| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4788048A= | CA1342337443 | ITPR1 | c.6728A= (n.6728A=) c.6693A= (p.Thr2231=) c.6672A= (p.Thr2224=) c.6573A= (p.Thr2191=) c.6528A= (p.Thr2176=) n.609A= c.997-18055A= (n.997-18055A=) c.2616A= n.4221A= c.3052A= c.4479A= (p.Thr1493=) c.3625A= c.6690A= (p.Thr2230=) c.6645A= (p.Thr2215=) c.447-58091A= c.4019A= n.551A= c.6717A= (p.Thr2239=) n.1765A= n.279A= n.4202A= c.6675A= (p.Thr2225=) c.6648A= (p.Thr2216=) c.6600A= (p.Thr2200=) c.6651A= (p.Thr2217=) c.6720A= (p.Thr2240=) c.6687A= (p.Thr2229=) c.6684A= (p.Thr2228=) c.6609A= (p.Thr2203=) | |
| 3 | g.4788048A>C | CA432323044 | ITPR1 | c.6728A>C (n.6728A>C) c.6693A>C (p.Thr2231=) c.6672A>C (p.Thr2224=) c.6573A>C (p.Thr2191=) c.6528A>C (p.Thr2176=) n.609A>C c.997-18055A>C (n.997-18055A>C) c.2616A>C n.4221A>C c.3052A>C c.4479A>C (p.Thr1493=) c.3625A>C c.6690A>C (p.Thr2230=) c.6645A>C (p.Thr2215=) c.447-58091A>C c.4019A>C n.551A>C c.6717A>C (p.Thr2239=) n.1765A>C n.279A>C n.4202A>C c.6675A>C (p.Thr2225=) c.6648A>C (p.Thr2216=) c.6600A>C (p.Thr2200=) c.6651A>C (p.Thr2217=) c.6720A>C (p.Thr2240=) c.6687A>C (p.Thr2229=) c.6684A>C (p.Thr2228=) c.6609A>C (p.Thr2203=) | |
| 3 | g.4788048A>G | CA153219 | ITPR1 | c.6728A>G (n.6728A>G) c.6693A>G (p.Thr2231=) c.6672A>G (p.Thr2224=) c.6573A>G (p.Thr2191=) c.6528A>G (p.Thr2176=) n.609A>G c.997-18055A>G (n.997-18055A>G) c.2616A>G n.4221A>G c.3052A>G c.4479A>G (p.Thr1493=) c.3625A>G c.6690A>G (p.Thr2230=) c.6645A>G (p.Thr2215=) c.447-58091A>G c.4019A>G n.551A>G c.6717A>G (p.Thr2239=) n.1765A>G n.279A>G n.4202A>G c.6675A>G (p.Thr2225=) c.6648A>G (p.Thr2216=) c.6600A>G (p.Thr2200=) c.6651A>G (p.Thr2217=) c.6720A>G (p.Thr2240=) c.6687A>G (p.Thr2229=) c.6684A>G (p.Thr2228=) c.6609A>G (p.Thr2203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4788048A>T | CA432323050 | ITPR1 | c.6728A>T (n.6728A>T) c.6693A>T (p.Thr2231=) c.6672A>T (p.Thr2224=) c.6573A>T (p.Thr2191=) c.6528A>T (p.Thr2176=) n.609A>T c.997-18055A>T (n.997-18055A>T) c.2616A>T n.4221A>T c.3052A>T c.4479A>T (p.Thr1493=) c.3625A>T c.6690A>T (p.Thr2230=) c.6645A>T (p.Thr2215=) c.447-58091A>T c.4019A>T n.551A>T c.6717A>T (p.Thr2239=) n.1765A>T n.279A>T n.4202A>T c.6675A>T (p.Thr2225=) c.6648A>T (p.Thr2216=) c.6600A>T (p.Thr2200=) c.6651A>T (p.Thr2217=) c.6720A>T (p.Thr2240=) c.6687A>T (p.Thr2229=) c.6684A>T (p.Thr2228=) c.6609A>T (p.Thr2203=) | |
| 3 | g.4788048_4788049insAG | CA645535844 | ITPR1 | c.6728_6729insAG (n.6728_6729insAG) c.6693_6694insAG (p.Glu2232ArgfsTer24) c.6672_6673insAG (p.Glu2225ArgfsTer24) c.6573_6574insAG (p.Glu2192ArgfsTer24) c.6528_6529insAG (p.Glu2177ArgfsTer24) n.609_610insAG c.997-18055_997-18054insAG (n.997-18055_997-18054insAG) c.2616_2617insAG n.4221_4222insAG c.3052_3053insAG c.4479_4480insAG (p.Glu1494ArgfsTer24) c.3625_3626insAG c.6690_6691insAG (p.Glu2231ArgfsTer24) c.6645_6646insAG (p.Glu2216ArgfsTer24) c.447-58091_447-58090insAG c.4019_4020insAG n.551_552insAG c.6717_6718insAG (p.Glu2240ArgfsTer24) n.1765_1766insAG n.279_280insAG n.4202_4203insAG c.6675_6676insAG (p.Glu2226ArgfsTer24) c.6648_6649insAG (p.Glu2217ArgfsTer24) c.6600_6601insAG (p.Glu2201ArgfsTer24) c.6651_6652insAG (p.Glu2218ArgfsTer24) c.6720_6721insAG (p.Glu2241ArgfsTer24) c.6687_6688insAG (p.Glu2230ArgfsTer24) c.6684_6685insAG (p.Glu2229ArgfsTer24) c.6609_6610insAG (p.Glu2204ArgfsTer24) | COSMIC COSMIC COSMIC |
| 3 | g.4788049G>A | CA351640646 | ITPR1 | c.6729G>A (n.6729G>A) c.6694G>A (p.Glu2232Lys) c.6673G>A (p.Glu2225Lys) c.6574G>A (p.Glu2192Lys) c.6529G>A (p.Glu2177Lys) n.610G>A c.997-18054G>A (n.997-18054G>A) c.2617G>A n.4222G>A c.3053G>A c.4480G>A (p.Glu1494Lys) c.3626G>A c.6691G>A (p.Glu2231Lys) c.6646G>A (p.Glu2216Lys) c.447-58090G>A c.4020G>A n.552G>A c.6718G>A (p.Glu2240Lys) n.1766G>A n.280G>A n.4203G>A c.6676G>A (p.Glu2226Lys) c.6649G>A (p.Glu2217Lys) c.6601G>A (p.Glu2201Lys) c.6652G>A (p.Glu2218Lys) c.6721G>A (p.Glu2241Lys) c.6688G>A (p.Glu2230Lys) c.6685G>A (p.Glu2229Lys) c.6610G>A (p.Glu2204Lys) | |
