Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37038694_37038699del | CA2695204437 | NIPBL | c.6064_6069del (p.Lys2022_His2023del) c.1-25884_1-25879del (n.1-25884_1-25879del) c.5320_5325del (p.Lys1774_His1775del) c.5866_5871del (p.Lys1956_His1957del) c.5683_5688del (p.Lys1895_His1896del) c.5404_5409del (p.Lys1802_His1803del) c.4447_4452del (p.Lys1483_His1484del) c.4438_4443del (p.Lys1480_His1481del) | |
5 | g.37038699T>A | CA359498598 | NIPBL | c.6069T>A (p.His2023Gln) c.1-25879T>A (n.1-25879T>A) c.5325T>A (p.His1775Gln) c.5871T>A (p.His1957Gln) c.5688T>A (p.His1896Gln) c.5409T>A (p.His1803Gln) c.4452T>A (p.His1484Gln) c.4443T>A (p.His1481Gln) | |
5 | g.37038699T>C | CA443905836 | NIPBL | c.6069T>C (p.His2023=) c.1-25879T>C (n.1-25879T>C) c.5325T>C (p.His1775=) c.5871T>C (p.His1957=) c.5688T>C (p.His1896=) c.5409T>C (p.His1803=) c.4452T>C (p.His1484=) c.4443T>C (p.His1481=) | ClinVar dbSNP |
5 | g.37038699T>G | CA359498597 | NIPBL | c.6069T>G (p.His2023Gln) c.1-25879T>G (n.1-25879T>G) c.5325T>G (p.His1775Gln) c.5871T>G (p.His1957Gln) c.5688T>G (p.His1896Gln) c.5409T>G (p.His1803Gln) c.4452T>G (p.His1484Gln) c.4443T>G (p.His1481Gln) | |
5 | g.37038699T= | CA1539611523 | NIPBL | c.6069T= (p.His2023=) c.1-25879T= (n.1-25879T=) c.5325T= (p.His1775=) c.5871T= (p.His1957=) c.5688T= (p.His1896=) c.5409T= (p.His1803=) c.4452T= (p.His1484=) c.4443T= (p.His1481=) | |
5 | g.37038700G>A | CA359498599 | NIPBL | c.6070G>A (p.Ala2024Thr) c.1-25878G>A (n.1-25878G>A) c.5326G>A (p.Ala1776Thr) c.5872G>A (p.Ala1958Thr) c.5689G>A (p.Ala1897Thr) c.5410G>A (p.Ala1804Thr) c.4453G>A (p.Ala1485Thr) c.4444G>A (p.Ala1482Thr) | |
5 | g.37038700G>C | CA16618203 | NIPBL | c.6070G>C (p.Ala2024Pro) c.1-25878G>C (n.1-25878G>C) c.5326G>C (p.Ala1776Pro) c.5872G>C (p.Ala1958Pro) c.5689G>C (p.Ala1897Pro) c.5410G>C (p.Ala1804Pro) c.4453G>C (p.Ala1485Pro) c.4444G>C (p.Ala1482Pro) | ClinVar dbSNP |
5 | g.37038700G= | CA1539611529 | NIPBL | c.6070G= (p.Ala2024=) c.1-25878G= (n.1-25878G=) c.5326G= (p.Ala1776=) c.5872G= (p.Ala1958=) c.5689G= (p.Ala1897=) c.5410G= (p.Ala1804=) c.4453G= (p.Ala1485=) c.4444G= (p.Ala1482=) | |
5 | g.37038700G>T | CA359498603 | NIPBL | c.6070G>T (p.Ala2024Ser) c.1-25878G>T (n.1-25878G>T) c.5326G>T (p.Ala1776Ser) c.5872G>T (p.Ala1958Ser) c.5689G>T (p.Ala1897Ser) c.5410G>T (p.Ala1804Ser) c.4453G>T (p.Ala1485Ser) c.4444G>T (p.Ala1482Ser) | |
5 | g.37038701C>A | CA272192 | NIPBL | c.6071C>A (p.Ala2024Glu) c.1-25877C>A (n.1-25877C>A) c.5327C>A (p.Ala1776Glu) c.5873C>A (p.Ala1958Glu) c.5690C>A (p.Ala1897Glu) c.5411C>A (p.Ala1804Glu) c.4454C>A (p.Ala1485Glu) c.4445C>A (p.Ala1482Glu) | ClinVar dbSNP |
5 | g.37038701C= | CA1539611540 | NIPBL | c.6071C= (p.Ala2024=) c.1-25877C= (n.1-25877C=) c.5327C= (p.Ala1776=) c.5873C= (p.Ala1958=) c.5690C= (p.Ala1897=) c.5411C= (p.Ala1804=) c.4454C= (p.Ala1485=) c.4445C= (p.Ala1482=) | |
5 | g.37038701C>G | CA359498608 | NIPBL | c.6071C>G (p.Ala2024Gly) c.1-25877C>G (n.1-25877C>G) c.5327C>G (p.Ala1776Gly) c.5873C>G (p.Ala1958Gly) c.5690C>G (p.Ala1897Gly) c.5411C>G (p.Ala1804Gly) c.4454C>G (p.Ala1485Gly) c.4445C>G (p.Ala1482Gly) | |
5 | g.37038701C>T | CA3236918 | NIPBL | c.6071C>T (p.Ala2024Val) c.1-25877C>T (n.1-25877C>T) c.5327C>T (p.Ala1776Val) c.5873C>T (p.Ala1958Val) c.5690C>T (p.Ala1897Val) c.5411C>T (p.Ala1804Val) c.4454C>T (p.Ala1485Val) c.4445C>T (p.Ala1482Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37038702A= | CA1539611543 | NIPBL | c.6072A= (p.Ala2024=) c.1-25876A= (n.1-25876A=) c.5328A= (p.Ala1776=) c.5874A= (p.Ala1958=) c.5691A= (p.Ala1897=) c.5412A= (p.Ala1804=) c.4455A= (p.Ala1485=) c.4446A= (p.Ala1482=) | |
5 | g.37038702A>C | CA443905837 | NIPBL | c.6072A>C (p.Ala2024=) c.1-25876A>C (n.1-25876A>C) c.5328A>C (p.Ala1776=) c.5874A>C (p.Ala1958=) c.5691A>C (p.Ala1897=) c.5412A>C (p.Ala1804=) c.4455A>C (p.Ala1485=) c.4446A>C (p.Ala1482=) | gnomAD v4 |
5 | g.37038702A>G | CA3236919 | NIPBL | c.6072A>G (p.Ala2024=) c.1-25876A>G (n.1-25876A>G) c.5328A>G (p.Ala1776=) c.5874A>G (p.Ala1958=) c.5691A>G (p.Ala1897=) c.5412A>G (p.Ala1804=) c.4455A>G (p.Ala1485=) c.4446A>G (p.Ala1482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37038702A>T | CA443905839 | NIPBL | c.6072A>T (p.Ala2024=) c.1-25876A>T (n.1-25876A>T) c.5328A>T (p.Ala1776=) c.5874A>T (p.Ala1958=) c.5691A>T (p.Ala1897=) c.5412A>T (p.Ala1804=) c.4455A>T (p.Ala1485=) c.4446A>T (p.Ala1482=) | |
