| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72229915_72229924delinsTCCCTCCAGG | CA1981897832 | INPPL1 | c.844-9_844delinsTCCCTCCAGG c.118-9_118delinsTCCCTCCAGG c.28-9_28delinsTCCCTCCAGG c.646-9_646delinsTCCCTCCAGG c.910-9_910delinsTCCCTCCAGG c.880-9_880delinsTCCCTCCAGG | |
| 11 | g.72229920_72229928del | CA1981897833 | INPPL1 | c.844-4_848del c.118-4_122del c.28-4_32del c.646-4_650del c.910-4_914del c.880-4_884del | dbSNP gnomAD v4 |
| 11 | g.72229920C>T | CA2614932011 | INPPL1 | c.844-4C>T (n.844-4C>T) c.118-4C>T (n.118-4C>T) c.28-4C>T (n.28-4C>T) c.646-4C>T (n.646-4C>T) c.910-4C>T (n.910-4C>T) c.880-4C>T (n.880-4C>T) | gnomAD v4 |
| 11 | g.72229922A>C | CA381722643 | INPPL1 | c.844-2A>C (n.844-2A>C) c.118-2A>C (n.118-2A>C) c.28-2A>C (n.28-2A>C) c.646-2A>C (n.646-2A>C) c.910-2A>C (n.910-2A>C) c.880-2A>C (n.880-2A>C) | |
| 11 | g.72229922A>G | CA381722646 | INPPL1 | c.844-2A>G (n.844-2A>G) c.118-2A>G (n.118-2A>G) c.28-2A>G (n.28-2A>G) c.646-2A>G (n.646-2A>G) c.910-2A>G (n.910-2A>G) c.880-2A>G (n.880-2A>G) | |
| 11 | g.72229922A>T | CA381722654 | INPPL1 | c.844-2A>T (n.844-2A>T) c.118-2A>T (n.118-2A>T) c.28-2A>T (n.28-2A>T) c.646-2A>T (n.646-2A>T) c.910-2A>T (n.910-2A>T) c.880-2A>T (n.880-2A>T) | |
| 11 | g.72229923G>A | CA381722657 | INPPL1 | c.844-1G>A (n.844-1G>A) c.118-1G>A (n.118-1G>A) c.28-1G>A (n.28-1G>A) c.646-1G>A (n.646-1G>A) c.910-1G>A (n.910-1G>A) c.880-1G>A (n.880-1G>A) | |
| 11 | g.72229923G>C | CA381722660 | INPPL1 | c.844-1G>C (n.844-1G>C) c.118-1G>C (n.118-1G>C) c.28-1G>C (n.28-1G>C) c.646-1G>C (n.646-1G>C) c.910-1G>C (n.910-1G>C) c.880-1G>C (n.880-1G>C) | |
| 11 | g.72229923G>T | CA381722662 | INPPL1 | c.844-1G>T (n.844-1G>T) c.118-1G>T (n.118-1G>T) c.28-1G>T (n.28-1G>T) c.646-1G>T (n.646-1G>T) c.910-1G>T (n.910-1G>T) c.880-1G>T (n.880-1G>T) | |
| 11 | g.72229924G>A | CA381722672 | INPPL1 | c.844G>A (p.Ala282Thr) c.118G>A (p.Ala40Thr) c.28G>A (p.Ala10Thr) c.646G>A (p.Ala216Thr) c.910G>A (p.Ala304Thr) c.880G>A (p.Ala294Thr) | |
| 11 | g.72229924G>C | CA381722671 | INPPL1 | c.844G>C (p.Ala282Pro) c.118G>C (p.Ala40Pro) c.28G>C (p.Ala10Pro) c.646G>C (p.Ala216Pro) c.910G>C (p.Ala304Pro) c.880G>C (p.Ala294Pro) | |
| 11 | g.72229924G>T | CA381722669 | INPPL1 | c.844G>T (p.Ala282Ser) c.118G>T (p.Ala40Ser) c.28G>T (p.Ala10Ser) c.646G>T (p.Ala216Ser) c.910G>T (p.Ala304Ser) c.880G>T (p.Ala294Ser) | |
| 11 | g.72229925C>A | CA381722674 | INPPL1 | c.845C>A (p.Ala282Asp) c.119C>A (p.Ala40Asp) c.29C>A (p.Ala10Asp) c.647C>A (p.Ala216Asp) c.911C>A (p.Ala304Asp) c.881C>A (p.Ala294Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72229925C= | CA1981897836 | INPPL1 | c.845C= (p.Ala282=) c.119C= (p.Ala40=) c.29C= (p.Ala10=) c.647C= (p.Ala216=) c.911C= (p.Ala304=) c.881C= (p.Ala294=) | |
| 11 | g.72229925C>G | CA381722677 | INPPL1 | c.845C>G (p.Ala282Gly) c.119C>G (p.Ala40Gly) c.29C>G (p.Ala10Gly) c.647C>G (p.Ala216Gly) c.911C>G (p.Ala304Gly) c.881C>G (p.Ala294Gly) | |
| 11 | g.72229925C>T | CA381722675 | INPPL1 | c.845C>T (p.Ala282Val) c.119C>T (p.Ala40Val) c.29C>T (p.Ala10Val) c.647C>T (p.Ala216Val) c.911C>T (p.Ala304Val) c.881C>T (p.Ala294Val) | |
| 11 | g.72229926C>A | CA475592080 | INPPL1 | c.846C>A (p.Ala282=) c.120C>A (p.Ala40=) c.30C>A (p.Ala10=) c.648C>A (p.Ala216=) c.912C>A (p.Ala304=) c.882C>A (p.Ala294=) | |
| 11 | g.72229926C>G | CA475592083 | INPPL1 | c.846C>G (p.Ala282=) c.120C>G (p.Ala40=) c.30C>G (p.Ala10=) c.648C>G (p.Ala216=) c.912C>G (p.Ala304=) c.882C>G (p.Ala294=) | |
| 11 | g.72229926C>T | CA475592086 | INPPL1 | c.846C>T (p.Ala282=) c.120C>T (p.Ala40=) c.30C>T (p.Ala10=) c.648C>T (p.Ala216=) c.912C>T (p.Ala304=) c.882C>T (p.Ala294=) | gnomAD v4 |
| 11 | g.72229927C>A | CA381722679 | INPPL1 | c.847C>A (p.Leu283Met) c.121C>A (p.Leu41Met) c.31C>A (p.Leu11Met) c.649C>A (p.Leu217Met) c.913C>A (p.Leu305Met) c.883C>A (p.Leu295Met) | |
| 11 | g.72229927C>G | CA381722680 | INPPL1 | c.847C>G (p.Leu283Val) c.121C>G (p.Leu41Val) c.31C>G (p.Leu11Val) c.649C>G (p.Leu217Val) c.913C>G (p.Leu305Val) c.883C>G (p.Leu295Val) | |
| 11 | g.72229927C>T | CA475592092 | INPPL1 | c.847C>T (p.Leu283=) c.121C>T (p.Leu41=) c.31C>T (p.Leu11=) c.649C>T (p.Leu217=) c.913C>T (p.Leu305=) c.883C>T (p.Leu295=) | |
| 11 | g.72229928T>A | CA381722681 | INPPL1 | c.848T>A (p.Leu283Gln) c.122T>A (p.Leu41Gln) c.32T>A (p.Leu11Gln) c.650T>A (p.Leu217Gln) c.914T>A (p.Leu305Gln) c.884T>A (p.Leu295Gln) | |
| 11 | g.72229928T>C | CA381722682 | INPPL1 | c.848T>C (p.Leu283Pro) c.122T>C (p.Leu41Pro) c.32T>C (p.Leu11Pro) c.650T>C (p.Leu217Pro) c.914T>C (p.Leu305Pro) c.884T>C (p.Leu295Pro) | gnomAD v4 |
| 11 | g.72229928T>G | CA381722683 | INPPL1 | c.848T>G (p.Leu283Arg) c.122T>G (p.Leu41Arg) c.32T>G (p.Leu11Arg) c.650T>G (p.Leu217Arg) c.914T>G (p.Leu305Arg) c.884T>G (p.Leu295Arg) | |
| 11 | g.72229929G>A | CA475592112 | INPPL1 | c.849G>A (p.Leu283=) c.123G>A (p.Leu41=) c.33G>A (p.Leu11=) c.651G>A (p.Leu217=) c.915G>A (p.Leu305=) c.885G>A (p.Leu295=) | dbSNP gnomAD v4 |
| 11 | g.72229929G>C | CA475592113 | INPPL1 | c.849G>C (p.Leu283=) c.123G>C (p.Leu41=) c.33G>C (p.Leu11=) c.651G>C (p.Leu217=) c.915G>C (p.Leu305=) c.885G>C (p.Leu295=) | |
| 11 | g.72229929G= | CA1981897837 | INPPL1 | c.849G= (p.Leu283=) c.123G= (p.Leu41=) c.33G= (p.Leu11=) c.651G= (p.Leu217=) c.915G= (p.Leu305=) c.885G= (p.Leu295=) | |
| 11 | g.72229929G>T | CA6169821 | INPPL1 | c.849G>T (p.Leu283=) c.123G>T (p.Leu41=) c.33G>T (p.Leu11=) c.651G>T (p.Leu217=) c.915G>T (p.Leu305=) c.885G>T (p.Leu295=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.72229930A>C | CA381722684 | INPPL1 | c.850A>C (p.Lys284Gln) c.124A>C (p.Lys42Gln) c.34A>C (p.Lys12Gln) c.652A>C (p.Lys218Gln) c.916A>C (p.Lys306Gln) c.886A>C (p.Lys296Gln) | |
| 11 | g.72229930A>G | CA381722686 | INPPL1 | c.850A>G (p.Lys284Glu) c.124A>G (p.Lys42Glu) c.34A>G (p.Lys12Glu) c.652A>G (p.Lys218Glu) c.916A>G (p.Lys306Glu) c.886A>G (p.Lys296Glu) | |
| 11 | g.72229930A>T | CA381722688 | INPPL1 | c.850A>T (p.Lys284Ter) c.124A>T (p.Lys42Ter) c.34A>T (p.Lys12Ter) c.652A>T (p.Lys218Ter) c.916A>T (p.Lys306Ter) c.886A>T (p.Lys296Ter) | |
| 11 | g.72229931A= | CA1981897838 | INPPL1 | c.851A= (p.Lys284=) c.125A= (p.Lys42=) c.35A= (p.Lys12=) c.653A= (p.Lys218=) c.917A= (p.Lys306=) c.887A= (p.Lys296=) | |
| 11 | g.72229931A>C | CA381722691 | INPPL1 | c.851A>C (p.Lys284Thr) c.125A>C (p.Lys42Thr) c.35A>C (p.Lys12Thr) c.653A>C (p.Lys218Thr) c.917A>C (p.Lys306Thr) c.887A>C (p.Lys296Thr) | |
| 11 | g.72229931A>G | CA381722693 | INPPL1 | c.851A>G (p.Lys284Arg) c.125A>G (p.Lys42Arg) c.35A>G (p.Lys12Arg) c.653A>G (p.Lys218Arg) c.917A>G (p.Lys306Arg) c.887A>G (p.Lys296Arg) | |
| 11 | g.72229931A>T | CA381722694 | INPPL1 | c.851A>T (p.Lys284Met) c.125A>T (p.Lys42Met) c.35A>T (p.Lys12Met) c.653A>T (p.Lys218Met) c.917A>T (p.Lys306Met) c.887A>T (p.Lys296Met) | dbSNP gnomAD v2 |
| 11 | g.72229932G>A | CA475592123 | INPPL1 | c.852G>A (p.Lys284=) c.126G>A (p.Lys42=) c.36G>A (p.Lys12=) c.654G>A (p.Lys218=) c.918G>A (p.Lys306=) c.888G>A (p.Lys296=) | dbSNP gnomAD v2 |
| 11 | g.72229932G>C | CA381722695 | INPPL1 | c.852G>C (p.Lys284Asn) c.126G>C (p.Lys42Asn) c.36G>C (p.Lys12Asn) c.654G>C (p.Lys218Asn) c.918G>C (p.Lys306Asn) c.888G>C (p.Lys296Asn) | |
| 11 | g.72229932G= | CA1981897839 | INPPL1 | c.852G= (p.Lys284=) c.126G= (p.Lys42=) c.36G= (p.Lys12=) c.654G= (p.Lys218=) c.918G= (p.Lys306=) c.888G= (p.Lys296=) | |
| 11 | g.72229932G>T | CA381722696 | INPPL1 | c.852G>T (p.Lys284Asn) c.126G>T (p.Lys42Asn) c.36G>T (p.Lys12Asn) c.654G>T (p.Lys218Asn) c.918G>T (p.Lys306Asn) c.888G>T (p.Lys296Asn) | gnomAD v4 |
| 11 | g.72229933G>A | CA381722700 | INPPL1 | c.853G>A (p.Ala285Thr) c.127G>A (p.Ala43Thr) c.37G>A (p.Ala13Thr) c.655G>A (p.Ala219Thr) c.919G>A (p.Ala307Thr) c.889G>A (p.Ala297Thr) | |
| 11 | g.72229933G>C | CA381722703 | INPPL1 | c.853G>C (p.Ala285Pro) c.127G>C (p.Ala43Pro) c.37G>C (p.Ala13Pro) c.655G>C (p.Ala219Pro) c.919G>C (p.Ala307Pro) c.889G>C (p.Ala297Pro) | |
| 11 | g.72229933G>T | CA381722704 | INPPL1 | c.853G>T (p.Ala285Ser) c.127G>T (p.Ala43Ser) c.37G>T (p.Ala13Ser) c.655G>T (p.Ala219Ser) c.919G>T (p.Ala307Ser) c.889G>T (p.Ala297Ser) | |