| 3 | g.4788049G>C | CA351640647 | ITPR1 | c.6729G>C (n.6729G>C) c.6694G>C (p.Glu2232Gln) c.6673G>C (p.Glu2225Gln) c.6574G>C (p.Glu2192Gln) c.6529G>C (p.Glu2177Gln) n.610G>C c.997-18054G>C (n.997-18054G>C) c.2617G>C n.4222G>C c.3053G>C c.4480G>C (p.Glu1494Gln) c.3626G>C c.6691G>C (p.Glu2231Gln) c.6646G>C (p.Glu2216Gln) c.447-58090G>C c.4020G>C n.552G>C c.6718G>C (p.Glu2240Gln) n.1766G>C n.280G>C n.4203G>C c.6676G>C (p.Glu2226Gln) c.6649G>C (p.Glu2217Gln) c.6601G>C (p.Glu2201Gln) c.6652G>C (p.Glu2218Gln) c.6721G>C (p.Glu2241Gln) c.6688G>C (p.Glu2230Gln) c.6685G>C (p.Glu2229Gln) c.6610G>C (p.Glu2204Gln) | COSMIC COSMIC COSMIC |
| 3 | g.4788049G>T | CA351640648 | ITPR1 | c.6729G>T (n.6729G>T) c.6694G>T (p.Glu2232Ter) c.6673G>T (p.Glu2225Ter) c.6574G>T (p.Glu2192Ter) c.6529G>T (p.Glu2177Ter) n.610G>T c.997-18054G>T (n.997-18054G>T) c.2617G>T n.4222G>T c.3053G>T c.4480G>T (p.Glu1494Ter) c.3626G>T c.6691G>T (p.Glu2231Ter) c.6646G>T (p.Glu2216Ter) c.447-58090G>T c.4020G>T n.552G>T c.6718G>T (p.Glu2240Ter) n.1766G>T n.280G>T n.4203G>T c.6676G>T (p.Glu2226Ter) c.6649G>T (p.Glu2217Ter) c.6601G>T (p.Glu2201Ter) c.6652G>T (p.Glu2218Ter) c.6721G>T (p.Glu2241Ter) c.6688G>T (p.Glu2230Ter) c.6685G>T (p.Glu2229Ter) c.6610G>T (p.Glu2204Ter) | |
| 3 | g.4788050A>C | CA351640651 | ITPR1 | c.6730A>C (n.6730A>C) c.6695A>C (p.Glu2232Ala) c.6674A>C (p.Glu2225Ala) c.6575A>C (p.Glu2192Ala) c.6530A>C (p.Glu2177Ala) n.611A>C c.997-18053A>C (n.997-18053A>C) c.2618A>C n.4223A>C c.3054A>C c.4481A>C (p.Glu1494Ala) c.3627A>C c.6692A>C (p.Glu2231Ala) c.6647A>C (p.Glu2216Ala) c.447-58089A>C c.4021A>C n.553A>C c.6719A>C (p.Glu2240Ala) n.1767A>C n.281A>C n.4204A>C c.6677A>C (p.Glu2226Ala) c.6650A>C (p.Glu2217Ala) c.6602A>C (p.Glu2201Ala) c.6653A>C (p.Glu2218Ala) c.6722A>C (p.Glu2241Ala) c.6689A>C (p.Glu2230Ala) c.6686A>C (p.Glu2229Ala) c.6611A>C (p.Glu2204Ala) | |
| 3 | g.4788050A>G | CA351640649 | ITPR1 | c.6730A>G (n.6730A>G) c.6695A>G (p.Glu2232Gly) c.6674A>G (p.Glu2225Gly) c.6575A>G (p.Glu2192Gly) c.6530A>G (p.Glu2177Gly) n.611A>G c.997-18053A>G (n.997-18053A>G) c.2618A>G n.4223A>G c.3054A>G c.4481A>G (p.Glu1494Gly) c.3627A>G c.6692A>G (p.Glu2231Gly) c.6647A>G (p.Glu2216Gly) c.447-58089A>G c.4021A>G n.553A>G c.6719A>G (p.Glu2240Gly) n.1767A>G n.281A>G n.4204A>G c.6677A>G (p.Glu2226Gly) c.6650A>G (p.Glu2217Gly) c.6602A>G (p.Glu2201Gly) c.6653A>G (p.Glu2218Gly) c.6722A>G (p.Glu2241Gly) c.6689A>G (p.Glu2230Gly) c.6686A>G (p.Glu2229Gly) c.6611A>G (p.Glu2204Gly) | |
| 3 | g.4788050A>T | CA351640650 | ITPR1 | c.6730A>T (n.6730A>T) c.6695A>T (p.Glu2232Val) c.6674A>T (p.Glu2225Val) c.6575A>T (p.Glu2192Val) c.6530A>T (p.Glu2177Val) n.611A>T c.997-18053A>T (n.997-18053A>T) c.2618A>T n.4223A>T c.3054A>T c.4481A>T (p.Glu1494Val) c.3627A>T c.6692A>T (p.Glu2231Val) c.6647A>T (p.Glu2216Val) c.447-58089A>T c.4021A>T n.553A>T c.6719A>T (p.Glu2240Val) n.1767A>T n.281A>T n.4204A>T c.6677A>T (p.Glu2226Val) c.6650A>T (p.Glu2217Val) c.6602A>T (p.Glu2201Val) c.6653A>T (p.Glu2218Val) c.6722A>T (p.Glu2241Val) c.6689A>T (p.Glu2230Val) c.6686A>T (p.Glu2229Val) c.6611A>T (p.Glu2204Val) | gnomAD v4 |
| 3 | g.4788051G>A | CA432323070 | ITPR1 | c.6731G>A (n.6731G>A) c.6696G>A (p.Glu2232=) c.6675G>A (p.Glu2225=) c.6576G>A (p.Glu2192=) c.6531G>A (p.Glu2177=) n.612G>A c.997-18052G>A (n.997-18052G>A) c.2619G>A n.4224G>A c.3055G>A c.4482G>A (p.Glu1494=) c.3628G>A c.6693G>A (p.Glu2231=) c.6648G>A (p.Glu2216=) c.447-58088G>A c.4022G>A n.554G>A c.6720G>A (p.Glu2240=) n.1768G>A n.282G>A n.4205G>A c.6678G>A (p.Glu2226=) c.6651G>A (p.Glu2217=) c.6603G>A (p.Glu2201=) c.6654G>A (p.Glu2218=) c.6723G>A (p.Glu2241=) c.6690G>A (p.Glu2230=) c.6687G>A (p.Glu2229=) c.6612G>A (p.Glu2204=) | |