5 | g.37038703A= | CA1539611546 | NIPBL | c.6073A= (p.Met2025=) c.1-25875A= (n.1-25875A=) c.5329A= (p.Met1777=) c.5875A= (p.Met1959=) c.5692A= (p.Met1898=) c.5413A= (p.Met1805=) c.4456A= (p.Met1486=) c.4447A= (p.Met1483=) | |
5 | g.37038703A>C | CA359498617 | NIPBL | c.6073A>C (p.Met2025Leu) c.1-25875A>C (n.1-25875A>C) c.5329A>C (p.Met1777Leu) c.5875A>C (p.Met1959Leu) c.5692A>C (p.Met1898Leu) c.5413A>C (p.Met1805Leu) c.4456A>C (p.Met1486Leu) c.4447A>C (p.Met1483Leu) | |
5 | g.37038703A>G | CA359498619 | NIPBL | c.6073A>G (p.Met2025Val) c.1-25875A>G (n.1-25875A>G) c.5329A>G (p.Met1777Val) c.5875A>G (p.Met1959Val) c.5692A>G (p.Met1898Val) c.5413A>G (p.Met1805Val) c.4456A>G (p.Met1486Val) c.4447A>G (p.Met1483Val) | dbSNP |
5 | g.37038703A>T | CA359498628 | NIPBL | c.6073A>T (p.Met2025Leu) c.1-25875A>T (n.1-25875A>T) c.5329A>T (p.Met1777Leu) c.5875A>T (p.Met1959Leu) c.5692A>T (p.Met1898Leu) c.5413A>T (p.Met1805Leu) c.4456A>T (p.Met1486Leu) c.4447A>T (p.Met1483Leu) | |
5 | g.37038704T>A | CA359498631 | NIPBL | c.6074T>A (p.Met2025Lys) c.1-25874T>A (n.1-25874T>A) c.5330T>A (p.Met1777Lys) c.5876T>A (p.Met1959Lys) c.5693T>A (p.Met1898Lys) c.5414T>A (p.Met1805Lys) c.4457T>A (p.Met1486Lys) c.4448T>A (p.Met1483Lys) | |
5 | g.37038704T>C | CA359498633 | NIPBL | c.6074T>C (p.Met2025Thr) c.1-25874T>C (n.1-25874T>C) c.5330T>C (p.Met1777Thr) c.5876T>C (p.Met1959Thr) c.5693T>C (p.Met1898Thr) c.5414T>C (p.Met1805Thr) c.4457T>C (p.Met1486Thr) c.4448T>C (p.Met1483Thr) | |
5 | g.37038704T>G | CA359498639 | NIPBL | c.6074T>G (p.Met2025Arg) c.1-25874T>G (n.1-25874T>G) c.5330T>G (p.Met1777Arg) c.5876T>G (p.Met1959Arg) c.5693T>G (p.Met1898Arg) c.5414T>G (p.Met1805Arg) c.4457T>G (p.Met1486Arg) c.4448T>G (p.Met1483Arg) | |
5 | g.37038705G>A | CA359498649 | NIPBL | c.6075G>A (p.Met2025Ile) c.1-25873G>A (n.1-25873G>A) c.5331G>A (p.Met1777Ile) c.5877G>A (p.Met1959Ile) c.5694G>A (p.Met1898Ile) c.5415G>A (p.Met1805Ile) c.4458G>A (p.Met1486Ile) c.4449G>A (p.Met1483Ile) | |
5 | g.37038705G>C | CA359498646 | NIPBL | c.6075G>C (p.Met2025Ile) c.1-25873G>C (n.1-25873G>C) c.5331G>C (p.Met1777Ile) c.5877G>C (p.Met1959Ile) c.5694G>C (p.Met1898Ile) c.5415G>C (p.Met1805Ile) c.4458G>C (p.Met1486Ile) c.4449G>C (p.Met1483Ile) | |
5 | g.37038705G>T | CA359498643 | NIPBL | c.6075G>T (p.Met2025Ile) c.1-25873G>T (n.1-25873G>T) c.5331G>T (p.Met1777Ile) c.5877G>T (p.Met1959Ile) c.5694G>T (p.Met1898Ile) c.5415G>T (p.Met1805Ile) c.4458G>T (p.Met1486Ile) c.4449G>T (p.Met1483Ile) | |
5 | g.37038706A>C | CA359498658 | NIPBL | c.6076A>C (p.Thr2026Pro) c.1-25872A>C (n.1-25872A>C) c.5332A>C (p.Thr1778Pro) c.5878A>C (p.Thr1960Pro) c.5695A>C (p.Thr1899Pro) c.5416A>C (p.Thr1806Pro) c.4459A>C (p.Thr1487Pro) c.4450A>C (p.Thr1484Pro) | |
5 | g.37038706A>G | CA359498660 | NIPBL | c.6076A>G (p.Thr2026Ala) c.1-25872A>G (n.1-25872A>G) c.5332A>G (p.Thr1778Ala) c.5878A>G (p.Thr1960Ala) c.5695A>G (p.Thr1899Ala) c.5416A>G (p.Thr1806Ala) c.4459A>G (p.Thr1487Ala) c.4450A>G (p.Thr1484Ala) | |
5 | g.37038706A>T | CA359498663 | NIPBL | c.6076A>T (p.Thr2026Ser) c.1-25872A>T (n.1-25872A>T) c.5332A>T (p.Thr1778Ser) c.5878A>T (p.Thr1960Ser) c.5695A>T (p.Thr1899Ser) c.5416A>T (p.Thr1806Ser) c.4459A>T (p.Thr1487Ser) c.4450A>T (p.Thr1484Ser) | |
5 | g.37038707C>A | CA359498666 | NIPBL | c.6077C>A (p.Thr2026Asn) c.1-25871C>A (n.1-25871C>A) c.5333C>A (p.Thr1778Asn) c.5879C>A (p.Thr1960Asn) c.5696C>A (p.Thr1899Asn) c.5417C>A (p.Thr1806Asn) c.4460C>A (p.Thr1487Asn) c.4451C>A (p.Thr1484Asn) | |
5 | g.37038707C>G | CA359498670 | NIPBL | c.6077C>G (p.Thr2026Ser) c.1-25871C>G (n.1-25871C>G) c.5333C>G (p.Thr1778Ser) c.5879C>G (p.Thr1960Ser) c.5696C>G (p.Thr1899Ser) c.5417C>G (p.Thr1806Ser) c.4460C>G (p.Thr1487Ser) c.4451C>G (p.Thr1484Ser) | |
5 | g.37038707C>T | CA359498674 | NIPBL | c.6077C>T (p.Thr2026Ile) c.1-25871C>T (n.1-25871C>T) c.5333C>T (p.Thr1778Ile) c.5879C>T (p.Thr1960Ile) c.5696C>T (p.Thr1899Ile) c.5417C>T (p.Thr1806Ile) c.4460C>T (p.Thr1487Ile) c.4451C>T (p.Thr1484Ile) | gnomAD v4 |
5 | g.37038708T>A | CA443905841 | NIPBL | c.6078T>A (p.Thr2026=) c.1-25870T>A (n.1-25870T>A) c.5334T>A (p.Thr1778=) c.5880T>A (p.Thr1960=) c.5697T>A (p.Thr1899=) c.5418T>A (p.Thr1806=) c.4461T>A (p.Thr1487=) c.4452T>A (p.Thr1484=) | |
