UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.4779584A= | CA1342333215 | ITPR1 | c.6337A= (n.6337A=) c.6302A= (p.Glu2101=) c.6281A= (p.Glu2094=) c.6182A= (p.Glu2061=) c.6137A= (p.Glu2046=) c.997-26519A= (n.997-26519A=) c.2225A= n.3830A= c.2661A= c.4088A= (p.Glu1363=) c.3234A= c.6299A= (p.Glu2100=) c.6254A= (p.Glu2085=) c.447-66555A= c.3628A= n.160A= c.6326A= (p.Glu2109=) n.1374A= n.3811A= c.6284A= (p.Glu2095=) c.6257A= (p.Glu2086=) c.6209A= (p.Glu2070=) c.6260A= (p.Glu2087=) c.6329A= (p.Glu2110=) c.6296A= (p.Glu2099=) c.6293A= (p.Glu2098=) c.6218A= (p.Glu2073=) | |
| 3 | g.4779584A>C | CA351638303 | ITPR1 | c.6337A>C (n.6337A>C) c.6302A>C (p.Glu2101Ala) c.6281A>C (p.Glu2094Ala) c.6182A>C (p.Glu2061Ala) c.6137A>C (p.Glu2046Ala) c.997-26519A>C (n.997-26519A>C) c.2225A>C n.3830A>C c.2661A>C c.4088A>C (p.Glu1363Ala) c.3234A>C c.6299A>C (p.Glu2100Ala) c.6254A>C (p.Glu2085Ala) c.447-66555A>C c.3628A>C n.160A>C c.6326A>C (p.Glu2109Ala) n.1374A>C n.3811A>C c.6284A>C (p.Glu2095Ala) c.6257A>C (p.Glu2086Ala) c.6209A>C (p.Glu2070Ala) c.6260A>C (p.Glu2087Ala) c.6329A>C (p.Glu2110Ala) c.6296A>C (p.Glu2099Ala) c.6293A>C (p.Glu2098Ala) c.6218A>C (p.Glu2073Ala) | |
| 3 | g.4779584A>G | CA10581497 | ITPR1 | c.6337A>G (n.6337A>G) c.6302A>G (p.Glu2101Gly) c.6281A>G (p.Glu2094Gly) c.6182A>G (p.Glu2061Gly) c.6137A>G (p.Glu2046Gly) c.997-26519A>G (n.997-26519A>G) c.2225A>G n.3830A>G c.2661A>G c.4088A>G (p.Glu1363Gly) c.3234A>G c.6299A>G (p.Glu2100Gly) c.6254A>G (p.Glu2085Gly) c.447-66555A>G c.3628A>G n.160A>G c.6326A>G (p.Glu2109Gly) n.1374A>G n.3811A>G c.6284A>G (p.Glu2095Gly) c.6257A>G (p.Glu2086Gly) c.6209A>G (p.Glu2070Gly) c.6260A>G (p.Glu2087Gly) c.6329A>G (p.Glu2110Gly) c.6296A>G (p.Glu2099Gly) c.6293A>G (p.Glu2098Gly) c.6218A>G (p.Glu2073Gly) | ClinVar dbSNP |
| 3 | g.4779584A>T | CA351638304 | ITPR1 | c.6337A>T (n.6337A>T) c.6302A>T (p.Glu2101Val) c.6281A>T (p.Glu2094Val) c.6182A>T (p.Glu2061Val) c.6137A>T (p.Glu2046Val) c.997-26519A>T (n.997-26519A>T) c.2225A>T n.3830A>T c.2661A>T c.4088A>T (p.Glu1363Val) c.3234A>T c.6299A>T (p.Glu2100Val) c.6254A>T (p.Glu2085Val) c.447-66555A>T c.3628A>T n.160A>T c.6326A>T (p.Glu2109Val) n.1374A>T n.3811A>T c.6284A>T (p.Glu2095Val) c.6257A>T (p.Glu2086Val) c.6209A>T (p.Glu2070Val) c.6260A>T (p.Glu2087Val) c.6329A>T (p.Glu2110Val) c.6296A>T (p.Glu2099Val) c.6293A>T (p.Glu2098Val) c.6218A>T (p.Glu2073Val) | |
| 3 | g.4779585A= | CA1342333216 | ITPR1 | c.6338A= (n.6338A=) c.6303A= (p.Glu2101=) c.6282A= (p.Glu2094=) c.6183A= (p.Glu2061=) c.6138A= (p.Glu2046=) c.997-26518A= (n.997-26518A=) c.2226A= n.3831A= c.2662A= c.4089A= (p.Glu1363=) c.3235A= c.6300A= (p.Glu2100=) c.6255A= (p.Glu2085=) c.447-66554A= c.3629A= n.161A= c.6327A= (p.Glu2109=) n.1375A= n.3812A= c.6285A= (p.Glu2095=) c.6258A= (p.Glu2086=) c.6210A= (p.Glu2070=) c.6261A= (p.Glu2087=) c.6330A= (p.Glu2110=) c.6297A= (p.Glu2099=) c.6294A= (p.Glu2098=) c.6219A= (p.Glu2073=) | |
| 3 | g.4779585A>C | CA351638305 | ITPR1 | c.6338A>C (n.6338A>C) c.6303A>C (p.Glu2101Asp) c.6282A>C (p.Glu2094Asp) c.6183A>C (p.Glu2061Asp) c.6138A>C (p.Glu2046Asp) c.997-26518A>C (n.997-26518A>C) c.2226A>C n.3831A>C c.2662A>C c.4089A>C (p.Glu1363Asp) c.3235A>C c.6300A>C (p.Glu2100Asp) c.6255A>C (p.Glu2085Asp) c.447-66554A>C c.3629A>C n.161A>C c.6327A>C (p.Glu2109Asp) n.1375A>C n.3812A>C c.6285A>C (p.Glu2095Asp) c.6258A>C (p.Glu2086Asp) c.6210A>C (p.Glu2070Asp) c.6261A>C (p.Glu2087Asp) c.6330A>C (p.Glu2110Asp) c.6297A>C (p.Glu2099Asp) c.6294A>C (p.Glu2098Asp) c.6219A>C (p.Glu2073Asp) | |
