 | PHKB | c.*1718+11A= (n.*1718+11A=) c.*772+11A= (n.*772+11A=) c.3144+11A= (n.3144+11A=) c.158+11A= c.3123+11A= (n.3123+11A=) n.1960+11A= c.1722+11A= (n.1722+11A=) c.2031+11A= (n.2031+11A=) n.3068+11A= | |
16 | g.47698599A>C | CA2633050226 | PHKB | c.*1718+11A>C (n.*1718+11A>C) c.*772+11A>C (n.*772+11A>C) c.3144+11A>C (n.3144+11A>C) c.158+11A>C c.3123+11A>C (n.3123+11A>C) n.1960+11A>C c.1722+11A>C (n.1722+11A>C) c.2031+11A>C (n.2031+11A>C) n.3068+11A>C | gnomAD v4 |
16 | g.47698599A>G | CA2633050228 | PHKB | c.*1718+11A>G (n.*1718+11A>G) c.*772+11A>G (n.*772+11A>G) c.3144+11A>G (n.3144+11A>G) c.158+11A>G c.3123+11A>G (n.3123+11A>G) n.1960+11A>G c.1722+11A>G (n.1722+11A>G) c.2031+11A>G (n.2031+11A>G) n.3068+11A>G | ClinVar gnomAD v4 |
16 | g.47698599A>T | CA2633050227 | PHKB | c.*1718+11A>T (n.*1718+11A>T) c.*772+11A>T (n.*772+11A>T) c.3144+11A>T (n.3144+11A>T) c.158+11A>T c.3123+11A>T (n.3123+11A>T) n.1960+11A>T c.1722+11A>T (n.1722+11A>T) c.2031+11A>T (n.2031+11A>T) n.3068+11A>T | gnomAD v4 |
16 | g.47698599_47698600del | CA2633050229 | PHKB | c.*1718+11_*1718+12del (n.*1718+11_*1718+12del) c.*772+11_*772+12del (n.*772+11_*772+12del) c.3144+11_3144+12del (n.3144+11_3144+12del) c.158+11_158+12del c.3123+11_3123+12del (n.3123+11_3123+12del) n.1960+11_1960+12del c.1722+11_1722+12del (n.1722+11_1722+12del) c.2031+11_2031+12del (n.2031+11_2031+12del) n.3068+11_3068+12del | gnomAD v4 |
16 | g.47698599_47698601delinsAGC | CA2220493597 | PHKB | c.*1718+11_*1718+13delinsAGC (n.*1718+11_*1718+13delinsAGC) c.*772+11_*772+13delinsAGC (n.*772+11_*772+13delinsAGC) c.3144+11_3144+13delinsAGC (n.3144+11_3144+13delinsAGC) c.158+11_158+13delinsAGC c.3123+11_3123+13delinsAGC (n.3123+11_3123+13delinsAGC) n.1960+11_1960+13delinsAGC c.1722+11_1722+13delinsAGC (n.1722+11_1722+13delinsAGC) c.2031+11_2031+13delinsAGC (n.2031+11_2031+13delinsAGC) n.3068+11_3068+13delinsAGC | |
16 | g.47698600del | CA2575984645 | PHKB | c.*1718+12del (n.*1718+12del) c.*772+12del (n.*772+12del) c.3144+12del (n.3144+12del) c.158+12del c.3123+12del (n.3123+12del) n.1960+12del c.1722+12del (n.1722+12del) c.2031+12del (n.2031+12del) n.3068+12del | gnomAD v4 |
16 | g.47698600G>A | CA2633050230 | PHKB | c.*1718+12G>A (n.*1718+12G>A) c.*772+12G>A (n.*772+12G>A) c.3144+12G>A (n.3144+12G>A) c.158+12G>A c.3123+12G>A (n.3123+12G>A) n.1960+12G>A c.1722+12G>A (n.1722+12G>A) c.2031+12G>A (n.2031+12G>A) n.3068+12G>A | gnomAD v4 |
16 | g.47698600G>C | CA2633050231 | PHKB | c.*1718+12G>C (n.*1718+12G>C) c.*772+12G>C (n.*772+12G>C) c.3144+12G>C (n.3144+12G>C) c.158+12G>C c.3123+12G>C (n.3123+12G>C) n.1960+12G>C c.1722+12G>C (n.1722+12G>C) c.2031+12G>C (n.2031+12G>C) n.3068+12G>C | gnomAD v4 |
16 | g.47698600G= | CA2220493599 | PHKB | c.*1718+12G= (n.*1718+12G=) c.*772+12G= (n.*772+12G=) c.3144+12G= (n.3144+12G=) c.158+12G= c.3123+12G= (n.3123+12G=) n.1960+12G= c.1722+12G= (n.1722+12G=) c.2031+12G= (n.2031+12G=) n.3068+12G= | |
16 | g.47698600G>T | CA622395943 | PHKB | c.*1718+12G>T (n.*1718+12G>T) c.*772+12G>T (n.*772+12G>T) c.3144+12G>T (n.3144+12G>T) c.158+12G>T c.3123+12G>T (n.3123+12G>T) n.1960+12G>T c.1722+12G>T (n.1722+12G>T) c.2031+12G>T (n.2031+12G>T) n.3068+12G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698600dup | CA10643682 | PHKB | c.*1718+12dup (n.*1718+12dup) c.*772+12dup (n.*772+12dup) c.3144+12dup (n.3144+12dup) c.158+12dup c.3123+12dup (n.3123+12dup) n.1960+12dup c.1722+12dup (n.1722+12dup) c.2031+12dup (n.2031+12dup) n.3068+12dup | ClinVar dbSNP |
16 | g.47698600_47698601del | CA8041445 | PHKB | c.*1718+12_*1718+13del (n.*1718+12_*1718+13del) c.*772+12_*772+13del (n.*772+12_*772+13del) c.3144+12_3144+13del (n.3144+12_3144+13del) c.158+12_158+13del c.3123+12_3123+13del (n.3123+12_3123+13del) n.1960+12_1960+13del c.1722+12_1722+13del (n.1722+12_1722+13del) c.2031+12_2031+13del (n.2031+12_2031+13del) n.3068+12_3068+13del | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.47698600_47698601insA | CA8041447 | PHKB | c.*1718+12_*1718+13insA (n.*1718+12_*1718+13insA) c.*772+12_*772+13insA (n.*772+12_*772+13insA) c.3144+12_3144+13insA (n.3144+12_3144+13insA) c.158+12_158+13insA c.3123+12_3123+13insA (n.3123+12_3123+13insA) n.1960+12_1960+13insA c.1722+12_1722+13insA (n.1722+12_1722+13insA) c.2031+12_2031+13insA (n.2031+12_2031+13insA) n.3068+12_3068+13insA | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.47698600_47698601insT | CA10637827 | PHKB | c.*1718+12_*1718+13insT (n.*1718+12_*1718+13insT) c.*772+12_*772+13insT (n.*772+12_*772+13insT) c.3144+12_3144+13insT (n.3144+12_3144+13insT) c.158+12_158+13insT c.3123+12_3123+13insT (n.3123+12_3123+13insT) n.1960+12_1960+13insT c.1722+12_1722+13insT (n.1722+12_1722+13insT) c.2031+12_2031+13insT (n.2031+12_2031+13insT) n.3068+12_3068+13insT | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698600_47698601insAT | CA2575984646 | PHKB | c.*1718+12_*1718+13insAT (n.*1718+12_*1718+13insAT) c.*772+12_*772+13insAT (n.*772+12_*772+13insAT) c.3144+12_3144+13insAT (n.3144+12_3144+13insAT) c.158+12_158+13insAT c.3123+12_3123+13insAT (n.3123+12_3123+13insAT) n.1960+12_1960+13insAT c.1722+12_1722+13insAT (n.1722+12_1722+13insAT) c.2031+12_2031+13insAT (n.2031+12_2031+13insAT) n.3068+12_3068+13insAT | gnomAD v4 |
16 | g.47698600_47698601insGC | CA396101729 | PHKB | c.*1718+12_*1718+13insGC (n.*1718+12_*1718+13insGC) c.*772+12_*772+13insGC (n.*772+12_*772+13insGC) c.3144+12_3144+13insGC (n.3144+12_3144+13insGC) c.158+12_158+13insGC c.3123+12_3123+13insGC (n.3123+12_3123+13insGC) n.1960+12_1960+13insGC c.1722+12_1722+13insGC (n.1722+12_1722+13insGC) c.2031+12_2031+13insGC (n.2031+12_2031+13insGC) n.3068+12_3068+13insGC | |
16 | g.47698600_47698601insTT | CA622395949 | PHKB | c.*1718+12_*1718+13insTT (n.*1718+12_*1718+13insTT) c.*772+12_*772+13insTT (n.*772+12_*772+13insTT) c.3144+12_3144+13insTT (n.3144+12_3144+13insTT) c.158+12_158+13insTT c.3123+12_3123+13insTT (n.3123+12_3123+13insTT) n.1960+12_1960+13insTT c.1722+12_1722+13insTT (n.1722+12_1722+13insTT) c.2031+12_2031+13insTT (n.2031+12_2031+13insTT) n.3068+12_3068+13insTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698600_47698601insATT | CA2633050237 | PHKB | c.*1718+12_*1718+13insATT (n.*1718+12_*1718+13insATT) c.*772+12_*772+13insATT (n.*772+12_*772+13insATT) c.3144+12_3144+13insATT (n.3144+12_3144+13insATT) c.158+12_158+13insATT c.3123+12_3123+13insATT (n.3123+12_3123+13insATT) n.1960+12_1960+13insATT c.1722+12_1722+13insATT (n.1722+12_1722+13insATT) c.2031+12_2031+13insATT (n.2031+12_2031+13insATT) n.3068+12_3068+13insATT | gnomAD v4 |
16 | g.47698600_47698601insTTT | CA622395947 | PHKB | c.*1718+12_*1718+13insTTT (n.*1718+12_*1718+13insTTT) c.*772+12_*772+13insTTT (n.*772+12_*772+13insTTT) c.3144+12_3144+13insTTT (n.3144+12_3144+13insTTT) c.158+12_158+13insTTT c.3123+12_3123+13insTTT (n.3123+12_3123+13insTTT) n.1960+12_1960+13insTTT c.1722+12_1722+13insTTT (n.1722+12_1722+13insTTT) c.2031+12_2031+13insTTT (n.2031+12_2031+13insTTT) n.3068+12_3068+13insTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698600_47698601insATTT | CA2633050236 | PHKB | c.*1718+12_*1718+13insATTT (n.*1718+12_*1718+13insATTT) c.*772+12_*772+13insATTT (n.*772+12_*772+13insATTT) c.3144+12_3144+13insATTT (n.3144+12_3144+13insATTT) c.158+12_158+13insATTT c.3123+12_3123+13insATTT (n.3123+12_3123+13insATTT) n.1960+12_1960+13insATTT c.1722+12_1722+13insATTT (n.1722+12_1722+13insATTT) c.2031+12_2031+13insATTT (n.2031+12_2031+13insATTT) n.3068+12_3068+13insATTT | gnomAD v4 |
16 | g.47698600_47698601insTTTT | CA622395945 | PHKB | c.*1718+12_*1718+13insTTTT (n.*1718+12_*1718+13insTTTT) c.*772+12_*772+13insTTTT (n.*772+12_*772+13insTTTT) c.3144+12_3144+13insTTTT (n.3144+12_3144+13insTTTT) c.158+12_158+13insTTTT c.3123+12_3123+13insTTTT (n.3123+12_3123+13insTTTT) n.1960+12_1960+13insTTTT c.1722+12_1722+13insTTTT (n.1722+12_1722+13insTTTT) c.2031+12_2031+13insTTTT (n.2031+12_2031+13insTTTT) n.3068+12_3068+13insTTTT | gnomAD v2 gnomAD v4 |
16 | g.47698600_47698601insTTTTT | CA2633050232 | PHKB | c.*1718+12_*1718+13insTTTTT (n.*1718+12_*1718+13insTTTTT) c.*772+12_*772+13insTTTTT (n.*772+12_*772+13insTTTTT) c.3144+12_3144+13insTTTTT (n.3144+12_3144+13insTTTTT) c.158+12_158+13insTTTTT c.3123+12_3123+13insTTTTT (n.3123+12_3123+13insTTTTT) n.1960+12_1960+13insTTTTT c.1722+12_1722+13insTTTTT (n.1722+12_1722+13insTTTTT) c.2031+12_2031+13insTTTTT (n.2031+12_2031+13insTTTTT) n.3068+12_3068+13insTTTTT | gnomAD v4 |