5 | g.37038708T>C | CA443905842 | NIPBL | c.6078T>C (p.Thr2026=) c.1-25870T>C (n.1-25870T>C) c.5334T>C (p.Thr1778=) c.5880T>C (p.Thr1960=) c.5697T>C (p.Thr1899=) c.5418T>C (p.Thr1806=) c.4461T>C (p.Thr1487=) c.4452T>C (p.Thr1484=) | gnomAD v4 |
5 | g.37038708T>G | CA443905843 | NIPBL | c.6078T>G (p.Thr2026=) c.1-25870T>G (n.1-25870T>G) c.5334T>G (p.Thr1778=) c.5880T>G (p.Thr1960=) c.5697T>G (p.Thr1899=) c.5418T>G (p.Thr1806=) c.4461T>G (p.Thr1487=) c.4452T>G (p.Thr1484=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37038708T= | CA1539611550 | NIPBL | c.6078T= (p.Thr2026=) c.1-25870T= (n.1-25870T=) c.5334T= (p.Thr1778=) c.5880T= (p.Thr1960=) c.5697T= (p.Thr1899=) c.5418T= (p.Thr1806=) c.4461T= (p.Thr1487=) c.4452T= (p.Thr1484=) | |
5 | g.37038709A= | CA1539611555 | NIPBL | c.6079A= (p.Met2027=) c.1-25869A= (n.1-25869A=) c.5335A= (p.Met1779=) c.5881A= (p.Met1961=) c.5698A= (p.Met1900=) c.5419A= (p.Met1807=) c.4462A= (p.Met1488=) c.4453A= (p.Met1485=) | |
5 | g.37038709A>C | CA359498681 | NIPBL | c.6079A>C (p.Met2027Leu) c.1-25869A>C (n.1-25869A>C) c.5335A>C (p.Met1779Leu) c.5881A>C (p.Met1961Leu) c.5698A>C (p.Met1900Leu) c.5419A>C (p.Met1807Leu) c.4462A>C (p.Met1488Leu) c.4453A>C (p.Met1485Leu) | |
5 | g.37038709A>G | CA359498679 | NIPBL | c.6079A>G (p.Met2027Val) c.1-25869A>G (n.1-25869A>G) c.5335A>G (p.Met1779Val) c.5881A>G (p.Met1961Val) c.5698A>G (p.Met1900Val) c.5419A>G (p.Met1807Val) c.4462A>G (p.Met1488Val) c.4453A>G (p.Met1485Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038709A>T | CA359498676 | NIPBL | c.6079A>T (p.Met2027Leu) c.1-25869A>T (n.1-25869A>T) c.5335A>T (p.Met1779Leu) c.5881A>T (p.Met1961Leu) c.5698A>T (p.Met1900Leu) c.5419A>T (p.Met1807Leu) c.4462A>T (p.Met1488Leu) c.4453A>T (p.Met1485Leu) | |
5 | g.37038710_37038713dup | CA2573139686 | NIPBL | c.6080_6083dup (p.Gln2028HisfsTer8) c.1-25868_1-25865dup (n.1-25868_1-25865dup) c.5336_5339dup (p.Gln1780HisfsTer8) c.5882_5885dup (p.Gln1962HisfsTer8) c.5699_5702dup (p.Gln1901HisfsTer8) c.5420_5423dup (p.Gln1808HisfsTer8) c.4463_4466dup (p.Gln1489HisfsTer8) c.4454_4457dup (p.Gln1486HisfsTer8) | ClinVar dbSNP |
5 | g.37038710T>A | CA359498683 | NIPBL | c.6080T>A (p.Met2027Lys) c.1-25868T>A (n.1-25868T>A) c.5336T>A (p.Met1779Lys) c.5882T>A (p.Met1961Lys) c.5699T>A (p.Met1900Lys) c.5420T>A (p.Met1807Lys) c.4463T>A (p.Met1488Lys) c.4454T>A (p.Met1485Lys) | |
5 | g.37038710T>C | CA359498685 | NIPBL | c.6080T>C (p.Met2027Thr) c.1-25868T>C (n.1-25868T>C) c.5336T>C (p.Met1779Thr) c.5882T>C (p.Met1961Thr) c.5699T>C (p.Met1900Thr) c.5420T>C (p.Met1807Thr) c.4463T>C (p.Met1488Thr) c.4454T>C (p.Met1485Thr) | COSMIC COSMIC |
5 | g.37038710T>G | CA359498689 | NIPBL | c.6080T>G (p.Met2027Arg) c.1-25868T>G (n.1-25868T>G) c.5336T>G (p.Met1779Arg) c.5882T>G (p.Met1961Arg) c.5699T>G (p.Met1900Arg) c.5420T>G (p.Met1807Arg) c.4463T>G (p.Met1488Arg) c.4454T>G (p.Met1485Arg) | |
5 | g.37038711G>A | CA359498698 | NIPBL | c.6081G>A (p.Met2027Ile) c.1-25867G>A (n.1-25867G>A) c.5337G>A (p.Met1779Ile) c.5883G>A (p.Met1961Ile) c.5700G>A (p.Met1900Ile) c.5421G>A (p.Met1807Ile) c.4464G>A (p.Met1488Ile) c.4455G>A (p.Met1485Ile) | |
5 | g.37038711G>C | CA359498700 | NIPBL | c.6081G>C (p.Met2027Ile) c.1-25867G>C (n.1-25867G>C) c.5337G>C (p.Met1779Ile) c.5883G>C (p.Met1961Ile) c.5700G>C (p.Met1900Ile) c.5421G>C (p.Met1807Ile) c.4464G>C (p.Met1488Ile) c.4455G>C (p.Met1485Ile) | |
5 | g.37038711G>T | CA359498703 | NIPBL | c.6081G>T (p.Met2027Ile) c.1-25867G>T (n.1-25867G>T) c.5337G>T (p.Met1779Ile) c.5883G>T (p.Met1961Ile) c.5700G>T (p.Met1900Ile) c.5421G>T (p.Met1807Ile) c.4464G>T (p.Met1488Ile) c.4455G>T (p.Met1485Ile) | |
5 | g.37038712C>A | CA359498706 | NIPBL | c.6082C>A (p.Gln2028Lys) c.1-25866C>A (n.1-25866C>A) c.5338C>A (p.Gln1780Lys) c.5884C>A (p.Gln1962Lys) c.5701C>A (p.Gln1901Lys) c.5422C>A (p.Gln1808Lys) c.4465C>A (p.Gln1489Lys) c.4456C>A (p.Gln1486Lys) | |
5 | g.37038712C= | CA1539611559 | NIPBL | c.6082C= (p.Gln2028=) c.1-25866C= (n.1-25866C=) c.5338C= (p.Gln1780=) c.5884C= (p.Gln1962=) c.5701C= (p.Gln1901=) c.5422C= (p.Gln1808=) c.4465C= (p.Gln1489=) c.4456C= (p.Gln1486=) | |
5 | g.37038712C>G | CA359498711 | NIPBL | c.6082C>G (p.Gln2028Glu) c.1-25866C>G (n.1-25866C>G) c.5338C>G (p.Gln1780Glu) c.5884C>G (p.Gln1962Glu) c.5701C>G (p.Gln1901Glu) c.5422C>G (p.Gln1808Glu) c.4465C>G (p.Gln1489Glu) c.4456C>G (p.Gln1486Glu) | |