| 3 | g.4788051G>C | CA68827995 | ITPR1 | c.6731G>C (n.6731G>C) c.6696G>C (p.Glu2232Asp) c.6675G>C (p.Glu2225Asp) c.6576G>C (p.Glu2192Asp) c.6531G>C (p.Glu2177Asp) n.612G>C c.997-18052G>C (n.997-18052G>C) c.2619G>C n.4224G>C c.3055G>C c.4482G>C (p.Glu1494Asp) c.3628G>C c.6693G>C (p.Glu2231Asp) c.6648G>C (p.Glu2216Asp) c.447-58088G>C c.4022G>C n.554G>C c.6720G>C (p.Glu2240Asp) n.1768G>C n.282G>C n.4205G>C c.6678G>C (p.Glu2226Asp) c.6651G>C (p.Glu2217Asp) c.6603G>C (p.Glu2201Asp) c.6654G>C (p.Glu2218Asp) c.6723G>C (p.Glu2241Asp) c.6690G>C (p.Glu2230Asp) c.6687G>C (p.Glu2229Asp) c.6612G>C (p.Glu2204Asp) | ClinVar dbSNP |
| 3 | g.4788051G= | CA1342337444 | ITPR1 | c.6731G= (n.6731G=) c.6696G= (p.Glu2232=) c.6675G= (p.Glu2225=) c.6576G= (p.Glu2192=) c.6531G= (p.Glu2177=) n.612G= c.997-18052G= (n.997-18052G=) c.2619G= n.4224G= c.3055G= c.4482G= (p.Glu1494=) c.3628G= c.6693G= (p.Glu2231=) c.6648G= (p.Glu2216=) c.447-58088G= c.4022G= n.554G= c.6720G= (p.Glu2240=) n.1768G= n.282G= n.4205G= c.6678G= (p.Glu2226=) c.6651G= (p.Glu2217=) c.6603G= (p.Glu2201=) c.6654G= (p.Glu2218=) c.6723G= (p.Glu2241=) c.6690G= (p.Glu2230=) c.6687G= (p.Glu2229=) c.6612G= (p.Glu2204=) | |
| 3 | g.4788051G>T | CA351640652 | ITPR1 | c.6731G>T (n.6731G>T) c.6696G>T (p.Glu2232Asp) c.6675G>T (p.Glu2225Asp) c.6576G>T (p.Glu2192Asp) c.6531G>T (p.Glu2177Asp) n.612G>T c.997-18052G>T (n.997-18052G>T) c.2619G>T n.4224G>T c.3055G>T c.4482G>T (p.Glu1494Asp) c.3628G>T c.6693G>T (p.Glu2231Asp) c.6648G>T (p.Glu2216Asp) c.447-58088G>T c.4022G>T n.554G>T c.6720G>T (p.Glu2240Asp) n.1768G>T n.282G>T n.4205G>T c.6678G>T (p.Glu2226Asp) c.6651G>T (p.Glu2217Asp) c.6603G>T (p.Glu2201Asp) c.6654G>T (p.Glu2218Asp) c.6723G>T (p.Glu2241Asp) c.6690G>T (p.Glu2230Asp) c.6687G>T (p.Glu2229Asp) c.6612G>T (p.Glu2204Asp) | |
| 3 | g.4788052A>C | CA432323089 | ITPR1 | c.6732A>C (n.6732A>C) c.6697A>C (p.Arg2233=) c.6676A>C (p.Arg2226=) c.6577A>C (p.Arg2193=) c.6532A>C (p.Arg2178=) n.613A>C c.997-18051A>C (n.997-18051A>C) c.2620A>C n.4225A>C c.3056A>C c.4483A>C (p.Arg1495=) c.3629A>C c.6694A>C (p.Arg2232=) c.6649A>C (p.Arg2217=) c.447-58087A>C c.4023A>C n.555A>C c.6721A>C (p.Arg2241=) n.1769A>C n.283A>C n.4206A>C c.6679A>C (p.Arg2227=) c.6652A>C (p.Arg2218=) c.6604A>C (p.Arg2202=) c.6655A>C (p.Arg2219=) c.6724A>C (p.Arg2242=) c.6691A>C (p.Arg2231=) c.6688A>C (p.Arg2230=) c.6613A>C (p.Arg2205=) | |
| 3 | g.4788052A>G | CA351640653 | ITPR1 | c.6732A>G (n.6732A>G) c.6697A>G (p.Arg2233Gly) c.6676A>G (p.Arg2226Gly) c.6577A>G (p.Arg2193Gly) c.6532A>G (p.Arg2178Gly) n.613A>G c.997-18051A>G (n.997-18051A>G) c.2620A>G n.4225A>G c.3056A>G c.4483A>G (p.Arg1495Gly) c.3629A>G c.6694A>G (p.Arg2232Gly) c.6649A>G (p.Arg2217Gly) c.447-58087A>G c.4023A>G n.555A>G c.6721A>G (p.Arg2241Gly) n.1769A>G n.283A>G n.4206A>G c.6679A>G (p.Arg2227Gly) c.6652A>G (p.Arg2218Gly) c.6604A>G (p.Arg2202Gly) c.6655A>G (p.Arg2219Gly) c.6724A>G (p.Arg2242Gly) c.6691A>G (p.Arg2231Gly) c.6688A>G (p.Arg2230Gly) c.6613A>G (p.Arg2205Gly) | |
| 3 | g.4788052A>T | CA351640654 | ITPR1 | c.6732A>T (n.6732A>T) c.6697A>T (p.Arg2233Ter) c.6676A>T (p.Arg2226Ter) c.6577A>T (p.Arg2193Ter) c.6532A>T (p.Arg2178Ter) n.613A>T c.997-18051A>T (n.997-18051A>T) c.2620A>T n.4225A>T c.3056A>T c.4483A>T (p.Arg1495Ter) c.3629A>T c.6694A>T (p.Arg2232Ter) c.6649A>T (p.Arg2217Ter) c.447-58087A>T c.4023A>T n.555A>T c.6721A>T (p.Arg2241Ter) n.1769A>T n.283A>T n.4206A>T c.6679A>T (p.Arg2227Ter) c.6652A>T (p.Arg2218Ter) c.6604A>T (p.Arg2202Ter) c.6655A>T (p.Arg2219Ter) c.6724A>T (p.Arg2242Ter) c.6691A>T (p.Arg2231Ter) c.6688A>T (p.Arg2230Ter) c.6613A>T (p.Arg2205Ter) | |