16 | g.47698600_47698601insTTTTTT | CA2633050233 | PHKB | c.*1718+12_*1718+13insTTTTTT (n.*1718+12_*1718+13insTTTTTT) c.*772+12_*772+13insTTTTTT (n.*772+12_*772+13insTTTTTT) c.3144+12_3144+13insTTTTTT (n.3144+12_3144+13insTTTTTT) c.158+12_158+13insTTTTTT c.3123+12_3123+13insTTTTTT (n.3123+12_3123+13insTTTTTT) n.1960+12_1960+13insTTTTTT c.1722+12_1722+13insTTTTTT (n.1722+12_1722+13insTTTTTT) c.2031+12_2031+13insTTTTTT (n.2031+12_2031+13insTTTTTT) n.3068+12_3068+13insTTTTTT | gnomAD v4 |
16 | g.47698601del | CA2633050234 | PHKB | c.*1718+13del (n.*1718+13del) c.*772+13del (n.*772+13del) c.3144+13del (n.3144+13del) c.158+13del c.3123+13del (n.3123+13del) n.1960+13del c.1722+13del (n.1722+13del) c.2031+13del (n.2031+13del) n.3068+13del | gnomAD v4 |
16 | g.47698601C>A | CA977062818 | PHKB | c.*1718+13C>A (n.*1718+13C>A) c.*772+13C>A (n.*772+13C>A) c.3144+13C>A (n.3144+13C>A) c.158+13C>A c.3123+13C>A (n.3123+13C>A) n.1960+13C>A c.1722+13C>A (n.1722+13C>A) c.2031+13C>A (n.2031+13C>A) n.3068+13C>A | gnomAD v3 gnomAD v4 |
16 | g.47698601C= | CA2220493601 | PHKB | c.*1718+13C= (n.*1718+13C=) c.*772+13C= (n.*772+13C=) c.3144+13C= (n.3144+13C=) c.158+13C= c.3123+13C= (n.3123+13C=) n.1960+13C= c.1722+13C= (n.1722+13C=) c.2031+13C= (n.2031+13C=) n.3068+13C= | |
16 | g.47698601C>T | CA721060103 | PHKB | c.*1718+13C>T (n.*1718+13C>T) c.*772+13C>T (n.*772+13C>T) c.3144+13C>T (n.3144+13C>T) c.158+13C>T c.3123+13C>T (n.3123+13C>T) n.1960+13C>T c.1722+13C>T (n.1722+13C>T) c.2031+13C>T (n.2031+13C>T) n.3068+13C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698601dup | CA495361506 | PHKB | c.*1718+13dup (n.*1718+13dup) c.*772+13dup (n.*772+13dup) c.3144+13dup (n.3144+13dup) c.158+13dup c.3123+13dup (n.3123+13dup) n.1960+13dup c.1722+13dup (n.1722+13dup) c.2031+13dup (n.2031+13dup) n.3068+13dup | |
16 | g.47698601_47698602del | CA2633050235 | PHKB | c.*1718+13_*1718+14del (n.*1718+13_*1718+14del) c.*772+13_*772+14del (n.*772+13_*772+14del) c.3144+13_3144+14del (n.3144+13_3144+14del) c.158+13_158+14del c.3123+13_3123+14del (n.3123+13_3123+14del) n.1960+13_1960+14del c.1722+13_1722+14del (n.1722+13_1722+14del) c.2031+13_2031+14del (n.2031+13_2031+14del) n.3068+13_3068+14del | gnomAD v4 |
16 | g.47698601_47698605dup | CA8041446 | PHKB | c.*1718+13_*1718+17dup (n.*1718+13_*1718+17dup) c.*772+13_*772+17dup (n.*772+13_*772+17dup) c.3144+13_3144+17dup (n.3144+13_3144+17dup) c.158+13_158+17dup c.3123+13_3123+17dup (n.3123+13_3123+17dup) n.1960+13_1960+17dup c.1722+13_1722+17dup (n.1722+13_1722+17dup) c.2031+13_2031+17dup (n.2031+13_2031+17dup) n.3068+13_3068+17dup | dbSNP ExAC |
16 | g.47698601_47698612delinsCTTTTTTTTTTT | CA2220493600 | PHKB | c.*1718+13_*1718+24delinsCTTTTTTTTTTT (n.*1718+13_*1718+24delinsCTTTTTTTTTTT) c.*772+13_*772+24delinsCTTTTTTTTTTT (n.*772+13_*772+24delinsCTTTTTTTTTTT) c.3144+13_3144+24delinsCTTTTTTTTTTT (n.3144+13_3144+24delinsCTTTTTTTTTTT) c.158+13_158+24delinsCTTTTTTTTTTT c.3123+13_3123+24delinsCTTTTTTTTTTT (n.3123+13_3123+24delinsCTTTTTTTTTTT) n.1960+13_1960+24delinsCTTTTTTTTTTT c.1722+13_1722+24delinsCTTTTTTTTTTT (n.1722+13_1722+24delinsCTTTTTTTTTTT) c.2031+13_2031+24delinsCTTTTTTTTTTT (n.2031+13_2031+24delinsCTTTTTTTTTTT) n.3068+13_3068+24delinsCTTTTTTTTTTT | |
16 | g.47698601_47698602insA | CA977063059 | PHKB | c.*1718+13_*1718+14insA (n.*1718+13_*1718+14insA) c.*772+13_*772+14insA (n.*772+13_*772+14insA) c.3144+13_3144+14insA (n.3144+13_3144+14insA) c.158+13_158+14insA c.3123+13_3123+14insA (n.3123+13_3123+14insA) n.1960+13_1960+14insA c.1722+13_1722+14insA (n.1722+13_1722+14insA) c.2031+13_2031+14insA (n.2031+13_2031+14insA) n.3068+13_3068+14insA | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698601_47698602insG | CA2806912481 | PHKB | c.*1718+13_*1718+14insG (n.*1718+13_*1718+14insG) c.*772+13_*772+14insG (n.*772+13_*772+14insG) c.3144+13_3144+14insG (n.3144+13_3144+14insG) c.158+13_158+14insG c.3123+13_3123+14insG (n.3123+13_3123+14insG) n.1960+13_1960+14insG c.1722+13_1722+14insG (n.1722+13_1722+14insG) c.2031+13_2031+14insG (n.2031+13_2031+14insG) n.3068+13_3068+14insG | |
16 | g.47698601_47698602insAT | CA2633050255 | PHKB | c.*1718+13_*1718+14insAT (n.*1718+13_*1718+14insAT) c.*772+13_*772+14insAT (n.*772+13_*772+14insAT) c.3144+13_3144+14insAT (n.3144+13_3144+14insAT) c.158+13_158+14insAT c.3123+13_3123+14insAT (n.3123+13_3123+14insAT) n.1960+13_1960+14insAT c.1722+13_1722+14insAT (n.1722+13_1722+14insAT) c.2031+13_2031+14insAT (n.2031+13_2031+14insAT) n.3068+13_3068+14insAT | gnomAD v4 |
16 | g.47698601_47698602insCT | CA2633050260 | PHKB | c.*1718+13_*1718+14insCT (n.*1718+13_*1718+14insCT) c.*772+13_*772+14insCT (n.*772+13_*772+14insCT) c.3144+13_3144+14insCT (n.3144+13_3144+14insCT) c.158+13_158+14insCT c.3123+13_3123+14insCT (n.3123+13_3123+14insCT) n.1960+13_1960+14insCT c.1722+13_1722+14insCT (n.1722+13_1722+14insCT) c.2031+13_2031+14insCT (n.2031+13_2031+14insCT) n.3068+13_3068+14insCT | gnomAD v4 |
16 | g.47698601_47698602insATT | CA2633050256 | PHKB | c.*1718+13_*1718+14insATT (n.*1718+13_*1718+14insATT) c.*772+13_*772+14insATT (n.*772+13_*772+14insATT) c.3144+13_3144+14insATT (n.3144+13_3144+14insATT) c.158+13_158+14insATT c.3123+13_3123+14insATT (n.3123+13_3123+14insATT) n.1960+13_1960+14insATT c.1722+13_1722+14insATT (n.1722+13_1722+14insATT) c.2031+13_2031+14insATT (n.2031+13_2031+14insATT) n.3068+13_3068+14insATT | gnomAD v4 |
16 | g.47698601_47698602insCCT | CA2633050257 | PHKB | c.*1718+13_*1718+14insCCT (n.*1718+13_*1718+14insCCT) c.*772+13_*772+14insCCT (n.*772+13_*772+14insCCT) c.3144+13_3144+14insCCT (n.3144+13_3144+14insCCT) c.158+13_158+14insCCT c.3123+13_3123+14insCCT (n.3123+13_3123+14insCCT) n.1960+13_1960+14insCCT c.1722+13_1722+14insCCT (n.1722+13_1722+14insCCT) c.2031+13_2031+14insCCT (n.2031+13_2031+14insCCT) n.3068+13_3068+14insCCT | gnomAD v4 |
16 | g.47698601_47698602insCCTT | CA2633050258 | PHKB | c.*1718+13_*1718+14insCCTT (n.*1718+13_*1718+14insCCTT) c.*772+13_*772+14insCCTT (n.*772+13_*772+14insCCTT) c.3144+13_3144+14insCCTT (n.3144+13_3144+14insCCTT) c.158+13_158+14insCCTT c.3123+13_3123+14insCCTT (n.3123+13_3123+14insCCTT) n.1960+13_1960+14insCCTT c.1722+13_1722+14insCCTT (n.1722+13_1722+14insCCTT) c.2031+13_2031+14insCCTT (n.2031+13_2031+14insCCTT) n.3068+13_3068+14insCCTT | gnomAD v4 |
16 | g.47698601_47698602insCCTTT | CA2633050259 | PHKB | c.*1718+13_*1718+14insCCTTT (n.*1718+13_*1718+14insCCTTT) c.*772+13_*772+14insCCTTT (n.*772+13_*772+14insCCTTT) c.3144+13_3144+14insCCTTT (n.3144+13_3144+14insCCTTT) c.158+13_158+14insCCTTT c.3123+13_3123+14insCCTTT (n.3123+13_3123+14insCCTTT) n.1960+13_1960+14insCCTTT c.1722+13_1722+14insCCTTT (n.1722+13_1722+14insCCTTT) c.2031+13_2031+14insCCTTT (n.2031+13_2031+14insCCTTT) n.3068+13_3068+14insCCTTT | gnomAD v4 |
16 | g.47698601_47698602insGTTTT | CA2633050261 | PHKB | c.*1718+13_*1718+14insGTTTT (n.*1718+13_*1718+14insGTTTT) c.*772+13_*772+14insGTTTT (n.*772+13_*772+14insGTTTT) c.3144+13_3144+14insGTTTT (n.3144+13_3144+14insGTTTT) c.158+13_158+14insGTTTT c.3123+13_3123+14insGTTTT (n.3123+13_3123+14insGTTTT) n.1960+13_1960+14insGTTTT c.1722+13_1722+14insGTTTT (n.1722+13_1722+14insGTTTT) c.2031+13_2031+14insGTTTT (n.2031+13_2031+14insGTTTT) n.3068+13_3068+14insGTTTT | gnomAD v4 |
16 | g.47698602T>A | CA2633050253 | PHKB | c.*1718+14T>A (n.*1718+14T>A) c.*772+14T>A (n.*772+14T>A) c.3144+14T>A (n.3144+14T>A) c.158+14T>A c.3123+14T>A (n.3123+14T>A) n.1960+14T>A c.1722+14T>A (n.1722+14T>A) c.2031+14T>A (n.2031+14T>A) n.3068+14T>A | gnomAD v4 |
16 | g.47698602T>C | CA2633050254 | PHKB | c.*1718+14T>C (n.*1718+14T>C) c.*772+14T>C (n.*772+14T>C) c.3144+14T>C (n.3144+14T>C) c.158+14T>C c.3123+14T>C (n.3123+14T>C) n.1960+14T>C c.1722+14T>C (n.1722+14T>C) c.2031+14T>C (n.2031+14T>C) n.3068+14T>C | gnomAD v4 |
16 | g.47698602_47698603insCTTT | CA2633050262 | PHKB | c.*1718+14_*1718+15insCTTT (n.*1718+14_*1718+15insCTTT) c.*772+14_*772+15insCTTT (n.*772+14_*772+15insCTTT) c.3144+14_3144+15insCTTT (n.3144+14_3144+15insCTTT) c.158+14_158+15insCTTT c.3123+14_3123+15insCTTT (n.3123+14_3123+15insCTTT) n.1960+14_1960+15insCTTT c.1722+14_1722+15insCTTT (n.1722+14_1722+15insCTTT) c.2031+14_2031+15insCTTT (n.2031+14_2031+15insCTTT) n.3068+14_3068+15insCTTT | gnomAD v4 |
16 | g.47698602_47698603insGTTTT | CA2633050263 | PHKB | c.*1718+14_*1718+15insGTTTT (n.*1718+14_*1718+15insGTTTT) c.*772+14_*772+15insGTTTT (n.*772+14_*772+15insGTTTT) c.3144+14_3144+15insGTTTT (n.3144+14_3144+15insGTTTT) c.158+14_158+15insGTTTT c.3123+14_3123+15insGTTTT (n.3123+14_3123+15insGTTTT) n.1960+14_1960+15insGTTTT c.1722+14_1722+15insGTTTT (n.1722+14_1722+15insGTTTT) c.2031+14_2031+15insGTTTT (n.2031+14_2031+15insGTTTT) n.3068+14_3068+15insGTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTT | CA2633050248 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTT | CA2633050247 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTT | CA2633050246 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2499664425 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTT | |
16 | g.47698622_47698623insTTTTATTTTTTTTTTTTTTTTTTTTTTTT | CA977063110 | PHKB | c.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA977063089 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT | CA977063125 | PHKB | c.*1718+34_*1718+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTGTATTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | CA977063116 | PHKB | c.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA977063086 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT | CA2633050244 | PHKB | c.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | CA977063096 | PHKB | c.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2633050240 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | CA2633050241 | PHKB | c.*1718+34_*1718+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2806912479 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
16 | g.47698622_47698623insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2806912480 | PHKB | c.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
16 | g.47698622_47698623insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2633050242 | PHKB | c.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2633050239 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2633050245 | PHKB | c.*1718+34_*1718+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2594981287 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | CA977063036 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA977063003 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA977062998 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | CA977063004 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA977063011 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | CA977062997 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | CA977062962 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT | CA977062953 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | CA977062952 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | CA2741483895 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | CA977062944 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA977063000 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT | CA977062932 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTCTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | CA977063038 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT | CA977063014 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT | CA2633050243 | PHKB | c.*1718+34_*1718+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTAATTTTTTTTTTTTTTTTATTTTTTTAATTATTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
16 | g.47698622_47698623insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT | CA977063117 | PHKB | c.*1718+34_*1718+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTAGAATTTTTTTTTTGTCTCTATTTTTTTTAATATCCTTTTTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA977063008 | PHKB | c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698622dup | CA8041450 | PHKB | c.*1718+34dup (n.*1718+34dup) c.*772+34dup (n.*772+34dup) c.3144+34dup (n.3144+34dup) c.158+34dup c.3123+34dup (n.3123+34dup) n.1960+34dup c.1722+34dup (n.1722+34dup) c.2031+34dup (n.2031+34dup) n.3068+34dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698621_47698622dup | CA8041448 | PHKB | c.*1718+33_*1718+34dup (n.*1718+33_*1718+34dup) c.*772+33_*772+34dup (n.*772+33_*772+34dup) c.3144+33_3144+34dup (n.3144+33_3144+34dup) c.158+33_158+34dup c.3123+33_3123+34dup (n.3123+33_3123+34dup) n.1960+33_1960+34dup c.1722+33_1722+34dup (n.1722+33_1722+34dup) c.2031+33_2031+34dup (n.2031+33_2031+34dup) n.3068+33_3068+34dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698620_47698622dup | CA8041451 | PHKB | c.*1718+32_*1718+34dup (n.*1718+32_*1718+34dup) c.*772+32_*772+34dup (n.*772+32_*772+34dup) c.3144+32_3144+34dup (n.3144+32_3144+34dup) c.158+32_158+34dup c.3123+32_3123+34dup (n.3123+32_3123+34dup) n.1960+32_1960+34dup c.1722+32_1722+34dup (n.1722+32_1722+34dup) c.2031+32_2031+34dup (n.2031+32_2031+34dup) n.3068+32_3068+34dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698619_47698622dup | CA8041452 | PHKB | c.*1718+31_*1718+34dup (n.*1718+31_*1718+34dup) c.*772+31_*772+34dup (n.*772+31_*772+34dup) c.3144+31_3144+34dup (n.3144+31_3144+34dup) c.158+31_158+34dup c.3123+31_3123+34dup (n.3123+31_3123+34dup) n.1960+31_1960+34dup c.1722+31_1722+34dup (n.1722+31_1722+34dup) c.2031+31_2031+34dup (n.2031+31_2031+34dup) n.3068+31_3068+34dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698618_47698622dup | CA622395962 | PHKB | c.*1718+30_*1718+34dup (n.*1718+30_*1718+34dup) c.*772+30_*772+34dup (n.*772+30_*772+34dup) c.3144+30_3144+34dup (n.3144+30_3144+34dup) c.158+30_158+34dup c.3123+30_3123+34dup (n.3123+30_3123+34dup) n.1960+30_1960+34dup c.1722+30_1722+34dup (n.1722+30_1722+34dup) c.2031+30_2031+34dup (n.2031+30_2031+34dup) n.3068+30_3068+34dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698617_47698622dup | CA977063068 | PHKB | c.*1718+29_*1718+34dup (n.*1718+29_*1718+34dup) c.*772+29_*772+34dup (n.*772+29_*772+34dup) c.3144+29_3144+34dup (n.3144+29_3144+34dup) c.158+29_158+34dup c.3123+29_3123+34dup (n.3123+29_3123+34dup) n.1960+29_1960+34dup c.1722+29_1722+34dup (n.1722+29_1722+34dup) c.2031+29_2031+34dup (n.2031+29_2031+34dup) n.3068+29_3068+34dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698616_47698622dup | CA977063072 | PHKB | c.*1718+28_*1718+34dup (n.*1718+28_*1718+34dup) c.*772+28_*772+34dup (n.*772+28_*772+34dup) c.3144+28_3144+34dup (n.3144+28_3144+34dup) c.158+28_158+34dup c.3123+28_3123+34dup (n.3123+28_3123+34dup) n.1960+28_1960+34dup c.1722+28_1722+34dup (n.1722+28_1722+34dup) c.2031+28_2031+34dup (n.2031+28_2031+34dup) n.3068+28_3068+34dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698615_47698622dup | CA977063075 | PHKB | c.*1718+27_*1718+34dup (n.*1718+27_*1718+34dup) c.*772+27_*772+34dup (n.*772+27_*772+34dup) c.3144+27_3144+34dup (n.3144+27_3144+34dup) c.158+27_158+34dup c.3123+27_3123+34dup (n.3123+27_3123+34dup) n.1960+27_1960+34dup c.1722+27_1722+34dup (n.1722+27_1722+34dup) c.2031+27_2031+34dup (n.2031+27_2031+34dup) n.3068+27_3068+34dup | gnomAD v3 gnomAD v4 |
16 | g.47698614_47698622dup | CA977063078 | PHKB | c.*1718+26_*1718+34dup (n.*1718+26_*1718+34dup) c.*772+26_*772+34dup (n.*772+26_*772+34dup) c.3144+26_3144+34dup (n.3144+26_3144+34dup) c.158+26_158+34dup c.3123+26_3123+34dup (n.3123+26_3123+34dup) n.1960+26_1960+34dup c.1722+26_1722+34dup (n.1722+26_1722+34dup) c.2031+26_2031+34dup (n.2031+26_2031+34dup) n.3068+26_3068+34dup | gnomAD v3 gnomAD v4 |
16 | g.47698613_47698622dup | CA2633050264 | PHKB | c.*1718+25_*1718+34dup (n.*1718+25_*1718+34dup) c.*772+25_*772+34dup (n.*772+25_*772+34dup) c.3144+25_3144+34dup (n.3144+25_3144+34dup) c.158+25_158+34dup c.3123+25_3123+34dup (n.3123+25_3123+34dup) n.1960+25_1960+34dup c.1722+25_1722+34dup (n.1722+25_1722+34dup) c.2031+25_2031+34dup (n.2031+25_2031+34dup) n.3068+25_3068+34dup | gnomAD v4 |
16 | g.47698612_47698622dup | CA2633050265 | PHKB | c.*1718+24_*1718+34dup (n.*1718+24_*1718+34dup) c.*772+24_*772+34dup (n.*772+24_*772+34dup) c.3144+24_3144+34dup (n.3144+24_3144+34dup) c.158+24_158+34dup c.3123+24_3123+34dup (n.3123+24_3123+34dup) n.1960+24_1960+34dup c.1722+24_1722+34dup (n.1722+24_1722+34dup) c.2031+24_2031+34dup (n.2031+24_2031+34dup) n.3068+24_3068+34dup | gnomAD v4 |
16 | g.47698611_47698622dup | CA2633050266 | PHKB | c.*1718+23_*1718+34dup (n.*1718+23_*1718+34dup) c.*772+23_*772+34dup (n.*772+23_*772+34dup) c.3144+23_3144+34dup (n.3144+23_3144+34dup) c.158+23_158+34dup c.3123+23_3123+34dup (n.3123+23_3123+34dup) n.1960+23_1960+34dup c.1722+23_1722+34dup (n.1722+23_1722+34dup) c.2031+23_2031+34dup (n.2031+23_2031+34dup) n.3068+23_3068+34dup | gnomAD v4 |
16 | g.47698610_47698622dup | CA2633050267 | PHKB | c.*1718+22_*1718+34dup (n.*1718+22_*1718+34dup) c.*772+22_*772+34dup (n.*772+22_*772+34dup) c.3144+22_3144+34dup (n.3144+22_3144+34dup) c.158+22_158+34dup c.3123+22_3123+34dup (n.3123+22_3123+34dup) n.1960+22_1960+34dup c.1722+22_1722+34dup (n.1722+22_1722+34dup) c.2031+22_2031+34dup (n.2031+22_2031+34dup) n.3068+22_3068+34dup | gnomAD v4 |