5 | g.37038712C>T | CA10606653 | NIPBL | c.6082C>T (p.Gln2028Ter) c.1-25866C>T (n.1-25866C>T) c.5338C>T (p.Gln1780Ter) c.5884C>T (p.Gln1962Ter) c.5701C>T (p.Gln1901Ter) c.5422C>T (p.Gln1808Ter) c.4465C>T (p.Gln1489Ter) c.4456C>T (p.Gln1486Ter) | ClinVar dbSNP |
5 | g.37038713A>C | CA359498714 | NIPBL | c.6083A>C (p.Gln2028Pro) c.1-25865A>C (n.1-25865A>C) c.5339A>C (p.Gln1780Pro) c.5885A>C (p.Gln1962Pro) c.5702A>C (p.Gln1901Pro) c.5423A>C (p.Gln1808Pro) c.4466A>C (p.Gln1489Pro) c.4457A>C (p.Gln1486Pro) | |
5 | g.37038713A>G | CA359498716 | NIPBL | c.6083A>G (p.Gln2028Arg) c.1-25865A>G (n.1-25865A>G) c.5339A>G (p.Gln1780Arg) c.5885A>G (p.Gln1962Arg) c.5702A>G (p.Gln1901Arg) c.5423A>G (p.Gln1808Arg) c.4466A>G (p.Gln1489Arg) c.4457A>G (p.Gln1486Arg) | |
5 | g.37038713A>T | CA359498719 | NIPBL | c.6083A>T (p.Gln2028Leu) c.1-25865A>T (n.1-25865A>T) c.5339A>T (p.Gln1780Leu) c.5885A>T (p.Gln1962Leu) c.5702A>T (p.Gln1901Leu) c.5423A>T (p.Gln1808Leu) c.4466A>T (p.Gln1489Leu) c.4457A>T (p.Gln1486Leu) | |
5 | g.37038714A>C | CA359498720 | NIPBL | c.6084A>C (p.Gln2028His) c.1-25864A>C (n.1-25864A>C) c.5340A>C (p.Gln1780His) c.5886A>C (p.Gln1962His) c.5703A>C (p.Gln1901His) c.5424A>C (p.Gln1808His) c.4467A>C (p.Gln1489His) c.4458A>C (p.Gln1486His) | |
5 | g.37038714A>G | CA443905844 | NIPBL | c.6084A>G (p.Gln2028=) c.1-25864A>G (n.1-25864A>G) c.5340A>G (p.Gln1780=) c.5886A>G (p.Gln1962=) c.5703A>G (p.Gln1901=) c.5424A>G (p.Gln1808=) c.4467A>G (p.Gln1489=) c.4458A>G (p.Gln1486=) | |
5 | g.37038714A>T | CA359498721 | NIPBL | c.6084A>T (p.Gln2028His) c.1-25864A>T (n.1-25864A>T) c.5340A>T (p.Gln1780His) c.5886A>T (p.Gln1962His) c.5703A>T (p.Gln1901His) c.5424A>T (p.Gln1808His) c.4467A>T (p.Gln1489His) c.4458A>T (p.Gln1486His) | |
5 | g.37038715C>A | CA359498722 | NIPBL | c.6085C>A (p.Pro2029Thr) c.1-25863C>A (n.1-25863C>A) c.5341C>A (p.Pro1781Thr) c.5887C>A (p.Pro1963Thr) c.5704C>A (p.Pro1902Thr) c.5425C>A (p.Pro1809Thr) c.4468C>A (p.Pro1490Thr) c.4459C>A (p.Pro1487Thr) | |
5 | g.37038715C>G | CA359498723 | NIPBL | c.6085C>G (p.Pro2029Ala) c.1-25863C>G (n.1-25863C>G) c.5341C>G (p.Pro1781Ala) c.5887C>G (p.Pro1963Ala) c.5704C>G (p.Pro1902Ala) c.5425C>G (p.Pro1809Ala) c.4468C>G (p.Pro1490Ala) c.4459C>G (p.Pro1487Ala) | |
5 | g.37038715C>T | CA359498724 | NIPBL | c.6085C>T (p.Pro2029Ser) c.1-25863C>T (n.1-25863C>T) c.5341C>T (p.Pro1781Ser) c.5887C>T (p.Pro1963Ser) c.5704C>T (p.Pro1902Ser) c.5425C>T (p.Pro1809Ser) c.4468C>T (p.Pro1490Ser) c.4459C>T (p.Pro1487Ser) | |
5 | g.37038716C>A | CA359498726 | NIPBL | c.6086C>A (p.Pro2029Gln) c.1-25862C>A (n.1-25862C>A) c.5342C>A (p.Pro1781Gln) c.5888C>A (p.Pro1963Gln) c.5705C>A (p.Pro1902Gln) c.5426C>A (p.Pro1809Gln) c.4469C>A (p.Pro1490Gln) c.4460C>A (p.Pro1487Gln) | |
5 | g.37038716C= | CA1539611565 | NIPBL | c.6086C= (p.Pro2029=) c.1-25862C= (n.1-25862C=) c.5342C= (p.Pro1781=) c.5888C= (p.Pro1963=) c.5705C= (p.Pro1902=) c.5426C= (p.Pro1809=) c.4469C= (p.Pro1490=) c.4460C= (p.Pro1487=) | |
5 | g.37038716C>G | CA359498729 | NIPBL | c.6086C>G (p.Pro2029Arg) c.1-25862C>G (n.1-25862C>G) c.5342C>G (p.Pro1781Arg) c.5888C>G (p.Pro1963Arg) c.5705C>G (p.Pro1902Arg) c.5426C>G (p.Pro1809Arg) c.4469C>G (p.Pro1490Arg) c.4460C>G (p.Pro1487Arg) | |
5 | g.37038716C>T | CA359498731 | NIPBL | c.6086C>T (p.Pro2029Leu) c.1-25862C>T (n.1-25862C>T) c.5342C>T (p.Pro1781Leu) c.5888C>T (p.Pro1963Leu) c.5705C>T (p.Pro1902Leu) c.5426C>T (p.Pro1809Leu) c.4469C>T (p.Pro1490Leu) c.4460C>T (p.Pro1487Leu) | |
5 | g.37038716_37038717insT | CA658657440 | NIPBL | c.6086_6087insT (p.Tyr2030IlefsTer5) c.1-25862_1-25861insT (n.1-25862_1-25861insT) c.5342_5343insT (p.Tyr1782IlefsTer5) c.5888_5889insT (p.Tyr1964IlefsTer5) c.5705_5706insT (p.Tyr1903IlefsTer5) c.5426_5427insT (p.Tyr1810IlefsTer5) c.4469_4470insT (p.Tyr1491IlefsTer5) c.4460_4461insT (p.Tyr1488IlefsTer5) | ClinVar dbSNP |
5 | g.37038717A= | CA1539611571 | NIPBL | c.6087A= (p.Pro2029=) c.1-25861A= (n.1-25861A=) c.5343A= (p.Pro1781=) c.5889A= (p.Pro1963=) c.5706A= (p.Pro1902=) c.5427A= (p.Pro1809=) c.4470A= (p.Pro1490=) c.4461A= (p.Pro1487=) | |
5 | g.37038717A>C | CA443905845 | NIPBL | c.6087A>C (p.Pro2029=) c.1-25861A>C (n.1-25861A>C) c.5343A>C (p.Pro1781=) c.5889A>C (p.Pro1963=) c.5706A>C (p.Pro1902=) c.5427A>C (p.Pro1809=) c.4470A>C (p.Pro1490=) c.4461A>C (p.Pro1487=) | |
