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 |
|---|---|---|---|---|---|
| 5 | g.37060975T>A | CA359518993 | NIPBL | c.7817T>A (p.Ile2606Asn) c.7670T>A (p.Ile2557Asn) c.263+1810T>A (n.263+1810T>A) n.1699T>A c.1-3603T>A (n.1-3603T>A) c.7073T>A (p.Ile2358Asn) c.7619T>A (p.Ile2540Asn) c.7436T>A (p.Ile2479Asn) c.7157T>A (p.Ile2386Asn) c.6200T>A (p.Ile2067Asn) c.6191T>A (p.Ile2064Asn) | |
| 5 | g.37060975T>C | CA359518998 | NIPBL | c.7817T>C (p.Ile2606Thr) c.7670T>C (p.Ile2557Thr) c.263+1810T>C (n.263+1810T>C) n.1699T>C c.1-3603T>C (n.1-3603T>C) c.7073T>C (p.Ile2358Thr) c.7619T>C (p.Ile2540Thr) c.7436T>C (p.Ile2479Thr) c.7157T>C (p.Ile2386Thr) c.6200T>C (p.Ile2067Thr) c.6191T>C (p.Ile2064Thr) | |
| 5 | g.37060975T>G | CA359518996 | NIPBL | c.7817T>G (p.Ile2606Ser) c.7670T>G (p.Ile2557Ser) c.263+1810T>G (n.263+1810T>G) n.1699T>G c.1-3603T>G (n.1-3603T>G) c.7073T>G (p.Ile2358Ser) c.7619T>G (p.Ile2540Ser) c.7436T>G (p.Ile2479Ser) c.7157T>G (p.Ile2386Ser) c.6200T>G (p.Ile2067Ser) c.6191T>G (p.Ile2064Ser) | |
| 5 | g.37060976C>A | CA443916343 | NIPBL | c.7818C>A (p.Ile2606=) c.7671C>A (p.Ile2557=) c.263+1811C>A (n.263+1811C>A) n.1700C>A c.1-3602C>A (n.1-3602C>A) c.7074C>A (p.Ile2358=) c.7620C>A (p.Ile2540=) c.7437C>A (p.Ile2479=) c.7158C>A (p.Ile2386=) c.6201C>A (p.Ile2067=) c.6192C>A (p.Ile2064=) | |
| 5 | g.37060976C>G | CA359519004 | NIPBL | c.7818C>G (p.Ile2606Met) c.7671C>G (p.Ile2557Met) c.263+1811C>G (n.263+1811C>G) n.1700C>G c.1-3602C>G (n.1-3602C>G) c.7074C>G (p.Ile2358Met) c.7620C>G (p.Ile2540Met) c.7437C>G (p.Ile2479Met) c.7158C>G (p.Ile2386Met) c.6201C>G (p.Ile2067Met) c.6192C>G (p.Ile2064Met) | |
| 5 | g.37060976C>T | CA443916344 | NIPBL | c.7818C>T (p.Ile2606=) c.7671C>T (p.Ile2557=) c.263+1811C>T (n.263+1811C>T) n.1700C>T c.1-3602C>T (n.1-3602C>T) c.7074C>T (p.Ile2358=) c.7620C>T (p.Ile2540=) c.7437C>T (p.Ile2479=) c.7158C>T (p.Ile2386=) c.6201C>T (p.Ile2067=) c.6192C>T (p.Ile2064=) | |
| 5 | g.37060977A>C | CA359519008 | NIPBL | c.7819A>C (p.Thr2607Pro) c.7672A>C (p.Thr2558Pro) c.263+1812A>C (n.263+1812A>C) n.1701A>C c.1-3601A>C (n.1-3601A>C) c.7075A>C (p.Thr2359Pro) c.7621A>C (p.Thr2541Pro) c.7438A>C (p.Thr2480Pro) c.7159A>C (p.Thr2387Pro) c.6202A>C (p.Thr2068Pro) c.6193A>C (p.Thr2065Pro) | |