| 3 | g.4779585A>G | CA432318197 | ITPR1 | c.6338A>G (n.6338A>G) c.6303A>G (p.Glu2101=) c.6282A>G (p.Glu2094=) c.6183A>G (p.Glu2061=) c.6138A>G (p.Glu2046=) c.997-26518A>G (n.997-26518A>G) c.2226A>G n.3831A>G c.2662A>G c.4089A>G (p.Glu1363=) c.3235A>G c.6300A>G (p.Glu2100=) c.6255A>G (p.Glu2085=) c.447-66554A>G c.3629A>G n.161A>G c.6327A>G (p.Glu2109=) n.1375A>G n.3812A>G c.6285A>G (p.Glu2095=) c.6258A>G (p.Glu2086=) c.6210A>G (p.Glu2070=) c.6261A>G (p.Glu2087=) c.6330A>G (p.Glu2110=) c.6297A>G (p.Glu2099=) c.6294A>G (p.Glu2098=) c.6219A>G (p.Glu2073=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.4779585A>T | CA351638306 | ITPR1 | c.6338A>T (n.6338A>T) c.6303A>T (p.Glu2101Asp) c.6282A>T (p.Glu2094Asp) c.6183A>T (p.Glu2061Asp) c.6138A>T (p.Glu2046Asp) c.997-26518A>T (n.997-26518A>T) c.2226A>T n.3831A>T c.2662A>T c.4089A>T (p.Glu1363Asp) c.3235A>T c.6300A>T (p.Glu2100Asp) c.6255A>T (p.Glu2085Asp) c.447-66554A>T c.3629A>T n.161A>T c.6327A>T (p.Glu2109Asp) n.1375A>T n.3812A>T c.6285A>T (p.Glu2095Asp) c.6258A>T (p.Glu2086Asp) c.6210A>T (p.Glu2070Asp) c.6261A>T (p.Glu2087Asp) c.6330A>T (p.Glu2110Asp) c.6297A>T (p.Glu2099Asp) c.6294A>T (p.Glu2098Asp) c.6219A>T (p.Glu2073Asp) | |
| 3 | g.4779586A>C | CA351638307 | ITPR1 | c.6339A>C (n.6339A>C) c.6304A>C (p.Ser2102Arg) c.6283A>C (p.Ser2095Arg) c.6184A>C (p.Ser2062Arg) c.6139A>C (p.Ser2047Arg) c.997-26517A>C (n.997-26517A>C) c.2227A>C n.3832A>C c.2663A>C c.4090A>C (p.Ser1364Arg) c.3236A>C c.6301A>C (p.Ser2101Arg) c.6256A>C (p.Ser2086Arg) c.447-66553A>C c.3630A>C n.162A>C c.6328A>C (p.Ser2110Arg) n.1376A>C n.3813A>C c.6286A>C (p.Ser2096Arg) c.6259A>C (p.Ser2087Arg) c.6211A>C (p.Ser2071Arg) c.6262A>C (p.Ser2088Arg) c.6331A>C (p.Ser2111Arg) c.6298A>C (p.Ser2100Arg) c.6295A>C (p.Ser2099Arg) c.6220A>C (p.Ser2074Arg) | |
| 3 | g.4779586A>G | CA351638309 | ITPR1 | c.6339A>G (n.6339A>G) c.6304A>G (p.Ser2102Gly) c.6283A>G (p.Ser2095Gly) c.6184A>G (p.Ser2062Gly) c.6139A>G (p.Ser2047Gly) c.997-26517A>G (n.997-26517A>G) c.2227A>G n.3832A>G c.2663A>G c.4090A>G (p.Ser1364Gly) c.3236A>G c.6301A>G (p.Ser2101Gly) c.6256A>G (p.Ser2086Gly) c.447-66553A>G c.3630A>G n.162A>G c.6328A>G (p.Ser2110Gly) n.1376A>G n.3813A>G c.6286A>G (p.Ser2096Gly) c.6259A>G (p.Ser2087Gly) c.6211A>G (p.Ser2071Gly) c.6262A>G (p.Ser2088Gly) c.6331A>G (p.Ser2111Gly) c.6298A>G (p.Ser2100Gly) c.6295A>G (p.Ser2099Gly) c.6220A>G (p.Ser2074Gly) | |
| 3 | g.4779586A>T | CA351638308 | ITPR1 | c.6339A>T (n.6339A>T) c.6304A>T (p.Ser2102Cys) c.6283A>T (p.Ser2095Cys) c.6184A>T (p.Ser2062Cys) c.6139A>T (p.Ser2047Cys) c.997-26517A>T (n.997-26517A>T) c.2227A>T n.3832A>T c.2663A>T c.4090A>T (p.Ser1364Cys) c.3236A>T c.6301A>T (p.Ser2101Cys) c.6256A>T (p.Ser2086Cys) c.447-66553A>T c.3630A>T n.162A>T c.6328A>T (p.Ser2110Cys) n.1376A>T n.3813A>T c.6286A>T (p.Ser2096Cys) c.6259A>T (p.Ser2087Cys) c.6211A>T (p.Ser2071Cys) c.6262A>T (p.Ser2088Cys) c.6331A>T (p.Ser2111Cys) c.6298A>T (p.Ser2100Cys) c.6295A>T (p.Ser2099Cys) c.6220A>T (p.Ser2074Cys) | |
| 3 | g.4779587G>A | CA351638310 | ITPR1 | c.6340G>A (n.6340G>A) c.6305G>A (p.Ser2102Asn) c.6284G>A (p.Ser2095Asn) c.6185G>A (p.Ser2062Asn) c.6140G>A (p.Ser2047Asn) c.997-26516G>A (n.997-26516G>A) c.2228G>A n.3833G>A c.2664G>A c.4091G>A (p.Ser1364Asn) c.3237G>A c.6302G>A (p.Ser2101Asn) c.6257G>A (p.Ser2086Asn) c.447-66552G>A c.3631G>A n.163G>A c.6329G>A (p.Ser2110Asn) n.1377G>A n.3814G>A c.6287G>A (p.Ser2096Asn) c.6260G>A (p.Ser2087Asn) c.6212G>A (p.Ser2071Asn) c.6263G>A (p.Ser2088Asn) c.6332G>A (p.Ser2111Asn) c.6299G>A (p.Ser2100Asn) c.6296G>A (p.Ser2099Asn) c.6221G>A (p.Ser2074Asn) | |
| 3 | g.4779587G>C | CA351638311 | ITPR1 | c.6340G>C (n.6340G>C) c.6305G>C (p.Ser2102Thr) c.6284G>C (p.Ser2095Thr) c.6185G>C (p.Ser2062Thr) c.6140G>C (p.Ser2047Thr) c.997-26516G>C (n.997-26516G>C) c.2228G>C n.3833G>C c.2664G>C c.4091G>C (p.Ser1364Thr) c.3237G>C c.6302G>C (p.Ser2101Thr) c.6257G>C (p.Ser2086Thr) c.447-66552G>C c.3631G>C n.163G>C c.6329G>C (p.Ser2110Thr) n.1377G>C n.3814G>C c.6287G>C (p.Ser2096Thr) c.6260G>C (p.Ser2087Thr) c.6212G>C (p.Ser2071Thr) c.6263G>C (p.Ser2088Thr) c.6332G>C (p.Ser2111Thr) c.6299G>C (p.Ser2100Thr) c.6296G>C (p.Ser2099Thr) c.6221G>C (p.Ser2074Thr) | |