16 | g.47698609_47698622dup | CA977063084 | PHKB | c.*1718+21_*1718+34dup (n.*1718+21_*1718+34dup) c.*772+21_*772+34dup (n.*772+21_*772+34dup) c.3144+21_3144+34dup (n.3144+21_3144+34dup) c.158+21_158+34dup c.3123+21_3123+34dup (n.3123+21_3123+34dup) n.1960+21_1960+34dup c.1722+21_1722+34dup (n.1722+21_1722+34dup) c.2031+21_2031+34dup (n.2031+21_2031+34dup) n.3068+21_3068+34dup | gnomAD v3 gnomAD v4 |
16 | g.47698608_47698622dup | CA2633050268 | PHKB | c.*1718+20_*1718+34dup (n.*1718+20_*1718+34dup) c.*772+20_*772+34dup (n.*772+20_*772+34dup) c.3144+20_3144+34dup (n.3144+20_3144+34dup) c.158+20_158+34dup c.3123+20_3123+34dup (n.3123+20_3123+34dup) n.1960+20_1960+34dup c.1722+20_1722+34dup (n.1722+20_1722+34dup) c.2031+20_2031+34dup (n.2031+20_2031+34dup) n.3068+20_3068+34dup | gnomAD v4 |
16 | g.47698607_47698622dup | CA977063080 | PHKB | c.*1718+19_*1718+34dup (n.*1718+19_*1718+34dup) c.*772+19_*772+34dup (n.*772+19_*772+34dup) c.3144+19_3144+34dup (n.3144+19_3144+34dup) c.158+19_158+34dup c.3123+19_3123+34dup (n.3123+19_3123+34dup) n.1960+19_1960+34dup c.1722+19_1722+34dup (n.1722+19_1722+34dup) c.2031+19_2031+34dup (n.2031+19_2031+34dup) n.3068+19_3068+34dup | gnomAD v3 gnomAD v4 |
16 | g.47698606_47698622dup | CA2633050269 | PHKB | c.*1718+18_*1718+34dup (n.*1718+18_*1718+34dup) c.*772+18_*772+34dup (n.*772+18_*772+34dup) c.3144+18_3144+34dup (n.3144+18_3144+34dup) c.158+18_158+34dup c.3123+18_3123+34dup (n.3123+18_3123+34dup) n.1960+18_1960+34dup c.1722+18_1722+34dup (n.1722+18_1722+34dup) c.2031+18_2031+34dup (n.2031+18_2031+34dup) n.3068+18_3068+34dup | gnomAD v4 |
16 | g.47698605_47698622dup | CA915940394 | PHKB | c.*1718+17_*1718+34dup (n.*1718+17_*1718+34dup) c.*772+17_*772+34dup (n.*772+17_*772+34dup) c.3144+17_3144+34dup (n.3144+17_3144+34dup) c.158+17_158+34dup c.3123+17_3123+34dup (n.3123+17_3123+34dup) n.1960+17_1960+34dup c.1722+17_1722+34dup (n.1722+17_1722+34dup) c.2031+17_2031+34dup (n.2031+17_2031+34dup) n.3068+17_3068+34dup | gnomAD v4 |
16 | g.47698604_47698622dup | CA2633050270 | PHKB | c.*1718+16_*1718+34dup (n.*1718+16_*1718+34dup) c.*772+16_*772+34dup (n.*772+16_*772+34dup) c.3144+16_3144+34dup (n.3144+16_3144+34dup) c.158+16_158+34dup c.3123+16_3123+34dup (n.3123+16_3123+34dup) n.1960+16_1960+34dup c.1722+16_1722+34dup (n.1722+16_1722+34dup) c.2031+16_2031+34dup (n.2031+16_2031+34dup) n.3068+16_3068+34dup | gnomAD v4 |
16 | g.47698603_47698622dup | CA2633050238 | PHKB | c.*1718+15_*1718+34dup (n.*1718+15_*1718+34dup) c.*772+15_*772+34dup (n.*772+15_*772+34dup) c.3144+15_3144+34dup (n.3144+15_3144+34dup) c.158+15_158+34dup c.3123+15_3123+34dup (n.3123+15_3123+34dup) n.1960+15_1960+34dup c.1722+15_1722+34dup (n.1722+15_1722+34dup) c.2031+15_2031+34dup (n.2031+15_2031+34dup) n.3068+15_3068+34dup | gnomAD v4 |
16 | g.47698622del | CA8041449 | PHKB | c.*1718+34del (n.*1718+34del) c.*772+34del (n.*772+34del) c.3144+34del (n.3144+34del) c.158+34del c.3123+34del (n.3123+34del) n.1960+34del c.1722+34del (n.1722+34del) c.2031+34del (n.2031+34del) n.3068+34del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698621_47698622del | CA8041453 | PHKB | c.*1718+33_*1718+34del (n.*1718+33_*1718+34del) c.*772+33_*772+34del (n.*772+33_*772+34del) c.3144+33_3144+34del (n.3144+33_3144+34del) c.158+33_158+34del c.3123+33_3123+34del (n.3123+33_3123+34del) n.1960+33_1960+34del c.1722+33_1722+34del (n.1722+33_1722+34del) c.2031+33_2031+34del (n.2031+33_2031+34del) n.3068+33_3068+34del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698620_47698622del | CA721060134 | PHKB | c.*1718+32_*1718+34del (n.*1718+32_*1718+34del) c.*772+32_*772+34del (n.*772+32_*772+34del) c.3144+32_3144+34del (n.3144+32_3144+34del) c.158+32_158+34del c.3123+32_3123+34del (n.3123+32_3123+34del) n.1960+32_1960+34del c.1722+32_1722+34del (n.1722+32_1722+34del) c.2031+32_2031+34del (n.2031+32_2031+34del) n.3068+32_3068+34del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698619_47698622del | CA721060130 | PHKB | c.*1718+31_*1718+34del (n.*1718+31_*1718+34del) c.*772+31_*772+34del (n.*772+31_*772+34del) c.3144+31_3144+34del (n.3144+31_3144+34del) c.158+31_158+34del c.3123+31_3123+34del (n.3123+31_3123+34del) n.1960+31_1960+34del c.1722+31_1722+34del (n.1722+31_1722+34del) c.2031+31_2031+34del (n.2031+31_2031+34del) n.3068+31_3068+34del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698618_47698622del | CA2633050249 | PHKB | c.*1718+30_*1718+34del (n.*1718+30_*1718+34del) c.*772+30_*772+34del (n.*772+30_*772+34del) c.3144+30_3144+34del (n.3144+30_3144+34del) c.158+30_158+34del c.3123+30_3123+34del (n.3123+30_3123+34del) n.1960+30_1960+34del c.1722+30_1722+34del (n.1722+30_1722+34del) c.2031+30_2031+34del (n.2031+30_2031+34del) n.3068+30_3068+34del | gnomAD v4 |
16 | g.47698617_47698622del | CA721060129 | PHKB | c.*1718+29_*1718+34del (n.*1718+29_*1718+34del) c.*772+29_*772+34del (n.*772+29_*772+34del) c.3144+29_3144+34del (n.3144+29_3144+34del) c.158+29_158+34del c.3123+29_3123+34del (n.3123+29_3123+34del) n.1960+29_1960+34del c.1722+29_1722+34del (n.1722+29_1722+34del) c.2031+29_2031+34del (n.2031+29_2031+34del) n.3068+29_3068+34del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698616_47698622del | CA721060128 | PHKB | c.*1718+28_*1718+34del (n.*1718+28_*1718+34del) c.*772+28_*772+34del (n.*772+28_*772+34del) c.3144+28_3144+34del (n.3144+28_3144+34del) c.158+28_158+34del c.3123+28_3123+34del (n.3123+28_3123+34del) n.1960+28_1960+34del c.1722+28_1722+34del (n.1722+28_1722+34del) c.2031+28_2031+34del (n.2031+28_2031+34del) n.3068+28_3068+34del | dbSNP gnomAD v4 |
16 | g.47698615_47698622del | CA2575984647 | PHKB | c.*1718+27_*1718+34del (n.*1718+27_*1718+34del) c.*772+27_*772+34del (n.*772+27_*772+34del) c.3144+27_3144+34del (n.3144+27_3144+34del) c.158+27_158+34del c.3123+27_3123+34del (n.3123+27_3123+34del) n.1960+27_1960+34del c.1722+27_1722+34del (n.1722+27_1722+34del) c.2031+27_2031+34del (n.2031+27_2031+34del) n.3068+27_3068+34del | gnomAD v4 |
16 | g.47698614_47698622del | CA2633050250 | PHKB | c.*1718+26_*1718+34del (n.*1718+26_*1718+34del) c.*772+26_*772+34del (n.*772+26_*772+34del) c.3144+26_3144+34del (n.3144+26_3144+34del) c.158+26_158+34del c.3123+26_3123+34del (n.3123+26_3123+34del) n.1960+26_1960+34del c.1722+26_1722+34del (n.1722+26_1722+34del) c.2031+26_2031+34del (n.2031+26_2031+34del) n.3068+26_3068+34del | gnomAD v4 |
16 | g.47698613_47698622del | CA977063030 | PHKB | c.*1718+25_*1718+34del (n.*1718+25_*1718+34del) c.*772+25_*772+34del (n.*772+25_*772+34del) c.3144+25_3144+34del (n.3144+25_3144+34del) c.158+25_158+34del c.3123+25_3123+34del (n.3123+25_3123+34del) n.1960+25_1960+34del c.1722+25_1722+34del (n.1722+25_1722+34del) c.2031+25_2031+34del (n.2031+25_2031+34del) n.3068+25_3068+34del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698612_47698622del | CA2220493602 | PHKB | c.*1718+24_*1718+34del (n.*1718+24_*1718+34del) c.*772+24_*772+34del (n.*772+24_*772+34del) c.3144+24_3144+34del (n.3144+24_3144+34del) c.158+24_158+34del c.3123+24_3123+34del (n.3123+24_3123+34del) n.1960+24_1960+34del c.1722+24_1722+34del (n.1722+24_1722+34del) c.2031+24_2031+34del (n.2031+24_2031+34del) n.3068+24_3068+34del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698611_47698622del | CA2633050251 | PHKB | c.*1718+23_*1718+34del (n.*1718+23_*1718+34del) c.*772+23_*772+34del (n.*772+23_*772+34del) c.3144+23_3144+34del (n.3144+23_3144+34del) c.158+23_158+34del c.3123+23_3123+34del (n.3123+23_3123+34del) n.1960+23_1960+34del c.1722+23_1722+34del (n.1722+23_1722+34del) c.2031+23_2031+34del (n.2031+23_2031+34del) n.3068+23_3068+34del | ClinVar gnomAD v4 |
16 | g.47698610_47698622del | CA2633050252 | PHKB | c.*1718+22_*1718+34del (n.*1718+22_*1718+34del) c.*772+22_*772+34del (n.*772+22_*772+34del) c.3144+22_3144+34del (n.3144+22_3144+34del) c.158+22_158+34del c.3123+22_3123+34del (n.3123+22_3123+34del) n.1960+22_1960+34del c.1722+22_1722+34del (n.1722+22_1722+34del) c.2031+22_2031+34del (n.2031+22_2031+34del) n.3068+22_3068+34del | gnomAD v4 |
16 | g.47698602_47698603insA | CA2806912484 | PHKB | c.*1718+14_*1718+15insA (n.*1718+14_*1718+15insA) c.*772+14_*772+15insA (n.*772+14_*772+15insA) c.3144+14_3144+15insA (n.3144+14_3144+15insA) c.158+14_158+15insA c.3123+14_3123+15insA (n.3123+14_3123+15insA) n.1960+14_1960+15insA c.1722+14_1722+15insA (n.1722+14_1722+15insA) c.2031+14_2031+15insA (n.2031+14_2031+15insA) n.3068+14_3068+15insA | |
16 | g.47698602_47698603insC | CA2806912485 | PHKB | c.*1718+14_*1718+15insC (n.*1718+14_*1718+15insC) c.*772+14_*772+15insC (n.*772+14_*772+15insC) c.3144+14_3144+15insC (n.3144+14_3144+15insC) c.158+14_158+15insC c.3123+14_3123+15insC (n.3123+14_3123+15insC) n.1960+14_1960+15insC c.1722+14_1722+15insC (n.1722+14_1722+15insC) c.2031+14_2031+15insC (n.2031+14_2031+15insC) n.3068+14_3068+15insC | |