| 11 | g.72229934C>A | CA381722708 | INPPL1 | c.854C>A (p.Ala285Asp) c.128C>A (p.Ala43Asp) c.38C>A (p.Ala13Asp) c.656C>A (p.Ala219Asp) c.920C>A (p.Ala307Asp) c.890C>A (p.Ala297Asp) | |
| 11 | g.72229934C>G | CA381722710 | INPPL1 | c.854C>G (p.Ala285Gly) c.128C>G (p.Ala43Gly) c.38C>G (p.Ala13Gly) c.656C>G (p.Ala219Gly) c.920C>G (p.Ala307Gly) c.890C>G (p.Ala297Gly) | |
| 11 | g.72229934C>T | CA381722713 | INPPL1 | c.854C>T (p.Ala285Val) c.128C>T (p.Ala43Val) c.38C>T (p.Ala13Val) c.656C>T (p.Ala219Val) c.920C>T (p.Ala307Val) c.890C>T (p.Ala297Val) | |
| 11 | g.72229935C>A | CA475592138 | INPPL1 | c.855C>A (p.Ala285=) c.129C>A (p.Ala43=) c.39C>A (p.Ala13=) c.657C>A (p.Ala219=) c.921C>A (p.Ala307=) c.891C>A (p.Ala297=) | gnomAD v4 |
| 11 | g.72229935C>G | CA475592140 | INPPL1 | c.855C>G (p.Ala285=) c.129C>G (p.Ala43=) c.39C>G (p.Ala13=) c.657C>G (p.Ala219=) c.921C>G (p.Ala307=) c.891C>G (p.Ala297=) | |
| 11 | g.72229935C>T | CA475592142 | INPPL1 | c.855C>T (p.Ala285=) c.129C>T (p.Ala43=) c.39C>T (p.Ala13=) c.657C>T (p.Ala219=) c.921C>T (p.Ala307=) c.891C>T (p.Ala297=) | |
| 11 | g.72229936C>A | CA381722716 | INPPL1 | c.856C>A (p.Leu286Ile) c.130C>A (p.Leu44Ile) c.40C>A (p.Leu14Ile) c.658C>A (p.Leu220Ile) c.922C>A (p.Leu308Ile) c.892C>A (p.Leu298Ile) | |
| 11 | g.72229936C>G | CA381722718 | INPPL1 | c.856C>G (p.Leu286Val) c.130C>G (p.Leu44Val) c.40C>G (p.Leu14Val) c.658C>G (p.Leu220Val) c.922C>G (p.Leu308Val) c.892C>G (p.Leu298Val) | COSMIC |
| 11 | g.72229936C>T | CA475592148 | INPPL1 | c.856C>T (p.Leu286=) c.130C>T (p.Leu44=) c.40C>T (p.Leu14=) c.658C>T (p.Leu220=) c.922C>T (p.Leu308=) c.892C>T (p.Leu298=) | gnomAD v4 |
| 11 | g.72229937T>A | CA381722722 | INPPL1 | c.857T>A (p.Leu286Gln) c.131T>A (p.Leu44Gln) c.41T>A (p.Leu14Gln) c.659T>A (p.Leu220Gln) c.923T>A (p.Leu308Gln) c.893T>A (p.Leu298Gln) | |
| 11 | g.72229937T>C | CA381722739 | INPPL1 | c.857T>C (p.Leu286Pro) c.131T>C (p.Leu44Pro) c.41T>C (p.Leu14Pro) c.659T>C (p.Leu220Pro) c.923T>C (p.Leu308Pro) c.893T>C (p.Leu298Pro) | |
| 11 | g.72229937T>G | CA381722744 | INPPL1 | c.857T>G (p.Leu286Arg) c.131T>G (p.Leu44Arg) c.41T>G (p.Leu14Arg) c.659T>G (p.Leu220Arg) c.923T>G (p.Leu308Arg) c.893T>G (p.Leu298Arg) | |
| 11 | g.72229938A= | CA1981897840 | INPPL1 | c.858A= (p.Leu286=) c.132A= (p.Leu44=) c.42A= (p.Leu14=) c.660A= (p.Leu220=) c.924A= (p.Leu308=) c.894A= (p.Leu298=) | |
| 11 | g.72229938A>C | CA475592159 | INPPL1 | c.858A>C (p.Leu286=) c.132A>C (p.Leu44=) c.42A>C (p.Leu14=) c.660A>C (p.Leu220=) c.924A>C (p.Leu308=) c.894A>C (p.Leu298=) | |
| 11 | g.72229938A>G | CA475592155 | INPPL1 | c.858A>G (p.Leu286=) c.132A>G (p.Leu44=) c.42A>G (p.Leu14=) c.660A>G (p.Leu220=) c.924A>G (p.Leu308=) c.894A>G (p.Leu298=) | |
| 11 | g.72229938A>T | CA224375759 | INPPL1 | c.858A>T (p.Leu286=) c.132A>T (p.Leu44=) c.42A>T (p.Leu14=) c.660A>T (p.Leu220=) c.924A>T (p.Leu308=) c.894A>T (p.Leu298=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229939C>A | CA381722752 | INPPL1 | c.859C>A (p.Gln287Lys) c.133C>A (p.Gln45Lys) c.43C>A (p.Gln15Lys) c.661C>A (p.Gln221Lys) c.925C>A (p.Gln309Lys) c.895C>A (p.Gln299Lys) | |
| 11 | g.72229939C= | CA1981897841 | INPPL1 | c.859C= (p.Gln287=) c.133C= (p.Gln45=) c.43C= (p.Gln15=) c.661C= (p.Gln221=) c.925C= (p.Gln309=) c.895C= (p.Gln299=) | |
| 11 | g.72229939C>G | CA381722755 | INPPL1 | c.859C>G (p.Gln287Glu) c.133C>G (p.Gln45Glu) c.43C>G (p.Gln15Glu) c.661C>G (p.Gln221Glu) c.925C>G (p.Gln309Glu) c.895C>G (p.Gln299Glu) | |
| 11 | g.72229939C>T | CA381722748 | INPPL1 | c.859C>T (p.Gln287Ter) c.133C>T (p.Gln45Ter) c.43C>T (p.Gln15Ter) c.661C>T (p.Gln221Ter) c.925C>T (p.Gln309Ter) c.895C>T (p.Gln299Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72229940A>C | CA381722757 | INPPL1 | c.860A>C (p.Gln287Pro) c.134A>C (p.Gln45Pro) c.44A>C (p.Gln15Pro) c.662A>C (p.Gln221Pro) c.926A>C (p.Gln309Pro) c.896A>C (p.Gln299Pro) | gnomAD v4 |
| 11 | g.72229940A>G | CA381722758 | INPPL1 | c.860A>G (p.Gln287Arg) c.134A>G (p.Gln45Arg) c.44A>G (p.Gln15Arg) c.662A>G (p.Gln221Arg) c.926A>G (p.Gln309Arg) c.896A>G (p.Gln299Arg) | gnomAD v4 |
| 11 | g.72229940A>T | CA381722761 | INPPL1 | c.860A>T (p.Gln287Leu) c.134A>T (p.Gln45Leu) c.44A>T (p.Gln15Leu) c.662A>T (p.Gln221Leu) c.926A>T (p.Gln309Leu) c.896A>T (p.Gln299Leu) | |
| 11 | g.72229941G>A | CA475592173 | INPPL1 | c.861G>A (p.Gln287=) c.135G>A (p.Gln45=) c.45G>A (p.Gln15=) c.663G>A (p.Gln221=) c.927G>A (p.Gln309=) c.897G>A (p.Gln299=) | |
| 11 | g.72229941G>C | CA381722766 | INPPL1 | c.861G>C (p.Gln287His) c.135G>C (p.Gln45His) c.45G>C (p.Gln15His) c.663G>C (p.Gln221His) c.927G>C (p.Gln309His) c.897G>C (p.Gln299His) | |
| 11 | g.72229941G>T | CA381722769 | INPPL1 | c.861G>T (p.Gln287His) c.135G>T (p.Gln45His) c.45G>T (p.Gln15His) c.663G>T (p.Gln221His) c.927G>T (p.Gln309His) c.897G>T (p.Gln299His) | |
| 11 | g.72229942G>A | CA381722772 | INPPL1 | c.862G>A (p.Asp288Asn) c.136G>A (p.Asp46Asn) c.46G>A (p.Asp16Asn) c.664G>A (p.Asp222Asn) c.928G>A (p.Asp310Asn) c.898G>A (p.Asp300Asn) | gnomAD v4 |
| 11 | g.72229942G>C | CA381722776 | INPPL1 | c.862G>C (p.Asp288His) c.136G>C (p.Asp46His) c.46G>C (p.Asp16His) c.664G>C (p.Asp222His) c.928G>C (p.Asp310His) c.898G>C (p.Asp300His) | gnomAD v4 |
| 11 | g.72229942G>T | CA381722785 | INPPL1 | c.862G>T (p.Asp288Tyr) c.136G>T (p.Asp46Tyr) c.46G>T (p.Asp16Tyr) c.664G>T (p.Asp222Tyr) c.928G>T (p.Asp310Tyr) c.898G>T (p.Asp300Tyr) | |
| 11 | g.72229943A= | CA1981897842 | INPPL1 | c.863A= (p.Asp288=) c.137A= (p.Asp46=) c.47A= (p.Asp16=) c.665A= (p.Asp222=) c.929A= (p.Asp310=) c.899A= (p.Asp300=) | |
| 11 | g.72229943A>C | CA381722790 | INPPL1 | c.863A>C (p.Asp288Ala) c.137A>C (p.Asp46Ala) c.47A>C (p.Asp16Ala) c.665A>C (p.Asp222Ala) c.929A>C (p.Asp310Ala) c.899A>C (p.Asp300Ala) | |
| 11 | g.72229943A>G | CA381722795 | INPPL1 | c.863A>G (p.Asp288Gly) c.137A>G (p.Asp46Gly) c.47A>G (p.Asp16Gly) c.665A>G (p.Asp222Gly) c.929A>G (p.Asp310Gly) c.899A>G (p.Asp300Gly) | dbSNP gnomAD v2 |
| 11 | g.72229943A>T | CA381722797 | INPPL1 | c.863A>T (p.Asp288Val) c.137A>T (p.Asp46Val) c.47A>T (p.Asp16Val) c.665A>T (p.Asp222Val) c.929A>T (p.Asp310Val) c.899A>T (p.Asp300Val) | COSMIC |
| 11 | g.72229944C>A | CA381722802 | INPPL1 | c.864C>A (p.Asp288Glu) c.138C>A (p.Asp46Glu) c.48C>A (p.Asp16Glu) c.666C>A (p.Asp222Glu) c.930C>A (p.Asp310Glu) c.900C>A (p.Asp300Glu) | |
| 11 | g.72229944C>G | CA381722806 | INPPL1 | c.864C>G (p.Asp288Glu) c.138C>G (p.Asp46Glu) c.48C>G (p.Asp16Glu) c.666C>G (p.Asp222Glu) c.930C>G (p.Asp310Glu) c.900C>G (p.Asp300Glu) | |
| 11 | g.72229944C>T | CA475592192 | INPPL1 | c.864C>T (p.Asp288=) c.138C>T (p.Asp46=) c.48C>T (p.Asp16=) c.666C>T (p.Asp222=) c.930C>T (p.Asp310=) c.900C>T (p.Asp300=) | |
| 11 | g.72229945A>C | CA381722815 | INPPL1 | c.865A>C (p.Met289Leu) c.139A>C (p.Met47Leu) c.49A>C (p.Met17Leu) c.667A>C (p.Met223Leu) c.931A>C (p.Met311Leu) c.901A>C (p.Met301Leu) | |
| 11 | g.72229945A>G | CA381722813 | INPPL1 | c.865A>G (p.Met289Val) c.139A>G (p.Met47Val) c.49A>G (p.Met17Val) c.667A>G (p.Met223Val) c.931A>G (p.Met311Val) c.901A>G (p.Met301Val) | |
| 11 | g.72229945A>T | CA381722812 | INPPL1 | c.865A>T (p.Met289Leu) c.139A>T (p.Met47Leu) c.49A>T (p.Met17Leu) c.667A>T (p.Met223Leu) c.931A>T (p.Met311Leu) c.901A>T (p.Met301Leu) | gnomAD v4 |
| 11 | g.72229946T>A | CA381722818 | INPPL1 | c.866T>A (p.Met289Lys) c.140T>A (p.Met47Lys) c.50T>A (p.Met17Lys) c.668T>A (p.Met223Lys) c.932T>A (p.Met311Lys) c.902T>A (p.Met301Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229946T>C | CA381722820 | INPPL1 | c.866T>C (p.Met289Thr) c.140T>C (p.Met47Thr) c.50T>C (p.Met17Thr) c.668T>C (p.Met223Thr) c.932T>C (p.Met311Thr) c.902T>C (p.Met301Thr) | gnomAD v4 |
| 11 | g.72229946T>G | CA381722821 | INPPL1 | c.866T>G (p.Met289Arg) c.140T>G (p.Met47Arg) c.50T>G (p.Met17Arg) c.668T>G (p.Met223Arg) c.932T>G (p.Met311Arg) c.902T>G (p.Met301Arg) | gnomAD v4 |
| 11 | g.72229946T= | CA1981897843 | INPPL1 | c.866T= (p.Met289=) c.140T= (p.Met47=) c.50T= (p.Met17=) c.668T= (p.Met223=) c.932T= (p.Met311=) c.902T= (p.Met301=) | |
| 11 | g.72229947G>A | CA381722824 | INPPL1 | c.867G>A (p.Met289Ile) c.141G>A (p.Met47Ile) c.51G>A (p.Met17Ile) c.669G>A (p.Met223Ile) c.933G>A (p.Met311Ile) c.903G>A (p.Met301Ile) | |