| 3 | g.4779587G>T | CA351638312 | ITPR1 | c.6340G>T (n.6340G>T) c.6305G>T (p.Ser2102Ile) c.6284G>T (p.Ser2095Ile) c.6185G>T (p.Ser2062Ile) c.6140G>T (p.Ser2047Ile) c.997-26516G>T (n.997-26516G>T) c.2228G>T n.3833G>T c.2664G>T c.4091G>T (p.Ser1364Ile) c.3237G>T c.6302G>T (p.Ser2101Ile) c.6257G>T (p.Ser2086Ile) c.447-66552G>T c.3631G>T n.163G>T c.6329G>T (p.Ser2110Ile) n.1377G>T n.3814G>T c.6287G>T (p.Ser2096Ile) c.6260G>T (p.Ser2087Ile) c.6212G>T (p.Ser2071Ile) c.6263G>T (p.Ser2088Ile) c.6332G>T (p.Ser2111Ile) c.6299G>T (p.Ser2100Ile) c.6296G>T (p.Ser2099Ile) c.6221G>T (p.Ser2074Ile) | |
| 3 | g.4779588C>A | CA351638313 | ITPR1 | c.6341C>A (n.6341C>A) c.6306C>A (p.Ser2102Arg) c.6285C>A (p.Ser2095Arg) c.6186C>A (p.Ser2062Arg) c.6141C>A (p.Ser2047Arg) c.997-26515C>A (n.997-26515C>A) c.2229C>A n.3834C>A c.2665C>A c.4092C>A (p.Ser1364Arg) c.3238C>A c.6303C>A (p.Ser2101Arg) c.6258C>A (p.Ser2086Arg) c.447-66551C>A c.3632C>A n.164C>A c.6330C>A (p.Ser2110Arg) n.1378C>A n.3815C>A c.6288C>A (p.Ser2096Arg) c.6261C>A (p.Ser2087Arg) c.6213C>A (p.Ser2071Arg) c.6264C>A (p.Ser2088Arg) c.6333C>A (p.Ser2111Arg) c.6300C>A (p.Ser2100Arg) c.6297C>A (p.Ser2099Arg) c.6222C>A (p.Ser2074Arg) | gnomAD v4 |
| 3 | g.4779588C>G | CA351638314 | ITPR1 | c.6341C>G (n.6341C>G) c.6306C>G (p.Ser2102Arg) c.6285C>G (p.Ser2095Arg) c.6186C>G (p.Ser2062Arg) c.6141C>G (p.Ser2047Arg) c.997-26515C>G (n.997-26515C>G) c.2229C>G n.3834C>G c.2665C>G c.4092C>G (p.Ser1364Arg) c.3238C>G c.6303C>G (p.Ser2101Arg) c.6258C>G (p.Ser2086Arg) c.447-66551C>G c.3632C>G n.164C>G c.6330C>G (p.Ser2110Arg) n.1378C>G n.3815C>G c.6288C>G (p.Ser2096Arg) c.6261C>G (p.Ser2087Arg) c.6213C>G (p.Ser2071Arg) c.6264C>G (p.Ser2088Arg) c.6333C>G (p.Ser2111Arg) c.6300C>G (p.Ser2100Arg) c.6297C>G (p.Ser2099Arg) c.6222C>G (p.Ser2074Arg) | |
| 3 | g.4779588C>T | CA432318229 | ITPR1 | c.6341C>T (n.6341C>T) c.6306C>T (p.Ser2102=) c.6285C>T (p.Ser2095=) c.6186C>T (p.Ser2062=) c.6141C>T (p.Ser2047=) c.997-26515C>T (n.997-26515C>T) c.2229C>T n.3834C>T c.2665C>T c.4092C>T (p.Ser1364=) c.3238C>T c.6303C>T (p.Ser2101=) c.6258C>T (p.Ser2086=) c.447-66551C>T c.3632C>T n.164C>T c.6330C>T (p.Ser2110=) n.1378C>T n.3815C>T c.6288C>T (p.Ser2096=) c.6261C>T (p.Ser2087=) c.6213C>T (p.Ser2071=) c.6264C>T (p.Ser2088=) c.6333C>T (p.Ser2111=) c.6300C>T (p.Ser2100=) c.6297C>T (p.Ser2099=) c.6222C>T (p.Ser2074=) | |
| 3 | g.4779589A>C | CA432318238 | ITPR1 | c.6342A>C (n.6342A>C) c.6307A>C (p.Arg2103=) c.6286A>C (p.Arg2096=) c.6187A>C (p.Arg2063=) c.6142A>C (p.Arg2048=) c.997-26514A>C (n.997-26514A>C) c.2230A>C n.3835A>C c.2666A>C c.4093A>C (p.Arg1365=) c.3239A>C c.6304A>C (p.Arg2102=) c.6259A>C (p.Arg2087=) c.447-66550A>C c.3633A>C n.165A>C c.6331A>C (p.Arg2111=) n.1379A>C n.3816A>C c.6289A>C (p.Arg2097=) c.6262A>C (p.Arg2088=) c.6214A>C (p.Arg2072=) c.6265A>C (p.Arg2089=) c.6334A>C (p.Arg2112=) c.6301A>C (p.Arg2101=) c.6298A>C (p.Arg2100=) c.6223A>C (p.Arg2075=) | |
| 3 | g.4779589A>G | CA351638315 | ITPR1 | c.6342A>G (n.6342A>G) c.6307A>G (p.Arg2103Gly) c.6286A>G (p.Arg2096Gly) c.6187A>G (p.Arg2063Gly) c.6142A>G (p.Arg2048Gly) c.997-26514A>G (n.997-26514A>G) c.2230A>G n.3835A>G c.2666A>G c.4093A>G (p.Arg1365Gly) c.3239A>G c.6304A>G (p.Arg2102Gly) c.6259A>G (p.Arg2087Gly) c.447-66550A>G c.3633A>G n.165A>G c.6331A>G (p.Arg2111Gly) n.1379A>G n.3816A>G c.6289A>G (p.Arg2097Gly) c.6262A>G (p.Arg2088Gly) c.6214A>G (p.Arg2072Gly) c.6265A>G (p.Arg2089Gly) c.6334A>G (p.Arg2112Gly) c.6301A>G (p.Arg2101Gly) c.6298A>G (p.Arg2100Gly) c.6223A>G (p.Arg2075Gly) | |