| 5 | g.37060977A>G | CA359519023 | NIPBL | c.7819A>G (p.Thr2607Ala) c.7672A>G (p.Thr2558Ala) c.263+1812A>G (n.263+1812A>G) n.1701A>G c.1-3601A>G (n.1-3601A>G) c.7075A>G (p.Thr2359Ala) c.7621A>G (p.Thr2541Ala) c.7438A>G (p.Thr2480Ala) c.7159A>G (p.Thr2387Ala) c.6202A>G (p.Thr2068Ala) c.6193A>G (p.Thr2065Ala) | |
| 5 | g.37060977A>T | CA359519025 | NIPBL | c.7819A>T (p.Thr2607Ser) c.7672A>T (p.Thr2558Ser) c.263+1812A>T (n.263+1812A>T) n.1701A>T c.1-3601A>T (n.1-3601A>T) c.7075A>T (p.Thr2359Ser) c.7621A>T (p.Thr2541Ser) c.7438A>T (p.Thr2480Ser) c.7159A>T (p.Thr2387Ser) c.6202A>T (p.Thr2068Ser) c.6193A>T (p.Thr2065Ser) | |
| 5 | g.37060977dup | CA2695204363 | NIPBL | c.7819dup (p.Thr2607AsnfsTer25) c.7672dup (p.Thr2558AsnfsTer25) c.263+1812dup (n.263+1812dup) n.1701dup c.1-3601dup (n.1-3601dup) c.7075dup (p.Thr2359AsnfsTer25) c.7621dup (p.Thr2541AsnfsTer25) c.7438dup (p.Thr2480AsnfsTer25) c.7159dup (p.Thr2387AsnfsTer25) c.6202dup (p.Thr2068AsnfsTer25) c.6193dup (p.Thr2065AsnfsTer25) | |
| 5 | g.37060978C>A | CA359519030 | NIPBL | c.7820C>A (p.Thr2607Lys) c.7673C>A (p.Thr2558Lys) c.263+1813C>A (n.263+1813C>A) n.1702C>A c.1-3600C>A (n.1-3600C>A) c.7076C>A (p.Thr2359Lys) c.7622C>A (p.Thr2541Lys) c.7439C>A (p.Thr2480Lys) c.7160C>A (p.Thr2387Lys) c.6203C>A (p.Thr2068Lys) c.6194C>A (p.Thr2065Lys) | |
| 5 | g.37060978C>G | CA359519035 | NIPBL | c.7820C>G (p.Thr2607Arg) c.7673C>G (p.Thr2558Arg) c.263+1813C>G (n.263+1813C>G) n.1702C>G c.1-3600C>G (n.1-3600C>G) c.7076C>G (p.Thr2359Arg) c.7622C>G (p.Thr2541Arg) c.7439C>G (p.Thr2480Arg) c.7160C>G (p.Thr2387Arg) c.6203C>G (p.Thr2068Arg) c.6194C>G (p.Thr2065Arg) | |
| 5 | g.37060978C>T | CA359519040 | NIPBL | c.7820C>T (p.Thr2607Ile) c.7673C>T (p.Thr2558Ile) c.263+1813C>T (n.263+1813C>T) n.1702C>T c.1-3600C>T (n.1-3600C>T) c.7076C>T (p.Thr2359Ile) c.7622C>T (p.Thr2541Ile) c.7439C>T (p.Thr2480Ile) c.7160C>T (p.Thr2387Ile) c.6203C>T (p.Thr2068Ile) c.6194C>T (p.Thr2065Ile) | |
| 5 | g.37060979A>C | CA443916345 | NIPBL | c.7821A>C (p.Thr2607=) c.7674A>C (p.Thr2558=) c.263+1814A>C (n.263+1814A>C) n.1703A>C c.1-3599A>C (n.1-3599A>C) c.7077A>C (p.Thr2359=) c.7623A>C (p.Thr2541=) c.7440A>C (p.Thr2480=) c.7161A>C (p.Thr2387=) c.6204A>C (p.Thr2068=) c.6195A>C (p.Thr2065=) | |