| 3 | g.4788053G>A | CA351640655 | ITPR1 | c.6733G>A (n.6733G>A) c.6698G>A (p.Arg2233Lys) c.6677G>A (p.Arg2226Lys) c.6578G>A (p.Arg2193Lys) c.6533G>A (p.Arg2178Lys) n.614G>A c.997-18050G>A (n.997-18050G>A) c.2621G>A n.4226G>A c.3057G>A c.4484G>A (p.Arg1495Lys) c.3630G>A c.6695G>A (p.Arg2232Lys) c.6650G>A (p.Arg2217Lys) c.447-58086G>A c.4024G>A n.556G>A c.6722G>A (p.Arg2241Lys) n.1770G>A n.284G>A n.4207G>A c.6680G>A (p.Arg2227Lys) c.6653G>A (p.Arg2218Lys) c.6605G>A (p.Arg2202Lys) c.6656G>A (p.Arg2219Lys) c.6725G>A (p.Arg2242Lys) c.6692G>A (p.Arg2231Lys) c.6689G>A (p.Arg2230Lys) c.6614G>A (p.Arg2205Lys) | |
| 3 | g.4788053G>C | CA351640656 | ITPR1 | c.6733G>C (n.6733G>C) c.6698G>C (p.Arg2233Thr) c.6677G>C (p.Arg2226Thr) c.6578G>C (p.Arg2193Thr) c.6533G>C (p.Arg2178Thr) n.614G>C c.997-18050G>C (n.997-18050G>C) c.2621G>C n.4226G>C c.3057G>C c.4484G>C (p.Arg1495Thr) c.3630G>C c.6695G>C (p.Arg2232Thr) c.6650G>C (p.Arg2217Thr) c.447-58086G>C c.4024G>C n.556G>C c.6722G>C (p.Arg2241Thr) n.1770G>C n.284G>C n.4207G>C c.6680G>C (p.Arg2227Thr) c.6653G>C (p.Arg2218Thr) c.6605G>C (p.Arg2202Thr) c.6656G>C (p.Arg2219Thr) c.6725G>C (p.Arg2242Thr) c.6692G>C (p.Arg2231Thr) c.6689G>C (p.Arg2230Thr) c.6614G>C (p.Arg2205Thr) | |
| 3 | g.4788053G>T | CA351640657 | ITPR1 | c.6733G>T (n.6733G>T) c.6698G>T (p.Arg2233Ile) c.6677G>T (p.Arg2226Ile) c.6578G>T (p.Arg2193Ile) c.6533G>T (p.Arg2178Ile) n.614G>T c.997-18050G>T (n.997-18050G>T) c.2621G>T n.4226G>T c.3057G>T c.4484G>T (p.Arg1495Ile) c.3630G>T c.6695G>T (p.Arg2232Ile) c.6650G>T (p.Arg2217Ile) c.447-58086G>T c.4024G>T n.556G>T c.6722G>T (p.Arg2241Ile) n.1770G>T n.284G>T n.4207G>T c.6680G>T (p.Arg2227Ile) c.6653G>T (p.Arg2218Ile) c.6605G>T (p.Arg2202Ile) c.6656G>T (p.Arg2219Ile) c.6725G>T (p.Arg2242Ile) c.6692G>T (p.Arg2231Ile) c.6689G>T (p.Arg2230Ile) c.6614G>T (p.Arg2205Ile) | |
| 3 | g.4788054A>C | CA351640658 | ITPR1 | c.6734A>C (n.6734A>C) c.6699A>C (p.Arg2233Ser) c.6678A>C (p.Arg2226Ser) c.6579A>C (p.Arg2193Ser) c.6534A>C (p.Arg2178Ser) n.615A>C c.997-18049A>C (n.997-18049A>C) c.2622A>C n.4227A>C c.3058A>C c.4485A>C (p.Arg1495Ser) c.3631A>C c.6696A>C (p.Arg2232Ser) c.6651A>C (p.Arg2217Ser) c.447-58085A>C c.4025A>C n.557A>C c.6723A>C (p.Arg2241Ser) n.1771A>C n.285A>C n.4208A>C c.6681A>C (p.Arg2227Ser) c.6654A>C (p.Arg2218Ser) c.6606A>C (p.Arg2202Ser) c.6657A>C (p.Arg2219Ser) c.6726A>C (p.Arg2242Ser) c.6693A>C (p.Arg2231Ser) c.6690A>C (p.Arg2230Ser) c.6615A>C (p.Arg2205Ser) | |
| 3 | g.4788054A>G | CA432323099 | ITPR1 | c.6734A>G (n.6734A>G) c.6699A>G (p.Arg2233=) c.6678A>G (p.Arg2226=) c.6579A>G (p.Arg2193=) c.6534A>G (p.Arg2178=) n.615A>G c.997-18049A>G (n.997-18049A>G) c.2622A>G n.4227A>G c.3058A>G c.4485A>G (p.Arg1495=) c.3631A>G c.6696A>G (p.Arg2232=) c.6651A>G (p.Arg2217=) c.447-58085A>G c.4025A>G n.557A>G c.6723A>G (p.Arg2241=) n.1771A>G n.285A>G n.4208A>G c.6681A>G (p.Arg2227=) c.6654A>G (p.Arg2218=) c.6606A>G (p.Arg2202=) c.6657A>G (p.Arg2219=) c.6726A>G (p.Arg2242=) c.6693A>G (p.Arg2231=) c.6690A>G (p.Arg2230=) c.6615A>G (p.Arg2205=) | |
| 3 | g.4788054A>T | CA351640659 | ITPR1 | c.6734A>T (n.6734A>T) c.6699A>T (p.Arg2233Ser) c.6678A>T (p.Arg2226Ser) c.6579A>T (p.Arg2193Ser) c.6534A>T (p.Arg2178Ser) n.615A>T c.997-18049A>T (n.997-18049A>T) c.2622A>T n.4227A>T c.3058A>T c.4485A>T (p.Arg1495Ser) c.3631A>T c.6696A>T (p.Arg2232Ser) c.6651A>T (p.Arg2217Ser) c.447-58085A>T c.4025A>T n.557A>T c.6723A>T (p.Arg2241Ser) n.1771A>T n.285A>T n.4208A>T c.6681A>T (p.Arg2227Ser) c.6654A>T (p.Arg2218Ser) c.6606A>T (p.Arg2202Ser) c.6657A>T (p.Arg2219Ser) c.6726A>T (p.Arg2242Ser) c.6693A>T (p.Arg2231Ser) c.6690A>T (p.Arg2230Ser) c.6615A>T (p.Arg2205Ser) | |
| 3 | g.4788055G>A | CA351640660 | ITPR1 | c.6735G>A (n.6735G>A) c.6700G>A (p.Asp2234Asn) c.6679G>A (p.Asp2227Asn) c.6580G>A (p.Asp2194Asn) c.6535G>A (p.Asp2179Asn) n.616G>A c.997-18048G>A (n.997-18048G>A) c.2623G>A n.4228G>A c.3059G>A c.4486G>A (p.Asp1496Asn) c.3632G>A c.6697G>A (p.Asp2233Asn) c.6652G>A (p.Asp2218Asn) c.447-58084G>A c.4026G>A n.558G>A c.6724G>A (p.Asp2242Asn) n.1772G>A n.286G>A n.4209G>A c.6682G>A (p.Asp2228Asn) c.6655G>A (p.Asp2219Asn) c.6607G>A (p.Asp2203Asn) c.6658G>A (p.Asp2220Asn) c.6727G>A (p.Asp2243Asn) c.6694G>A (p.Asp2232Asn) c.6691G>A (p.Asp2231Asn) c.6616G>A (p.Asp2206Asn) | |