| 3 | g.4779589A>T | CA351638316 | ITPR1 | c.6342A>T (n.6342A>T) c.6307A>T (p.Arg2103Trp) c.6286A>T (p.Arg2096Trp) c.6187A>T (p.Arg2063Trp) c.6142A>T (p.Arg2048Trp) c.997-26514A>T (n.997-26514A>T) c.2230A>T n.3835A>T c.2666A>T c.4093A>T (p.Arg1365Trp) c.3239A>T c.6304A>T (p.Arg2102Trp) c.6259A>T (p.Arg2087Trp) c.447-66550A>T c.3633A>T n.165A>T c.6331A>T (p.Arg2111Trp) n.1379A>T n.3816A>T c.6289A>T (p.Arg2097Trp) c.6262A>T (p.Arg2088Trp) c.6214A>T (p.Arg2072Trp) c.6265A>T (p.Arg2089Trp) c.6334A>T (p.Arg2112Trp) c.6301A>T (p.Arg2101Trp) c.6298A>T (p.Arg2100Trp) c.6223A>T (p.Arg2075Trp) | |
| 3 | g.4779590G>A | CA351638319 | ITPR1 | c.6343G>A (n.6343G>A) c.6308G>A (p.Arg2103Lys) c.6287G>A (p.Arg2096Lys) c.6188G>A (p.Arg2063Lys) c.6143G>A (p.Arg2048Lys) c.997-26513G>A (n.997-26513G>A) c.2231G>A n.3836G>A c.2667G>A c.4094G>A (p.Arg1365Lys) c.3240G>A c.6305G>A (p.Arg2102Lys) c.6260G>A (p.Arg2087Lys) c.447-66549G>A c.3634G>A n.166G>A c.6332G>A (p.Arg2111Lys) n.1380G>A n.3817G>A c.6290G>A (p.Arg2097Lys) c.6263G>A (p.Arg2088Lys) c.6215G>A (p.Arg2072Lys) c.6266G>A (p.Arg2089Lys) c.6335G>A (p.Arg2112Lys) c.6302G>A (p.Arg2101Lys) c.6299G>A (p.Arg2100Lys) c.6224G>A (p.Arg2075Lys) | |
| 3 | g.4779590G>C | CA351638317 | ITPR1 | c.6343G>C (n.6343G>C) c.6308G>C (p.Arg2103Thr) c.6287G>C (p.Arg2096Thr) c.6188G>C (p.Arg2063Thr) c.6143G>C (p.Arg2048Thr) c.997-26513G>C (n.997-26513G>C) c.2231G>C n.3836G>C c.2667G>C c.4094G>C (p.Arg1365Thr) c.3240G>C c.6305G>C (p.Arg2102Thr) c.6260G>C (p.Arg2087Thr) c.447-66549G>C c.3634G>C n.166G>C c.6332G>C (p.Arg2111Thr) n.1380G>C n.3817G>C c.6290G>C (p.Arg2097Thr) c.6263G>C (p.Arg2088Thr) c.6215G>C (p.Arg2072Thr) c.6266G>C (p.Arg2089Thr) c.6335G>C (p.Arg2112Thr) c.6302G>C (p.Arg2101Thr) c.6299G>C (p.Arg2100Thr) c.6224G>C (p.Arg2075Thr) | |
| 3 | g.4779590G>T | CA351638318 | ITPR1 | c.6343G>T (n.6343G>T) c.6308G>T (p.Arg2103Met) c.6287G>T (p.Arg2096Met) c.6188G>T (p.Arg2063Met) c.6143G>T (p.Arg2048Met) c.997-26513G>T (n.997-26513G>T) c.2231G>T n.3836G>T c.2667G>T c.4094G>T (p.Arg1365Met) c.3240G>T c.6305G>T (p.Arg2102Met) c.6260G>T (p.Arg2087Met) c.447-66549G>T c.3634G>T n.166G>T c.6332G>T (p.Arg2111Met) n.1380G>T n.3817G>T c.6290G>T (p.Arg2097Met) c.6263G>T (p.Arg2088Met) c.6215G>T (p.Arg2072Met) c.6266G>T (p.Arg2089Met) c.6335G>T (p.Arg2112Met) c.6302G>T (p.Arg2101Met) c.6299G>T (p.Arg2100Met) c.6224G>T (p.Arg2075Met) | |
| 3 | g.4779591G>A | CA432318251 | ITPR1 | c.6344G>A (n.6344G>A) c.6309G>A (p.Arg2103=) c.6288G>A (p.Arg2096=) c.6189G>A (p.Arg2063=) c.6144G>A (p.Arg2048=) c.997-26512G>A (n.997-26512G>A) c.2232G>A n.3837G>A c.2668G>A c.4095G>A (p.Arg1365=) c.3241G>A c.6306G>A (p.Arg2102=) c.6261G>A (p.Arg2087=) c.447-66548G>A c.3635G>A n.167G>A c.6333G>A (p.Arg2111=) n.1381G>A n.3818G>A c.6291G>A (p.Arg2097=) c.6264G>A (p.Arg2088=) c.6216G>A (p.Arg2072=) c.6267G>A (p.Arg2089=) c.6336G>A (p.Arg2112=) c.6303G>A (p.Arg2101=) c.6300G>A (p.Arg2100=) c.6225G>A (p.Arg2075=) | |
| 3 | g.4779591G>C | CA351638320 | ITPR1 | c.6344G>C (n.6344G>C) c.6309G>C (p.Arg2103Ser) c.6288G>C (p.Arg2096Ser) c.6189G>C (p.Arg2063Ser) c.6144G>C (p.Arg2048Ser) c.997-26512G>C (n.997-26512G>C) c.2232G>C n.3837G>C c.2668G>C c.4095G>C (p.Arg1365Ser) c.3241G>C c.6306G>C (p.Arg2102Ser) c.6261G>C (p.Arg2087Ser) c.447-66548G>C c.3635G>C n.167G>C c.6333G>C (p.Arg2111Ser) n.1381G>C n.3818G>C c.6291G>C (p.Arg2097Ser) c.6264G>C (p.Arg2088Ser) c.6216G>C (p.Arg2072Ser) c.6267G>C (p.Arg2089Ser) c.6336G>C (p.Arg2112Ser) c.6303G>C (p.Arg2101Ser) c.6300G>C (p.Arg2100Ser) c.6225G>C (p.Arg2075Ser) | gnomAD v4 |