| 5 | g.37060979A>G | CA443916346 | NIPBL | c.7821A>G (p.Thr2607=) c.7674A>G (p.Thr2558=) c.263+1814A>G (n.263+1814A>G) n.1703A>G c.1-3599A>G (n.1-3599A>G) c.7077A>G (p.Thr2359=) c.7623A>G (p.Thr2541=) c.7440A>G (p.Thr2480=) c.7161A>G (p.Thr2387=) c.6204A>G (p.Thr2068=) c.6195A>G (p.Thr2065=) | |
| 5 | g.37060979A>T | CA443916347 | NIPBL | c.7821A>T (p.Thr2607=) c.7674A>T (p.Thr2558=) c.263+1814A>T (n.263+1814A>T) n.1703A>T c.1-3599A>T (n.1-3599A>T) c.7077A>T (p.Thr2359=) c.7623A>T (p.Thr2541=) c.7440A>T (p.Thr2480=) c.7161A>T (p.Thr2387=) c.6204A>T (p.Thr2068=) c.6195A>T (p.Thr2065=) | |
| 5 | g.37060980G>A | CA3237274 | NIPBL | c.7822G>A (p.Glu2608Lys) c.7675G>A (p.Glu2559Lys) c.263+1815G>A (n.263+1815G>A) n.1704G>A c.1-3598G>A (n.1-3598G>A) c.7078G>A (p.Glu2360Lys) c.7624G>A (p.Glu2542Lys) c.7441G>A (p.Glu2481Lys) c.7162G>A (p.Glu2388Lys) c.6205G>A (p.Glu2069Lys) c.6196G>A (p.Glu2066Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37060980G>C | CA359519048 | NIPBL | c.7822G>C (p.Glu2608Gln) c.7675G>C (p.Glu2559Gln) c.263+1815G>C (n.263+1815G>C) n.1704G>C c.1-3598G>C (n.1-3598G>C) c.7078G>C (p.Glu2360Gln) c.7624G>C (p.Glu2542Gln) c.7441G>C (p.Glu2481Gln) c.7162G>C (p.Glu2388Gln) c.6205G>C (p.Glu2069Gln) c.6196G>C (p.Glu2066Gln) | |
| 5 | g.37060980G= | CA1539583129 | NIPBL | c.7822G= (p.Glu2608=) c.7675G= (p.Glu2559=) c.263+1815G= (n.263+1815G=) n.1704G= c.1-3598G= (n.1-3598G=) c.7078G= (p.Glu2360=) c.7624G= (p.Glu2542=) c.7441G= (p.Glu2481=) c.7162G= (p.Glu2388=) c.6205G= (p.Glu2069=) c.6196G= (p.Glu2066=) | |
| 5 | g.37060980G>T | CA359519067 | NIPBL | c.7822G>T (p.Glu2608Ter) c.7675G>T (p.Glu2559Ter) c.263+1815G>T (n.263+1815G>T) n.1704G>T c.1-3598G>T (n.1-3598G>T) c.7078G>T (p.Glu2360Ter) c.7624G>T (p.Glu2542Ter) c.7441G>T (p.Glu2481Ter) c.7162G>T (p.Glu2388Ter) c.6205G>T (p.Glu2069Ter) c.6196G>T (p.Glu2066Ter) | |
| 5 | g.37060981A>C | CA359519069 | NIPBL | c.7823A>C (p.Glu2608Ala) c.7676A>C (p.Glu2559Ala) c.263+1816A>C (n.263+1816A>C) n.1705A>C c.1-3597A>C (n.1-3597A>C) c.7079A>C (p.Glu2360Ala) c.7625A>C (p.Glu2542Ala) c.7442A>C (p.Glu2481Ala) c.7163A>C (p.Glu2388Ala) c.6206A>C (p.Glu2069Ala) c.6197A>C (p.Glu2066Ala) | |