| 3 | g.4788055G>C | CA351640661 | ITPR1 | c.6735G>C (n.6735G>C) c.6700G>C (p.Asp2234His) c.6679G>C (p.Asp2227His) c.6580G>C (p.Asp2194His) c.6535G>C (p.Asp2179His) n.616G>C c.997-18048G>C (n.997-18048G>C) c.2623G>C n.4228G>C c.3059G>C c.4486G>C (p.Asp1496His) c.3632G>C c.6697G>C (p.Asp2233His) c.6652G>C (p.Asp2218His) c.447-58084G>C c.4026G>C n.558G>C c.6724G>C (p.Asp2242His) n.1772G>C n.286G>C n.4209G>C c.6682G>C (p.Asp2228His) c.6655G>C (p.Asp2219His) c.6607G>C (p.Asp2203His) c.6658G>C (p.Asp2220His) c.6727G>C (p.Asp2243His) c.6694G>C (p.Asp2232His) c.6691G>C (p.Asp2231His) c.6616G>C (p.Asp2206His) | |
| 3 | g.4788055G>T | CA351640662 | ITPR1 | c.6735G>T (n.6735G>T) c.6700G>T (p.Asp2234Tyr) c.6679G>T (p.Asp2227Tyr) c.6580G>T (p.Asp2194Tyr) c.6535G>T (p.Asp2179Tyr) n.616G>T c.997-18048G>T (n.997-18048G>T) c.2623G>T n.4228G>T c.3059G>T c.4486G>T (p.Asp1496Tyr) c.3632G>T c.6697G>T (p.Asp2233Tyr) c.6652G>T (p.Asp2218Tyr) c.447-58084G>T c.4026G>T n.558G>T c.6724G>T (p.Asp2242Tyr) n.1772G>T n.286G>T n.4209G>T c.6682G>T (p.Asp2228Tyr) c.6655G>T (p.Asp2219Tyr) c.6607G>T (p.Asp2203Tyr) c.6658G>T (p.Asp2220Tyr) c.6727G>T (p.Asp2243Tyr) c.6694G>T (p.Asp2232Tyr) c.6691G>T (p.Asp2231Tyr) c.6616G>T (p.Asp2206Tyr) | |
| 3 | g.4788056A>C | CA351640664 | ITPR1 | c.6736A>C (n.6736A>C) c.6701A>C (p.Asp2234Ala) c.6680A>C (p.Asp2227Ala) c.6581A>C (p.Asp2194Ala) c.6536A>C (p.Asp2179Ala) n.617A>C c.997-18047A>C (n.997-18047A>C) c.2624A>C n.4229A>C c.3060A>C c.4487A>C (p.Asp1496Ala) c.3633A>C c.6698A>C (p.Asp2233Ala) c.6653A>C (p.Asp2218Ala) c.447-58083A>C c.4027A>C n.559A>C c.6725A>C (p.Asp2242Ala) n.1773A>C n.287A>C n.4210A>C c.6683A>C (p.Asp2228Ala) c.6656A>C (p.Asp2219Ala) c.6608A>C (p.Asp2203Ala) c.6659A>C (p.Asp2220Ala) c.6728A>C (p.Asp2243Ala) c.6695A>C (p.Asp2232Ala) c.6692A>C (p.Asp2231Ala) c.6617A>C (p.Asp2206Ala) | |
| 3 | g.4788056A>G | CA351640665 | ITPR1 | c.6736A>G (n.6736A>G) c.6701A>G (p.Asp2234Gly) c.6680A>G (p.Asp2227Gly) c.6581A>G (p.Asp2194Gly) c.6536A>G (p.Asp2179Gly) n.617A>G c.997-18047A>G (n.997-18047A>G) c.2624A>G n.4229A>G c.3060A>G c.4487A>G (p.Asp1496Gly) c.3633A>G c.6698A>G (p.Asp2233Gly) c.6653A>G (p.Asp2218Gly) c.447-58083A>G c.4027A>G n.559A>G c.6725A>G (p.Asp2242Gly) n.1773A>G n.287A>G n.4210A>G c.6683A>G (p.Asp2228Gly) c.6656A>G (p.Asp2219Gly) c.6608A>G (p.Asp2203Gly) c.6659A>G (p.Asp2220Gly) c.6728A>G (p.Asp2243Gly) c.6695A>G (p.Asp2232Gly) c.6692A>G (p.Asp2231Gly) c.6617A>G (p.Asp2206Gly) | |
| 3 | g.4788056A>T | CA351640663 | ITPR1 | c.6736A>T (n.6736A>T) c.6701A>T (p.Asp2234Val) c.6680A>T (p.Asp2227Val) c.6581A>T (p.Asp2194Val) c.6536A>T (p.Asp2179Val) n.617A>T c.997-18047A>T (n.997-18047A>T) c.2624A>T n.4229A>T c.3060A>T c.4487A>T (p.Asp1496Val) c.3633A>T c.6698A>T (p.Asp2233Val) c.6653A>T (p.Asp2218Val) c.447-58083A>T c.4027A>T n.559A>T c.6725A>T (p.Asp2242Val) n.1773A>T n.287A>T n.4210A>T c.6683A>T (p.Asp2228Val) c.6656A>T (p.Asp2219Val) c.6608A>T (p.Asp2203Val) c.6659A>T (p.Asp2220Val) c.6728A>T (p.Asp2243Val) c.6695A>T (p.Asp2232Val) c.6692A>T (p.Asp2231Val) c.6617A>T (p.Asp2206Val) | |
| 3 | g.4788057C>A | CA351640667 | ITPR1 | c.6737C>A (n.6737C>A) c.6702C>A (p.Asp2234Glu) c.6681C>A (p.Asp2227Glu) c.6582C>A (p.Asp2194Glu) c.6537C>A (p.Asp2179Glu) n.618C>A c.997-18046C>A (n.997-18046C>A) c.2625C>A n.4230C>A c.3061C>A c.4488C>A (p.Asp1496Glu) c.3634C>A c.6699C>A (p.Asp2233Glu) c.6654C>A (p.Asp2218Glu) c.447-58082C>A c.4028C>A n.560C>A c.6726C>A (p.Asp2242Glu) n.1774C>A n.288C>A n.4211C>A c.6684C>A (p.Asp2228Glu) c.6657C>A (p.Asp2219Glu) c.6609C>A (p.Asp2203Glu) c.6660C>A (p.Asp2220Glu) c.6729C>A (p.Asp2243Glu) c.6696C>A (p.Asp2232Glu) c.6693C>A (p.Asp2231Glu) c.6618C>A (p.Asp2206Glu) | |