| 3 | g.4779591G>T | CA351638321 | ITPR1 | c.6344G>T (n.6344G>T) c.6309G>T (p.Arg2103Ser) c.6288G>T (p.Arg2096Ser) c.6189G>T (p.Arg2063Ser) c.6144G>T (p.Arg2048Ser) c.997-26512G>T (n.997-26512G>T) c.2232G>T n.3837G>T c.2668G>T c.4095G>T (p.Arg1365Ser) c.3241G>T c.6306G>T (p.Arg2102Ser) c.6261G>T (p.Arg2087Ser) c.447-66548G>T c.3635G>T n.167G>T c.6333G>T (p.Arg2111Ser) n.1381G>T n.3818G>T c.6291G>T (p.Arg2097Ser) c.6264G>T (p.Arg2088Ser) c.6216G>T (p.Arg2072Ser) c.6267G>T (p.Arg2089Ser) c.6336G>T (p.Arg2112Ser) c.6303G>T (p.Arg2101Ser) c.6300G>T (p.Arg2100Ser) c.6225G>T (p.Arg2075Ser) | |
| 3 | g.4779592C>A | CA351638322 | ITPR1 | c.6345C>A (n.6345C>A) c.6310C>A (p.His2104Asn) c.6289C>A (p.His2097Asn) c.6190C>A (p.His2064Asn) c.6145C>A (p.His2049Asn) c.997-26511C>A (n.997-26511C>A) c.2233C>A n.3838C>A c.2669C>A c.4096C>A (p.His1366Asn) c.3242C>A c.6307C>A (p.His2103Asn) c.6262C>A (p.His2088Asn) c.447-66547C>A c.3636C>A n.168C>A c.6334C>A (p.His2112Asn) n.1382C>A n.3819C>A c.6292C>A (p.His2098Asn) c.6265C>A (p.His2089Asn) c.6217C>A (p.His2073Asn) c.6268C>A (p.His2090Asn) c.6337C>A (p.His2113Asn) c.6304C>A (p.His2102Asn) c.6301C>A (p.His2101Asn) c.6226C>A (p.His2076Asn) | |
| 3 | g.4779592C>G | CA351638323 | ITPR1 | c.6345C>G (n.6345C>G) c.6310C>G (p.His2104Asp) c.6289C>G (p.His2097Asp) c.6190C>G (p.His2064Asp) c.6145C>G (p.His2049Asp) c.997-26511C>G (n.997-26511C>G) c.2233C>G n.3838C>G c.2669C>G c.4096C>G (p.His1366Asp) c.3242C>G c.6307C>G (p.His2103Asp) c.6262C>G (p.His2088Asp) c.447-66547C>G c.3636C>G n.168C>G c.6334C>G (p.His2112Asp) n.1382C>G n.3819C>G c.6292C>G (p.His2098Asp) c.6265C>G (p.His2089Asp) c.6217C>G (p.His2073Asp) c.6268C>G (p.His2090Asp) c.6337C>G (p.His2113Asp) c.6304C>G (p.His2102Asp) c.6301C>G (p.His2101Asp) c.6226C>G (p.His2076Asp) | |
| 3 | g.4779592C>T | CA351638324 | ITPR1 | c.6345C>T (n.6345C>T) c.6310C>T (p.His2104Tyr) c.6289C>T (p.His2097Tyr) c.6190C>T (p.His2064Tyr) c.6145C>T (p.His2049Tyr) c.997-26511C>T (n.997-26511C>T) c.2233C>T n.3838C>T c.2669C>T c.4096C>T (p.His1366Tyr) c.3242C>T c.6307C>T (p.His2103Tyr) c.6262C>T (p.His2088Tyr) c.447-66547C>T c.3636C>T n.168C>T c.6334C>T (p.His2112Tyr) n.1382C>T n.3819C>T c.6292C>T (p.His2098Tyr) c.6265C>T (p.His2089Tyr) c.6217C>T (p.His2073Tyr) c.6268C>T (p.His2090Tyr) c.6337C>T (p.His2113Tyr) c.6304C>T (p.His2102Tyr) c.6301C>T (p.His2101Tyr) c.6226C>T (p.His2076Tyr) | gnomAD v4 |
| 3 | g.4779593A>C | CA351638325 | ITPR1 | c.6346A>C (n.6346A>C) c.6311A>C (p.His2104Pro) c.6290A>C (p.His2097Pro) c.6191A>C (p.His2064Pro) c.6146A>C (p.His2049Pro) c.997-26510A>C (n.997-26510A>C) c.2234A>C n.3839A>C c.2670A>C c.4097A>C (p.His1366Pro) c.3243A>C c.6308A>C (p.His2103Pro) c.6263A>C (p.His2088Pro) c.447-66546A>C c.3637A>C n.169A>C c.6335A>C (p.His2112Pro) n.1383A>C n.3820A>C c.6293A>C (p.His2098Pro) c.6266A>C (p.His2089Pro) c.6218A>C (p.His2073Pro) c.6269A>C (p.His2090Pro) c.6338A>C (p.His2113Pro) c.6305A>C (p.His2102Pro) c.6302A>C (p.His2101Pro) c.6227A>C (p.His2076Pro) | |
| 3 | g.4779593A>G | CA351638327 | ITPR1 | c.6346A>G (n.6346A>G) c.6311A>G (p.His2104Arg) c.6290A>G (p.His2097Arg) c.6191A>G (p.His2064Arg) c.6146A>G (p.His2049Arg) c.997-26510A>G (n.997-26510A>G) c.2234A>G n.3839A>G c.2670A>G c.4097A>G (p.His1366Arg) c.3243A>G c.6308A>G (p.His2103Arg) c.6263A>G (p.His2088Arg) c.447-66546A>G c.3637A>G n.169A>G c.6335A>G (p.His2112Arg) n.1383A>G n.3820A>G c.6293A>G (p.His2098Arg) c.6266A>G (p.His2089Arg) c.6218A>G (p.His2073Arg) c.6269A>G (p.His2090Arg) c.6338A>G (p.His2113Arg) c.6305A>G (p.His2102Arg) c.6302A>G (p.His2101Arg) c.6227A>G (p.His2076Arg) | |