| 5 | g.37060981A>G | CA359519081 | NIPBL | c.7823A>G (p.Glu2608Gly) c.7676A>G (p.Glu2559Gly) c.263+1816A>G (n.263+1816A>G) n.1705A>G c.1-3597A>G (n.1-3597A>G) c.7079A>G (p.Glu2360Gly) c.7625A>G (p.Glu2542Gly) c.7442A>G (p.Glu2481Gly) c.7163A>G (p.Glu2388Gly) c.6206A>G (p.Glu2069Gly) c.6197A>G (p.Glu2066Gly) | |
| 5 | g.37060981A>T | CA359519093 | NIPBL | c.7823A>T (p.Glu2608Val) c.7676A>T (p.Glu2559Val) c.263+1816A>T (n.263+1816A>T) n.1705A>T c.1-3597A>T (n.1-3597A>T) c.7079A>T (p.Glu2360Val) c.7625A>T (p.Glu2542Val) c.7442A>T (p.Glu2481Val) c.7163A>T (p.Glu2388Val) c.6206A>T (p.Glu2069Val) c.6197A>T (p.Glu2066Val) | |
| 5 | g.37060982A>C | CA359519099 | NIPBL | c.7824A>C (p.Glu2608Asp) c.7677A>C (p.Glu2559Asp) c.263+1817A>C (n.263+1817A>C) n.1706A>C c.1-3596A>C (n.1-3596A>C) c.7080A>C (p.Glu2360Asp) c.7626A>C (p.Glu2542Asp) c.7443A>C (p.Glu2481Asp) c.7164A>C (p.Glu2388Asp) c.6207A>C (p.Glu2069Asp) c.6198A>C (p.Glu2066Asp) | |
| 5 | g.37060982A>G | CA443916348 | NIPBL | c.7824A>G (p.Glu2608=) c.7677A>G (p.Glu2559=) c.263+1817A>G (n.263+1817A>G) n.1706A>G c.1-3596A>G (n.1-3596A>G) c.7080A>G (p.Glu2360=) c.7626A>G (p.Glu2542=) c.7443A>G (p.Glu2481=) c.7164A>G (p.Glu2388=) c.6207A>G (p.Glu2069=) c.6198A>G (p.Glu2066=) | gnomAD v4 |
| 5 | g.37060982A>T | CA359519098 | NIPBL | c.7824A>T (p.Glu2608Asp) c.7677A>T (p.Glu2559Asp) c.263+1817A>T (n.263+1817A>T) n.1706A>T c.1-3596A>T (n.1-3596A>T) c.7080A>T (p.Glu2360Asp) c.7626A>T (p.Glu2542Asp) c.7443A>T (p.Glu2481Asp) c.7164A>T (p.Glu2388Asp) c.6207A>T (p.Glu2069Asp) c.6198A>T (p.Glu2066Asp) | |
| 5 | g.37060983G>A | CA359519102 | NIPBL | c.7825G>A (p.Glu2609Lys) c.7678G>A (p.Glu2560Lys) c.263+1818G>A (n.263+1818G>A) n.1707G>A c.1-3595G>A (n.1-3595G>A) c.7081G>A (p.Glu2361Lys) c.7627G>A (p.Glu2543Lys) c.7444G>A (p.Glu2482Lys) c.7165G>A (p.Glu2389Lys) c.6208G>A (p.Glu2070Lys) c.6199G>A (p.Glu2067Lys) | |
| 5 | g.37060983G>C | CA359519109 | NIPBL | c.7825G>C (p.Glu2609Gln) c.7678G>C (p.Glu2560Gln) c.263+1818G>C (n.263+1818G>C) n.1707G>C c.1-3595G>C (n.1-3595G>C) c.7081G>C (p.Glu2361Gln) c.7627G>C (p.Glu2543Gln) c.7444G>C (p.Glu2482Gln) c.7165G>C (p.Glu2389Gln) c.6208G>C (p.Glu2070Gln) c.6199G>C (p.Glu2067Gln) | |
| 5 | g.37060983G>T | CA359519106 | NIPBL | c.7825G>T (p.Glu2609Ter) c.7678G>T (p.Glu2560Ter) c.263+1818G>T (n.263+1818G>T) n.1707G>T c.1-3595G>T (n.1-3595G>T) c.7081G>T (p.Glu2361Ter) c.7627G>T (p.Glu2543Ter) c.7444G>T (p.Glu2482Ter) c.7165G>T (p.Glu2389Ter) c.6208G>T (p.Glu2070Ter) c.6199G>T (p.Glu2067Ter) | ClinVar dbSNP |