5 | g.37038717A>G | CA443905846 | NIPBL | c.6087A>G (p.Pro2029=) c.1-25861A>G (n.1-25861A>G) c.5343A>G (p.Pro1781=) c.5889A>G (p.Pro1963=) c.5706A>G (p.Pro1902=) c.5427A>G (p.Pro1809=) c.4470A>G (p.Pro1490=) c.4461A>G (p.Pro1487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038717A>T | CA443905847 | NIPBL | c.6087A>T (p.Pro2029=) c.1-25861A>T (n.1-25861A>T) c.5343A>T (p.Pro1781=) c.5889A>T (p.Pro1963=) c.5706A>T (p.Pro1902=) c.5427A>T (p.Pro1809=) c.4470A>T (p.Pro1490=) c.4461A>T (p.Pro1487=) | |
5 | g.37038718T>A | CA359498739 | NIPBL | c.6088T>A (p.Tyr2030Asn) c.1-25860T>A (n.1-25860T>A) c.5344T>A (p.Tyr1782Asn) c.5890T>A (p.Tyr1964Asn) c.5707T>A (p.Tyr1903Asn) c.5428T>A (p.Tyr1810Asn) c.4471T>A (p.Tyr1491Asn) c.4462T>A (p.Tyr1488Asn) | |
5 | g.37038718T>C | CA359498738 | NIPBL | c.6088T>C (p.Tyr2030His) c.1-25860T>C (n.1-25860T>C) c.5344T>C (p.Tyr1782His) c.5890T>C (p.Tyr1964His) c.5707T>C (p.Tyr1903His) c.5428T>C (p.Tyr1810His) c.4471T>C (p.Tyr1491His) c.4462T>C (p.Tyr1488His) | |
5 | g.37038718T>G | CA359498735 | NIPBL | c.6088T>G (p.Tyr2030Asp) c.1-25860T>G (n.1-25860T>G) c.5344T>G (p.Tyr1782Asp) c.5890T>G (p.Tyr1964Asp) c.5707T>G (p.Tyr1903Asp) c.5428T>G (p.Tyr1810Asp) c.4471T>G (p.Tyr1491Asp) c.4462T>G (p.Tyr1488Asp) | |
5 | g.37038719A>C | CA359498740 | NIPBL | c.6089A>C (p.Tyr2030Ser) c.1-25859A>C (n.1-25859A>C) c.5345A>C (p.Tyr1782Ser) c.5891A>C (p.Tyr1964Ser) c.5708A>C (p.Tyr1903Ser) c.5429A>C (p.Tyr1810Ser) c.4472A>C (p.Tyr1491Ser) c.4463A>C (p.Tyr1488Ser) | |
5 | g.37038719A>G | CA359498742 | NIPBL | c.6089A>G (p.Tyr2030Cys) c.1-25859A>G (n.1-25859A>G) c.5345A>G (p.Tyr1782Cys) c.5891A>G (p.Tyr1964Cys) c.5708A>G (p.Tyr1903Cys) c.5429A>G (p.Tyr1810Cys) c.4472A>G (p.Tyr1491Cys) c.4463A>G (p.Tyr1488Cys) | ClinVar |
5 | g.37038719A>T | CA359498741 | NIPBL | c.6089A>T (p.Tyr2030Phe) c.1-25859A>T (n.1-25859A>T) c.5345A>T (p.Tyr1782Phe) c.5891A>T (p.Tyr1964Phe) c.5708A>T (p.Tyr1903Phe) c.5429A>T (p.Tyr1810Phe) c.4472A>T (p.Tyr1491Phe) c.4463A>T (p.Tyr1488Phe) | |
5 | g.37038720C>A | CA359498744 | NIPBL | c.6090C>A (p.Tyr2030Ter) c.1-25858C>A (n.1-25858C>A) c.5346C>A (p.Tyr1782Ter) c.5892C>A (p.Tyr1964Ter) c.5709C>A (p.Tyr1903Ter) c.5430C>A (p.Tyr1810Ter) c.4473C>A (p.Tyr1491Ter) c.4464C>A (p.Tyr1488Ter) | |
5 | g.37038720C= | CA1539611575 | NIPBL | c.6090C= (p.Tyr2030=) c.1-25858C= (n.1-25858C=) c.5346C= (p.Tyr1782=) c.5892C= (p.Tyr1964=) c.5709C= (p.Tyr1903=) c.5430C= (p.Tyr1810=) c.4473C= (p.Tyr1491=) c.4464C= (p.Tyr1488=) | |
5 | g.37038720C>G | CA359498747 | NIPBL | c.6090C>G (p.Tyr2030Ter) c.1-25858C>G (n.1-25858C>G) c.5346C>G (p.Tyr1782Ter) c.5892C>G (p.Tyr1964Ter) c.5709C>G (p.Tyr1903Ter) c.5430C>G (p.Tyr1810Ter) c.4473C>G (p.Tyr1491Ter) c.4464C>G (p.Tyr1488Ter) | |
5 | g.37038720C>T | CA443905848 | NIPBL | c.6090C>T (p.Tyr2030=) c.1-25858C>T (n.1-25858C>T) c.5346C>T (p.Tyr1782=) c.5892C>T (p.Tyr1964=) c.5709C>T (p.Tyr1903=) c.5430C>T (p.Tyr1810=) c.4473C>T (p.Tyr1491=) c.4464C>T (p.Tyr1488=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37038721C>A | CA359498750 | NIPBL | c.6091C>A (p.Leu2031Ile) c.1-25857C>A (n.1-25857C>A) c.5347C>A (p.Leu1783Ile) c.5893C>A (p.Leu1965Ile) c.5710C>A (p.Leu1904Ile) c.5431C>A (p.Leu1811Ile) c.4474C>A (p.Leu1492Ile) c.4465C>A (p.Leu1489Ile) | |
5 | g.37038721C>G | CA359498769 | NIPBL | c.6091C>G (p.Leu2031Val) c.1-25857C>G (n.1-25857C>G) c.5347C>G (p.Leu1783Val) c.5893C>G (p.Leu1965Val) c.5710C>G (p.Leu1904Val) c.5431C>G (p.Leu1811Val) c.4474C>G (p.Leu1492Val) c.4465C>G (p.Leu1489Val) | |
5 | g.37038721C>T | CA359498764 | NIPBL | c.6091C>T (p.Leu2031Phe) c.1-25857C>T (n.1-25857C>T) c.5347C>T (p.Leu1783Phe) c.5893C>T (p.Leu1965Phe) c.5710C>T (p.Leu1904Phe) c.5431C>T (p.Leu1811Phe) c.4474C>T (p.Leu1492Phe) c.4465C>T (p.Leu1489Phe) | |
5 | g.37038722T>A | CA359498779 | NIPBL | c.6092T>A (p.Leu2031His) c.1-25856T>A (n.1-25856T>A) c.5348T>A (p.Leu1783His) c.5894T>A (p.Leu1965His) c.5711T>A (p.Leu1904His) c.5432T>A (p.Leu1811His) c.4475T>A (p.Leu1492His) c.4466T>A (p.Leu1489His) | COSMIC COSMIC |
5 | g.37038722T>C | CA359498785 | NIPBL | c.6092T>C (p.Leu2031Pro) c.1-25856T>C (n.1-25856T>C) c.5348T>C (p.Leu1783Pro) c.5894T>C (p.Leu1965Pro) c.5711T>C (p.Leu1904Pro) c.5432T>C (p.Leu1811Pro) c.4475T>C (p.Leu1492Pro) c.4466T>C (p.Leu1489Pro) | |