| 3 | g.4779593A>T | CA351638326 | ITPR1 | c.6346A>T (n.6346A>T) c.6311A>T (p.His2104Leu) c.6290A>T (p.His2097Leu) c.6191A>T (p.His2064Leu) c.6146A>T (p.His2049Leu) c.997-26510A>T (n.997-26510A>T) c.2234A>T n.3839A>T c.2670A>T c.4097A>T (p.His1366Leu) c.3243A>T c.6308A>T (p.His2103Leu) c.6263A>T (p.His2088Leu) c.447-66546A>T c.3637A>T n.169A>T c.6335A>T (p.His2112Leu) n.1383A>T n.3820A>T c.6293A>T (p.His2098Leu) c.6266A>T (p.His2089Leu) c.6218A>T (p.His2073Leu) c.6269A>T (p.His2090Leu) c.6338A>T (p.His2113Leu) c.6305A>T (p.His2102Leu) c.6302A>T (p.His2101Leu) c.6227A>T (p.His2076Leu) | gnomAD v4 |
| 3 | g.4779594C>A | CA351638328 | ITPR1 | c.6347C>A (n.6347C>A) c.6312C>A (p.His2104Gln) c.6291C>A (p.His2097Gln) c.6192C>A (p.His2064Gln) c.6147C>A (p.His2049Gln) c.997-26509C>A (n.997-26509C>A) c.2235C>A n.3840C>A c.2671C>A c.4098C>A (p.His1366Gln) c.3244C>A c.6309C>A (p.His2103Gln) c.6264C>A (p.His2088Gln) c.447-66545C>A c.3638C>A n.170C>A c.6336C>A (p.His2112Gln) n.1384C>A n.3821C>A c.6294C>A (p.His2098Gln) c.6267C>A (p.His2089Gln) c.6219C>A (p.His2073Gln) c.6270C>A (p.His2090Gln) c.6339C>A (p.His2113Gln) c.6306C>A (p.His2102Gln) c.6303C>A (p.His2101Gln) c.6228C>A (p.His2076Gln) | |
| 3 | g.4779594C= | CA1342333217 | ITPR1 | c.6347C= (n.6347C=) c.6312C= (p.His2104=) c.6291C= (p.His2097=) c.6192C= (p.His2064=) c.6147C= (p.His2049=) c.997-26509C= (n.997-26509C=) c.2235C= n.3840C= c.2671C= c.4098C= (p.His1366=) c.3244C= c.6309C= (p.His2103=) c.6264C= (p.His2088=) c.447-66545C= c.3638C= n.170C= c.6336C= (p.His2112=) n.1384C= n.3821C= c.6294C= (p.His2098=) c.6267C= (p.His2089=) c.6219C= (p.His2073=) c.6270C= (p.His2090=) c.6339C= (p.His2113=) c.6306C= (p.His2102=) c.6303C= (p.His2101=) c.6228C= (p.His2076=) | |
| 3 | g.4779594C>G | CA351638329 | ITPR1 | c.6347C>G (n.6347C>G) c.6312C>G (p.His2104Gln) c.6291C>G (p.His2097Gln) c.6192C>G (p.His2064Gln) c.6147C>G (p.His2049Gln) c.997-26509C>G (n.997-26509C>G) c.2235C>G n.3840C>G c.2671C>G c.4098C>G (p.His1366Gln) c.3244C>G c.6309C>G (p.His2103Gln) c.6264C>G (p.His2088Gln) c.447-66545C>G c.3638C>G n.170C>G c.6336C>G (p.His2112Gln) n.1384C>G n.3821C>G c.6294C>G (p.His2098Gln) c.6267C>G (p.His2089Gln) c.6219C>G (p.His2073Gln) c.6270C>G (p.His2090Gln) c.6339C>G (p.His2113Gln) c.6306C>G (p.His2102Gln) c.6303C>G (p.His2101Gln) c.6228C>G (p.His2076Gln) | |
| 3 | g.4779594C>T | CA2232559 | ITPR1 | c.6347C>T (n.6347C>T) c.6312C>T (p.His2104=) c.6291C>T (p.His2097=) c.6192C>T (p.His2064=) c.6147C>T (p.His2049=) c.997-26509C>T (n.997-26509C>T) c.2235C>T n.3840C>T c.2671C>T c.4098C>T (p.His1366=) c.3244C>T c.6309C>T (p.His2103=) c.6264C>T (p.His2088=) c.447-66545C>T c.3638C>T n.170C>T c.6336C>T (p.His2112=) n.1384C>T n.3821C>T c.6294C>T (p.His2098=) c.6267C>T (p.His2089=) c.6219C>T (p.His2073=) c.6270C>T (p.His2090=) c.6339C>T (p.His2113=) c.6306C>T (p.His2102=) c.6303C>T (p.His2101=) c.6228C>T (p.His2076=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.4779595G>A | CA351638330 | ITPR1 | c.6348G>A (n.6348G>A) c.6313G>A (p.Asp2105Asn) c.6292G>A (p.Asp2098Asn) c.6193G>A (p.Asp2065Asn) c.6148G>A (p.Asp2050Asn) c.997-26508G>A (n.997-26508G>A) c.2236G>A n.3841G>A c.2672G>A c.4099G>A (p.Asp1367Asn) c.3245G>A c.6310G>A (p.Asp2104Asn) c.6265G>A (p.Asp2089Asn) c.447-66544G>A c.3639G>A n.171G>A c.6337G>A (p.Asp2113Asn) n.1385G>A n.3822G>A c.6295G>A (p.Asp2099Asn) c.6268G>A (p.Asp2090Asn) c.6220G>A (p.Asp2074Asn) c.6271G>A (p.Asp2091Asn) c.6340G>A (p.Asp2114Asn) c.6307G>A (p.Asp2103Asn) c.6304G>A (p.Asp2102Asn) c.6229G>A (p.Asp2077Asn) | ClinVar gnomAD v4 |
| 3 | g.4779595G>C | CA351638331 | ITPR1 | c.6348G>C (n.6348G>C) c.6313G>C (p.Asp2105His) c.6292G>C (p.Asp2098His) c.6193G>C (p.Asp2065His) c.6148G>C (p.Asp2050His) c.997-26508G>C (n.997-26508G>C) c.2236G>C n.3841G>C c.2672G>C c.4099G>C (p.Asp1367His) c.3245G>C c.6310G>C (p.Asp2104His) c.6265G>C (p.Asp2089His) c.447-66544G>C c.3639G>C n.171G>C c.6337G>C (p.Asp2113His) n.1385G>C n.3822G>C c.6295G>C (p.Asp2099His) c.6268G>C (p.Asp2090His) c.6220G>C (p.Asp2074His) c.6271G>C (p.Asp2091His) c.6340G>C (p.Asp2114His) c.6307G>C (p.Asp2103His) c.6304G>C (p.Asp2102His) c.6229G>C (p.Asp2077His) | |