| 5 | g.37060983dup | CA2695204364 | NIPBL | c.7825dup (p.Glu2609GlyfsTer23) c.7678dup (p.Glu2560GlyfsTer23) c.263+1818dup (n.263+1818dup) n.1707dup c.1-3595dup (n.1-3595dup) c.7081dup (p.Glu2361GlyfsTer23) c.7627dup (p.Glu2543GlyfsTer23) c.7444dup (p.Glu2482GlyfsTer23) c.7165dup (p.Glu2389GlyfsTer23) c.6208dup (p.Glu2070GlyfsTer23) c.6199dup (p.Glu2067GlyfsTer23) | |
| 5 | g.37060984A>C | CA359519114 | NIPBL | c.7826A>C (p.Glu2609Ala) c.7679A>C (p.Glu2560Ala) c.263+1819A>C (n.263+1819A>C) n.1708A>C c.1-3594A>C (n.1-3594A>C) c.7082A>C (p.Glu2361Ala) c.7628A>C (p.Glu2543Ala) c.7445A>C (p.Glu2482Ala) c.7166A>C (p.Glu2389Ala) c.6209A>C (p.Glu2070Ala) c.6200A>C (p.Glu2067Ala) | |
| 5 | g.37060984A>G | CA359519120 | NIPBL | c.7826A>G (p.Glu2609Gly) c.7679A>G (p.Glu2560Gly) c.263+1819A>G (n.263+1819A>G) n.1708A>G c.1-3594A>G (n.1-3594A>G) c.7082A>G (p.Glu2361Gly) c.7628A>G (p.Glu2543Gly) c.7445A>G (p.Glu2482Gly) c.7166A>G (p.Glu2389Gly) c.6209A>G (p.Glu2070Gly) c.6200A>G (p.Glu2067Gly) | |
| 5 | g.37060984A>T | CA359519119 | NIPBL | c.7826A>T (p.Glu2609Val) c.7679A>T (p.Glu2560Val) c.263+1819A>T (n.263+1819A>T) n.1708A>T c.1-3594A>T (n.1-3594A>T) c.7082A>T (p.Glu2361Val) c.7628A>T (p.Glu2543Val) c.7445A>T (p.Glu2482Val) c.7166A>T (p.Glu2389Val) c.6209A>T (p.Glu2070Val) c.6200A>T (p.Glu2067Val) | |
| 5 | g.37060985G>A | CA3237275 | NIPBL | c.7827G>A (p.Glu2609=) c.7680G>A (p.Glu2560=) c.263+1820G>A (n.263+1820G>A) n.1709G>A c.1-3593G>A (n.1-3593G>A) c.7083G>A (p.Glu2361=) c.7629G>A (p.Glu2543=) c.7446G>A (p.Glu2482=) c.7167G>A (p.Glu2389=) c.6210G>A (p.Glu2070=) c.6201G>A (p.Glu2067=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37060985G>C | CA359519126 | NIPBL | c.7827G>C (p.Glu2609Asp) c.7680G>C (p.Glu2560Asp) c.263+1820G>C (n.263+1820G>C) n.1709G>C c.1-3593G>C (n.1-3593G>C) c.7083G>C (p.Glu2361Asp) c.7629G>C (p.Glu2543Asp) c.7446G>C (p.Glu2482Asp) c.7167G>C (p.Glu2389Asp) c.6210G>C (p.Glu2070Asp) c.6201G>C (p.Glu2067Asp) | dbSNP |