| 3 | g.4788057C= | CA1342337445 | ITPR1 | c.6737C= (n.6737C=) c.6702C= (p.Asp2234=) c.6681C= (p.Asp2227=) c.6582C= (p.Asp2194=) c.6537C= (p.Asp2179=) n.618C= c.997-18046C= (n.997-18046C=) c.2625C= n.4230C= c.3061C= c.4488C= (p.Asp1496=) c.3634C= c.6699C= (p.Asp2233=) c.6654C= (p.Asp2218=) c.447-58082C= c.4028C= n.560C= c.6726C= (p.Asp2242=) n.1774C= n.288C= n.4211C= c.6684C= (p.Asp2228=) c.6657C= (p.Asp2219=) c.6609C= (p.Asp2203=) c.6660C= (p.Asp2220=) c.6729C= (p.Asp2243=) c.6696C= (p.Asp2232=) c.6693C= (p.Asp2231=) c.6618C= (p.Asp2206=) | |
| 3 | g.4788057C>G | CA351640666 | ITPR1 | c.6737C>G (n.6737C>G) c.6702C>G (p.Asp2234Glu) c.6681C>G (p.Asp2227Glu) c.6582C>G (p.Asp2194Glu) c.6537C>G (p.Asp2179Glu) n.618C>G c.997-18046C>G (n.997-18046C>G) c.2625C>G n.4230C>G c.3061C>G c.4488C>G (p.Asp1496Glu) c.3634C>G c.6699C>G (p.Asp2233Glu) c.6654C>G (p.Asp2218Glu) c.447-58082C>G c.4028C>G n.560C>G c.6726C>G (p.Asp2242Glu) n.1774C>G n.288C>G n.4211C>G c.6684C>G (p.Asp2228Glu) c.6657C>G (p.Asp2219Glu) c.6609C>G (p.Asp2203Glu) c.6660C>G (p.Asp2220Glu) c.6729C>G (p.Asp2243Glu) c.6696C>G (p.Asp2232Glu) c.6693C>G (p.Asp2231Glu) c.6618C>G (p.Asp2206Glu) | |
| 3 | g.4788057C>T | CA2232658 | ITPR1 | c.6737C>T (n.6737C>T) c.6702C>T (p.Asp2234=) c.6681C>T (p.Asp2227=) c.6582C>T (p.Asp2194=) c.6537C>T (p.Asp2179=) n.618C>T c.997-18046C>T (n.997-18046C>T) c.2625C>T n.4230C>T c.3061C>T c.4488C>T (p.Asp1496=) c.3634C>T c.6699C>T (p.Asp2233=) c.6654C>T (p.Asp2218=) c.447-58082C>T c.4028C>T n.560C>T c.6726C>T (p.Asp2242=) n.1774C>T n.288C>T n.4211C>T c.6684C>T (p.Asp2228=) c.6657C>T (p.Asp2219=) c.6609C>T (p.Asp2203=) c.6660C>T (p.Asp2220=) c.6729C>T (p.Asp2243=) c.6696C>T (p.Asp2232=) c.6693C>T (p.Asp2231=) c.6618C>T (p.Asp2206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.4788058G>A | CA351640668 | ITPR1 | c.6738G>A (n.6738G>A) c.6703G>A (p.Glu2235Lys) c.6682G>A (p.Glu2228Lys) c.6583G>A (p.Glu2195Lys) c.6538G>A (p.Glu2180Lys) n.619G>A c.997-18045G>A (n.997-18045G>A) c.2626G>A n.4231G>A c.3062G>A c.4489G>A (p.Glu1497Lys) c.3635G>A c.6700G>A (p.Glu2234Lys) c.6655G>A (p.Glu2219Lys) c.447-58081G>A c.4029G>A n.561G>A c.6727G>A (p.Glu2243Lys) n.1775G>A n.289G>A n.4212G>A c.6685G>A (p.Glu2229Lys) c.6658G>A (p.Glu2220Lys) c.6610G>A (p.Glu2204Lys) c.6661G>A (p.Glu2221Lys) c.6730G>A (p.Glu2244Lys) c.6697G>A (p.Glu2233Lys) c.6694G>A (p.Glu2232Lys) c.6619G>A (p.Glu2207Lys) | COSMIC COSMIC COSMIC |
| 3 | g.4788058G>C | CA351640670 | ITPR1 | c.6738G>C (n.6738G>C) c.6703G>C (p.Glu2235Gln) c.6682G>C (p.Glu2228Gln) c.6583G>C (p.Glu2195Gln) c.6538G>C (p.Glu2180Gln) n.619G>C c.997-18045G>C (n.997-18045G>C) c.2626G>C n.4231G>C c.3062G>C c.4489G>C (p.Glu1497Gln) c.3635G>C c.6700G>C (p.Glu2234Gln) c.6655G>C (p.Glu2219Gln) c.447-58081G>C c.4029G>C n.561G>C c.6727G>C (p.Glu2243Gln) n.1775G>C n.289G>C n.4212G>C c.6685G>C (p.Glu2229Gln) c.6658G>C (p.Glu2220Gln) c.6610G>C (p.Glu2204Gln) c.6661G>C (p.Glu2221Gln) c.6730G>C (p.Glu2244Gln) c.6697G>C (p.Glu2233Gln) c.6694G>C (p.Glu2232Gln) c.6619G>C (p.Glu2207Gln) | |
| 3 | g.4788058G>T | CA351640669 | ITPR1 | c.6738G>T (n.6738G>T) c.6703G>T (p.Glu2235Ter) c.6682G>T (p.Glu2228Ter) c.6583G>T (p.Glu2195Ter) c.6538G>T (p.Glu2180Ter) n.619G>T c.997-18045G>T (n.997-18045G>T) c.2626G>T n.4231G>T c.3062G>T c.4489G>T (p.Glu1497Ter) c.3635G>T c.6700G>T (p.Glu2234Ter) c.6655G>T (p.Glu2219Ter) c.447-58081G>T c.4029G>T n.561G>T c.6727G>T (p.Glu2243Ter) n.1775G>T n.289G>T n.4212G>T c.6685G>T (p.Glu2229Ter) c.6658G>T (p.Glu2220Ter) c.6610G>T (p.Glu2204Ter) c.6661G>T (p.Glu2221Ter) c.6730G>T (p.Glu2244Ter) c.6697G>T (p.Glu2233Ter) c.6694G>T (p.Glu2232Ter) c.6619G>T (p.Glu2207Ter) | gnomAD v4 |