| 11 | g.72229947G>C | CA381722825 | INPPL1 | c.867G>C (p.Met289Ile) c.141G>C (p.Met47Ile) c.51G>C (p.Met17Ile) c.669G>C (p.Met223Ile) c.933G>C (p.Met311Ile) c.903G>C (p.Met301Ile) | |
| 11 | g.72229947G>T | CA381722829 | INPPL1 | c.867G>T (p.Met289Ile) c.141G>T (p.Met47Ile) c.51G>T (p.Met17Ile) c.669G>T (p.Met223Ile) c.933G>T (p.Met311Ile) c.903G>T (p.Met301Ile) | |
| 11 | g.72229948A>C | CA381722833 | INPPL1 | c.868A>C (p.Ser290Arg) c.142A>C (p.Ser48Arg) c.52A>C (p.Ser18Arg) c.670A>C (p.Ser224Arg) c.934A>C (p.Ser312Arg) c.904A>C (p.Ser302Arg) | |
| 11 | g.72229948A>G | CA381722837 | INPPL1 | c.868A>G (p.Ser290Gly) c.142A>G (p.Ser48Gly) c.52A>G (p.Ser18Gly) c.670A>G (p.Ser224Gly) c.934A>G (p.Ser312Gly) c.904A>G (p.Ser302Gly) | gnomAD v4 |
| 11 | g.72229948A>T | CA381722842 | INPPL1 | c.868A>T (p.Ser290Cys) c.142A>T (p.Ser48Cys) c.52A>T (p.Ser18Cys) c.670A>T (p.Ser224Cys) c.934A>T (p.Ser312Cys) c.904A>T (p.Ser302Cys) | |
| 11 | g.72229949G>A | CA6169822 | INPPL1 | c.869G>A (p.Ser290Asn) c.143G>A (p.Ser48Asn) c.53G>A (p.Ser18Asn) c.671G>A (p.Ser224Asn) c.935G>A (p.Ser312Asn) c.905G>A (p.Ser302Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229949G>C | CA381722847 | INPPL1 | c.869G>C (p.Ser290Thr) c.143G>C (p.Ser48Thr) c.53G>C (p.Ser18Thr) c.671G>C (p.Ser224Thr) c.935G>C (p.Ser312Thr) c.905G>C (p.Ser302Thr) | |
| 11 | g.72229949G= | CA1981897844 | INPPL1 | c.869G= (p.Ser290=) c.143G= (p.Ser48=) c.53G= (p.Ser18=) c.671G= (p.Ser224=) c.935G= (p.Ser312=) c.905G= (p.Ser302=) | |
| 11 | g.72229949G>T | CA381722852 | INPPL1 | c.869G>T (p.Ser290Ile) c.143G>T (p.Ser48Ile) c.53G>T (p.Ser18Ile) c.671G>T (p.Ser224Ile) c.935G>T (p.Ser312Ile) c.905G>T (p.Ser302Ile) | |
| 11 | g.72229950C>A | CA381722855 | INPPL1 | c.870C>A (p.Ser290Arg) c.144C>A (p.Ser48Arg) c.54C>A (p.Ser18Arg) c.672C>A (p.Ser224Arg) c.936C>A (p.Ser312Arg) c.906C>A (p.Ser302Arg) | |
| 11 | g.72229950C= | CA1981897845 | INPPL1 | c.870C= (p.Ser290=) c.144C= (p.Ser48=) c.54C= (p.Ser18=) c.672C= (p.Ser224=) c.936C= (p.Ser312=) c.906C= (p.Ser302=) | |
| 11 | g.72229950C>G | CA381722858 | INPPL1 | c.870C>G (p.Ser290Arg) c.144C>G (p.Ser48Arg) c.54C>G (p.Ser18Arg) c.672C>G (p.Ser224Arg) c.936C>G (p.Ser312Arg) c.906C>G (p.Ser302Arg) | gnomAD v4 |
| 11 | g.72229950C>T | CA6169823 | INPPL1 | c.870C>T (p.Ser290=) c.144C>T (p.Ser48=) c.54C>T (p.Ser18=) c.672C>T (p.Ser224=) c.936C>T (p.Ser312=) c.906C>T (p.Ser302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229951T>A | CA381722870 | INPPL1 | c.871T>A (p.Ser291Thr) c.145T>A (p.Ser49Thr) c.55T>A (p.Ser19Thr) c.673T>A (p.Ser225Thr) c.937T>A (p.Ser313Thr) c.907T>A (p.Ser303Thr) | |
| 11 | g.72229951T>C | CA381722873 | INPPL1 | c.871T>C (p.Ser291Pro) c.145T>C (p.Ser49Pro) c.55T>C (p.Ser19Pro) c.673T>C (p.Ser225Pro) c.937T>C (p.Ser313Pro) c.907T>C (p.Ser303Pro) | gnomAD v4 |
| 11 | g.72229951T>G | CA381722872 | INPPL1 | c.871T>G (p.Ser291Ala) c.145T>G (p.Ser49Ala) c.55T>G (p.Ser19Ala) c.673T>G (p.Ser225Ala) c.937T>G (p.Ser313Ala) c.907T>G (p.Ser303Ala) | |
| 11 | g.72229951_72229959dup | CA2614932012 | INPPL1 | c.871_879dup (p.Ala293_Pro294insSerThrAla) c.145_153dup (p.Ala51_Pro52insSerThrAla) c.55_63dup (p.Ala21_Pro22insSerThrAla) c.673_681dup (p.Ala227_Pro228insSerThrAla) c.937_945dup (p.Ala315_Pro316insSerThrAla) c.907_915dup (p.Ala305_Pro306insSerThrAla) | gnomAD v4 |
| 11 | g.72229952C>A | CA381722875 | INPPL1 | c.872C>A (p.Ser291Tyr) c.146C>A (p.Ser49Tyr) c.56C>A (p.Ser19Tyr) c.674C>A (p.Ser225Tyr) c.938C>A (p.Ser313Tyr) c.908C>A (p.Ser303Tyr) | |
| 11 | g.72229952C= | CA1981897846 | INPPL1 | c.872C= (p.Ser291=) c.146C= (p.Ser49=) c.56C= (p.Ser19=) c.674C= (p.Ser225=) c.938C= (p.Ser313=) c.908C= (p.Ser303=) | |
| 11 | g.72229952C>G | CA381722883 | INPPL1 | c.872C>G (p.Ser291Cys) c.146C>G (p.Ser49Cys) c.56C>G (p.Ser19Cys) c.674C>G (p.Ser225Cys) c.938C>G (p.Ser313Cys) c.908C>G (p.Ser303Cys) | COSMIC |
| 11 | g.72229952C>T | CA381722879 | INPPL1 | c.872C>T (p.Ser291Phe) c.146C>T (p.Ser49Phe) c.56C>T (p.Ser19Phe) c.674C>T (p.Ser225Phe) c.938C>T (p.Ser313Phe) c.908C>T (p.Ser303Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229953C>A | CA475592215 | INPPL1 | c.873C>A (p.Ser291=) c.147C>A (p.Ser49=) c.57C>A (p.Ser19=) c.675C>A (p.Ser225=) c.939C>A (p.Ser313=) c.909C>A (p.Ser303=) | |
| 11 | g.72229953C>G | CA475592217 | INPPL1 | c.873C>G (p.Ser291=) c.147C>G (p.Ser49=) c.57C>G (p.Ser19=) c.675C>G (p.Ser225=) c.939C>G (p.Ser313=) c.909C>G (p.Ser303=) | |
| 11 | g.72229953C>T | CA475592218 | INPPL1 | c.873C>T (p.Ser291=) c.147C>T (p.Ser49=) c.57C>T (p.Ser19=) c.675C>T (p.Ser225=) c.939C>T (p.Ser313=) c.909C>T (p.Ser303=) | COSMIC |
| 11 | g.72229954A>C | CA381722884 | INPPL1 | c.874A>C (p.Thr292Pro) c.148A>C (p.Thr50Pro) c.58A>C (p.Thr20Pro) c.676A>C (p.Thr226Pro) c.940A>C (p.Thr314Pro) c.910A>C (p.Thr304Pro) | gnomAD v4 |
| 11 | g.72229954A>G | CA381722899 | INPPL1 | c.874A>G (p.Thr292Ala) c.148A>G (p.Thr50Ala) c.58A>G (p.Thr20Ala) c.676A>G (p.Thr226Ala) c.940A>G (p.Thr314Ala) c.910A>G (p.Thr304Ala) | |
| 11 | g.72229954A>T | CA381722892 | INPPL1 | c.874A>T (p.Thr292Ser) c.148A>T (p.Thr50Ser) c.58A>T (p.Thr20Ser) c.676A>T (p.Thr226Ser) c.940A>T (p.Thr314Ser) c.910A>T (p.Thr304Ser) | |
| 11 | g.72229955C>A | CA381722903 | INPPL1 | c.875C>A (p.Thr292Lys) c.149C>A (p.Thr50Lys) c.59C>A (p.Thr20Lys) c.677C>A (p.Thr226Lys) c.941C>A (p.Thr314Lys) c.911C>A (p.Thr304Lys) | |
| 11 | g.72229955C>G | CA381722905 | INPPL1 | c.875C>G (p.Thr292Arg) c.149C>G (p.Thr50Arg) c.59C>G (p.Thr20Arg) c.677C>G (p.Thr226Arg) c.941C>G (p.Thr314Arg) c.911C>G (p.Thr304Arg) | |
| 11 | g.72229955C>T | CA381722912 | INPPL1 | c.875C>T (p.Thr292Ile) c.149C>T (p.Thr50Ile) c.59C>T (p.Thr20Ile) c.677C>T (p.Thr226Ile) c.941C>T (p.Thr314Ile) c.911C>T (p.Thr304Ile) | |
| 11 | g.72229956A= | CA1981897847 | INPPL1 | c.876A= (p.Thr292=) c.150A= (p.Thr50=) c.60A= (p.Thr20=) c.678A= (p.Thr226=) c.942A= (p.Thr314=) c.912A= (p.Thr304=) | |
| 11 | g.72229956A>C | CA475592225 | INPPL1 | c.876A>C (p.Thr292=) c.150A>C (p.Thr50=) c.60A>C (p.Thr20=) c.678A>C (p.Thr226=) c.942A>C (p.Thr314=) c.912A>C (p.Thr304=) | |
| 11 | g.72229956A>G | CA6169824 | INPPL1 | c.876A>G (p.Thr292=) c.150A>G (p.Thr50=) c.60A>G (p.Thr20=) c.678A>G (p.Thr226=) c.942A>G (p.Thr314=) c.912A>G (p.Thr304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229956A>T | CA475592227 | INPPL1 | c.876A>T (p.Thr292=) c.150A>T (p.Thr50=) c.60A>T (p.Thr20=) c.678A>T (p.Thr226=) c.942A>T (p.Thr314=) c.912A>T (p.Thr304=) | |
| 11 | g.72229957G>A | CA381722914 | INPPL1 | c.877G>A (p.Ala293Thr) c.151G>A (p.Ala51Thr) c.61G>A (p.Ala21Thr) c.679G>A (p.Ala227Thr) c.943G>A (p.Ala315Thr) c.913G>A (p.Ala305Thr) | |
| 11 | g.72229957G>C | CA381722917 | INPPL1 | c.877G>C (p.Ala293Pro) c.151G>C (p.Ala51Pro) c.61G>C (p.Ala21Pro) c.679G>C (p.Ala227Pro) c.943G>C (p.Ala315Pro) c.913G>C (p.Ala305Pro) | |
| 11 | g.72229957G>T | CA381722930 | INPPL1 | c.877G>T (p.Ala293Ser) c.151G>T (p.Ala51Ser) c.61G>T (p.Ala21Ser) c.679G>T (p.Ala227Ser) c.943G>T (p.Ala315Ser) c.913G>T (p.Ala305Ser) | |
| 11 | g.72229958C>A | CA381722948 | INPPL1 | c.878C>A (p.Ala293Glu) c.152C>A (p.Ala51Glu) c.62C>A (p.Ala21Glu) c.680C>A (p.Ala227Glu) c.944C>A (p.Ala315Glu) c.914C>A (p.Ala305Glu) | |
| 11 | g.72229958C= | CA1981897848 | INPPL1 | c.878C= (p.Ala293=) c.152C= (p.Ala51=) c.62C= (p.Ala21=) c.680C= (p.Ala227=) c.944C= (p.Ala315=) c.914C= (p.Ala305=) | |
| 11 | g.72229958C>G | CA381722950 | INPPL1 | c.878C>G (p.Ala293Gly) c.152C>G (p.Ala51Gly) c.62C>G (p.Ala21Gly) c.680C>G (p.Ala227Gly) c.944C>G (p.Ala315Gly) c.914C>G (p.Ala305Gly) | |
| 11 | g.72229958C>T | CA381722953 | INPPL1 | c.878C>T (p.Ala293Val) c.152C>T (p.Ala51Val) c.62C>T (p.Ala21Val) c.680C>T (p.Ala227Val) c.944C>T (p.Ala315Val) c.914C>T (p.Ala305Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72229959A= | CA1981897849 | INPPL1 | c.879A= (p.Ala293=) c.153A= (p.Ala51=) c.63A= (p.Ala21=) c.681A= (p.Ala227=) c.945A= (p.Ala315=) c.915A= (p.Ala305=) | |
| 11 | g.72229959A>C | CA475592233 | INPPL1 | c.879A>C (p.Ala293=) c.153A>C (p.Ala51=) c.63A>C (p.Ala21=) c.681A>C (p.Ala227=) c.945A>C (p.Ala315=) c.915A>C (p.Ala305=) | dbSNP |