5 | g.37038722T>G | CA359498782 | NIPBL | c.6092T>G (p.Leu2031Arg) c.1-25856T>G (n.1-25856T>G) c.5348T>G (p.Leu1783Arg) c.5894T>G (p.Leu1965Arg) c.5711T>G (p.Leu1904Arg) c.5432T>G (p.Leu1811Arg) c.4475T>G (p.Leu1492Arg) c.4466T>G (p.Leu1489Arg) | |
5 | g.37038723T>A | CA443905849 | NIPBL | c.6093T>A (p.Leu2031=) c.1-25855T>A (n.1-25855T>A) c.5349T>A (p.Leu1783=) c.5895T>A (p.Leu1965=) c.5712T>A (p.Leu1904=) c.5433T>A (p.Leu1811=) c.4476T>A (p.Leu1492=) c.4467T>A (p.Leu1489=) | |
5 | g.37038723T>C | CA443905850 | NIPBL | c.6093T>C (p.Leu2031=) c.1-25855T>C (n.1-25855T>C) c.5349T>C (p.Leu1783=) c.5895T>C (p.Leu1965=) c.5712T>C (p.Leu1904=) c.5433T>C (p.Leu1811=) c.4476T>C (p.Leu1492=) c.4467T>C (p.Leu1489=) | |
5 | g.37038723T>G | CA443905851 | NIPBL | c.6093T>G (p.Leu2031=) c.1-25855T>G (n.1-25855T>G) c.5349T>G (p.Leu1783=) c.5895T>G (p.Leu1965=) c.5712T>G (p.Leu1904=) c.5433T>G (p.Leu1811=) c.4476T>G (p.Leu1492=) c.4467T>G (p.Leu1489=) | |
5 | g.37038724A>C | CA359498787 | NIPBL | c.6094A>C (p.Thr2032Pro) c.1-25854A>C (n.1-25854A>C) c.5350A>C (p.Thr1784Pro) c.5896A>C (p.Thr1966Pro) c.5713A>C (p.Thr1905Pro) c.5434A>C (p.Thr1812Pro) c.4477A>C (p.Thr1493Pro) c.4468A>C (p.Thr1490Pro) | |
5 | g.37038724A>G | CA359498789 | NIPBL | c.6094A>G (p.Thr2032Ala) c.1-25854A>G (n.1-25854A>G) c.5350A>G (p.Thr1784Ala) c.5896A>G (p.Thr1966Ala) c.5713A>G (p.Thr1905Ala) c.5434A>G (p.Thr1812Ala) c.4477A>G (p.Thr1493Ala) c.4468A>G (p.Thr1490Ala) | |
5 | g.37038724A>T | CA359498794 | NIPBL | c.6094A>T (p.Thr2032Ser) c.1-25854A>T (n.1-25854A>T) c.5350A>T (p.Thr1784Ser) c.5896A>T (p.Thr1966Ser) c.5713A>T (p.Thr1905Ser) c.5434A>T (p.Thr1812Ser) c.4477A>T (p.Thr1493Ser) c.4468A>T (p.Thr1490Ser) | |
5 | g.37038725C>A | CA359498797 | NIPBL | c.6095C>A (p.Thr2032Asn) c.1-25853C>A (n.1-25853C>A) c.5351C>A (p.Thr1784Asn) c.5897C>A (p.Thr1966Asn) c.5714C>A (p.Thr1905Asn) c.5435C>A (p.Thr1812Asn) c.4478C>A (p.Thr1493Asn) c.4469C>A (p.Thr1490Asn) | |
5 | g.37038725C>G | CA359498800 | NIPBL | c.6095C>G (p.Thr2032Ser) c.1-25853C>G (n.1-25853C>G) c.5351C>G (p.Thr1784Ser) c.5897C>G (p.Thr1966Ser) c.5714C>G (p.Thr1905Ser) c.5435C>G (p.Thr1812Ser) c.4478C>G (p.Thr1493Ser) c.4469C>G (p.Thr1490Ser) | |
5 | g.37038725C>T | CA359498806 | NIPBL | c.6095C>T (p.Thr2032Ile) c.1-25853C>T (n.1-25853C>T) c.5351C>T (p.Thr1784Ile) c.5897C>T (p.Thr1966Ile) c.5714C>T (p.Thr1905Ile) c.5435C>T (p.Thr1812Ile) c.4478C>T (p.Thr1493Ile) c.4469C>T (p.Thr1490Ile) | |
5 | g.37038726C>A | CA443905852 | NIPBL | c.6096C>A (p.Thr2032=) c.1-25852C>A (n.1-25852C>A) c.5352C>A (p.Thr1784=) c.5898C>A (p.Thr1966=) c.5715C>A (p.Thr1905=) c.5436C>A (p.Thr1812=) c.4479C>A (p.Thr1493=) c.4470C>A (p.Thr1490=) | |
5 | g.37038726C>G | CA443905854 | NIPBL | c.6096C>G (p.Thr2032=) c.1-25852C>G (n.1-25852C>G) c.5352C>G (p.Thr1784=) c.5898C>G (p.Thr1966=) c.5715C>G (p.Thr1905=) c.5436C>G (p.Thr1812=) c.4479C>G (p.Thr1493=) c.4470C>G (p.Thr1490=) | |
5 | g.37038726C>T | CA443905853 | NIPBL | c.6096C>T (p.Thr2032=) c.1-25852C>T (n.1-25852C>T) c.5352C>T (p.Thr1784=) c.5898C>T (p.Thr1966=) c.5715C>T (p.Thr1905=) c.5436C>T (p.Thr1812=) c.4479C>T (p.Thr1493=) c.4470C>T (p.Thr1490=) | |
5 | g.37038727A>C | CA359498807 | NIPBL | c.6097A>C (p.Thr2033Pro) c.1-25851A>C (n.1-25851A>C) c.5353A>C (p.Thr1785Pro) c.5899A>C (p.Thr1967Pro) c.5716A>C (p.Thr1906Pro) c.5437A>C (p.Thr1813Pro) c.4480A>C (p.Thr1494Pro) c.4471A>C (p.Thr1491Pro) | |
5 | g.37038727A>G | CA359498808 | NIPBL | c.6097A>G (p.Thr2033Ala) c.1-25851A>G (n.1-25851A>G) c.5353A>G (p.Thr1785Ala) c.5899A>G (p.Thr1967Ala) c.5716A>G (p.Thr1906Ala) c.5437A>G (p.Thr1813Ala) c.4480A>G (p.Thr1494Ala) c.4471A>G (p.Thr1491Ala) | gnomAD v4 |
5 | g.37038727A>T | CA359498809 | NIPBL | c.6097A>T (p.Thr2033Ser) c.1-25851A>T (n.1-25851A>T) c.5353A>T (p.Thr1785Ser) c.5899A>T (p.Thr1967Ser) c.5716A>T (p.Thr1906Ser) c.5437A>T (p.Thr1813Ser) c.4480A>T (p.Thr1494Ser) c.4471A>T (p.Thr1491Ser) | |
5 | g.37038728C>A | CA359498810 | NIPBL | c.6098C>A (p.Thr2033Asn) c.1-25850C>A (n.1-25850C>A) c.5354C>A (p.Thr1785Asn) c.5900C>A (p.Thr1967Asn) c.5717C>A (p.Thr1906Asn) c.5438C>A (p.Thr1813Asn) c.4481C>A (p.Thr1494Asn) c.4472C>A (p.Thr1491Asn) | |