| 5 | g.37060985G= | CA1539583133 | NIPBL | c.7827G= (p.Glu2609=) c.7680G= (p.Glu2560=) c.263+1820G= (n.263+1820G=) n.1709G= c.1-3593G= (n.1-3593G=) c.7083G= (p.Glu2361=) c.7629G= (p.Glu2543=) c.7446G= (p.Glu2482=) c.7167G= (p.Glu2389=) c.6210G= (p.Glu2070=) c.6201G= (p.Glu2067=) | |
| 5 | g.37060985G>T | CA359519130 | NIPBL | c.7827G>T (p.Glu2609Asp) c.7680G>T (p.Glu2560Asp) c.263+1820G>T (n.263+1820G>T) n.1709G>T c.1-3593G>T (n.1-3593G>T) c.7083G>T (p.Glu2361Asp) c.7629G>T (p.Glu2543Asp) c.7446G>T (p.Glu2482Asp) c.7167G>T (p.Glu2389Asp) c.6210G>T (p.Glu2070Asp) c.6201G>T (p.Glu2067Asp) | |
| 5 | g.37060986G>A | CA359519135 | NIPBL | c.7828G>A (p.Val2610Met) c.7681G>A (p.Val2561Met) c.263+1821G>A (n.263+1821G>A) n.1710G>A c.1-3592G>A (n.1-3592G>A) c.7084G>A (p.Val2362Met) c.7630G>A (p.Val2544Met) c.7447G>A (p.Val2483Met) c.7168G>A (p.Val2390Met) c.6211G>A (p.Val2071Met) c.6202G>A (p.Val2068Met) | |
| 5 | g.37060986G>C | CA359519138 | NIPBL | c.7828G>C (p.Val2610Leu) c.7681G>C (p.Val2561Leu) c.263+1821G>C (n.263+1821G>C) n.1710G>C c.1-3592G>C (n.1-3592G>C) c.7084G>C (p.Val2362Leu) c.7630G>C (p.Val2544Leu) c.7447G>C (p.Val2483Leu) c.7168G>C (p.Val2390Leu) c.6211G>C (p.Val2071Leu) c.6202G>C (p.Val2068Leu) | |
| 5 | g.37060986G>T | CA359519141 | NIPBL | c.7828G>T (p.Val2610Leu) c.7681G>T (p.Val2561Leu) c.263+1821G>T (n.263+1821G>T) n.1710G>T c.1-3592G>T (n.1-3592G>T) c.7084G>T (p.Val2362Leu) c.7630G>T (p.Val2544Leu) c.7447G>T (p.Val2483Leu) c.7168G>T (p.Val2390Leu) c.6211G>T (p.Val2071Leu) c.6202G>T (p.Val2068Leu) | |
| 5 | g.37060987T>A | CA359519145 | NIPBL | c.7829T>A (p.Val2610Glu) c.7682T>A (p.Val2561Glu) c.263+1822T>A (n.263+1822T>A) n.1711T>A c.1-3591T>A (n.1-3591T>A) c.7085T>A (p.Val2362Glu) c.7631T>A (p.Val2544Glu) c.7448T>A (p.Val2483Glu) c.7169T>A (p.Val2390Glu) c.6212T>A (p.Val2071Glu) c.6203T>A (p.Val2068Glu) | |
| 5 | g.37060987T>C | CA359519148 | NIPBL | c.7829T>C (p.Val2610Ala) c.7682T>C (p.Val2561Ala) c.263+1822T>C (n.263+1822T>C) n.1711T>C c.1-3591T>C (n.1-3591T>C) c.7085T>C (p.Val2362Ala) c.7631T>C (p.Val2544Ala) c.7448T>C (p.Val2483Ala) c.7169T>C (p.Val2390Ala) c.6212T>C (p.Val2071Ala) c.6203T>C (p.Val2068Ala) | |
| 5 | g.37060987T>G | CA359519151 | NIPBL | c.7829T>G (p.Val2610Gly) c.7682T>G (p.Val2561Gly) c.263+1822T>G (n.263+1822T>G) n.1711T>G c.1-3591T>G (n.1-3591T>G) c.7085T>G (p.Val2362Gly) c.7631T>G (p.Val2544Gly) c.7448T>G (p.Val2483Gly) c.7169T>G (p.Val2390Gly) c.6212T>G (p.Val2071Gly) c.6203T>G (p.Val2068Gly) | |