| 11 | g.72229959A>G | CA224375782 | INPPL1 | c.879A>G (p.Ala293=) c.153A>G (p.Ala51=) c.63A>G (p.Ala21=) c.681A>G (p.Ala227=) c.945A>G (p.Ala315=) c.915A>G (p.Ala305=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.72229959A>T | CA475592236 | INPPL1 | c.879A>T (p.Ala293=) c.153A>T (p.Ala51=) c.63A>T (p.Ala21=) c.681A>T (p.Ala227=) c.945A>T (p.Ala315=) c.915A>T (p.Ala305=) | |
| 11 | g.72229960C>A | CA381722960 | INPPL1 | c.880C>A (p.Pro294Thr) c.154C>A (p.Pro52Thr) c.64C>A (p.Pro22Thr) c.682C>A (p.Pro228Thr) c.946C>A (p.Pro316Thr) c.916C>A (p.Pro306Thr) | gnomAD v4 |
| 11 | g.72229960C>G | CA381722964 | INPPL1 | c.880C>G (p.Pro294Ala) c.154C>G (p.Pro52Ala) c.64C>G (p.Pro22Ala) c.682C>G (p.Pro228Ala) c.946C>G (p.Pro316Ala) c.916C>G (p.Pro306Ala) | |
| 11 | g.72229960C>T | CA381722962 | INPPL1 | c.880C>T (p.Pro294Ser) c.154C>T (p.Pro52Ser) c.64C>T (p.Pro22Ser) c.682C>T (p.Pro228Ser) c.946C>T (p.Pro316Ser) c.916C>T (p.Pro306Ser) | |
| 11 | g.72229964del | CA2724482362 | INPPL1 | c.884del (p.Pro295GlnfsTer20) c.158del (p.Pro53GlnfsTer20) c.68del (p.Pro23GlnfsTer20) c.686del (p.Pro229GlnfsTer20) c.950del (p.Pro317GlnfsTer20) c.920del (p.Pro307GlnfsTer20) | dbSNP |
| 11 | g.72229961C>A | CA381722966 | INPPL1 | c.881C>A (p.Pro294His) c.155C>A (p.Pro52His) c.65C>A (p.Pro22His) c.683C>A (p.Pro228His) c.947C>A (p.Pro316His) c.917C>A (p.Pro306His) | |
| 11 | g.72229961C>G | CA381722968 | INPPL1 | c.881C>G (p.Pro294Arg) c.155C>G (p.Pro52Arg) c.65C>G (p.Pro22Arg) c.683C>G (p.Pro228Arg) c.947C>G (p.Pro316Arg) c.917C>G (p.Pro306Arg) | gnomAD v4 |
| 11 | g.72229961C>T | CA381722972 | INPPL1 | c.881C>T (p.Pro294Leu) c.155C>T (p.Pro52Leu) c.65C>T (p.Pro22Leu) c.683C>T (p.Pro228Leu) c.947C>T (p.Pro316Leu) c.917C>T (p.Pro306Leu) | |
| 11 | g.72229962C>A | CA475592242 | INPPL1 | c.882C>A (p.Pro294=) c.156C>A (p.Pro52=) c.66C>A (p.Pro22=) c.684C>A (p.Pro228=) c.948C>A (p.Pro316=) c.918C>A (p.Pro306=) | gnomAD v4 |
| 11 | g.72229962C>G | CA475592244 | INPPL1 | c.882C>G (p.Pro294=) c.156C>G (p.Pro52=) c.66C>G (p.Pro22=) c.684C>G (p.Pro228=) c.948C>G (p.Pro316=) c.918C>G (p.Pro306=) | |
| 11 | g.72229962C>T | CA475592246 | INPPL1 | c.882C>T (p.Pro294=) c.156C>T (p.Pro52=) c.66C>T (p.Pro22=) c.684C>T (p.Pro228=) c.948C>T (p.Pro316=) c.918C>T (p.Pro306=) | gnomAD v4 |
| 11 | g.72229963C>A | CA381722974 | INPPL1 | c.883C>A (p.Pro295Thr) c.157C>A (p.Pro53Thr) c.67C>A (p.Pro23Thr) c.685C>A (p.Pro229Thr) c.949C>A (p.Pro317Thr) c.919C>A (p.Pro307Thr) | |
| 11 | g.72229963C= | CA1981897850 | INPPL1 | c.883C= (p.Pro295=) c.157C= (p.Pro53=) c.67C= (p.Pro23=) c.685C= (p.Pro229=) c.949C= (p.Pro317=) c.919C= (p.Pro307=) | |
| 11 | g.72229963C>G | CA381722981 | INPPL1 | c.883C>G (p.Pro295Ala) c.157C>G (p.Pro53Ala) c.67C>G (p.Pro23Ala) c.685C>G (p.Pro229Ala) c.949C>G (p.Pro317Ala) c.919C>G (p.Pro307Ala) | |
| 11 | g.72229963C>T | CA381722985 | INPPL1 | c.883C>T (p.Pro295Ser) c.157C>T (p.Pro53Ser) c.67C>T (p.Pro23Ser) c.685C>T (p.Pro229Ser) c.949C>T (p.Pro317Ser) c.919C>T (p.Pro307Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72229964C>A | CA381722993 | INPPL1 | c.884C>A (p.Pro295Gln) c.158C>A (p.Pro53Gln) c.68C>A (p.Pro23Gln) c.686C>A (p.Pro229Gln) c.950C>A (p.Pro317Gln) c.920C>A (p.Pro307Gln) | |
| 11 | g.72229964C>G | CA381722995 | INPPL1 | c.884C>G (p.Pro295Arg) c.158C>G (p.Pro53Arg) c.68C>G (p.Pro23Arg) c.686C>G (p.Pro229Arg) c.950C>G (p.Pro317Arg) c.920C>G (p.Pro307Arg) | |
| 11 | g.72229964C>T | CA381722996 | INPPL1 | c.884C>T (p.Pro295Leu) c.158C>T (p.Pro53Leu) c.68C>T (p.Pro23Leu) c.686C>T (p.Pro229Leu) c.950C>T (p.Pro317Leu) c.920C>T (p.Pro307Leu) | |
| 11 | g.72229965A>C | CA475592253 | INPPL1 | c.885A>C (p.Pro295=) c.159A>C (p.Pro53=) c.69A>C (p.Pro23=) c.687A>C (p.Pro229=) c.951A>C (p.Pro317=) c.921A>C (p.Pro307=) | |
| 11 | g.72229965A>G | CA475592255 | INPPL1 | c.885A>G (p.Pro295=) c.159A>G (p.Pro53=) c.69A>G (p.Pro23=) c.687A>G (p.Pro229=) c.951A>G (p.Pro317=) c.921A>G (p.Pro307=) | |
| 11 | g.72229965A>T | CA475592252 | INPPL1 | c.885A>T (p.Pro295=) c.159A>T (p.Pro53=) c.69A>T (p.Pro23=) c.687A>T (p.Pro229=) c.951A>T (p.Pro317=) c.921A>T (p.Pro307=) | |
| 11 | g.72229966G>A | CA381722998 | INPPL1 | c.886G>A (p.Ala296Thr) c.160G>A (p.Ala54Thr) c.70G>A (p.Ala24Thr) c.688G>A (p.Ala230Thr) c.952G>A (p.Ala318Thr) c.922G>A (p.Ala308Thr) | |
| 11 | g.72229966G>C | CA381722999 | INPPL1 | c.886G>C (p.Ala296Pro) c.160G>C (p.Ala54Pro) c.70G>C (p.Ala24Pro) c.688G>C (p.Ala230Pro) c.952G>C (p.Ala318Pro) c.922G>C (p.Ala308Pro) | |
| 11 | g.72229966G>T | CA381722997 | INPPL1 | c.886G>T (p.Ala296Ser) c.160G>T (p.Ala54Ser) c.70G>T (p.Ala24Ser) c.688G>T (p.Ala230Ser) c.952G>T (p.Ala318Ser) c.922G>T (p.Ala308Ser) | |
| 11 | g.72229967C>A | CA381723000 | INPPL1 | c.887C>A (p.Ala296Asp) c.161C>A (p.Ala54Asp) c.71C>A (p.Ala24Asp) c.689C>A (p.Ala230Asp) c.953C>A (p.Ala318Asp) c.923C>A (p.Ala308Asp) | |
| 11 | g.72229967C= | CA1981897851 | INPPL1 | c.887C= (p.Ala296=) c.161C= (p.Ala54=) c.71C= (p.Ala24=) c.689C= (p.Ala230=) c.953C= (p.Ala318=) c.923C= (p.Ala308=) | |
| 11 | g.72229967C>G | CA381723001 | INPPL1 | c.887C>G (p.Ala296Gly) c.161C>G (p.Ala54Gly) c.71C>G (p.Ala24Gly) c.689C>G (p.Ala230Gly) c.953C>G (p.Ala318Gly) c.923C>G (p.Ala308Gly) | dbSNP |
| 11 | g.72229967C>T | CA381723004 | INPPL1 | c.887C>T (p.Ala296Val) c.161C>T (p.Ala54Val) c.71C>T (p.Ala24Val) c.689C>T (p.Ala230Val) c.953C>T (p.Ala318Val) c.923C>T (p.Ala308Val) | |
| 11 | g.72229967_72229968delinsCT | CA1981897852 | INPPL1 | c.887_888delinsCT (p.Ala296=) c.161_162delinsCT (p.Ala54=) c.71_72delinsCT (p.Ala24=) c.689_690delinsCT (p.Ala230=) c.953_954delinsCT (p.Ala318=) c.923_924delinsCT (p.Ala308=) | |
| 11 | g.72229968del | CA939440480 | INPPL1 | c.888del (p.Pro297ArgfsTer18) c.162del (p.Pro55ArgfsTer18) c.72del (p.Pro25ArgfsTer18) c.690del (p.Pro231ArgfsTer18) c.954del (p.Pro319ArgfsTer18) c.924del (p.Pro309ArgfsTer18) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72229968T>A | CA475592264 | INPPL1 | c.888T>A (p.Ala296=) c.162T>A (p.Ala54=) c.72T>A (p.Ala24=) c.690T>A (p.Ala230=) c.954T>A (p.Ala318=) c.924T>A (p.Ala308=) | |
| 11 | g.72229968T>C | CA475592261 | INPPL1 | c.888T>C (p.Ala296=) c.162T>C (p.Ala54=) c.72T>C (p.Ala24=) c.690T>C (p.Ala230=) c.954T>C (p.Ala318=) c.924T>C (p.Ala308=) | |
| 11 | g.72229968T>G | CA475592263 | INPPL1 | c.888T>G (p.Ala296=) c.162T>G (p.Ala54=) c.72T>G (p.Ala24=) c.690T>G (p.Ala230=) c.954T>G (p.Ala318=) c.924T>G (p.Ala308=) | |
| 11 | g.72229969C>A | CA381723010 | INPPL1 | c.889C>A (p.Pro297Thr) c.163C>A (p.Pro55Thr) c.73C>A (p.Pro25Thr) c.691C>A (p.Pro231Thr) c.955C>A (p.Pro319Thr) c.925C>A (p.Pro309Thr) | |
| 11 | g.72229969C>G | CA381723024 | INPPL1 | c.889C>G (p.Pro297Ala) c.163C>G (p.Pro55Ala) c.73C>G (p.Pro25Ala) c.691C>G (p.Pro231Ala) c.955C>G (p.Pro319Ala) c.925C>G (p.Pro309Ala) | |
| 11 | g.72229969C>T | CA381723027 | INPPL1 | c.889C>T (p.Pro297Ser) c.163C>T (p.Pro55Ser) c.73C>T (p.Pro25Ser) c.691C>T (p.Pro231Ser) c.955C>T (p.Pro319Ser) c.925C>T (p.Pro309Ser) | |
| 11 | g.72229970C>A | CA381723040 | INPPL1 | c.890C>A (p.Pro297Gln) c.164C>A (p.Pro55Gln) c.74C>A (p.Pro25Gln) c.692C>A (p.Pro231Gln) c.956C>A (p.Pro319Gln) c.926C>A (p.Pro309Gln) | |
| 11 | g.72229970C= | CA1981897853 | INPPL1 | c.890C= (p.Pro297=) c.164C= (p.Pro55=) c.74C= (p.Pro25=) c.692C= (p.Pro231=) c.956C= (p.Pro319=) c.926C= (p.Pro309=) | |
| 11 | g.72229970C>G | CA381723047 | INPPL1 | c.890C>G (p.Pro297Arg) c.164C>G (p.Pro55Arg) c.74C>G (p.Pro25Arg) c.692C>G (p.Pro231Arg) c.956C>G (p.Pro319Arg) c.926C>G (p.Pro309Arg) | |
| 11 | g.72229970C>T | CA6169825 | INPPL1 | c.890C>T (p.Pro297Leu) c.164C>T (p.Pro55Leu) c.74C>T (p.Pro25Leu) c.692C>T (p.Pro231Leu) c.956C>T (p.Pro319Leu) c.926C>T (p.Pro309Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229971G>A | CA6169826 | INPPL1 | c.891G>A (p.Pro297=) c.165G>A (p.Pro55=) c.75G>A (p.Pro25=) c.693G>A (p.Pro231=) c.957G>A (p.Pro319=) c.927G>A (p.Pro309=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229971G>C | CA475592274 | INPPL1 | c.891G>C (p.Pro297=) c.165G>C (p.Pro55=) c.75G>C (p.Pro25=) c.693G>C (p.Pro231=) c.957G>C (p.Pro319=) c.927G>C (p.Pro309=) | |