| 3 | g.4779595G>T | CA351638332 | ITPR1 | c.6348G>T (n.6348G>T) c.6313G>T (p.Asp2105Tyr) c.6292G>T (p.Asp2098Tyr) c.6193G>T (p.Asp2065Tyr) c.6148G>T (p.Asp2050Tyr) c.997-26508G>T (n.997-26508G>T) c.2236G>T n.3841G>T c.2672G>T c.4099G>T (p.Asp1367Tyr) c.3245G>T c.6310G>T (p.Asp2104Tyr) c.6265G>T (p.Asp2089Tyr) c.447-66544G>T c.3639G>T n.171G>T c.6337G>T (p.Asp2113Tyr) n.1385G>T n.3822G>T c.6295G>T (p.Asp2099Tyr) c.6268G>T (p.Asp2090Tyr) c.6220G>T (p.Asp2074Tyr) c.6271G>T (p.Asp2091Tyr) c.6340G>T (p.Asp2114Tyr) c.6307G>T (p.Asp2103Tyr) c.6304G>T (p.Asp2102Tyr) c.6229G>T (p.Asp2077Tyr) | gnomAD v4 |
| 3 | g.4779596A>C | CA351638333 | ITPR1 | c.6349A>C (n.6349A>C) c.6314A>C (p.Asp2105Ala) c.6293A>C (p.Asp2098Ala) c.6194A>C (p.Asp2065Ala) c.6149A>C (p.Asp2050Ala) c.997-26507A>C (n.997-26507A>C) c.2237A>C n.3842A>C c.2673A>C c.4100A>C (p.Asp1367Ala) c.3246A>C c.6311A>C (p.Asp2104Ala) c.6266A>C (p.Asp2089Ala) c.447-66543A>C c.3640A>C n.172A>C c.6338A>C (p.Asp2113Ala) n.1386A>C n.3823A>C c.6296A>C (p.Asp2099Ala) c.6269A>C (p.Asp2090Ala) c.6221A>C (p.Asp2074Ala) c.6272A>C (p.Asp2091Ala) c.6341A>C (p.Asp2114Ala) c.6308A>C (p.Asp2103Ala) c.6305A>C (p.Asp2102Ala) c.6230A>C (p.Asp2077Ala) | |
| 3 | g.4779596A>G | CA351638334 | ITPR1 | c.6349A>G (n.6349A>G) c.6314A>G (p.Asp2105Gly) c.6293A>G (p.Asp2098Gly) c.6194A>G (p.Asp2065Gly) c.6149A>G (p.Asp2050Gly) c.997-26507A>G (n.997-26507A>G) c.2237A>G n.3842A>G c.2673A>G c.4100A>G (p.Asp1367Gly) c.3246A>G c.6311A>G (p.Asp2104Gly) c.6266A>G (p.Asp2089Gly) c.447-66543A>G c.3640A>G n.172A>G c.6338A>G (p.Asp2113Gly) n.1386A>G n.3823A>G c.6296A>G (p.Asp2099Gly) c.6269A>G (p.Asp2090Gly) c.6221A>G (p.Asp2074Gly) c.6272A>G (p.Asp2091Gly) c.6341A>G (p.Asp2114Gly) c.6308A>G (p.Asp2103Gly) c.6305A>G (p.Asp2102Gly) c.6230A>G (p.Asp2077Gly) | |
| 3 | g.4779596A>T | CA351638335 | ITPR1 | c.6349A>T (n.6349A>T) c.6314A>T (p.Asp2105Val) c.6293A>T (p.Asp2098Val) c.6194A>T (p.Asp2065Val) c.6149A>T (p.Asp2050Val) c.997-26507A>T (n.997-26507A>T) c.2237A>T n.3842A>T c.2673A>T c.4100A>T (p.Asp1367Val) c.3246A>T c.6311A>T (p.Asp2104Val) c.6266A>T (p.Asp2089Val) c.447-66543A>T c.3640A>T n.172A>T c.6338A>T (p.Asp2113Val) n.1386A>T n.3823A>T c.6296A>T (p.Asp2099Val) c.6269A>T (p.Asp2090Val) c.6221A>T (p.Asp2074Val) c.6272A>T (p.Asp2091Val) c.6341A>T (p.Asp2114Val) c.6308A>T (p.Asp2103Val) c.6305A>T (p.Asp2102Val) c.6230A>T (p.Asp2077Val) | |
| 3 | g.4779597C>A | CA351638336 | ITPR1 | c.6350C>A (n.6350C>A) c.6315C>A (p.Asp2105Glu) c.6294C>A (p.Asp2098Glu) c.6195C>A (p.Asp2065Glu) c.6150C>A (p.Asp2050Glu) c.997-26506C>A (n.997-26506C>A) c.2238C>A n.3843C>A c.2674C>A c.4101C>A (p.Asp1367Glu) c.3247C>A c.6312C>A (p.Asp2104Glu) c.6267C>A (p.Asp2089Glu) c.447-66542C>A c.3641C>A n.173C>A c.6339C>A (p.Asp2113Glu) n.1387C>A n.3824C>A c.6297C>A (p.Asp2099Glu) c.6270C>A (p.Asp2090Glu) c.6222C>A (p.Asp2074Glu) c.6273C>A (p.Asp2091Glu) c.6342C>A (p.Asp2114Glu) c.6309C>A (p.Asp2103Glu) c.6306C>A (p.Asp2102Glu) c.6231C>A (p.Asp2077Glu) | |
| 3 | g.4779597C>G | CA351638337 | ITPR1 | c.6350C>G (n.6350C>G) c.6315C>G (p.Asp2105Glu) c.6294C>G (p.Asp2098Glu) c.6195C>G (p.Asp2065Glu) c.6150C>G (p.Asp2050Glu) c.997-26506C>G (n.997-26506C>G) c.2238C>G n.3843C>G c.2674C>G c.4101C>G (p.Asp1367Glu) c.3247C>G c.6312C>G (p.Asp2104Glu) c.6267C>G (p.Asp2089Glu) c.447-66542C>G c.3641C>G n.173C>G c.6339C>G (p.Asp2113Glu) n.1387C>G n.3824C>G c.6297C>G (p.Asp2099Glu) c.6270C>G (p.Asp2090Glu) c.6222C>G (p.Asp2074Glu) c.6273C>G (p.Asp2091Glu) c.6342C>G (p.Asp2114Glu) c.6309C>G (p.Asp2103Glu) c.6306C>G (p.Asp2102Glu) c.6231C>G (p.Asp2077Glu) | |