5 | g.37038728C>G | CA359498813 | NIPBL | c.6098C>G (p.Thr2033Ser) c.1-25850C>G (n.1-25850C>G) c.5354C>G (p.Thr1785Ser) c.5900C>G (p.Thr1967Ser) c.5717C>G (p.Thr1906Ser) c.5438C>G (p.Thr1813Ser) c.4481C>G (p.Thr1494Ser) c.4472C>G (p.Thr1491Ser) | ClinVar |
5 | g.37038728C>T | CA359498819 | NIPBL | c.6098C>T (p.Thr2033Ile) c.1-25850C>T (n.1-25850C>T) c.5354C>T (p.Thr1785Ile) c.5900C>T (p.Thr1967Ile) c.5717C>T (p.Thr1906Ile) c.5438C>T (p.Thr1813Ile) c.4481C>T (p.Thr1494Ile) c.4472C>T (p.Thr1491Ile) | |
5 | g.37038729T>A | CA443905855 | NIPBL | c.6099T>A (p.Thr2033=) c.1-25849T>A (n.1-25849T>A) c.5355T>A (p.Thr1785=) c.5901T>A (p.Thr1967=) c.5718T>A (p.Thr1906=) c.5439T>A (p.Thr1813=) c.4482T>A (p.Thr1494=) c.4473T>A (p.Thr1491=) | |
5 | g.37038729T>C | CA443905856 | NIPBL | c.6099T>C (p.Thr2033=) c.1-25849T>C (n.1-25849T>C) c.5355T>C (p.Thr1785=) c.5901T>C (p.Thr1967=) c.5718T>C (p.Thr1906=) c.5439T>C (p.Thr1813=) c.4482T>C (p.Thr1494=) c.4473T>C (p.Thr1491=) | |
5 | g.37038729T>G | CA443905857 | NIPBL | c.6099T>G (p.Thr2033=) c.1-25849T>G (n.1-25849T>G) c.5355T>G (p.Thr1785=) c.5901T>G (p.Thr1967=) c.5718T>G (p.Thr1906=) c.5439T>G (p.Thr1813=) c.4482T>G (p.Thr1494=) c.4473T>G (p.Thr1491=) | |
5 | g.37038730A>C | CA359498831 | NIPBL | c.6100A>C (p.Lys2034Gln) c.1-25848A>C (n.1-25848A>C) c.5356A>C (p.Lys1786Gln) c.5902A>C (p.Lys1968Gln) c.5719A>C (p.Lys1907Gln) c.5440A>C (p.Lys1814Gln) c.4483A>C (p.Lys1495Gln) c.4474A>C (p.Lys1492Gln) | |
5 | g.37038730A>G | CA359498823 | NIPBL | c.6100A>G (p.Lys2034Glu) c.1-25848A>G (n.1-25848A>G) c.5356A>G (p.Lys1786Glu) c.5902A>G (p.Lys1968Glu) c.5719A>G (p.Lys1907Glu) c.5440A>G (p.Lys1814Glu) c.4483A>G (p.Lys1495Glu) c.4474A>G (p.Lys1492Glu) | |
5 | g.37038730A>T | CA359498828 | NIPBL | c.6100A>T (p.Lys2034Ter) c.1-25848A>T (n.1-25848A>T) c.5356A>T (p.Lys1786Ter) c.5902A>T (p.Lys1968Ter) c.5719A>T (p.Lys1907Ter) c.5440A>T (p.Lys1814Ter) c.4483A>T (p.Lys1495Ter) c.4474A>T (p.Lys1492Ter) | |
5 | g.37038731A>C | CA359498835 | NIPBL | c.6101A>C (p.Lys2034Thr) c.1-25847A>C (n.1-25847A>C) c.5357A>C (p.Lys1786Thr) c.5903A>C (p.Lys1968Thr) c.5720A>C (p.Lys1907Thr) c.5441A>C (p.Lys1814Thr) c.4484A>C (p.Lys1495Thr) c.4475A>C (p.Lys1492Thr) | |
5 | g.37038731A>G | CA359498851 | NIPBL | c.6101A>G (p.Lys2034Arg) c.1-25847A>G (n.1-25847A>G) c.5357A>G (p.Lys1786Arg) c.5903A>G (p.Lys1968Arg) c.5720A>G (p.Lys1907Arg) c.5441A>G (p.Lys1814Arg) c.4484A>G (p.Lys1495Arg) c.4475A>G (p.Lys1492Arg) | |
5 | g.37038731A>T | CA359498859 | NIPBL | c.6101A>T (p.Lys2034Ile) c.1-25847A>T (n.1-25847A>T) c.5357A>T (p.Lys1786Ile) c.5903A>T (p.Lys1968Ile) c.5720A>T (p.Lys1907Ile) c.5441A>T (p.Lys1814Ile) c.4484A>T (p.Lys1495Ile) c.4475A>T (p.Lys1492Ile) | |
5 | g.37038732A>C | CA359498864 | NIPBL | c.6102A>C (p.Lys2034Asn) c.1-25846A>C (n.1-25846A>C) c.5358A>C (p.Lys1786Asn) c.5904A>C (p.Lys1968Asn) c.5721A>C (p.Lys1907Asn) c.5442A>C (p.Lys1814Asn) c.4485A>C (p.Lys1495Asn) c.4476A>C (p.Lys1492Asn) | |
5 | g.37038732A>G | CA443905858 | NIPBL | c.6102A>G (p.Lys2034=) c.1-25846A>G (n.1-25846A>G) c.5358A>G (p.Lys1786=) c.5904A>G (p.Lys1968=) c.5721A>G (p.Lys1907=) c.5442A>G (p.Lys1814=) c.4485A>G (p.Lys1495=) c.4476A>G (p.Lys1492=) | |
5 | g.37038732A>T | CA359498865 | NIPBL | c.6102A>T (p.Lys2034Asn) c.1-25846A>T (n.1-25846A>T) c.5358A>T (p.Lys1786Asn) c.5904A>T (p.Lys1968Asn) c.5721A>T (p.Lys1907Asn) c.5442A>T (p.Lys1814Asn) c.4485A>T (p.Lys1495Asn) c.4476A>T (p.Lys1492Asn) | |
5 | g.37038733T>A | CA359498866 | NIPBL | c.6103T>A (p.Cys2035Ser) c.1-25845T>A (n.1-25845T>A) c.5359T>A (p.Cys1787Ser) c.5905T>A (p.Cys1969Ser) c.5722T>A (p.Cys1908Ser) c.5443T>A (p.Cys1815Ser) c.4486T>A (p.Cys1496Ser) c.4477T>A (p.Cys1493Ser) | |
5 | g.37038733T>C | CA359498867 | NIPBL | c.6103T>C (p.Cys2035Arg) c.1-25845T>C (n.1-25845T>C) c.5359T>C (p.Cys1787Arg) c.5905T>C (p.Cys1969Arg) c.5722T>C (p.Cys1908Arg) c.5443T>C (p.Cys1815Arg) c.4486T>C (p.Cys1496Arg) c.4477T>C (p.Cys1493Arg) | |
5 | g.37038733T>G | CA359498871 | NIPBL | c.6103T>G (p.Cys2035Gly) c.1-25845T>G (n.1-25845T>G) c.5359T>G (p.Cys1787Gly) c.5905T>G (p.Cys1969Gly) c.5722T>G (p.Cys1908Gly) c.5443T>G (p.Cys1815Gly) c.4486T>G (p.Cys1496Gly) c.4477T>G (p.Cys1493Gly) | |
5 | g.37038734G>A | CA359498878 | NIPBL | c.6104G>A (p.Cys2035Tyr) c.1-25844G>A (n.1-25844G>A) c.5360G>A (p.Cys1787Tyr) c.5906G>A (p.Cys1969Tyr) c.5723G>A (p.Cys1908Tyr) c.5444G>A (p.Cys1815Tyr) c.4487G>A (p.Cys1496Tyr) c.4478G>A (p.Cys1493Tyr) | |