| 11 | g.72229971G= | CA1981897854 | INPPL1 | c.891G= (p.Pro297=) c.165G= (p.Pro55=) c.75G= (p.Pro25=) c.693G= (p.Pro231=) c.957G= (p.Pro319=) c.927G= (p.Pro309=) | |
| 11 | g.72229971G>T | CA475592273 | INPPL1 | c.891G>T (p.Pro297=) c.165G>T (p.Pro55=) c.75G>T (p.Pro25=) c.693G>T (p.Pro231=) c.957G>T (p.Pro319=) c.927G>T (p.Pro309=) | |
| 11 | g.72229972C>A | CA381723058 | INPPL1 | c.892C>A (p.Gln298Lys) c.166C>A (p.Gln56Lys) c.76C>A (p.Gln26Lys) c.694C>A (p.Gln232Lys) c.958C>A (p.Gln320Lys) c.928C>A (p.Gln310Lys) | |
| 11 | g.72229972C>G | CA381723065 | INPPL1 | c.892C>G (p.Gln298Glu) c.166C>G (p.Gln56Glu) c.76C>G (p.Gln26Glu) c.694C>G (p.Gln232Glu) c.958C>G (p.Gln320Glu) c.928C>G (p.Gln310Glu) | |
| 11 | g.72229972C>T | CA381723069 | INPPL1 | c.892C>T (p.Gln298Ter) c.166C>T (p.Gln56Ter) c.76C>T (p.Gln26Ter) c.694C>T (p.Gln232Ter) c.958C>T (p.Gln320Ter) c.928C>T (p.Gln310Ter) | |
| 11 | g.72229973A= | CA1981897855 | INPPL1 | c.893A= (p.Gln298=) c.167A= (p.Gln56=) c.77A= (p.Gln26=) c.695A= (p.Gln232=) c.959A= (p.Gln320=) c.929A= (p.Gln310=) | |
| 11 | g.72229973A>C | CA381723072 | INPPL1 | c.893A>C (p.Gln298Pro) c.167A>C (p.Gln56Pro) c.77A>C (p.Gln26Pro) c.695A>C (p.Gln232Pro) c.959A>C (p.Gln320Pro) c.929A>C (p.Gln310Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72229973A>G | CA381723085 | INPPL1 | c.893A>G (p.Gln298Arg) c.167A>G (p.Gln56Arg) c.77A>G (p.Gln26Arg) c.695A>G (p.Gln232Arg) c.959A>G (p.Gln320Arg) c.929A>G (p.Gln310Arg) | |
| 11 | g.72229973A>T | CA381723081 | INPPL1 | c.893A>T (p.Gln298Leu) c.167A>T (p.Gln56Leu) c.77A>T (p.Gln26Leu) c.695A>T (p.Gln232Leu) c.959A>T (p.Gln320Leu) c.929A>T (p.Gln310Leu) | |
| 11 | g.72229974G>A | CA475592281 | INPPL1 | c.894G>A (p.Gln298=) c.168G>A (p.Gln56=) c.78G>A (p.Gln26=) c.696G>A (p.Gln232=) c.960G>A (p.Gln320=) c.930G>A (p.Gln310=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72229974G>C | CA381723086 | INPPL1 | c.894G>C (p.Gln298His) c.168G>C (p.Gln56His) c.78G>C (p.Gln26His) c.696G>C (p.Gln232His) c.960G>C (p.Gln320His) c.930G>C (p.Gln310His) | |
| 11 | g.72229974G= | CA1981897856 | INPPL1 | c.894G= (p.Gln298=) c.168G= (p.Gln56=) c.78G= (p.Gln26=) c.696G= (p.Gln232=) c.960G= (p.Gln320=) c.930G= (p.Gln310=) | |
| 11 | g.72229974G>T | CA381723087 | INPPL1 | c.894G>T (p.Gln298His) c.168G>T (p.Gln56His) c.78G>T (p.Gln26His) c.696G>T (p.Gln232His) c.960G>T (p.Gln320His) c.930G>T (p.Gln310His) | |
| 11 | g.72229975C>A | CA381723089 | INPPL1 | c.895C>A (p.Pro299Thr) c.169C>A (p.Pro57Thr) c.79C>A (p.Pro27Thr) c.697C>A (p.Pro233Thr) c.961C>A (p.Pro321Thr) c.931C>A (p.Pro311Thr) | |
| 11 | g.72229975C= | CA1981897857 | INPPL1 | c.895C= (p.Pro299=) c.169C= (p.Pro57=) c.79C= (p.Pro27=) c.697C= (p.Pro233=) c.961C= (p.Pro321=) c.931C= (p.Pro311=) | |
| 11 | g.72229975C>G | CA381723093 | INPPL1 | c.895C>G (p.Pro299Ala) c.169C>G (p.Pro57Ala) c.79C>G (p.Pro27Ala) c.697C>G (p.Pro233Ala) c.961C>G (p.Pro321Ala) c.931C>G (p.Pro311Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72229975C>T | CA381723095 | INPPL1 | c.895C>T (p.Pro299Ser) c.169C>T (p.Pro57Ser) c.79C>T (p.Pro27Ser) c.697C>T (p.Pro233Ser) c.961C>T (p.Pro321Ser) c.931C>T (p.Pro311Ser) | |
| 11 | g.72229976C>A | CA381723099 | INPPL1 | c.896C>A (p.Pro299Gln) c.170C>A (p.Pro57Gln) c.80C>A (p.Pro27Gln) c.698C>A (p.Pro233Gln) c.962C>A (p.Pro321Gln) c.932C>A (p.Pro311Gln) | |
| 11 | g.72229976C>G | CA381723102 | INPPL1 | c.896C>G (p.Pro299Arg) c.170C>G (p.Pro57Arg) c.80C>G (p.Pro27Arg) c.698C>G (p.Pro233Arg) c.962C>G (p.Pro321Arg) c.932C>G (p.Pro311Arg) | |
| 11 | g.72229976C>T | CA381723106 | INPPL1 | c.896C>T (p.Pro299Leu) c.170C>T (p.Pro57Leu) c.80C>T (p.Pro27Leu) c.698C>T (p.Pro233Leu) c.962C>T (p.Pro321Leu) c.932C>T (p.Pro311Leu) | gnomAD v4 |
| 11 | g.72229977A= | CA1981897858 | INPPL1 | c.897A= (p.Pro299=) c.171A= (p.Pro57=) c.81A= (p.Pro27=) c.699A= (p.Pro233=) c.963A= (p.Pro321=) c.933A= (p.Pro311=) | |
| 11 | g.72229977A>C | CA475592286 | INPPL1 | c.897A>C (p.Pro299=) c.171A>C (p.Pro57=) c.81A>C (p.Pro27=) c.699A>C (p.Pro233=) c.963A>C (p.Pro321=) c.933A>C (p.Pro311=) | |
| 11 | g.72229977A>G | CA475592287 | INPPL1 | c.897A>G (p.Pro299=) c.171A>G (p.Pro57=) c.81A>G (p.Pro27=) c.699A>G (p.Pro233=) c.963A>G (p.Pro321=) c.933A>G (p.Pro311=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72229977A>T | CA475592288 | INPPL1 | c.897A>T (p.Pro299=) c.171A>T (p.Pro57=) c.81A>T (p.Pro27=) c.699A>T (p.Pro233=) c.963A>T (p.Pro321=) c.933A>T (p.Pro311=) | |
| 11 | g.72229978T>A | CA381723111 | INPPL1 | c.898T>A (p.Ser300Thr) c.172T>A (p.Ser58Thr) c.82T>A (p.Ser28Thr) c.700T>A (p.Ser234Thr) c.964T>A (p.Ser322Thr) c.934T>A (p.Ser312Thr) | |
| 11 | g.72229978T>C | CA381723113 | INPPL1 | c.898T>C (p.Ser300Pro) c.172T>C (p.Ser58Pro) c.82T>C (p.Ser28Pro) c.700T>C (p.Ser234Pro) c.964T>C (p.Ser322Pro) c.934T>C (p.Ser312Pro) | gnomAD v4 |
| 11 | g.72229978T>G | CA381723114 | INPPL1 | c.898T>G (p.Ser300Ala) c.172T>G (p.Ser58Ala) c.82T>G (p.Ser28Ala) c.700T>G (p.Ser234Ala) c.964T>G (p.Ser322Ala) c.934T>G (p.Ser312Ala) | |
| 11 | g.72229979C>A | CA381723123 | INPPL1 | c.899C>A (p.Ser300Tyr) c.173C>A (p.Ser58Tyr) c.83C>A (p.Ser28Tyr) c.701C>A (p.Ser234Tyr) c.965C>A (p.Ser322Tyr) c.935C>A (p.Ser312Tyr) | |
| 11 | g.72229979C= | CA1981897859 | INPPL1 | c.899C= (p.Ser300=) c.173C= (p.Ser58=) c.83C= (p.Ser28=) c.701C= (p.Ser234=) c.965C= (p.Ser322=) c.935C= (p.Ser312=) | |
| 11 | g.72229979C>G | CA381723119 | INPPL1 | c.899C>G (p.Ser300Cys) c.173C>G (p.Ser58Cys) c.83C>G (p.Ser28Cys) c.701C>G (p.Ser234Cys) c.965C>G (p.Ser322Cys) c.935C>G (p.Ser312Cys) | |
| 11 | g.72229979C>T | CA381723118 | INPPL1 | c.899C>T (p.Ser300Phe) c.173C>T (p.Ser58Phe) c.83C>T (p.Ser28Phe) c.701C>T (p.Ser234Phe) c.965C>T (p.Ser322Phe) c.935C>T (p.Ser312Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72229980C>A | CA475592295 | INPPL1 | c.900C>A (p.Ser300=) c.174C>A (p.Ser58=) c.84C>A (p.Ser28=) c.702C>A (p.Ser234=) c.966C>A (p.Ser322=) c.936C>A (p.Ser312=) | |
| 11 | g.72229980C= | CA1981897860 | INPPL1 | c.900C= (p.Ser300=) c.174C= (p.Ser58=) c.84C= (p.Ser28=) c.702C= (p.Ser234=) c.966C= (p.Ser322=) c.936C= (p.Ser312=) | |
| 11 | g.72229980C>G | CA475592296 | INPPL1 | c.900C>G (p.Ser300=) c.174C>G (p.Ser58=) c.84C>G (p.Ser28=) c.702C>G (p.Ser234=) c.966C>G (p.Ser322=) c.936C>G (p.Ser312=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72229980C>T | CA475592298 | INPPL1 | c.900C>T (p.Ser300=) c.174C>T (p.Ser58=) c.84C>T (p.Ser28=) c.702C>T (p.Ser234=) c.966C>T (p.Ser322=) c.936C>T (p.Ser312=) | |
| 11 | g.72229981A>C | CA381723125 | INPPL1 | c.901A>C (p.Thr301Pro) c.175A>C (p.Thr59Pro) c.85A>C (p.Thr29Pro) c.703A>C (p.Thr235Pro) c.967A>C (p.Thr323Pro) c.937A>C (p.Thr313Pro) | |
| 11 | g.72229981A>G | CA381723127 | INPPL1 | c.901A>G (p.Thr301Ala) c.175A>G (p.Thr59Ala) c.85A>G (p.Thr29Ala) c.703A>G (p.Thr235Ala) c.967A>G (p.Thr323Ala) c.937A>G (p.Thr313Ala) | gnomAD v4 |
| 11 | g.72229981A>T | CA381723128 | INPPL1 | c.901A>T (p.Thr301Ser) c.175A>T (p.Thr59Ser) c.85A>T (p.Thr29Ser) c.703A>T (p.Thr235Ser) c.967A>T (p.Thr323Ser) c.937A>T (p.Thr313Ser) | |
| 11 | g.72229982C>A | CA381723137 | INPPL1 | c.902C>A (p.Thr301Lys) c.176C>A (p.Thr59Lys) c.86C>A (p.Thr29Lys) c.704C>A (p.Thr235Lys) c.968C>A (p.Thr323Lys) c.938C>A (p.Thr313Lys) | |
| 11 | g.72229982C>G | CA381723138 | INPPL1 | c.902C>G (p.Thr301Arg) c.176C>G (p.Thr59Arg) c.86C>G (p.Thr29Arg) c.704C>G (p.Thr235Arg) c.968C>G (p.Thr323Arg) c.938C>G (p.Thr313Arg) | |
| 11 | g.72229982C>T | CA381723139 | INPPL1 | c.902C>T (p.Thr301Ile) c.176C>T (p.Thr59Ile) c.86C>T (p.Thr29Ile) c.704C>T (p.Thr235Ile) c.968C>T (p.Thr323Ile) c.938C>T (p.Thr313Ile) | |
| 11 | g.72229983A>C | CA475592304 | INPPL1 | c.903A>C (p.Thr301=) c.177A>C (p.Thr59=) c.87A>C (p.Thr29=) c.705A>C (p.Thr235=) c.969A>C (p.Thr323=) c.939A>C (p.Thr313=) | |
| 11 | g.72229983A>G | CA475592305 | INPPL1 | c.903A>G (p.Thr301=) c.177A>G (p.Thr59=) c.87A>G (p.Thr29=) c.705A>G (p.Thr235=) c.969A>G (p.Thr323=) c.939A>G (p.Thr313=) | |
| 11 | g.72229983A>T | CA475592306 | INPPL1 | c.903A>T (p.Thr301=) c.177A>T (p.Thr59=) c.87A>T (p.Thr29=) c.705A>T (p.Thr235=) c.969A>T (p.Thr323=) c.939A>T (p.Thr313=) | |