| 3 | g.4779597C>T | CA432318289 | ITPR1 | c.6350C>T (n.6350C>T) c.6315C>T (p.Asp2105=) c.6294C>T (p.Asp2098=) c.6195C>T (p.Asp2065=) c.6150C>T (p.Asp2050=) c.997-26506C>T (n.997-26506C>T) c.2238C>T n.3843C>T c.2674C>T c.4101C>T (p.Asp1367=) c.3247C>T c.6312C>T (p.Asp2104=) c.6267C>T (p.Asp2089=) c.447-66542C>T c.3641C>T n.173C>T c.6339C>T (p.Asp2113=) n.1387C>T n.3824C>T c.6297C>T (p.Asp2099=) c.6270C>T (p.Asp2090=) c.6222C>T (p.Asp2074=) c.6273C>T (p.Asp2091=) c.6342C>T (p.Asp2114=) c.6309C>T (p.Asp2103=) c.6306C>T (p.Asp2102=) c.6231C>T (p.Asp2077=) | |
| 3 | g.4779598A>C | CA351638340 | ITPR1 | c.6351A>C (n.6351A>C) c.6316A>C (p.Ser2106Arg) c.6295A>C (p.Ser2099Arg) c.6196A>C (p.Ser2066Arg) c.6151A>C (p.Ser2051Arg) c.997-26505A>C (n.997-26505A>C) c.2239A>C n.3844A>C c.2675A>C c.4102A>C (p.Ser1368Arg) c.3248A>C c.6313A>C (p.Ser2105Arg) c.6268A>C (p.Ser2090Arg) c.447-66541A>C c.3642A>C n.174A>C c.6340A>C (p.Ser2114Arg) n.1388A>C n.3825A>C c.6298A>C (p.Ser2100Arg) c.6271A>C (p.Ser2091Arg) c.6223A>C (p.Ser2075Arg) c.6274A>C (p.Ser2092Arg) c.6343A>C (p.Ser2115Arg) c.6310A>C (p.Ser2104Arg) c.6307A>C (p.Ser2103Arg) c.6232A>C (p.Ser2078Arg) | |
| 3 | g.4779598A>G | CA351638338 | ITPR1 | c.6351A>G (n.6351A>G) c.6316A>G (p.Ser2106Gly) c.6295A>G (p.Ser2099Gly) c.6196A>G (p.Ser2066Gly) c.6151A>G (p.Ser2051Gly) c.997-26505A>G (n.997-26505A>G) c.2239A>G n.3844A>G c.2675A>G c.4102A>G (p.Ser1368Gly) c.3248A>G c.6313A>G (p.Ser2105Gly) c.6268A>G (p.Ser2090Gly) c.447-66541A>G c.3642A>G n.174A>G c.6340A>G (p.Ser2114Gly) n.1388A>G n.3825A>G c.6298A>G (p.Ser2100Gly) c.6271A>G (p.Ser2091Gly) c.6223A>G (p.Ser2075Gly) c.6274A>G (p.Ser2092Gly) c.6343A>G (p.Ser2115Gly) c.6310A>G (p.Ser2104Gly) c.6307A>G (p.Ser2103Gly) c.6232A>G (p.Ser2078Gly) | |
| 3 | g.4779598A>T | CA351638339 | ITPR1 | c.6351A>T (n.6351A>T) c.6316A>T (p.Ser2106Cys) c.6295A>T (p.Ser2099Cys) c.6196A>T (p.Ser2066Cys) c.6151A>T (p.Ser2051Cys) c.997-26505A>T (n.997-26505A>T) c.2239A>T n.3844A>T c.2675A>T c.4102A>T (p.Ser1368Cys) c.3248A>T c.6313A>T (p.Ser2105Cys) c.6268A>T (p.Ser2090Cys) c.447-66541A>T c.3642A>T n.174A>T c.6340A>T (p.Ser2114Cys) n.1388A>T n.3825A>T c.6298A>T (p.Ser2100Cys) c.6271A>T (p.Ser2091Cys) c.6223A>T (p.Ser2075Cys) c.6274A>T (p.Ser2092Cys) c.6343A>T (p.Ser2115Cys) c.6310A>T (p.Ser2104Cys) c.6307A>T (p.Ser2103Cys) c.6232A>T (p.Ser2078Cys) | |
| 3 | g.4779599G>A | CA351638341 | ITPR1 | c.6352G>A (n.6352G>A) c.6317G>A (p.Ser2106Asn) c.6296G>A (p.Ser2099Asn) c.6197G>A (p.Ser2066Asn) c.6152G>A (p.Ser2051Asn) c.997-26504G>A (n.997-26504G>A) c.2240G>A n.3845G>A c.2676G>A c.4103G>A (p.Ser1368Asn) c.3249G>A c.6314G>A (p.Ser2105Asn) c.6269G>A (p.Ser2090Asn) c.447-66540G>A c.3643G>A n.175G>A c.6341G>A (p.Ser2114Asn) n.1389G>A n.3826G>A c.6299G>A (p.Ser2100Asn) c.6272G>A (p.Ser2091Asn) c.6224G>A (p.Ser2075Asn) c.6275G>A (p.Ser2092Asn) c.6344G>A (p.Ser2115Asn) c.6311G>A (p.Ser2104Asn) c.6308G>A (p.Ser2103Asn) c.6233G>A (p.Ser2078Asn) | |
| 3 | g.4779599G>C | CA351638342 | ITPR1 | c.6352G>C (n.6352G>C) c.6317G>C (p.Ser2106Thr) c.6296G>C (p.Ser2099Thr) c.6197G>C (p.Ser2066Thr) c.6152G>C (p.Ser2051Thr) c.997-26504G>C (n.997-26504G>C) c.2240G>C n.3845G>C c.2676G>C c.4103G>C (p.Ser1368Thr) c.3249G>C c.6314G>C (p.Ser2105Thr) c.6269G>C (p.Ser2090Thr) c.447-66540G>C c.3643G>C n.175G>C c.6341G>C (p.Ser2114Thr) n.1389G>C n.3826G>C c.6299G>C (p.Ser2100Thr) c.6272G>C (p.Ser2091Thr) c.6224G>C (p.Ser2075Thr) c.6275G>C (p.Ser2092Thr) c.6344G>C (p.Ser2115Thr) c.6311G>C (p.Ser2104Thr) c.6308G>C (p.Ser2103Thr) c.6233G>C (p.Ser2078Thr) |