16 | g.47698602_47698603insG | CA2633050271 | PHKB | c.*1718+14_*1718+15insG (n.*1718+14_*1718+15insG) c.*772+14_*772+15insG (n.*772+14_*772+15insG) c.3144+14_3144+15insG (n.3144+14_3144+15insG) c.158+14_158+15insG c.3123+14_3123+15insG (n.3123+14_3123+15insG) n.1960+14_1960+15insG c.1722+14_1722+15insG (n.1722+14_1722+15insG) c.2031+14_2031+15insG (n.2031+14_2031+15insG) n.3068+14_3068+15insG | gnomAD v4 |
16 | g.47698603T>A | CA2633050272 | PHKB | c.*1718+15T>A (n.*1718+15T>A) c.*772+15T>A (n.*772+15T>A) c.3144+15T>A (n.3144+15T>A) c.158+15T>A c.3123+15T>A (n.3123+15T>A) n.1960+15T>A c.1722+15T>A (n.1722+15T>A) c.2031+15T>A (n.2031+15T>A) n.3068+15T>A | gnomAD v4 |
16 | g.47698603T>G | CA2741483896 | PHKB | c.*1718+15T>G (n.*1718+15T>G) c.*772+15T>G (n.*772+15T>G) c.3144+15T>G (n.3144+15T>G) c.158+15T>G c.3123+15T>G (n.3123+15T>G) n.1960+15T>G c.1722+15T>G (n.1722+15T>G) c.2031+15T>G (n.2031+15T>G) n.3068+15T>G | |
16 | g.47698604_47698605insCTT | CA2806912483 | PHKB | c.*1718+16_*1718+17insCTT (n.*1718+16_*1718+17insCTT) c.*772+16_*772+17insCTT (n.*772+16_*772+17insCTT) c.3144+16_3144+17insCTT (n.3144+16_3144+17insCTT) c.158+16_158+17insCTT c.3123+16_3123+17insCTT (n.3123+16_3123+17insCTT) n.1960+16_1960+17insCTT c.1722+16_1722+17insCTT (n.1722+16_1722+17insCTT) c.2031+16_2031+17insCTT (n.2031+16_2031+17insCTT) n.3068+16_3068+17insCTT | |
16 | g.47698605_47698606insCTTT | CA2806912482 | PHKB | c.*1718+17_*1718+18insCTTT (n.*1718+17_*1718+18insCTTT) c.*772+17_*772+18insCTTT (n.*772+17_*772+18insCTTT) c.3144+17_3144+18insCTTT (n.3144+17_3144+18insCTTT) c.158+17_158+18insCTTT c.3123+17_3123+18insCTTT (n.3123+17_3123+18insCTTT) n.1960+17_1960+18insCTTT c.1722+17_1722+18insCTTT (n.1722+17_1722+18insCTTT) c.2031+17_2031+18insCTTT (n.2031+17_2031+18insCTTT) n.3068+17_3068+18insCTTT | |
16 | g.47698604T>G | CA2633050274 | PHKB | c.*1718+16T>G (n.*1718+16T>G) c.*772+16T>G (n.*772+16T>G) c.3144+16T>G (n.3144+16T>G) c.158+16T>G c.3123+16T>G (n.3123+16T>G) n.1960+16T>G c.1722+16T>G (n.1722+16T>G) c.2031+16T>G (n.2031+16T>G) n.3068+16T>G | gnomAD v4 |
16 | g.47698604T= | CA2220493603 | PHKB | c.*1718+16T= (n.*1718+16T=) c.*772+16T= (n.*772+16T=) c.3144+16T= (n.3144+16T=) c.158+16T= c.3123+16T= (n.3123+16T=) n.1960+16T= c.1722+16T= (n.1722+16T=) c.2031+16T= (n.2031+16T=) n.3068+16T= | |
16 | g.47698605_47698606insCTT | CA2633050273 | PHKB | c.*1718+17_*1718+18insCTT (n.*1718+17_*1718+18insCTT) c.*772+17_*772+18insCTT (n.*772+17_*772+18insCTT) c.3144+17_3144+18insCTT (n.3144+17_3144+18insCTT) c.158+17_158+18insCTT c.3123+17_3123+18insCTT (n.3123+17_3123+18insCTT) n.1960+17_1960+18insCTT c.1722+17_1722+18insCTT (n.1722+17_1722+18insCTT) c.2031+17_2031+18insCTT (n.2031+17_2031+18insCTT) n.3068+17_3068+18insCTT | gnomAD v4 |
16 | g.47698605T>G | CA2806912486 | PHKB | c.*1718+17T>G (n.*1718+17T>G) c.*772+17T>G (n.*772+17T>G) c.3144+17T>G (n.3144+17T>G) c.158+17T>G c.3123+17T>G (n.3123+17T>G) n.1960+17T>G c.1722+17T>G (n.1722+17T>G) c.2031+17T>G (n.2031+17T>G) n.3068+17T>G | |
16 | g.47698605T= | CA2220493604 | PHKB | c.*1718+17T= (n.*1718+17T=) c.*772+17T= (n.*772+17T=) c.3144+17T= (n.3144+17T=) c.158+17T= c.3123+17T= (n.3123+17T=) n.1960+17T= c.1722+17T= (n.1722+17T=) c.2031+17T= (n.2031+17T=) n.3068+17T= | |
16 | g.47698605_47698606insCT | CA622395967 | PHKB | c.*1718+17_*1718+18insCT (n.*1718+17_*1718+18insCT) c.*772+17_*772+18insCT (n.*772+17_*772+18insCT) c.3144+17_3144+18insCT (n.3144+17_3144+18insCT) c.158+17_158+18insCT c.3123+17_3123+18insCT (n.3123+17_3123+18insCT) n.1960+17_1960+18insCT c.1722+17_1722+18insCT (n.1722+17_1722+18insCT) c.2031+17_2031+18insCT (n.2031+17_2031+18insCT) n.3068+17_3068+18insCT | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.47698605_47698606insC | CA495361507 | PHKB | c.*1718+17_*1718+18insC (n.*1718+17_*1718+18insC) c.*772+17_*772+18insC (n.*772+17_*772+18insC) c.3144+17_3144+18insC (n.3144+17_3144+18insC) c.158+17_158+18insC c.3123+17_3123+18insC (n.3123+17_3123+18insC) n.1960+17_1960+18insC c.1722+17_1722+18insC (n.1722+17_1722+18insC) c.2031+17_2031+18insC (n.2031+17_2031+18insC) n.3068+17_3068+18insC | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698606T>C | CA622395971 | PHKB | c.*1718+18T>C (n.*1718+18T>C) c.*772+18T>C (n.*772+18T>C) c.3144+18T>C (n.3144+18T>C) c.158+18T>C c.3123+18T>C (n.3123+18T>C) n.1960+18T>C c.1722+18T>C (n.1722+18T>C) c.2031+18T>C (n.2031+18T>C) n.3068+18T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.47698606T= | CA2220493605 | PHKB | c.*1718+18T= (n.*1718+18T=) c.*772+18T= (n.*772+18T=) c.3144+18T= (n.3144+18T=) c.158+18T= c.3123+18T= (n.3123+18T=) n.1960+18T= c.1722+18T= (n.1722+18T=) c.2031+18T= (n.2031+18T=) n.3068+18T= | |
16 | g.47698607T>C | CA622395973 | PHKB | c.*1718+19T>C (n.*1718+19T>C) c.*772+19T>C (n.*772+19T>C) c.3144+19T>C (n.3144+19T>C) c.158+19T>C c.3123+19T>C (n.3123+19T>C) n.1960+19T>C c.1722+19T>C (n.1722+19T>C) c.2031+19T>C (n.2031+19T>C) n.3068+19T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698607T= | CA2220493606 | PHKB | c.*1718+19T= (n.*1718+19T=) c.*772+19T= (n.*772+19T=) c.3144+19T= (n.3144+19T=) c.158+19T= c.3123+19T= (n.3123+19T=) n.1960+19T= c.1722+19T= (n.1722+19T=) c.2031+19T= (n.2031+19T=) n.3068+19T= | |
16 | g.47698607_47698608insC | CA2633050275 | PHKB | c.*1718+19_*1718+20insC (n.*1718+19_*1718+20insC) c.*772+19_*772+20insC (n.*772+19_*772+20insC) c.3144+19_3144+20insC (n.3144+19_3144+20insC) c.158+19_158+20insC c.3123+19_3123+20insC (n.3123+19_3123+20insC) n.1960+19_1960+20insC c.1722+19_1722+20insC (n.1722+19_1722+20insC) c.2031+19_2031+20insC (n.2031+19_2031+20insC) n.3068+19_3068+20insC | gnomAD v4 |
16 | g.47698608T>C | CA2633050276 | PHKB | c.*1718+20T>C (n.*1718+20T>C) c.*772+20T>C (n.*772+20T>C) c.3144+20T>C (n.3144+20T>C) c.158+20T>C c.3123+20T>C (n.3123+20T>C) n.1960+20T>C c.1722+20T>C (n.1722+20T>C) c.2031+20T>C (n.2031+20T>C) n.3068+20T>C | gnomAD v4 |
16 | g.47698609T>C | CA2535785736 | PHKB | c.*1718+21T>C (n.*1718+21T>C) c.*772+21T>C (n.*772+21T>C) c.3144+21T>C (n.3144+21T>C) c.158+21T>C c.3123+21T>C (n.3123+21T>C) n.1960+21T>C c.1722+21T>C (n.1722+21T>C) c.2031+21T>C (n.2031+21T>C) n.3068+21T>C | gnomAD v4 |
16 | g.47698609_47698610insC | CA2633050277 | PHKB | c.*1718+21_*1718+22insC (n.*1718+21_*1718+22insC) c.*772+21_*772+22insC (n.*772+21_*772+22insC) c.3144+21_3144+22insC (n.3144+21_3144+22insC) c.158+21_158+22insC c.3123+21_3123+22insC (n.3123+21_3123+22insC) n.1960+21_1960+22insC c.1722+21_1722+22insC (n.1722+21_1722+22insC) c.2031+21_2031+22insC (n.2031+21_2031+22insC) n.3068+21_3068+22insC | gnomAD v4 |
16 | g.47698610_47698611insC | CA2562131849 | PHKB | c.*1718+22_*1718+23insC (n.*1718+22_*1718+23insC) c.*772+22_*772+23insC (n.*772+22_*772+23insC) c.3144+22_3144+23insC (n.3144+22_3144+23insC) c.158+22_158+23insC c.3123+22_3123+23insC (n.3123+22_3123+23insC) n.1960+22_1960+23insC c.1722+22_1722+23insC (n.1722+22_1722+23insC) c.2031+22_2031+23insC (n.2031+22_2031+23insC) n.3068+22_3068+23insC | |
16 | g.47698611T>A | CA2732291177 | PHKB | c.*1718+23T>A (n.*1718+23T>A) c.*772+23T>A (n.*772+23T>A) c.3144+23T>A (n.3144+23T>A) c.158+23T>A c.3123+23T>A (n.3123+23T>A) n.1960+23T>A c.1722+23T>A (n.1722+23T>A) c.2031+23T>A (n.2031+23T>A) n.3068+23T>A | dbSNP |
16 | g.47698611T>C | CA2633050278 | PHKB | c.*1718+23T>C (n.*1718+23T>C) c.*772+23T>C (n.*772+23T>C) c.3144+23T>C (n.3144+23T>C) c.158+23T>C c.3123+23T>C (n.3123+23T>C) n.1960+23T>C c.1722+23T>C (n.1722+23T>C) c.2031+23T>C (n.2031+23T>C) n.3068+23T>C | gnomAD v4 |
16 | g.47698611T= | CA2220493607 | PHKB | c.*1718+23T= (n.*1718+23T=) c.*772+23T= (n.*772+23T=) c.3144+23T= (n.3144+23T=) c.158+23T= c.3123+23T= (n.3123+23T=) n.1960+23T= c.1722+23T= (n.1722+23T=) c.2031+23T= (n.2031+23T=) n.3068+23T= | |
16 | g.47698612_47698613insCT | CA2220493608 | PHKB | c.*1718+24_*1718+25insCT (n.*1718+24_*1718+25insCT) c.*772+24_*772+25insCT (n.*772+24_*772+25insCT) c.3144+24_3144+25insCT (n.3144+24_3144+25insCT) c.158+24_158+25insCT c.3123+24_3123+25insCT (n.3123+24_3123+25insCT) n.1960+24_1960+25insCT c.1722+24_1722+25insCT (n.1722+24_1722+25insCT) c.2031+24_2031+25insCT (n.2031+24_2031+25insCT) n.3068+24_3068+25insCT | dbSNP |
16 | g.47698614T= | CA2220493609 | PHKB | c.*1718+26T= (n.*1718+26T=) c.*772+26T= (n.*772+26T=) c.3144+26T= (n.3144+26T=) c.158+26T= c.3123+26T= (n.3123+26T=) n.1960+26T= c.1722+26T= (n.1722+26T=) c.2031+26T= (n.2031+26T=) n.3068+26T= | |