| 11 | g.72229983_72229984insTGATGAGCGCCGCGGCTGTCAAGTGCGGCCTGGCTTCCGACGAGAACGCCGACGATCTCAAGGACCTCGACGAAGCACG | CA2792650686 | INPPL1 | c.903_904insTGATGAGCGCCGCGGCTGTCAAGTGCGGCCTGGCTTCCGACGAGAACGCCGACGATCTCAAGGACCTCGACGAAGCACG (p.Arg302Ter) c.177_178insTGATGAGCGCCGCGGCTGTCAAGTGCGGCCTGGCTTCCGACGAGAACGCCGACGATCTCAAGGACCTCGACGAAGCACG (p.Arg60Ter) c.87_88insTGATGAGCGCCGCGGCTGTCAAGTGCGGCCTGGCTTCCGACGAGAACGCCGACGATCTCAAGGACCTCGACGAAGCACG (p.Arg30Ter) c.705_706insTGATGAGCGCCGCGGCTGTCAAGTGCGGCCTGGCTTCCGACGAGAACGCCGACGATCTCAAGGACCTCGACGAAGCACG (p.Arg236Ter) c.969_970insTGATGAGCGCCGCGGCTGTCAAGTGCGGCCTGGCTTCCGACGAGAACGCCGACGATCTCAAGGACCTCGACGAAGCACG (p.Arg324Ter) c.939_940insTGATGAGCGCCGCGGCTGTCAAGTGCGGCCTGGCTTCCGACGAGAACGCCGACGATCTCAAGGACCTCGACGAAGCACG (p.Arg314Ter) | |
| 11 | g.72229984C>A | CA381723147 | INPPL1 | c.904C>A (p.Arg302Ser) c.178C>A (p.Arg60Ser) c.88C>A (p.Arg30Ser) c.706C>A (p.Arg236Ser) c.970C>A (p.Arg324Ser) c.940C>A (p.Arg314Ser) | dbSNP |
| 11 | g.72229984C= | CA1981897861 | INPPL1 | c.904C= (p.Arg302=) c.178C= (p.Arg60=) c.88C= (p.Arg30=) c.706C= (p.Arg236=) c.970C= (p.Arg324=) c.940C= (p.Arg314=) | |
| 11 | g.72229984C>G | CA381723142 | INPPL1 | c.904C>G (p.Arg302Gly) c.178C>G (p.Arg60Gly) c.88C>G (p.Arg30Gly) c.706C>G (p.Arg236Gly) c.970C>G (p.Arg324Gly) c.940C>G (p.Arg314Gly) | |
| 11 | g.72229984C>T | CA6169827 | INPPL1 | c.904C>T (p.Arg302Cys) c.178C>T (p.Arg60Cys) c.88C>T (p.Arg30Cys) c.706C>T (p.Arg236Cys) c.970C>T (p.Arg324Cys) c.940C>T (p.Arg314Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229985G>A | CA6169828 | INPPL1 | c.905G>A (p.Arg302His) c.179G>A (p.Arg60His) c.89G>A (p.Arg30His) c.707G>A (p.Arg236His) c.971G>A (p.Arg324His) c.941G>A (p.Arg314His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229985G>C | CA381723149 | INPPL1 | c.905G>C (p.Arg302Pro) c.179G>C (p.Arg60Pro) c.89G>C (p.Arg30Pro) c.707G>C (p.Arg236Pro) c.971G>C (p.Arg324Pro) c.941G>C (p.Arg314Pro) | |
| 11 | g.72229985G= | CA1981897862 | INPPL1 | c.905G= (p.Arg302=) c.179G= (p.Arg60=) c.89G= (p.Arg30=) c.707G= (p.Arg236=) c.971G= (p.Arg324=) c.941G= (p.Arg314=) | |
| 11 | g.72229985G>T | CA381723150 | INPPL1 | c.905G>T (p.Arg302Leu) c.179G>T (p.Arg60Leu) c.89G>T (p.Arg30Leu) c.707G>T (p.Arg236Leu) c.971G>T (p.Arg324Leu) c.941G>T (p.Arg314Leu) | |
| 11 | g.72229986T>A | CA475592317 | INPPL1 | c.906T>A (p.Arg302=) c.180T>A (p.Arg60=) c.90T>A (p.Arg30=) c.708T>A (p.Arg236=) c.972T>A (p.Arg324=) c.942T>A (p.Arg314=) | |
| 11 | g.72229986T>C | CA475592315 | INPPL1 | c.906T>C (p.Arg302=) c.180T>C (p.Arg60=) c.90T>C (p.Arg30=) c.708T>C (p.Arg236=) c.972T>C (p.Arg324=) c.942T>C (p.Arg314=) | |
| 11 | g.72229986T>G | CA475592313 | INPPL1 | c.906T>G (p.Arg302=) c.180T>G (p.Arg60=) c.90T>G (p.Arg30=) c.708T>G (p.Arg236=) c.972T>G (p.Arg324=) c.942T>G (p.Arg314=) | |
| 11 | g.72229987A>C | CA381723153 | INPPL1 | c.907A>C (p.Lys303Gln) c.181A>C (p.Lys61Gln) c.91A>C (p.Lys31Gln) c.709A>C (p.Lys237Gln) c.973A>C (p.Lys325Gln) c.943A>C (p.Lys315Gln) | |
| 11 | g.72229987A>G | CA381723161 | INPPL1 | c.907A>G (p.Lys303Glu) c.181A>G (p.Lys61Glu) c.91A>G (p.Lys31Glu) c.709A>G (p.Lys237Glu) c.973A>G (p.Lys325Glu) c.943A>G (p.Lys315Glu) | |
| 11 | g.72229987A>T | CA381723165 | INPPL1 | c.907A>T (p.Lys303Ter) c.181A>T (p.Lys61Ter) c.91A>T (p.Lys31Ter) c.709A>T (p.Lys237Ter) c.973A>T (p.Lys325Ter) c.943A>T (p.Lys315Ter) | |
| 11 | g.72229988A>C | CA381723175 | INPPL1 | c.908A>C (p.Lys303Thr) c.182A>C (p.Lys61Thr) c.92A>C (p.Lys31Thr) c.710A>C (p.Lys237Thr) c.974A>C (p.Lys325Thr) c.944A>C (p.Lys315Thr) | |
| 11 | g.72229988A>G | CA381723183 | INPPL1 | c.908A>G (p.Lys303Arg) c.182A>G (p.Lys61Arg) c.92A>G (p.Lys31Arg) c.710A>G (p.Lys237Arg) c.974A>G (p.Lys325Arg) c.944A>G (p.Lys315Arg) | |
| 11 | g.72229988A>T | CA381723180 | INPPL1 | c.908A>T (p.Lys303Met) c.182A>T (p.Lys61Met) c.92A>T (p.Lys31Met) c.710A>T (p.Lys237Met) c.974A>T (p.Lys325Met) c.944A>T (p.Lys315Met) | |
| 11 | g.72229989G>A | CA475592322 | INPPL1 | c.909G>A (p.Lys303=) c.183G>A (p.Lys61=) c.93G>A (p.Lys31=) c.711G>A (p.Lys237=) c.975G>A (p.Lys325=) c.945G>A (p.Lys315=) | gnomAD v4 |
| 11 | g.72229989G>C | CA6169829 | INPPL1 | c.909G>C (p.Lys303Asn) c.183G>C (p.Lys61Asn) c.93G>C (p.Lys31Asn) c.711G>C (p.Lys237Asn) c.975G>C (p.Lys325Asn) c.945G>C (p.Lys315Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229989G= | CA1981897863 | INPPL1 | c.909G= (p.Lys303=) c.183G= (p.Lys61=) c.93G= (p.Lys31=) c.711G= (p.Lys237=) c.975G= (p.Lys325=) c.945G= (p.Lys315=) | |
| 11 | g.72229989G>T | CA381723188 | INPPL1 | c.909G>T (p.Lys303Asn) c.183G>T (p.Lys61Asn) c.93G>T (p.Lys31Asn) c.711G>T (p.Lys237Asn) c.975G>T (p.Lys325Asn) c.945G>T (p.Lys315Asn) | |
| 11 | g.72229990G>A | CA6169830 | INPPL1 | c.910G>A (p.Ala304Thr) c.184G>A (p.Ala62Thr) c.94G>A (p.Ala32Thr) c.712G>A (p.Ala238Thr) c.976G>A (p.Ala326Thr) c.946G>A (p.Ala316Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.72229990G>C | CA381723195 | INPPL1 | c.910G>C (p.Ala304Pro) c.184G>C (p.Ala62Pro) c.94G>C (p.Ala32Pro) c.712G>C (p.Ala238Pro) c.976G>C (p.Ala326Pro) c.946G>C (p.Ala316Pro) | |
| 11 | g.72229990G= | CA1981897864 | INPPL1 | c.910G= (p.Ala304=) c.184G= (p.Ala62=) c.94G= (p.Ala32=) c.712G= (p.Ala238=) c.976G= (p.Ala326=) c.946G= (p.Ala316=) | |
| 11 | g.72229990G>T | CA381723198 | INPPL1 | c.910G>T (p.Ala304Ser) c.184G>T (p.Ala62Ser) c.94G>T (p.Ala32Ser) c.712G>T (p.Ala238Ser) c.976G>T (p.Ala326Ser) c.946G>T (p.Ala316Ser) | |
| 11 | g.72229991C>A | CA381723201 | INPPL1 | c.911C>A (p.Ala304Asp) c.185C>A (p.Ala62Asp) c.95C>A (p.Ala32Asp) c.713C>A (p.Ala238Asp) c.977C>A (p.Ala326Asp) c.947C>A (p.Ala316Asp) | |
| 11 | g.72229991C= | CA1981897865 | INPPL1 | c.911C= (p.Ala304=) c.185C= (p.Ala62=) c.95C= (p.Ala32=) c.713C= (p.Ala238=) c.977C= (p.Ala326=) c.947C= (p.Ala316=) | |
| 11 | g.72229991C>G | CA381723205 | INPPL1 | c.911C>G (p.Ala304Gly) c.185C>G (p.Ala62Gly) c.95C>G (p.Ala32Gly) c.713C>G (p.Ala238Gly) c.977C>G (p.Ala326Gly) c.947C>G (p.Ala316Gly) | |
| 11 | g.72229991C>T | CA381723206 | INPPL1 | c.911C>T (p.Ala304Val) c.185C>T (p.Ala62Val) c.95C>T (p.Ala32Val) c.713C>T (p.Ala238Val) c.977C>T (p.Ala326Val) c.947C>T (p.Ala316Val) | dbSNP gnomAD v4 |
| 11 | g.72229992C>A | CA475592330 | INPPL1 | c.912C>A (p.Ala304=) c.186C>A (p.Ala62=) c.96C>A (p.Ala32=) c.714C>A (p.Ala238=) c.978C>A (p.Ala326=) c.948C>A (p.Ala316=) | |
| 11 | g.72229992C>G | CA475592331 | INPPL1 | c.912C>G (p.Ala304=) c.186C>G (p.Ala62=) c.96C>G (p.Ala32=) c.714C>G (p.Ala238=) c.978C>G (p.Ala326=) c.948C>G (p.Ala316=) | |
| 11 | g.72229992C>T | CA475592332 | INPPL1 | c.912C>T (p.Ala304=) c.186C>T (p.Ala62=) c.96C>T (p.Ala32=) c.714C>T (p.Ala238=) c.978C>T (p.Ala326=) c.948C>T (p.Ala316=) | |
| 11 | g.72229993A= | CA1981897866 | INPPL1 | c.913A= (p.Lys305=) c.187A= (p.Lys63=) c.97A= (p.Lys33=) c.715A= (p.Lys239=) c.979A= (p.Lys327=) c.949A= (p.Lys317=) | |
| 11 | g.72229993A>C | CA381723208 | INPPL1 | c.913A>C (p.Lys305Gln) c.187A>C (p.Lys63Gln) c.97A>C (p.Lys33Gln) c.715A>C (p.Lys239Gln) c.979A>C (p.Lys327Gln) c.949A>C (p.Lys317Gln) | |
| 11 | g.72229993A>G | CA381723226 | INPPL1 | c.913A>G (p.Lys305Glu) c.187A>G (p.Lys63Glu) c.97A>G (p.Lys33Glu) c.715A>G (p.Lys239Glu) c.979A>G (p.Lys327Glu) c.949A>G (p.Lys317Glu) | |
| 11 | g.72229993A>T | CA381723238 | INPPL1 | c.913A>T (p.Lys305Ter) c.187A>T (p.Lys63Ter) c.97A>T (p.Lys33Ter) c.715A>T (p.Lys239Ter) c.979A>T (p.Lys327Ter) c.949A>T (p.Lys317Ter) | |
| 11 | g.72229993_72229994insC | CA6169831 | INPPL1 | c.913_914insC (p.Lys305ThrfsTer9) c.187_188insC (p.Lys63ThrfsTer9) c.97_98insC (p.Lys33ThrfsTer9) c.715_716insC (p.Lys239ThrfsTer9) c.979_980insC (p.Lys327ThrfsTer9) c.949_950insC (p.Lys317ThrfsTer9) | dbSNP ExAC gnomAD v2 |
| 11 | g.72229994A= | CA1981897867 | INPPL1 | c.914A= (p.Lys305=) c.188A= (p.Lys63=) c.98A= (p.Lys33=) c.716A= (p.Lys239=) c.980A= (p.Lys327=) c.950A= (p.Lys317=) | |
| 11 | g.72229994A>C | CA381723242 | INPPL1 | c.914A>C (p.Lys305Thr) c.188A>C (p.Lys63Thr) c.98A>C (p.Lys33Thr) c.716A>C (p.Lys239Thr) c.980A>C (p.Lys327Thr) c.950A>C (p.Lys317Thr) | |