| 3 | g.4788059A>C | CA351640671 | ITPR1 | c.6739A>C (n.6739A>C) c.6704A>C (p.Glu2235Ala) c.6683A>C (p.Glu2228Ala) c.6584A>C (p.Glu2195Ala) c.6539A>C (p.Glu2180Ala) n.620A>C c.997-18044A>C (n.997-18044A>C) c.2627A>C n.4232A>C c.3063A>C c.4490A>C (p.Glu1497Ala) c.3636A>C c.6701A>C (p.Glu2234Ala) c.6656A>C (p.Glu2219Ala) c.447-58080A>C c.4030A>C n.562A>C c.6728A>C (p.Glu2243Ala) n.1776A>C n.290A>C n.4213A>C c.6686A>C (p.Glu2229Ala) c.6659A>C (p.Glu2220Ala) c.6611A>C (p.Glu2204Ala) c.6662A>C (p.Glu2221Ala) c.6731A>C (p.Glu2244Ala) c.6698A>C (p.Glu2233Ala) c.6695A>C (p.Glu2232Ala) c.6620A>C (p.Glu2207Ala) | |
| 3 | g.4788059A>G | CA351640673 | ITPR1 | c.6739A>G (n.6739A>G) c.6704A>G (p.Glu2235Gly) c.6683A>G (p.Glu2228Gly) c.6584A>G (p.Glu2195Gly) c.6539A>G (p.Glu2180Gly) n.620A>G c.997-18044A>G (n.997-18044A>G) c.2627A>G n.4232A>G c.3063A>G c.4490A>G (p.Glu1497Gly) c.3636A>G c.6701A>G (p.Glu2234Gly) c.6656A>G (p.Glu2219Gly) c.447-58080A>G c.4030A>G n.562A>G c.6728A>G (p.Glu2243Gly) n.1776A>G n.290A>G n.4213A>G c.6686A>G (p.Glu2229Gly) c.6659A>G (p.Glu2220Gly) c.6611A>G (p.Glu2204Gly) c.6662A>G (p.Glu2221Gly) c.6731A>G (p.Glu2244Gly) c.6698A>G (p.Glu2233Gly) c.6695A>G (p.Glu2232Gly) c.6620A>G (p.Glu2207Gly) | |
| 3 | g.4788059A>T | CA351640672 | ITPR1 | c.6739A>T (n.6739A>T) c.6704A>T (p.Glu2235Val) c.6683A>T (p.Glu2228Val) c.6584A>T (p.Glu2195Val) c.6539A>T (p.Glu2180Val) n.620A>T c.997-18044A>T (n.997-18044A>T) c.2627A>T n.4232A>T c.3063A>T c.4490A>T (p.Glu1497Val) c.3636A>T c.6701A>T (p.Glu2234Val) c.6656A>T (p.Glu2219Val) c.447-58080A>T c.4030A>T n.562A>T c.6728A>T (p.Glu2243Val) n.1776A>T n.290A>T n.4213A>T c.6686A>T (p.Glu2229Val) c.6659A>T (p.Glu2220Val) c.6611A>T (p.Glu2204Val) c.6662A>T (p.Glu2221Val) c.6731A>T (p.Glu2244Val) c.6698A>T (p.Glu2233Val) c.6695A>T (p.Glu2232Val) c.6620A>T (p.Glu2207Val) | |
| 3 | g.4788060A>C | CA351640674 | ITPR1 | c.6740A>C (n.6740A>C) c.6705A>C (p.Glu2235Asp) c.6684A>C (p.Glu2228Asp) c.6585A>C (p.Glu2195Asp) c.6540A>C (p.Glu2180Asp) n.621A>C c.997-18043A>C (n.997-18043A>C) c.2628A>C n.4233A>C c.3064A>C c.4491A>C (p.Glu1497Asp) c.3637A>C c.6702A>C (p.Glu2234Asp) c.6657A>C (p.Glu2219Asp) c.447-58079A>C c.4031A>C n.563A>C c.6729A>C (p.Glu2243Asp) n.1777A>C n.291A>C n.4214A>C c.6687A>C (p.Glu2229Asp) c.6660A>C (p.Glu2220Asp) c.6612A>C (p.Glu2204Asp) c.6663A>C (p.Glu2221Asp) c.6732A>C (p.Glu2244Asp) c.6699A>C (p.Glu2233Asp) c.6696A>C (p.Glu2232Asp) c.6621A>C (p.Glu2207Asp) | |
| 3 | g.4788060A>G | CA432323145 | ITPR1 | c.6740A>G (n.6740A>G) c.6705A>G (p.Glu2235=) c.6684A>G (p.Glu2228=) c.6585A>G (p.Glu2195=) c.6540A>G (p.Glu2180=) n.621A>G c.997-18043A>G (n.997-18043A>G) c.2628A>G n.4233A>G c.3064A>G c.4491A>G (p.Glu1497=) c.3637A>G c.6702A>G (p.Glu2234=) c.6657A>G (p.Glu2219=) c.447-58079A>G c.4031A>G n.563A>G c.6729A>G (p.Glu2243=) n.1777A>G n.291A>G n.4214A>G c.6687A>G (p.Glu2229=) c.6660A>G (p.Glu2220=) c.6612A>G (p.Glu2204=) c.6663A>G (p.Glu2221=) c.6732A>G (p.Glu2244=) c.6699A>G (p.Glu2233=) c.6696A>G (p.Glu2232=) c.6621A>G (p.Glu2207=) | |
| 3 | g.4788060A>T | CA351640675 | ITPR1 | c.6740A>T (n.6740A>T) c.6705A>T (p.Glu2235Asp) c.6684A>T (p.Glu2228Asp) c.6585A>T (p.Glu2195Asp) c.6540A>T (p.Glu2180Asp) n.621A>T c.997-18043A>T (n.997-18043A>T) c.2628A>T n.4233A>T c.3064A>T c.4491A>T (p.Glu1497Asp) c.3637A>T c.6702A>T (p.Glu2234Asp) c.6657A>T (p.Glu2219Asp) c.447-58079A>T c.4031A>T n.563A>T c.6729A>T (p.Glu2243Asp) n.1777A>T n.291A>T n.4214A>T c.6687A>T (p.Glu2229Asp) c.6660A>T (p.Glu2220Asp) c.6612A>T (p.Glu2204Asp) c.6663A>T (p.Glu2221Asp) c.6732A>T (p.Glu2244Asp) c.6699A>T (p.Glu2233Asp) c.6696A>T (p.Glu2232Asp) c.6621A>T (p.Glu2207Asp) | |
| 3 | g.4788061C>A | CA351640676 | ITPR1 | c.6741C>A (n.6741C>A) c.6706C>A (p.Gln2236Lys) c.6685C>A (p.Gln2229Lys) c.6586C>A (p.Gln2196Lys) c.6541C>A (p.Gln2181Lys) n.622C>A c.997-18042C>A (n.997-18042C>A) c.2629C>A n.4234C>A c.3065C>A c.4492C>A (p.Gln1498Lys) c.3638C>A c.6703C>A (p.Gln2235Lys) c.6658C>A (p.Gln2220Lys) c.447-58078C>A c.4032C>A n.564C>A c.6730C>A (p.Gln2244Lys) n.1778C>A n.292C>A n.4215C>A c.6688C>A (p.Gln2230Lys) c.6661C>A (p.Gln2221Lys) c.6613C>A (p.Gln2205Lys) c.6664C>A (p.Gln2222Lys) c.6733C>A (p.Gln2245Lys) c.6700C>A (p.Gln2234Lys) c.6697C>A (p.Gln2233Lys) c.6622C>A (p.Gln2208Lys) | |