16 | g.47698617_47698618insCTTT | CA977063144 | PHKB | c.*1718+29_*1718+30insCTTT (n.*1718+29_*1718+30insCTTT) c.*772+29_*772+30insCTTT (n.*772+29_*772+30insCTTT) c.3144+29_3144+30insCTTT (n.3144+29_3144+30insCTTT) c.158+29_158+30insCTTT c.3123+29_3123+30insCTTT (n.3123+29_3123+30insCTTT) n.1960+29_1960+30insCTTT c.1722+29_1722+30insCTTT (n.1722+29_1722+30insCTTT) c.2031+29_2031+30insCTTT (n.2031+29_2031+30insCTTT) n.3068+29_3068+30insCTTT | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698616T>C | CA2575984648 | PHKB | c.*1718+28T>C (n.*1718+28T>C) c.*772+28T>C (n.*772+28T>C) c.3144+28T>C (n.3144+28T>C) c.158+28T>C c.3123+28T>C (n.3123+28T>C) n.1960+28T>C c.1722+28T>C (n.1722+28T>C) c.2031+28T>C (n.2031+28T>C) n.3068+28T>C | gnomAD v4 |
16 | g.47698616T= | CA2220493610 | PHKB | c.*1718+28T= (n.*1718+28T=) c.*772+28T= (n.*772+28T=) c.3144+28T= (n.3144+28T=) c.158+28T= c.3123+28T= (n.3123+28T=) n.1960+28T= c.1722+28T= (n.1722+28T=) c.2031+28T= (n.2031+28T=) n.3068+28T= | |
16 | g.47698616_47698617insA | CA2633050279 | PHKB | c.*1718+28_*1718+29insA (n.*1718+28_*1718+29insA) c.*772+28_*772+29insA (n.*772+28_*772+29insA) c.3144+28_3144+29insA (n.3144+28_3144+29insA) c.158+28_158+29insA c.3123+28_3123+29insA (n.3123+28_3123+29insA) n.1960+28_1960+29insA c.1722+28_1722+29insA (n.1722+28_1722+29insA) c.2031+28_2031+29insA (n.2031+28_2031+29insA) n.3068+28_3068+29insA | gnomAD v4 |
16 | g.47698616_47698617insC | CA977063149 | PHKB | c.*1718+28_*1718+29insC (n.*1718+28_*1718+29insC) c.*772+28_*772+29insC (n.*772+28_*772+29insC) c.3144+28_3144+29insC (n.3144+28_3144+29insC) c.158+28_158+29insC c.3123+28_3123+29insC (n.3123+28_3123+29insC) n.1960+28_1960+29insC c.1722+28_1722+29insC (n.1722+28_1722+29insC) c.2031+28_2031+29insC (n.2031+28_2031+29insC) n.3068+28_3068+29insC | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698617_47698618insCT | CA2633050280 | PHKB | c.*1718+29_*1718+30insCT (n.*1718+29_*1718+30insCT) c.*772+29_*772+30insCT (n.*772+29_*772+30insCT) c.3144+29_3144+30insCT (n.3144+29_3144+30insCT) c.158+29_158+30insCT c.3123+29_3123+30insCT (n.3123+29_3123+30insCT) n.1960+29_1960+30insCT c.1722+29_1722+30insCT (n.1722+29_1722+30insCT) c.2031+29_2031+30insCT (n.2031+29_2031+30insCT) n.3068+29_3068+30insCT | gnomAD v4 |
16 | g.47698617_47698618insC | CA2633050281 | PHKB | c.*1718+29_*1718+30insC (n.*1718+29_*1718+30insC) c.*772+29_*772+30insC (n.*772+29_*772+30insC) c.3144+29_3144+30insC (n.3144+29_3144+30insC) c.158+29_158+30insC c.3123+29_3123+30insC (n.3123+29_3123+30insC) n.1960+29_1960+30insC c.1722+29_1722+30insC (n.1722+29_1722+30insC) c.2031+29_2031+30insC (n.2031+29_2031+30insC) n.3068+29_3068+30insC | gnomAD v4 |
16 | g.47698623_47698630del | CA2633050282 | PHKB | c.*1718+35_*1718+42del (n.*1718+35_*1718+42del) c.*772+35_*772+42del (n.*772+35_*772+42del) c.3144+35_3144+42del (n.3144+35_3144+42del) c.158+35_158+42del c.3123+35_3123+42del (n.3123+35_3123+42del) n.1960+35_1960+42del c.1722+35_1722+42del (n.1722+35_1722+42del) c.2031+35_2031+42del (n.2031+35_2031+42del) n.3068+35_3068+42del | gnomAD v4 |
16 | g.47698620_47698621insG | CA2633050283 | PHKB | c.*1718+32_*1718+33insG (n.*1718+32_*1718+33insG) c.*772+32_*772+33insG (n.*772+32_*772+33insG) c.3144+32_3144+33insG (n.3144+32_3144+33insG) c.158+32_158+33insG c.3123+32_3123+33insG (n.3123+32_3123+33insG) n.1960+32_1960+33insG c.1722+32_1722+33insG (n.1722+32_1722+33insG) c.2031+32_2031+33insG (n.2031+32_2031+33insG) n.3068+32_3068+33insG | gnomAD v4 |
16 | g.47698622_47698623insTTAGAATTTTTTTATT | CA977063151 | PHKB | c.*1718+34_*1718+35insTTAGAATTTTTTTATT (n.*1718+34_*1718+35insTTAGAATTTTTTTATT) c.*772+34_*772+35insTTAGAATTTTTTTATT (n.*772+34_*772+35insTTAGAATTTTTTTATT) c.3144+34_3144+35insTTAGAATTTTTTTATT (n.3144+34_3144+35insTTAGAATTTTTTTATT) c.158+34_158+35insTTAGAATTTTTTTATT c.3123+34_3123+35insTTAGAATTTTTTTATT (n.3123+34_3123+35insTTAGAATTTTTTTATT) n.1960+34_1960+35insTTAGAATTTTTTTATT c.1722+34_1722+35insTTAGAATTTTTTTATT (n.1722+34_1722+35insTTAGAATTTTTTTATT) c.2031+34_2031+35insTTAGAATTTTTTTATT (n.2031+34_2031+35insTTAGAATTTTTTTATT) n.3068+34_3068+35insTTAGAATTTTTTTATT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTAGAATTTTTTTATTTTTTTAATT | CA2567343123 | PHKB | c.*1718+34_*1718+35insTTAGAATTTTTTTATTTTTTTAATT (n.*1718+34_*1718+35insTTAGAATTTTTTTATTTTTTTAATT) c.*772+34_*772+35insTTAGAATTTTTTTATTTTTTTAATT (n.*772+34_*772+35insTTAGAATTTTTTTATTTTTTTAATT) c.3144+34_3144+35insTTAGAATTTTTTTATTTTTTTAATT (n.3144+34_3144+35insTTAGAATTTTTTTATTTTTTTAATT) c.158+34_158+35insTTAGAATTTTTTTATTTTTTTAATT c.3123+34_3123+35insTTAGAATTTTTTTATTTTTTTAATT (n.3123+34_3123+35insTTAGAATTTTTTTATTTTTTTAATT) n.1960+34_1960+35insTTAGAATTTTTTTATTTTTTTAATT c.1722+34_1722+35insTTAGAATTTTTTTATTTTTTTAATT (n.1722+34_1722+35insTTAGAATTTTTTTATTTTTTTAATT) c.2031+34_2031+35insTTAGAATTTTTTTATTTTTTTAATT (n.2031+34_2031+35insTTAGAATTTTTTTATTTTTTTAATT) n.3068+34_3068+35insTTAGAATTTTTTTATTTTTTTAATT | |
16 | g.47698621_47698623del | CA2575984649 | PHKB | c.*1718+33_*1718+35del (n.*1718+33_*1718+35del) c.*772+33_*772+35del (n.*772+33_*772+35del) c.3144+33_3144+35del (n.3144+33_3144+35del) c.158+33_158+35del c.3123+33_3123+35del (n.3123+33_3123+35del) n.1960+33_1960+35del c.1722+33_1722+35del (n.1722+33_1722+35del) c.2031+33_2031+35del (n.2031+33_2031+35del) n.3068+33_3068+35del | |
16 | g.47698621_47698623delinsTTG | CA2220493611 | PHKB | c.*1718+33_*1718+35delinsTTG (n.*1718+33_*1718+35delinsTTG) c.*772+33_*772+35delinsTTG (n.*772+33_*772+35delinsTTG) c.3144+33_3144+35delinsTTG (n.3144+33_3144+35delinsTTG) c.158+33_158+35delinsTTG c.3123+33_3123+35delinsTTG (n.3123+33_3123+35delinsTTG) n.1960+33_1960+35delinsTTG c.1722+33_1722+35delinsTTG (n.1722+33_1722+35delinsTTG) c.2031+33_2031+35delinsTTG (n.2031+33_2031+35delinsTTG) n.3068+33_3068+35delinsTTG | |
16 | g.47698623_47698629del | CA977063152 | PHKB | c.*1718+35_*1718+41del (n.*1718+35_*1718+41del) c.*772+35_*772+41del (n.*772+35_*772+41del) c.3144+35_3144+41del (n.3144+35_3144+41del) c.158+35_158+41del c.3123+35_3123+41del (n.3123+35_3123+41del) n.1960+35_1960+41del c.1722+35_1722+41del (n.1722+35_1722+41del) c.2031+35_2031+41del (n.2031+35_2031+41del) n.3068+35_3068+41del | gnomAD v3 gnomAD v4 |
16 | g.47698622T>G | CA2575984650 | PHKB | c.*1718+34T>G (n.*1718+34T>G) c.*772+34T>G (n.*772+34T>G) c.3144+34T>G (n.3144+34T>G) c.158+34T>G c.3123+34T>G (n.3123+34T>G) n.1960+34T>G c.1722+34T>G (n.1722+34T>G) c.2031+34T>G (n.2031+34T>G) n.3068+34T>G | gnomAD v4 |
16 | g.47698622T= | CA2220493615 | PHKB | c.*1718+34T= (n.*1718+34T=) c.*772+34T= (n.*772+34T=) c.3144+34T= (n.3144+34T=) c.158+34T= c.3123+34T= (n.3123+34T=) n.1960+34T= c.1722+34T= (n.1722+34T=) c.2031+34T= (n.2031+34T=) n.3068+34T= | |
16 | g.47698622_47698623insTTAGAATTTTTTTAT | CA977063177 | PHKB | c.*1718+34_*1718+35insTTAGAATTTTTTTAT (n.*1718+34_*1718+35insTTAGAATTTTTTTAT) c.*772+34_*772+35insTTAGAATTTTTTTAT (n.*772+34_*772+35insTTAGAATTTTTTTAT) c.3144+34_3144+35insTTAGAATTTTTTTAT (n.3144+34_3144+35insTTAGAATTTTTTTAT) c.158+34_158+35insTTAGAATTTTTTTAT c.3123+34_3123+35insTTAGAATTTTTTTAT (n.3123+34_3123+35insTTAGAATTTTTTTAT) n.1960+34_1960+35insTTAGAATTTTTTTAT c.1722+34_1722+35insTTAGAATTTTTTTAT (n.1722+34_1722+35insTTAGAATTTTTTTAT) c.2031+34_2031+35insTTAGAATTTTTTTAT (n.2031+34_2031+35insTTAGAATTTTTTTAT) n.3068+34_3068+35insTTAGAATTTTTTTAT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTAGAATTTTTTTATTGT | CA2594981290 | PHKB | c.*1718+34_*1718+35insTTAGAATTTTTTTATTGT (n.*1718+34_*1718+35insTTAGAATTTTTTTATTGT) c.*772+34_*772+35insTTAGAATTTTTTTATTGT (n.*772+34_*772+35insTTAGAATTTTTTTATTGT) c.3144+34_3144+35insTTAGAATTTTTTTATTGT (n.3144+34_3144+35insTTAGAATTTTTTTATTGT) c.158+34_158+35insTTAGAATTTTTTTATTGT c.3123+34_3123+35insTTAGAATTTTTTTATTGT (n.3123+34_3123+35insTTAGAATTTTTTTATTGT) n.1960+34_1960+35insTTAGAATTTTTTTATTGT c.1722+34_1722+35insTTAGAATTTTTTTATTGT (n.1722+34_1722+35insTTAGAATTTTTTTATTGT) c.2031+34_2031+35insTTAGAATTTTTTTATTGT (n.2031+34_2031+35insTTAGAATTTTTTTATTGT) n.3068+34_3068+35insTTAGAATTTTTTTATTGT | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623del | CA2220493612 | PHKB | c.*1718+34_*1718+35del (n.*1718+34_*1718+35del) c.*772+34_*772+35del (n.*772+34_*772+35del) c.3144+34_3144+35del (n.3144+34_3144+35del) c.158+34_158+35del c.3123+34_3123+35del (n.3123+34_3123+35del) n.1960+34_1960+35del c.1722+34_1722+35del (n.1722+34_1722+35del) c.2031+34_2031+35del (n.2031+34_2031+35del) n.3068+34_3068+35del | dbSNP gnomAD v4 |