| 11 | g.72229994A>G | CA6169832 | INPPL1 | c.914A>G (p.Lys305Arg) c.188A>G (p.Lys63Arg) c.98A>G (p.Lys33Arg) c.716A>G (p.Lys239Arg) c.980A>G (p.Lys327Arg) c.950A>G (p.Lys317Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.72229994A>T | CA381723241 | INPPL1 | c.914A>T (p.Lys305Met) c.188A>T (p.Lys63Met) c.98A>T (p.Lys33Met) c.716A>T (p.Lys239Met) c.980A>T (p.Lys327Met) c.950A>T (p.Lys317Met) | |
| 11 | g.72229995G>A | CA475592339 | INPPL1 | c.915G>A (p.Lys305=) c.189G>A (p.Lys63=) c.99G>A (p.Lys33=) c.717G>A (p.Lys239=) c.981G>A (p.Lys327=) c.951G>A (p.Lys317=) | |
| 11 | g.72229995G>C | CA6169833 | INPPL1 | c.915G>C (p.Lys305Asn) c.189G>C (p.Lys63Asn) c.99G>C (p.Lys33Asn) c.717G>C (p.Lys239Asn) c.981G>C (p.Lys327Asn) c.951G>C (p.Lys317Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229995G= | CA1981897868 | INPPL1 | c.915G= (p.Lys305=) c.189G= (p.Lys63=) c.99G= (p.Lys33=) c.717G= (p.Lys239=) c.981G= (p.Lys327=) c.951G= (p.Lys317=) | |
| 11 | g.72229995G>T | CA381723245 | INPPL1 | c.915G>T (p.Lys305Asn) c.189G>T (p.Lys63Asn) c.99G>T (p.Lys33Asn) c.717G>T (p.Lys239Asn) c.981G>T (p.Lys327Asn) c.951G>T (p.Lys317Asn) | |
| 11 | g.72229996A>C | CA381723247 | INPPL1 | c.916A>C (p.Thr306Pro) c.190A>C (p.Thr64Pro) c.100A>C (p.Thr34Pro) c.718A>C (p.Thr240Pro) c.982A>C (p.Thr328Pro) c.952A>C (p.Thr318Pro) | |
| 11 | g.72229996A>G | CA381723248 | INPPL1 | c.916A>G (p.Thr306Ala) c.190A>G (p.Thr64Ala) c.100A>G (p.Thr34Ala) c.718A>G (p.Thr240Ala) c.982A>G (p.Thr328Ala) c.952A>G (p.Thr318Ala) | |
| 11 | g.72229996A>T | CA381723251 | INPPL1 | c.916A>T (p.Thr306Ser) c.190A>T (p.Thr64Ser) c.100A>T (p.Thr34Ser) c.718A>T (p.Thr240Ser) c.982A>T (p.Thr328Ser) c.952A>T (p.Thr318Ser) | |
| 11 | g.72229997C>A | CA381723254 | INPPL1 | c.917C>A (p.Thr306Asn) c.191C>A (p.Thr64Asn) c.101C>A (p.Thr34Asn) c.719C>A (p.Thr240Asn) c.983C>A (p.Thr328Asn) c.953C>A (p.Thr318Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72229997C= | CA1981897869 | INPPL1 | c.917C= (p.Thr306=) c.191C= (p.Thr64=) c.101C= (p.Thr34=) c.719C= (p.Thr240=) c.983C= (p.Thr328=) c.953C= (p.Thr318=) | |
| 11 | g.72229997C>G | CA381723266 | INPPL1 | c.917C>G (p.Thr306Ser) c.191C>G (p.Thr64Ser) c.101C>G (p.Thr34Ser) c.719C>G (p.Thr240Ser) c.983C>G (p.Thr328Ser) c.953C>G (p.Thr318Ser) | |
| 11 | g.72229997C>T | CA381723272 | INPPL1 | c.917C>T (p.Thr306Ile) c.191C>T (p.Thr64Ile) c.101C>T (p.Thr34Ile) c.719C>T (p.Thr240Ile) c.983C>T (p.Thr328Ile) c.953C>T (p.Thr318Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72229998C>A | CA475592344 | INPPL1 | c.918C>A (p.Thr306=) c.192C>A (p.Thr64=) c.102C>A (p.Thr34=) c.720C>A (p.Thr240=) c.984C>A (p.Thr328=) c.954C>A (p.Thr318=) | |
| 11 | g.72229998C>G | CA475592345 | INPPL1 | c.918C>G (p.Thr306=) c.192C>G (p.Thr64=) c.102C>G (p.Thr34=) c.720C>G (p.Thr240=) c.984C>G (p.Thr328=) c.954C>G (p.Thr318=) | |
| 11 | g.72229998C>T | CA475592346 | INPPL1 | c.918C>T (p.Thr306=) c.192C>T (p.Thr64=) c.102C>T (p.Thr34=) c.720C>T (p.Thr240=) c.984C>T (p.Thr328=) c.954C>T (p.Thr318=) | |
| 11 | g.72229999A>C | CA381723276 | INPPL1 | c.919A>C (p.Ile307Leu) c.193A>C (p.Ile65Leu) c.103A>C (p.Ile35Leu) c.721A>C (p.Ile241Leu) c.985A>C (p.Ile329Leu) c.955A>C (p.Ile319Leu) | |
| 11 | g.72229999A>G | CA381723281 | INPPL1 | c.919A>G (p.Ile307Val) c.193A>G (p.Ile65Val) c.103A>G (p.Ile35Val) c.721A>G (p.Ile241Val) c.985A>G (p.Ile329Val) c.955A>G (p.Ile319Val) | |
| 11 | g.72229999A>T | CA381723283 | INPPL1 | c.919A>T (p.Ile307Phe) c.193A>T (p.Ile65Phe) c.103A>T (p.Ile35Phe) c.721A>T (p.Ile241Phe) c.985A>T (p.Ile329Phe) c.955A>T (p.Ile319Phe) | |
| 11 | g.72230000T>A | CA381723295 | INPPL1 | c.920T>A (p.Ile307Asn) c.194T>A (p.Ile65Asn) c.104T>A (p.Ile35Asn) c.722T>A (p.Ile241Asn) c.986T>A (p.Ile329Asn) c.956T>A (p.Ile319Asn) | |
| 11 | g.72230000T>C | CA381723288 | INPPL1 | c.920T>C (p.Ile307Thr) c.194T>C (p.Ile65Thr) c.104T>C (p.Ile35Thr) c.722T>C (p.Ile241Thr) c.986T>C (p.Ile329Thr) c.956T>C (p.Ile319Thr) | |
| 11 | g.72230000T>G | CA381723292 | INPPL1 | c.920T>G (p.Ile307Ser) c.194T>G (p.Ile65Ser) c.104T>G (p.Ile35Ser) c.722T>G (p.Ile241Ser) c.986T>G (p.Ile329Ser) c.956T>G (p.Ile319Ser) | |
| 11 | g.72230001C>A | CA475592347 | INPPL1 | c.921C>A (p.Ile307=) c.195C>A (p.Ile65=) c.105C>A (p.Ile35=) c.723C>A (p.Ile241=) c.987C>A (p.Ile329=) c.957C>A (p.Ile319=) | |
| 11 | g.72230001C>G | CA381723302 | INPPL1 | c.921C>G (p.Ile307Met) c.195C>G (p.Ile65Met) c.105C>G (p.Ile35Met) c.723C>G (p.Ile241Met) c.987C>G (p.Ile329Met) c.957C>G (p.Ile319Met) | |
| 11 | g.72230001C>T | CA475592348 | INPPL1 | c.921C>T (p.Ile307=) c.195C>T (p.Ile65=) c.105C>T (p.Ile35=) c.723C>T (p.Ile241=) c.987C>T (p.Ile329=) c.957C>T (p.Ile319=) | ClinVar gnomAD v4 |
| 11 | g.72230002C>A | CA381723303 | INPPL1 | c.922C>A (p.Pro308Thr) c.196C>A (p.Pro66Thr) c.106C>A (p.Pro36Thr) c.724C>A (p.Pro242Thr) c.988C>A (p.Pro330Thr) c.958C>A (p.Pro320Thr) | |
| 11 | g.72230002C= | CA1981897870 | INPPL1 | c.922C= (p.Pro308=) c.196C= (p.Pro66=) c.106C= (p.Pro36=) c.724C= (p.Pro242=) c.988C= (p.Pro330=) c.958C= (p.Pro320=) | |
| 11 | g.72230002C>G | CA6169834 | INPPL1 | c.922C>G (p.Pro308Ala) c.196C>G (p.Pro66Ala) c.106C>G (p.Pro36Ala) c.724C>G (p.Pro242Ala) c.988C>G (p.Pro330Ala) c.958C>G (p.Pro320Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72230002C>T | CA381723311 | INPPL1 | c.922C>T (p.Pro308Ser) c.196C>T (p.Pro66Ser) c.106C>T (p.Pro36Ser) c.724C>T (p.Pro242Ser) c.988C>T (p.Pro330Ser) c.958C>T (p.Pro320Ser) | |
| 11 | g.72230003C>A | CA381723316 | INPPL1 | c.923C>A (p.Pro308His) c.197C>A (p.Pro66His) c.107C>A (p.Pro36His) c.725C>A (p.Pro242His) c.989C>A (p.Pro330His) c.959C>A (p.Pro320His) | |
| 11 | g.72230003C>G | CA381723317 | INPPL1 | c.923C>G (p.Pro308Arg) c.197C>G (p.Pro66Arg) c.107C>G (p.Pro36Arg) c.725C>G (p.Pro242Arg) c.989C>G (p.Pro330Arg) c.959C>G (p.Pro320Arg) | |
| 11 | g.72230003C>T | CA381723318 | INPPL1 | c.923C>T (p.Pro308Leu) c.197C>T (p.Pro66Leu) c.107C>T (p.Pro36Leu) c.725C>T (p.Pro242Leu) c.989C>T (p.Pro330Leu) c.959C>T (p.Pro320Leu) | ClinVar |
| 11 | g.72230004C>A | CA475592349 | INPPL1 | c.924C>A (p.Pro308=) c.198C>A (p.Pro66=) c.108C>A (p.Pro36=) c.726C>A (p.Pro242=) c.990C>A (p.Pro330=) c.960C>A (p.Pro320=) | |
| 11 | g.72230004C= | CA1981897871 | INPPL1 | c.924C= (p.Pro308=) c.198C= (p.Pro66=) c.108C= (p.Pro36=) c.726C= (p.Pro242=) c.990C= (p.Pro330=) c.960C= (p.Pro320=) | |
| 11 | g.72230004C>G | CA475592350 | INPPL1 | c.924C>G (p.Pro308=) c.198C>G (p.Pro66=) c.108C>G (p.Pro36=) c.726C>G (p.Pro242=) c.990C>G (p.Pro330=) c.960C>G (p.Pro320=) | dbSNP |
| 11 | g.72230004C>T | CA6169835 | INPPL1 | c.924C>T (p.Pro308=) c.198C>T (p.Pro66=) c.108C>T (p.Pro36=) c.726C>T (p.Pro242=) c.990C>T (p.Pro330=) c.960C>T (p.Pro320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72230005G>A | CA381723325 | INPPL1 | c.925G>A (p.Val309Met) c.199G>A (p.Val67Met) c.109G>A (p.Val37Met) c.727G>A (p.Val243Met) c.991G>A (p.Val331Met) c.961G>A (p.Val321Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72230005G>C | CA381723327 | INPPL1 | c.925G>C (p.Val309Leu) c.199G>C (p.Val67Leu) c.109G>C (p.Val37Leu) c.727G>C (p.Val243Leu) c.991G>C (p.Val331Leu) c.961G>C (p.Val321Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72230005G= | CA1981897872 | INPPL1 | c.925G= (p.Val309=) c.199G= (p.Val67=) c.109G= (p.Val37=) c.727G= (p.Val243=) c.991G= (p.Val331=) c.961G= (p.Val321=) | |
| 11 | g.72230005G>T | CA6169836 | INPPL1 | c.925G>T (p.Val309Leu) c.199G>T (p.Val67Leu) c.109G>T (p.Val37Leu) c.727G>T (p.Val243Leu) c.991G>T (p.Val331Leu) c.961G>T (p.Val321Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72230006T>A | CA381723332 | INPPL1 | c.926T>A (p.Val309Glu) c.200T>A (p.Val67Glu) c.110T>A (p.Val37Glu) c.728T>A (p.Val243Glu) c.992T>A (p.Val331Glu) c.962T>A (p.Val321Glu) | |
| 11 | g.72230006T>C | CA381723333 | INPPL1 | c.926T>C (p.Val309Ala) c.200T>C (p.Val67Ala) c.110T>C (p.Val37Ala) c.728T>C (p.Val243Ala) c.992T>C (p.Val331Ala) c.962T>C (p.Val321Ala) | |
| 11 | g.72230006T>G | CA381723331 | INPPL1 | c.926T>G (p.Val309Gly) c.200T>G (p.Val67Gly) c.110T>G (p.Val37Gly) c.728T>G (p.Val243Gly) c.992T>G (p.Val331Gly) c.962T>G (p.Val321Gly) | |
| 11 | g.72230007G>A | CA475592353 | INPPL1 | c.927G>A (p.Val309=) c.201G>A (p.Val67=) c.111G>A (p.Val37=) c.729G>A (p.Val243=) c.993G>A (p.Val331=) c.963G>A (p.Val321=) | |