| 5 | g.37060988G>A | CA443916349 | NIPBL | c.7830G>A (p.Val2610=) c.7683G>A (p.Val2561=) c.263+1823G>A (n.263+1823G>A) n.1712G>A c.1-3590G>A (n.1-3590G>A) c.7086G>A (p.Val2362=) c.7632G>A (p.Val2544=) c.7449G>A (p.Val2483=) c.7170G>A (p.Val2390=) c.6213G>A (p.Val2071=) c.6204G>A (p.Val2068=) | |
| 5 | g.37060988G>C | CA172758 | NIPBL | c.7830G>C (p.Val2610=) c.7683G>C (p.Val2561=) c.263+1823G>C (n.263+1823G>C) n.1712G>C c.1-3590G>C (n.1-3590G>C) c.7086G>C (p.Val2362=) c.7632G>C (p.Val2544=) c.7449G>C (p.Val2483=) c.7170G>C (p.Val2390=) c.6213G>C (p.Val2071=) c.6204G>C (p.Val2068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37060988G= | CA1539583136 | NIPBL | c.7830G= (p.Val2610=) c.7683G= (p.Val2561=) c.263+1823G= (n.263+1823G=) n.1712G= c.1-3590G= (n.1-3590G=) c.7086G= (p.Val2362=) c.7632G= (p.Val2544=) c.7449G= (p.Val2483=) c.7170G= (p.Val2390=) c.6213G= (p.Val2071=) c.6204G= (p.Val2068=) | |
| 5 | g.37060988G>T | CA443916350 | NIPBL | c.7830G>T (p.Val2610=) c.7683G>T (p.Val2561=) c.263+1823G>T (n.263+1823G>T) n.1712G>T c.1-3590G>T (n.1-3590G>T) c.7086G>T (p.Val2362=) c.7632G>T (p.Val2544=) c.7449G>T (p.Val2483=) c.7170G>T (p.Val2390=) c.6213G>T (p.Val2071=) c.6204G>T (p.Val2068=) | |
| 5 | g.37060989A>C | CA359519157 | NIPBL | c.7831A>C (p.Lys2611Gln) c.7684A>C (p.Lys2562Gln) c.263+1824A>C (n.263+1824A>C) n.1713A>C c.1-3589A>C (n.1-3589A>C) c.7087A>C (p.Lys2363Gln) c.7633A>C (p.Lys2545Gln) c.7450A>C (p.Lys2484Gln) c.7171A>C (p.Lys2391Gln) c.6214A>C (p.Lys2072Gln) c.6205A>C (p.Lys2069Gln) | |
| 5 | g.37060989A>G | CA359519156 | NIPBL | c.7831A>G (p.Lys2611Glu) c.7684A>G (p.Lys2562Glu) c.263+1824A>G (n.263+1824A>G) n.1713A>G c.1-3589A>G (n.1-3589A>G) c.7087A>G (p.Lys2363Glu) c.7633A>G (p.Lys2545Glu) c.7450A>G (p.Lys2484Glu) c.7171A>G (p.Lys2391Glu) c.6214A>G (p.Lys2072Glu) c.6205A>G (p.Lys2069Glu) | |
| 5 | g.37060989A>T | CA359519155 | NIPBL | c.7831A>T (p.Lys2611Ter) c.7684A>T (p.Lys2562Ter) c.263+1824A>T (n.263+1824A>T) n.1713A>T c.1-3589A>T (n.1-3589A>T) c.7087A>T (p.Lys2363Ter) c.7633A>T (p.Lys2545Ter) c.7450A>T (p.Lys2484Ter) c.7171A>T (p.Lys2391Ter) c.6214A>T (p.Lys2072Ter) c.6205A>T (p.Lys2069Ter) |