16 | g.47698622_47698623delinsTG | CA2220493614 | PHKB | c.*1718+34_*1718+35delinsTG (n.*1718+34_*1718+35delinsTG) c.*772+34_*772+35delinsTG (n.*772+34_*772+35delinsTG) c.3144+34_3144+35delinsTG (n.3144+34_3144+35delinsTG) c.158+34_158+35delinsTG c.3123+34_3123+35delinsTG (n.3123+34_3123+35delinsTG) n.1960+34_1960+35delinsTG c.1722+34_1722+35delinsTG (n.1722+34_1722+35delinsTG) c.2031+34_2031+35delinsTG (n.2031+34_2031+35delinsTG) n.3068+34_3068+35delinsTG | |
16 | g.47698622_47698624delinsTGA | CA2220493616 | PHKB | c.*1718+34_*1718+36delinsTGA (n.*1718+34_*1718+36delinsTGA) c.*772+34_*772+36delinsTGA (n.*772+34_*772+36delinsTGA) c.3144+34_3144+36delinsTGA (n.3144+34_3144+36delinsTGA) c.158+34_158+36delinsTGA c.3123+34_3123+36delinsTGA (n.3123+34_3123+36delinsTGA) n.1960+34_1960+36delinsTGA c.1722+34_1722+36delinsTGA (n.1722+34_1722+36delinsTGA) c.2031+34_2031+36delinsTGA (n.2031+34_2031+36delinsTGA) n.3068+34_3068+36delinsTGA | |
16 | g.47698622_47698626delinsTGAGA | CA2220493613 | PHKB | c.*1718+34_*1718+38delinsTGAGA (n.*1718+34_*1718+38delinsTGAGA) c.*772+34_*772+38delinsTGAGA (n.*772+34_*772+38delinsTGAGA) c.3144+34_3144+38delinsTGAGA (n.3144+34_3144+38delinsTGAGA) c.158+34_158+38delinsTGAGA c.3123+34_3123+38delinsTGAGA (n.3123+34_3123+38delinsTGAGA) n.1960+34_1960+38delinsTGAGA c.1722+34_1722+38delinsTGAGA (n.1722+34_1722+38delinsTGAGA) c.2031+34_2031+38delinsTGAGA (n.2031+34_2031+38delinsTGAGA) n.3068+34_3068+38delinsTGAGA | |
16 | g.47698622_47698627delinsTGAGAA | CA2220493617 | PHKB | c.*1718+34_*1718+39delinsTGAGAA (n.*1718+34_*1718+39delinsTGAGAA) c.*772+34_*772+39delinsTGAGAA (n.*772+34_*772+39delinsTGAGAA) c.3144+34_3144+39delinsTGAGAA (n.3144+34_3144+39delinsTGAGAA) c.158+34_158+39delinsTGAGAA c.3123+34_3123+39delinsTGAGAA (n.3123+34_3123+39delinsTGAGAA) n.1960+34_1960+39delinsTGAGAA c.1722+34_1722+39delinsTGAGAA (n.1722+34_1722+39delinsTGAGAA) c.2031+34_2031+39delinsTGAGAA (n.2031+34_2031+39delinsTGAGAA) n.3068+34_3068+39delinsTGAGAA | |
16 | g.47698623_47698628del | CA977063178 | PHKB | c.*1718+35_*1718+40del (n.*1718+35_*1718+40del) c.*772+35_*772+40del (n.*772+35_*772+40del) c.3144+35_3144+40del (n.3144+35_3144+40del) c.158+35_158+40del c.3123+35_3123+40del (n.3123+35_3123+40del) n.1960+35_1960+40del c.1722+35_1722+40del (n.1722+35_1722+40del) c.2031+35_2031+40del (n.2031+35_2031+40del) n.3068+35_3068+40del | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTG | CA977063231 | PHKB | c.*1718+34_*1718+35insTG (n.*1718+34_*1718+35insTG) c.*772+34_*772+35insTG (n.*772+34_*772+35insTG) c.3144+34_3144+35insTG (n.3144+34_3144+35insTG) c.158+34_158+35insTG c.3123+34_3123+35insTG (n.3123+34_3123+35insTG) n.1960+34_1960+35insTG c.1722+34_1722+35insTG (n.1722+34_1722+35insTG) c.2031+34_2031+35insTG (n.2031+34_2031+35insTG) n.3068+34_3068+35insTG | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTA | CA977063230 | PHKB | c.*1718+34_*1718+35insTTA (n.*1718+34_*1718+35insTTA) c.*772+34_*772+35insTTA (n.*772+34_*772+35insTTA) c.3144+34_3144+35insTTA (n.3144+34_3144+35insTTA) c.158+34_158+35insTTA c.3123+34_3123+35insTTA (n.3123+34_3123+35insTTA) n.1960+34_1960+35insTTA c.1722+34_1722+35insTTA (n.1722+34_1722+35insTTA) c.2031+34_2031+35insTTA (n.2031+34_2031+35insTTA) n.3068+34_3068+35insTTA | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTA | CA2633050284 | PHKB | c.*1718+34_*1718+35insTTTA (n.*1718+34_*1718+35insTTTA) c.*772+34_*772+35insTTTA (n.*772+34_*772+35insTTTA) c.3144+34_3144+35insTTTA (n.3144+34_3144+35insTTTA) c.158+34_158+35insTTTA c.3123+34_3123+35insTTTA (n.3123+34_3123+35insTTTA) n.1960+34_1960+35insTTTA c.1722+34_1722+35insTTTA (n.1722+34_1722+35insTTTA) c.2031+34_2031+35insTTTA (n.2031+34_2031+35insTTTA) n.3068+34_3068+35insTTTA | gnomAD v4 |
16 | g.47698622_47698623insTTTG | CA977063229 | PHKB | c.*1718+34_*1718+35insTTTG (n.*1718+34_*1718+35insTTTG) c.*772+34_*772+35insTTTG (n.*772+34_*772+35insTTTG) c.3144+34_3144+35insTTTG (n.3144+34_3144+35insTTTG) c.158+34_158+35insTTTG c.3123+34_3123+35insTTTG (n.3123+34_3123+35insTTTG) n.1960+34_1960+35insTTTG c.1722+34_1722+35insTTTG (n.1722+34_1722+35insTTTG) c.2031+34_2031+35insTTTG (n.2031+34_2031+35insTTTG) n.3068+34_3068+35insTTTG | gnomAD v3 gnomAD v4 |
16 | g.47698622_47698623insTTTTA | CA977063227 | PHKB | c.*1718+34_*1718+35insTTTTA (n.*1718+34_*1718+35insTTTTA) c.*772+34_*772+35insTTTTA (n.*772+34_*772+35insTTTTA) c.3144+34_3144+35insTTTTA (n.3144+34_3144+35insTTTTA) c.158+34_158+35insTTTTA c.3123+34_3123+35insTTTTA (n.3123+34_3123+35insTTTTA) n.1960+34_1960+35insTTTTA c.1722+34_1722+35insTTTTA (n.1722+34_1722+35insTTTTA) c.2031+34_2031+35insTTTTA (n.2031+34_2031+35insTTTTA) n.3068+34_3068+35insTTTTA | gnomAD v3 gnomAD v4 |
16 | g.47698623del | CA977063225 | PHKB | c.*1718+35del (n.*1718+35del) c.*772+35del (n.*772+35del) c.3144+35del (n.3144+35del) c.158+35del c.3123+35del (n.3123+35del) n.1960+35del c.1722+35del (n.1722+35del) c.2031+35del (n.2031+35del) n.3068+35del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698623G>A | CA977063190 | PHKB | c.*1718+35G>A (n.*1718+35G>A) c.*772+35G>A (n.*772+35G>A) c.3144+35G>A (n.3144+35G>A) c.158+35G>A c.3123+35G>A (n.3123+35G>A) n.1960+35G>A c.1722+35G>A (n.1722+35G>A) c.2031+35G>A (n.2031+35G>A) n.3068+35G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698623G= | CA2220493619 | PHKB | c.*1718+35G= (n.*1718+35G=) c.*772+35G= (n.*772+35G=) c.3144+35G= (n.3144+35G=) c.158+35G= c.3123+35G= (n.3123+35G=) n.1960+35G= c.1722+35G= (n.1722+35G=) c.2031+35G= (n.2031+35G=) n.3068+35G= | |
16 | g.47698623G>T | CA8041455 | PHKB | c.*1718+35G>T (n.*1718+35G>T) c.*772+35G>T (n.*772+35G>T) c.3144+35G>T (n.3144+35G>T) c.158+35G>T c.3123+35G>T (n.3123+35G>T) n.1960+35G>T c.1722+35G>T (n.1722+35G>T) c.2031+35G>T (n.2031+35G>T) n.3068+35G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698623dup | CA2220493618 | PHKB | c.*1718+35dup (n.*1718+35dup) c.*772+35dup (n.*772+35dup) c.3144+35dup (n.3144+35dup) c.158+35dup c.3123+35dup (n.3123+35dup) n.1960+35dup c.1722+35dup (n.1722+35dup) c.2031+35dup (n.2031+35dup) n.3068+35dup | dbSNP |
16 | g.47698623_47698625del | CA977063222 | PHKB | c.*1718+35_*1718+37del (n.*1718+35_*1718+37del) c.*772+35_*772+37del (n.*772+35_*772+37del) c.3144+35_3144+37del (n.3144+35_3144+37del) c.158+35_158+37del c.3123+35_3123+37del (n.3123+35_3123+37del) n.1960+35_1960+37del c.1722+35_1722+37del (n.1722+35_1722+37del) c.2031+35_2031+37del (n.2031+35_2031+37del) n.3068+35_3068+37del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698623_47698626del | CA622395978 | PHKB | c.*1718+35_*1718+38del (n.*1718+35_*1718+38del) c.*772+35_*772+38del (n.*772+35_*772+38del) c.3144+35_3144+38del (n.3144+35_3144+38del) c.158+35_158+38del c.3123+35_3123+38del (n.3123+35_3123+38del) n.1960+35_1960+38del c.1722+35_1722+38del (n.1722+35_1722+38del) c.2031+35_2031+38del (n.2031+35_2031+38del) n.3068+35_3068+38del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698625_47698626del | CA622395980 | PHKB | c.*1718+37_*1718+38del (n.*1718+37_*1718+38del) c.*772+37_*772+38del (n.*772+37_*772+38del) c.3144+37_3144+38del (n.3144+37_3144+38del) c.158+37_158+38del c.3123+37_3123+38del (n.3123+37_3123+38del) n.1960+37_1960+38del c.1722+37_1722+38del (n.1722+37_1722+38del) c.2031+37_2031+38del (n.2031+37_2031+38del) n.3068+37_3068+38del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698623_47698627del | CA8041454 | PHKB | c.*1718+35_*1718+39del (n.*1718+35_*1718+39del) c.*772+35_*772+39del (n.*772+35_*772+39del) c.3144+35_3144+39del (n.3144+35_3144+39del) c.158+35_158+39del c.3123+35_3123+39del (n.3123+35_3123+39del) n.1960+35_1960+39del c.1722+35_1722+39del (n.1722+35_1722+39del) c.2031+35_2031+39del (n.2031+35_2031+39del) n.3068+35_3068+39del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698623_47698635del | CA2633050285 | PHKB | c.*1718+35_*1718+47del (n.*1718+35_*1718+47del) c.*772+35_*772+47del (n.*772+35_*772+47del) c.3144+35_3144+47del (n.3144+35_3144+47del) c.158+35_158+47del c.3123+35_3123+47del (n.3123+35_3123+47del) n.1960+35_1960+47del c.1722+35_1722+47del (n.1722+35_1722+47del) c.2031+35_2031+47del (n.2031+35_2031+47del) n.3068+35_3068+47del | gnomAD v4 |
16 | g.47698624del | CA977063244 | PHKB | c.*1718+36del (n.*1718+36del) c.*772+36del (n.*772+36del) c.3144+36del (n.3144+36del) c.158+36del c.3123+36del (n.3123+36del) n.1960+36del c.1722+36del (n.1722+36del) c.2031+36del (n.2031+36del) n.3068+36del | gnomAD v3 gnomAD v4 |
16 | g.47698624A= | CA2220493620 | PHKB | c.*1718+36A= (n.*1718+36A=) c.*772+36A= (n.*772+36A=) c.3144+36A= (n.3144+36A=) c.158+36A= c.3123+36A= (n.3123+36A=) n.1960+36A= c.1722+36A= (n.1722+36A=) c.2031+36A= (n.2031+36A=) n.3068+36A= | |