| 3 | g.4788061C>G | CA351640677 | ITPR1 | c.6741C>G (n.6741C>G) c.6706C>G (p.Gln2236Glu) c.6685C>G (p.Gln2229Glu) c.6586C>G (p.Gln2196Glu) c.6541C>G (p.Gln2181Glu) n.622C>G c.997-18042C>G (n.997-18042C>G) c.2629C>G n.4234C>G c.3065C>G c.4492C>G (p.Gln1498Glu) c.3638C>G c.6703C>G (p.Gln2235Glu) c.6658C>G (p.Gln2220Glu) c.447-58078C>G c.4032C>G n.564C>G c.6730C>G (p.Gln2244Glu) n.1778C>G n.292C>G n.4215C>G c.6688C>G (p.Gln2230Glu) c.6661C>G (p.Gln2221Glu) c.6613C>G (p.Gln2205Glu) c.6664C>G (p.Gln2222Glu) c.6733C>G (p.Gln2245Glu) c.6700C>G (p.Gln2234Glu) c.6697C>G (p.Gln2233Glu) c.6622C>G (p.Gln2208Glu) | |
| 3 | g.4788061C>T | CA351640678 | ITPR1 | c.6741C>T (n.6741C>T) c.6706C>T (p.Gln2236Ter) c.6685C>T (p.Gln2229Ter) c.6586C>T (p.Gln2196Ter) c.6541C>T (p.Gln2181Ter) n.622C>T c.997-18042C>T (n.997-18042C>T) c.2629C>T n.4234C>T c.3065C>T c.4492C>T (p.Gln1498Ter) c.3638C>T c.6703C>T (p.Gln2235Ter) c.6658C>T (p.Gln2220Ter) c.447-58078C>T c.4032C>T n.564C>T c.6730C>T (p.Gln2244Ter) n.1778C>T n.292C>T n.4215C>T c.6688C>T (p.Gln2230Ter) c.6661C>T (p.Gln2221Ter) c.6613C>T (p.Gln2205Ter) c.6664C>T (p.Gln2222Ter) c.6733C>T (p.Gln2245Ter) c.6700C>T (p.Gln2234Ter) c.6697C>T (p.Gln2233Ter) c.6622C>T (p.Gln2208Ter) | |
| 3 | g.4788062A>C | CA351640679 | ITPR1 | c.6742A>C (n.6742A>C) c.6707A>C (p.Gln2236Pro) c.6686A>C (p.Gln2229Pro) c.6587A>C (p.Gln2196Pro) c.6542A>C (p.Gln2181Pro) n.623A>C c.997-18041A>C (n.997-18041A>C) c.2630A>C n.4235A>C c.3066A>C c.4493A>C (p.Gln1498Pro) c.3639A>C c.6704A>C (p.Gln2235Pro) c.6659A>C (p.Gln2220Pro) c.447-58077A>C c.4033A>C n.565A>C c.6731A>C (p.Gln2244Pro) n.1779A>C n.293A>C n.4216A>C c.6689A>C (p.Gln2230Pro) c.6662A>C (p.Gln2221Pro) c.6614A>C (p.Gln2205Pro) c.6665A>C (p.Gln2222Pro) c.6734A>C (p.Gln2245Pro) c.6701A>C (p.Gln2234Pro) c.6698A>C (p.Gln2233Pro) c.6623A>C (p.Gln2208Pro) | |
| 3 | g.4788062A>G | CA351640680 | ITPR1 | c.6742A>G (n.6742A>G) c.6707A>G (p.Gln2236Arg) c.6686A>G (p.Gln2229Arg) c.6587A>G (p.Gln2196Arg) c.6542A>G (p.Gln2181Arg) n.623A>G c.997-18041A>G (n.997-18041A>G) c.2630A>G n.4235A>G c.3066A>G c.4493A>G (p.Gln1498Arg) c.3639A>G c.6704A>G (p.Gln2235Arg) c.6659A>G (p.Gln2220Arg) c.447-58077A>G c.4033A>G n.565A>G c.6731A>G (p.Gln2244Arg) n.1779A>G n.293A>G n.4216A>G c.6689A>G (p.Gln2230Arg) c.6662A>G (p.Gln2221Arg) c.6614A>G (p.Gln2205Arg) c.6665A>G (p.Gln2222Arg) c.6734A>G (p.Gln2245Arg) c.6701A>G (p.Gln2234Arg) c.6698A>G (p.Gln2233Arg) c.6623A>G (p.Gln2208Arg) | |
| 3 | g.4788062A>T | CA351640681 | ITPR1 | c.6742A>T (n.6742A>T) c.6707A>T (p.Gln2236Leu) c.6686A>T (p.Gln2229Leu) c.6587A>T (p.Gln2196Leu) c.6542A>T (p.Gln2181Leu) n.623A>T c.997-18041A>T (n.997-18041A>T) c.2630A>T n.4235A>T c.3066A>T c.4493A>T (p.Gln1498Leu) c.3639A>T c.6704A>T (p.Gln2235Leu) c.6659A>T (p.Gln2220Leu) c.447-58077A>T c.4033A>T n.565A>T c.6731A>T (p.Gln2244Leu) n.1779A>T n.293A>T n.4216A>T c.6689A>T (p.Gln2230Leu) c.6662A>T (p.Gln2221Leu) c.6614A>T (p.Gln2205Leu) c.6665A>T (p.Gln2222Leu) c.6734A>T (p.Gln2245Leu) c.6701A>T (p.Gln2234Leu) c.6698A>T (p.Gln2233Leu) c.6623A>T (p.Gln2208Leu) | |
| 3 | g.4788063A>C | CA351640682 | ITPR1 | c.6743A>C (n.6743A>C) c.6708A>C (p.Gln2236His) c.6687A>C (p.Gln2229His) c.6588A>C (p.Gln2196His) c.6543A>C (p.Gln2181His) n.624A>C c.997-18040A>C (n.997-18040A>C) c.2631A>C n.4236A>C c.3067A>C c.4494A>C (p.Gln1498His) c.3640A>C c.6705A>C (p.Gln2235His) c.6660A>C (p.Gln2220His) c.447-58076A>C c.4034A>C n.566A>C c.6732A>C (p.Gln2244His) n.1780A>C n.294A>C n.4217A>C c.6690A>C (p.Gln2230His) c.6663A>C (p.Gln2221His) c.6615A>C (p.Gln2205His) c.6666A>C (p.Gln2222His) c.6735A>C (p.Gln2245His) c.6702A>C (p.Gln2234His) c.6699A>C (p.Gln2233His) c.6624A>C (p.Gln2208His) |