| 11 | g.72230007G>C | CA475592352 | INPPL1 | c.927G>C (p.Val309=) c.201G>C (p.Val67=) c.111G>C (p.Val37=) c.729G>C (p.Val243=) c.993G>C (p.Val331=) c.963G>C (p.Val321=) | |
| 11 | g.72230007G>T | CA475592351 | INPPL1 | c.927G>T (p.Val309=) c.201G>T (p.Val67=) c.111G>T (p.Val37=) c.729G>T (p.Val243=) c.993G>T (p.Val331=) c.963G>T (p.Val321=) | |
| 11 | g.72230008C>A | CA381723338 | INPPL1 | c.928C>A (p.Gln310Lys) c.202C>A (p.Gln68Lys) c.112C>A (p.Gln38Lys) c.730C>A (p.Gln244Lys) c.994C>A (p.Gln332Lys) c.964C>A (p.Gln322Lys) | |
| 11 | g.72230008C>G | CA381723347 | INPPL1 | c.928C>G (p.Gln310Glu) c.202C>G (p.Gln68Glu) c.112C>G (p.Gln38Glu) c.730C>G (p.Gln244Glu) c.994C>G (p.Gln332Glu) c.964C>G (p.Gln322Glu) | |
| 11 | g.72230008C>T | CA381723351 | INPPL1 | c.928C>T (p.Gln310Ter) c.202C>T (p.Gln68Ter) c.112C>T (p.Gln38Ter) c.730C>T (p.Gln244Ter) c.994C>T (p.Gln332Ter) c.964C>T (p.Gln322Ter) | |
| 11 | g.72230009A>C | CA381723358 | INPPL1 | c.929A>C (p.Gln310Pro) c.203A>C (p.Gln68Pro) c.113A>C (p.Gln38Pro) c.731A>C (p.Gln244Pro) c.995A>C (p.Gln332Pro) c.965A>C (p.Gln322Pro) | |
| 11 | g.72230009A>G | CA381723362 | INPPL1 | c.929A>G (p.Gln310Arg) c.203A>G (p.Gln68Arg) c.113A>G (p.Gln38Arg) c.731A>G (p.Gln244Arg) c.995A>G (p.Gln332Arg) c.965A>G (p.Gln322Arg) | |
| 11 | g.72230009A>T | CA381723373 | INPPL1 | c.929A>T (p.Gln310Leu) c.203A>T (p.Gln68Leu) c.113A>T (p.Gln38Leu) c.731A>T (p.Gln244Leu) c.995A>T (p.Gln332Leu) c.965A>T (p.Gln322Leu) | |
| 11 | g.72230010G>A | CA475592354 | INPPL1 | c.930G>A (p.Gln310=) c.204G>A (p.Gln68=) c.114G>A (p.Gln38=) c.732G>A (p.Gln244=) c.996G>A (p.Gln332=) c.966G>A (p.Gln322=) | |
| 11 | g.72230010G>C | CA381723382 | INPPL1 | c.930G>C (p.Gln310His) c.204G>C (p.Gln68His) c.114G>C (p.Gln38His) c.732G>C (p.Gln244His) c.996G>C (p.Gln332His) c.966G>C (p.Gln322His) | |
| 11 | g.72230010G>T | CA381723378 | INPPL1 | c.930G>T (p.Gln310His) c.204G>T (p.Gln68His) c.114G>T (p.Gln38His) c.732G>T (p.Gln244His) c.996G>T (p.Gln332His) c.966G>T (p.Gln322His) | |
| 11 | g.72230011G>A | CA381723387 | INPPL1 | c.931G>A (p.Ala311Thr) c.205G>A (p.Ala69Thr) c.115G>A (p.Ala39Thr) c.733G>A (p.Ala245Thr) c.997G>A (p.Ala333Thr) c.967G>A (p.Ala323Thr) | |
| 11 | g.72230011G>C | CA381723391 | INPPL1 | c.931G>C (p.Ala311Pro) c.205G>C (p.Ala69Pro) c.115G>C (p.Ala39Pro) c.733G>C (p.Ala245Pro) c.997G>C (p.Ala333Pro) c.967G>C (p.Ala323Pro) | gnomAD v4 |
| 11 | g.72230011G= | CA1981897873 | INPPL1 | c.931G= (p.Ala311=) c.205G= (p.Ala69=) c.115G= (p.Ala39=) c.733G= (p.Ala245=) c.997G= (p.Ala333=) c.967G= (p.Ala323=) | |
| 11 | g.72230011G>T | CA381723409 | INPPL1 | c.931G>T (p.Ala311Ser) c.205G>T (p.Ala69Ser) c.115G>T (p.Ala39Ser) c.733G>T (p.Ala245Ser) c.997G>T (p.Ala333Ser) c.967G>T (p.Ala323Ser) | dbSNP |
| 11 | g.72230012C>A | CA381723416 | INPPL1 | c.932C>A (p.Ala311Asp) c.206C>A (p.Ala69Asp) c.116C>A (p.Ala39Asp) c.734C>A (p.Ala245Asp) c.998C>A (p.Ala333Asp) c.968C>A (p.Ala323Asp) | |
| 11 | g.72230012C>G | CA381723420 | INPPL1 | c.932C>G (p.Ala311Gly) c.206C>G (p.Ala69Gly) c.116C>G (p.Ala39Gly) c.734C>G (p.Ala245Gly) c.998C>G (p.Ala333Gly) c.968C>G (p.Ala323Gly) | |
| 11 | g.72230012C>T | CA381723426 | INPPL1 | c.932C>T (p.Ala311Val) c.206C>T (p.Ala69Val) c.116C>T (p.Ala39Val) c.734C>T (p.Ala245Val) c.998C>T (p.Ala333Val) c.968C>T (p.Ala323Val) | |
| 11 | g.72230013C>A | CA475592355 | INPPL1 | c.933C>A (p.Ala311=) c.207C>A (p.Ala69=) c.117C>A (p.Ala39=) c.735C>A (p.Ala245=) c.999C>A (p.Ala333=) c.969C>A (p.Ala323=) | |
| 11 | g.72230013C= | CA1981897874 | INPPL1 | c.933C= (p.Ala311=) c.207C= (p.Ala69=) c.117C= (p.Ala39=) c.735C= (p.Ala245=) c.999C= (p.Ala333=) c.969C= (p.Ala323=) | |
| 11 | g.72230013C>G | CA475592357 | INPPL1 | c.933C>G (p.Ala311=) c.207C>G (p.Ala69=) c.117C>G (p.Ala39=) c.735C>G (p.Ala245=) c.999C>G (p.Ala333=) c.969C>G (p.Ala323=) | |
| 11 | g.72230013C>T | CA475592356 | INPPL1 | c.933C>T (p.Ala311=) c.207C>T (p.Ala69=) c.117C>T (p.Ala39=) c.735C>T (p.Ala245=) c.999C>T (p.Ala333=) c.969C>T (p.Ala323=) | dbSNP |
| 11 | g.72230014T>A | CA381723439 | INPPL1 | c.934T>A (p.Phe312Ile) c.208T>A (p.Phe70Ile) c.118T>A (p.Phe40Ile) c.736T>A (p.Phe246Ile) c.1000T>A (p.Phe334Ile) c.970T>A (p.Phe324Ile) | |
| 11 | g.72230014T>C | CA381723432 | INPPL1 | c.934T>C (p.Phe312Leu) c.208T>C (p.Phe70Leu) c.118T>C (p.Phe40Leu) c.736T>C (p.Phe246Leu) c.1000T>C (p.Phe334Leu) c.970T>C (p.Phe324Leu) | |
| 11 | g.72230014T>G | CA381723436 | INPPL1 | c.934T>G (p.Phe312Val) c.208T>G (p.Phe70Val) c.118T>G (p.Phe40Val) c.736T>G (p.Phe246Val) c.1000T>G (p.Phe334Val) c.970T>G (p.Phe324Val) | |
| 11 | g.72230016del | CA2614932013 | INPPL1 | c.936del (p.Phe312LeufsTer3) c.210del (p.Phe70LeufsTer3) c.120del (p.Phe40LeufsTer3) c.738del (p.Phe246LeufsTer3) c.1002del (p.Phe334LeufsTer3) c.972del (p.Phe324LeufsTer3) | gnomAD v4 |
| 11 | g.72230015T>A | CA381723441 | INPPL1 | c.935T>A (p.Phe312Tyr) c.209T>A (p.Phe70Tyr) c.119T>A (p.Phe40Tyr) c.737T>A (p.Phe246Tyr) c.1001T>A (p.Phe334Tyr) c.971T>A (p.Phe324Tyr) | |
| 11 | g.72230015T>C | CA381723443 | INPPL1 | c.935T>C (p.Phe312Ser) c.209T>C (p.Phe70Ser) c.119T>C (p.Phe40Ser) c.737T>C (p.Phe246Ser) c.1001T>C (p.Phe334Ser) c.971T>C (p.Phe324Ser) | |
| 11 | g.72230015T>G | CA381723447 | INPPL1 | c.935T>G (p.Phe312Cys) c.209T>G (p.Phe70Cys) c.119T>G (p.Phe40Cys) c.737T>G (p.Phe246Cys) c.1001T>G (p.Phe334Cys) c.971T>G (p.Phe324Cys) | |
| 11 | g.72230016T>A | CA381723450 | INPPL1 | c.936T>A (p.Phe312Leu) c.210T>A (p.Phe70Leu) c.120T>A (p.Phe40Leu) c.738T>A (p.Phe246Leu) c.1002T>A (p.Phe334Leu) c.972T>A (p.Phe324Leu) | |
| 11 | g.72230016T>C | CA475592358 | INPPL1 | c.936T>C (p.Phe312=) c.210T>C (p.Phe70=) c.120T>C (p.Phe40=) c.738T>C (p.Phe246=) c.1002T>C (p.Phe334=) c.972T>C (p.Phe324=) | |
| 11 | g.72230016T>G | CA381723451 | INPPL1 | c.936T>G (p.Phe312Leu) c.210T>G (p.Phe70Leu) c.120T>G (p.Phe40Leu) c.738T>G (p.Phe246Leu) c.1002T>G (p.Phe334Leu) c.972T>G (p.Phe324Leu) | gnomAD v4 |
| 11 | g.72230017G>A | CA381723452 | INPPL1 | c.937G>A (p.Glu313Lys) c.211G>A (p.Glu71Lys) c.121G>A (p.Glu41Lys) c.739G>A (p.Glu247Lys) c.1003G>A (p.Glu335Lys) c.973G>A (p.Glu325Lys) | dbSNP COSMIC |
| 11 | g.72230017G>C | CA381723453 | INPPL1 | c.937G>C (p.Glu313Gln) c.211G>C (p.Glu71Gln) c.121G>C (p.Glu41Gln) c.739G>C (p.Glu247Gln) c.1003G>C (p.Glu335Gln) c.973G>C (p.Glu325Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72230017G= | CA1981897875 | INPPL1 | c.937G= (p.Glu313=) c.211G= (p.Glu71=) c.121G= (p.Glu41=) c.739G= (p.Glu247=) c.1003G= (p.Glu335=) c.973G= (p.Glu325=) | |
| 11 | g.72230017G>T | CA381723455 | INPPL1 | c.937G>T (p.Glu313Ter) c.211G>T (p.Glu71Ter) c.121G>T (p.Glu41Ter) c.739G>T (p.Glu247Ter) c.1003G>T (p.Glu335Ter) c.973G>T (p.Glu325Ter) | |
| 11 | g.72230018A= | CA1981897876 | INPPL1 | c.938A= (p.Glu313=) c.212A= (p.Glu71=) c.122A= (p.Glu41=) c.740A= (p.Glu247=) c.1004A= (p.Glu335=) c.974A= (p.Glu325=) | |
| 11 | g.72230018A>C | CA381723456 | INPPL1 | c.938A>C (p.Glu313Ala) c.212A>C (p.Glu71Ala) c.122A>C (p.Glu41Ala) c.740A>C (p.Glu247Ala) c.1004A>C (p.Glu335Ala) c.974A>C (p.Glu325Ala) | dbSNP |
| 11 | g.72230018A>G | CA381723458 | INPPL1 | c.938A>G (p.Glu313Gly) c.212A>G (p.Glu71Gly) c.122A>G (p.Glu41Gly) c.740A>G (p.Glu247Gly) c.1004A>G (p.Glu335Gly) c.974A>G (p.Glu325Gly) | |
| 11 | g.72230018A>T | CA381723461 | INPPL1 | c.938A>T (p.Glu313Val) c.212A>T (p.Glu71Val) c.122A>T (p.Glu41Val) c.740A>T (p.Glu247Val) c.1004A>T (p.Glu335Val) c.974A>T (p.Glu325Val) | COSMIC |
| 11 | g.72230022_72230122del | CA2614932014 | INPPL1 | c.939+3_941del c.213+3_215del c.123+3_125del c.741+3_743del c.1005+3_1007del c.975+3_977del | gnomAD v4 |
| 11 | g.72230019G>A | CA475592359 | INPPL1 | c.939G>A (p.Glu313=) c.213G>A (p.Glu71=) c.123G>A (p.Glu41=) c.741G>A (p.Glu247=) c.1005G>A (p.Glu335=) c.975G>A (p.Glu325=) | |
| 11 | g.72230019G>C | CA381723474 | INPPL1 | c.939G>C (p.Glu313Asp) c.213G>C (p.Glu71Asp) c.123G>C (p.Glu41Asp) c.741G>C (p.Glu247Asp) c.1005G>C (p.Glu335Asp) c.975G>C (p.Glu325Asp) | |
| 11 | g.72230019G>T | CA381723484 | INPPL1 | c.939G>T (p.Glu313Asp) c.213G>T (p.Glu71Asp) c.123G>T (p.Glu41Asp) c.741G>T (p.Glu247Asp) c.1005G>T (p.Glu335Asp) c.975G>T (p.Glu325Asp) |