16 | g.47698624A>G | CA280739913 | PHKB | c.*1718+36A>G (n.*1718+36A>G) c.*772+36A>G (n.*772+36A>G) c.3144+36A>G (n.3144+36A>G) c.158+36A>G c.3123+36A>G (n.3123+36A>G) n.1960+36A>G c.1722+36A>G (n.1722+36A>G) c.2031+36A>G (n.2031+36A>G) n.3068+36A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698624A>T | CA280739912 | PHKB | c.*1718+36A>T (n.*1718+36A>T) c.*772+36A>T (n.*772+36A>T) c.3144+36A>T (n.3144+36A>T) c.158+36A>T c.3123+36A>T (n.3123+36A>T) n.1960+36A>T c.1722+36A>T (n.1722+36A>T) c.2031+36A>T (n.2031+36A>T) n.3068+36A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698624_47698625insATTTTTTAATTTTGTAA | CA2806912487 | PHKB | c.*1718+36_*1718+37insATTTTTTAATTTTGTAA (n.*1718+36_*1718+37insATTTTTTAATTTTGTAA) c.*772+36_*772+37insATTTTTTAATTTTGTAA (n.*772+36_*772+37insATTTTTTAATTTTGTAA) c.3144+36_3144+37insATTTTTTAATTTTGTAA (n.3144+36_3144+37insATTTTTTAATTTTGTAA) c.158+36_158+37insATTTTTTAATTTTGTAA c.3123+36_3123+37insATTTTTTAATTTTGTAA (n.3123+36_3123+37insATTTTTTAATTTTGTAA) n.1960+36_1960+37insATTTTTTAATTTTGTAA c.1722+36_1722+37insATTTTTTAATTTTGTAA (n.1722+36_1722+37insATTTTTTAATTTTGTAA) c.2031+36_2031+37insATTTTTTAATTTTGTAA (n.2031+36_2031+37insATTTTTTAATTTTGTAA) n.3068+36_3068+37insATTTTTTAATTTTGTAA | |
16 | g.47698624_47698627del | CA977063246 | PHKB | c.*1718+36_*1718+39del (n.*1718+36_*1718+39del) c.*772+36_*772+39del (n.*772+36_*772+39del) c.3144+36_3144+39del (n.3144+36_3144+39del) c.158+36_158+39del c.3123+36_3123+39del (n.3123+36_3123+39del) n.1960+36_1960+39del c.1722+36_1722+39del (n.1722+36_1722+39del) c.2031+36_2031+39del (n.2031+36_2031+39del) n.3068+36_3068+39del | gnomAD v3 gnomAD v4 |
16 | g.47698625_47698627del | CA977063248 | PHKB | c.*1718+37_*1718+39del (n.*1718+37_*1718+39del) c.*772+37_*772+39del (n.*772+37_*772+39del) c.3144+37_3144+39del (n.3144+37_3144+39del) c.158+37_158+39del c.3123+37_3123+39del (n.3123+37_3123+39del) n.1960+37_1960+39del c.1722+37_1722+39del (n.1722+37_1722+39del) c.2031+37_2031+39del (n.2031+37_2031+39del) n.3068+37_3068+39del | gnomAD v3 gnomAD v4 |
16 | g.47698624_47698625insTTT | CA622395986 | PHKB | c.*1718+36_*1718+37insTTT (n.*1718+36_*1718+37insTTT) c.*772+36_*772+37insTTT (n.*772+36_*772+37insTTT) c.3144+36_3144+37insTTT (n.3144+36_3144+37insTTT) c.158+36_158+37insTTT c.3123+36_3123+37insTTT (n.3123+36_3123+37insTTT) n.1960+36_1960+37insTTT c.1722+36_1722+37insTTT (n.1722+36_1722+37insTTT) c.2031+36_2031+37insTTT (n.2031+36_2031+37insTTT) n.3068+36_3068+37insTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698624_47698625insTTTT | CA977063259 | PHKB | c.*1718+36_*1718+37insTTTT (n.*1718+36_*1718+37insTTTT) c.*772+36_*772+37insTTTT (n.*772+36_*772+37insTTTT) c.3144+36_3144+37insTTTT (n.3144+36_3144+37insTTTT) c.158+36_158+37insTTTT c.3123+36_3123+37insTTTT (n.3123+36_3123+37insTTTT) n.1960+36_1960+37insTTTT c.1722+36_1722+37insTTTT (n.1722+36_1722+37insTTTT) c.2031+36_2031+37insTTTT (n.2031+36_2031+37insTTTT) n.3068+36_3068+37insTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698624_47698625insTTTTT | CA977063262 | PHKB | c.*1718+36_*1718+37insTTTTT (n.*1718+36_*1718+37insTTTTT) c.*772+36_*772+37insTTTTT (n.*772+36_*772+37insTTTTT) c.3144+36_3144+37insTTTTT (n.3144+36_3144+37insTTTTT) c.158+36_158+37insTTTTT c.3123+36_3123+37insTTTTT (n.3123+36_3123+37insTTTTT) n.1960+36_1960+37insTTTTT c.1722+36_1722+37insTTTTT (n.1722+36_1722+37insTTTTT) c.2031+36_2031+37insTTTTT (n.2031+36_2031+37insTTTTT) n.3068+36_3068+37insTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698624_47698625insTTTTTT | CA977063264 | PHKB | c.*1718+36_*1718+37insTTTTTT (n.*1718+36_*1718+37insTTTTTT) c.*772+36_*772+37insTTTTTT (n.*772+36_*772+37insTTTTTT) c.3144+36_3144+37insTTTTTT (n.3144+36_3144+37insTTTTTT) c.158+36_158+37insTTTTTT c.3123+36_3123+37insTTTTTT (n.3123+36_3123+37insTTTTTT) n.1960+36_1960+37insTTTTTT c.1722+36_1722+37insTTTTTT (n.1722+36_1722+37insTTTTTT) c.2031+36_2031+37insTTTTTT (n.2031+36_2031+37insTTTTTT) n.3068+36_3068+37insTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698625del | CA622395987 | PHKB | c.*1718+37del (n.*1718+37del) c.*772+37del (n.*772+37del) c.3144+37del (n.3144+37del) c.158+37del c.3123+37del (n.3123+37del) n.1960+37del c.1722+37del (n.1722+37del) c.2031+37del (n.2031+37del) n.3068+37del | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698625G>A | CA622395985 | PHKB | c.*1718+37G>A (n.*1718+37G>A) c.*772+37G>A (n.*772+37G>A) c.3144+37G>A (n.3144+37G>A) c.158+37G>A c.3123+37G>A (n.3123+37G>A) n.1960+37G>A c.1722+37G>A (n.1722+37G>A) c.2031+37G>A (n.2031+37G>A) n.3068+37G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698625G= | CA2220493621 | PHKB | c.*1718+37G= (n.*1718+37G=) c.*772+37G= (n.*772+37G=) c.3144+37G= (n.3144+37G=) c.158+37G= c.3123+37G= (n.3123+37G=) n.1960+37G= c.1722+37G= (n.1722+37G=) c.2031+37G= (n.2031+37G=) n.3068+37G= | |
16 | g.47698625G>T | CA8041456 | PHKB | c.*1718+37G>T (n.*1718+37G>T) c.*772+37G>T (n.*772+37G>T) c.3144+37G>T (n.3144+37G>T) c.158+37G>T c.3123+37G>T (n.3123+37G>T) n.1960+37G>T c.1722+37G>T (n.1722+37G>T) c.2031+37G>T (n.2031+37G>T) n.3068+37G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.47698625_47698626insT | CA977063279 | PHKB | c.*1718+37_*1718+38insT (n.*1718+37_*1718+38insT) c.*772+37_*772+38insT (n.*772+37_*772+38insT) c.3144+37_3144+38insT (n.3144+37_3144+38insT) c.158+37_158+38insT c.3123+37_3123+38insT (n.3123+37_3123+38insT) n.1960+37_1960+38insT c.1722+37_1722+38insT (n.1722+37_1722+38insT) c.2031+37_2031+38insT (n.2031+37_2031+38insT) n.3068+37_3068+38insT | gnomAD v3 gnomAD v4 |
16 | g.47698625_47698626insTTTT | CA977063276 | PHKB | c.*1718+37_*1718+38insTTTT (n.*1718+37_*1718+38insTTTT) c.*772+37_*772+38insTTTT (n.*772+37_*772+38insTTTT) c.3144+37_3144+38insTTTT (n.3144+37_3144+38insTTTT) c.158+37_158+38insTTTT c.3123+37_3123+38insTTTT (n.3123+37_3123+38insTTTT) n.1960+37_1960+38insTTTT c.1722+37_1722+38insTTTT (n.1722+37_1722+38insTTTT) c.2031+37_2031+38insTTTT (n.2031+37_2031+38insTTTT) n.3068+37_3068+38insTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698625_47698626insTTTTT | CA2741483897 | PHKB | c.*1718+37_*1718+38insTTTTT (n.*1718+37_*1718+38insTTTTT) c.*772+37_*772+38insTTTTT (n.*772+37_*772+38insTTTTT) c.3144+37_3144+38insTTTTT (n.3144+37_3144+38insTTTTT) c.158+37_158+38insTTTTT c.3123+37_3123+38insTTTTT (n.3123+37_3123+38insTTTTT) n.1960+37_1960+38insTTTTT c.1722+37_1722+38insTTTTT (n.1722+37_1722+38insTTTTT) c.2031+37_2031+38insTTTTT (n.2031+37_2031+38insTTTTT) n.3068+37_3068+38insTTTTT | |
16 | g.47698625_47698626insTTTTTT | CA977063280 | PHKB | c.*1718+37_*1718+38insTTTTTT (n.*1718+37_*1718+38insTTTTTT) c.*772+37_*772+38insTTTTTT (n.*772+37_*772+38insTTTTTT) c.3144+37_3144+38insTTTTTT (n.3144+37_3144+38insTTTTTT) c.158+37_158+38insTTTTTT c.3123+37_3123+38insTTTTTT (n.3123+37_3123+38insTTTTTT) n.1960+37_1960+38insTTTTTT c.1722+37_1722+38insTTTTTT (n.1722+37_1722+38insTTTTTT) c.2031+37_2031+38insTTTTTT (n.2031+37_2031+38insTTTTTT) n.3068+37_3068+38insTTTTTT | gnomAD v3 gnomAD v4 |
16 | g.47698625_47698626insTTTTTTT | CA2521472555 | PHKB | c.*1718+37_*1718+38insTTTTTTT (n.*1718+37_*1718+38insTTTTTTT) c.*772+37_*772+38insTTTTTTT (n.*772+37_*772+38insTTTTTTT) c.3144+37_3144+38insTTTTTTT (n.3144+37_3144+38insTTTTTTT) c.158+37_158+38insTTTTTTT c.3123+37_3123+38insTTTTTTT (n.3123+37_3123+38insTTTTTTT) n.1960+37_1960+38insTTTTTTT c.1722+37_1722+38insTTTTTTT (n.1722+37_1722+38insTTTTTTT) c.2031+37_2031+38insTTTTTTT (n.2031+37_2031+38insTTTTTTT) n.3068+37_3068+38insTTTTTTT | |
16 | g.47698626A= | CA2220493622 | PHKB | c.*1718+38A= (n.*1718+38A=) c.*772+38A= (n.*772+38A=) c.3144+38A= (n.3144+38A=) c.158+38A= c.3123+38A= (n.3123+38A=) n.1960+38A= c.1722+38A= (n.1722+38A=) c.2031+38A= (n.2031+38A=) n.3068+38A= | |
16 | g.47698626A>G | CA977063274 | PHKB | c.*1718+38A>G (n.*1718+38A>G) c.*772+38A>G (n.*772+38A>G) c.3144+38A>G (n.3144+38A>G) c.158+38A>G c.3123+38A>G (n.3123+38A>G) n.1960+38A>G c.1722+38A>G (n.1722+38A>G) c.2031+38A>G (n.2031+38A>G) n.3068+38A>G | gnomAD v3 gnomAD v4 |
16 | g.47698626A>T | CA977063272 | PHKB | c.*1718+38A>T (n.*1718+38A>T) c.*772+38A>T (n.*772+38A>T) c.3144+38A>T (n.3144+38A>T) c.158+38A>T c.3123+38A>T (n.3123+38A>T) n.1960+38A>T c.1722+38A>T (n.1722+38A>T) c.2031+38A>T (n.2031+38A>T) n.3068+38A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.47698626_47698627del | CA2633050286 | PHKB | c.*1718+38_*1718+39del (n.*1718+38_*1718+39del) c.*772+38_*772+39del (n.*772+38_*772+39del) c.3144+38_3144+39del (n.3144+38_3144+39del) c.158+38_158+39del c.3123+38_3123+39del (n.3123+38_3123+39del) n.1960+38_1960+39del c.1722+38_1722+39del (n.1722+38_1722+39del) c.2031+38_2031+39del (n.2031+38_2031+39del) n.3068+38_3068+39del | gnomAD v4 |