5 | g.37038734G>C | CA359498880 | NIPBL | c.6104G>C (p.Cys2035Ser) c.1-25844G>C (n.1-25844G>C) c.5360G>C (p.Cys1787Ser) c.5906G>C (p.Cys1969Ser) c.5723G>C (p.Cys1908Ser) c.5444G>C (p.Cys1815Ser) c.4487G>C (p.Cys1496Ser) c.4478G>C (p.Cys1493Ser) | |
5 | g.37038734G>T | CA359498882 | NIPBL | c.6104G>T (p.Cys2035Phe) c.1-25844G>T (n.1-25844G>T) c.5360G>T (p.Cys1787Phe) c.5906G>T (p.Cys1969Phe) c.5723G>T (p.Cys1908Phe) c.5444G>T (p.Cys1815Phe) c.4487G>T (p.Cys1496Phe) c.4478G>T (p.Cys1493Phe) | |
5 | g.37038735T>A | CA359498884 | NIPBL | c.6105T>A (p.Cys2035Ter) c.1-25843T>A (n.1-25843T>A) c.5361T>A (p.Cys1787Ter) c.5907T>A (p.Cys1969Ter) c.5724T>A (p.Cys1908Ter) c.5445T>A (p.Cys1815Ter) c.4488T>A (p.Cys1496Ter) c.4479T>A (p.Cys1493Ter) | |
5 | g.37038735T>C | CA443905859 | NIPBL | c.6105T>C (p.Cys2035=) c.1-25843T>C (n.1-25843T>C) c.5361T>C (p.Cys1787=) c.5907T>C (p.Cys1969=) c.5724T>C (p.Cys1908=) c.5445T>C (p.Cys1815=) c.4488T>C (p.Cys1496=) c.4479T>C (p.Cys1493=) | |
5 | g.37038735T>G | CA359498888 | NIPBL | c.6105T>G (p.Cys2035Trp) c.1-25843T>G (n.1-25843T>G) c.5361T>G (p.Cys1787Trp) c.5907T>G (p.Cys1969Trp) c.5724T>G (p.Cys1908Trp) c.5445T>G (p.Cys1815Trp) c.4488T>G (p.Cys1496Trp) c.4479T>G (p.Cys1493Trp) | |
5 | g.37038736A>C | CA359498892 | NIPBL | c.6106A>C (p.Ser2036Arg) c.1-25842A>C (n.1-25842A>C) c.5362A>C (p.Ser1788Arg) c.5908A>C (p.Ser1970Arg) c.5725A>C (p.Ser1909Arg) c.5446A>C (p.Ser1816Arg) c.4489A>C (p.Ser1497Arg) c.4480A>C (p.Ser1494Arg) | |
5 | g.37038736A>G | CA359498895 | NIPBL | c.6106A>G (p.Ser2036Gly) c.1-25842A>G (n.1-25842A>G) c.5362A>G (p.Ser1788Gly) c.5908A>G (p.Ser1970Gly) c.5725A>G (p.Ser1909Gly) c.5446A>G (p.Ser1816Gly) c.4489A>G (p.Ser1497Gly) c.4480A>G (p.Ser1494Gly) | |
5 | g.37038736A>T | CA359498910 | NIPBL | c.6106A>T (p.Ser2036Cys) c.1-25842A>T (n.1-25842A>T) c.5362A>T (p.Ser1788Cys) c.5908A>T (p.Ser1970Cys) c.5725A>T (p.Ser1909Cys) c.5446A>T (p.Ser1816Cys) c.4489A>T (p.Ser1497Cys) c.4480A>T (p.Ser1494Cys) | |
5 | g.37038737G>A | CA3236920 | NIPBL | c.6107G>A (p.Ser2036Asn) c.1-25841G>A (n.1-25841G>A) c.5363G>A (p.Ser1788Asn) c.5909G>A (p.Ser1970Asn) c.5726G>A (p.Ser1909Asn) c.5447G>A (p.Ser1816Asn) c.4490G>A (p.Ser1497Asn) c.4481G>A (p.Ser1494Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37038737G>C | CA359498922 | NIPBL | c.6107G>C (p.Ser2036Thr) c.1-25841G>C (n.1-25841G>C) c.5363G>C (p.Ser1788Thr) c.5909G>C (p.Ser1970Thr) c.5726G>C (p.Ser1909Thr) c.5447G>C (p.Ser1816Thr) c.4490G>C (p.Ser1497Thr) c.4481G>C (p.Ser1494Thr) | |
5 | g.37038737G= | CA1539611579 | NIPBL | c.6107G= (p.Ser2036=) c.1-25841G= (n.1-25841G=) c.5363G= (p.Ser1788=) c.5909G= (p.Ser1970=) c.5726G= (p.Ser1909=) c.5447G= (p.Ser1816=) c.4490G= (p.Ser1497=) c.4481G= (p.Ser1494=) | |
5 | g.37038737G>T | CA359498928 | NIPBL | c.6107G>T (p.Ser2036Ile) c.1-25841G>T (n.1-25841G>T) c.5363G>T (p.Ser1788Ile) c.5909G>T (p.Ser1970Ile) c.5726G>T (p.Ser1909Ile) c.5447G>T (p.Ser1816Ile) c.4490G>T (p.Ser1497Ile) c.4481G>T (p.Ser1494Ile) | |
5 | g.37038738T>A | CA359498931 | NIPBL | c.6108T>A (p.Ser2036Arg) c.1-25840T>A (n.1-25840T>A) c.5364T>A (p.Ser1788Arg) c.5910T>A (p.Ser1970Arg) c.5727T>A (p.Ser1909Arg) c.5448T>A (p.Ser1816Arg) c.4491T>A (p.Ser1497Arg) c.4482T>A (p.Ser1494Arg) | |
5 | g.37038738T>C | CA443905860 | NIPBL | c.6108T>C (p.Ser2036=) c.1-25840T>C (n.1-25840T>C) c.5364T>C (p.Ser1788=) c.5910T>C (p.Ser1970=) c.5727T>C (p.Ser1909=) c.5448T>C (p.Ser1816=) c.4491T>C (p.Ser1497=) c.4482T>C (p.Ser1494=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37038738T>G | CA359498939 | NIPBL | c.6108T>G (p.Ser2036Arg) c.1-25840T>G (n.1-25840T>G) c.5364T>G (p.Ser1788Arg) c.5910T>G (p.Ser1970Arg) c.5727T>G (p.Ser1909Arg) c.5448T>G (p.Ser1816Arg) c.4491T>G (p.Ser1497Arg) c.4482T>G (p.Ser1494Arg) | |
5 | g.37038738T= | CA1539611584 | NIPBL | c.6108T= (p.Ser2036=) c.1-25840T= (n.1-25840T=) c.5364T= (p.Ser1788=) c.5910T= (p.Ser1970=) c.5727T= (p.Ser1909=) c.5448T= (p.Ser1816=) c.4491T= (p.Ser1497=) c.4482T= (p.Ser1494=) | |
5 | g.37038739G>A | CA359498943 | NIPBL | c.6108+1G>A (n.6108+1G>A) c.1-25839G>A (n.1-25839G>A) c.5364+1G>A (n.5364+1G>A) c.5910+1G>A (n.5910+1G>A) c.5727+1G>A (n.5727+1G>A) c.5448+1G>A (n.5448+1G>A) c.4491+1G>A (n.4491+1G>A) c.4482+1G>A (n.4482+1G>A) | |
5 | g.37038739G>C | CA275220 | NIPBL | c.6108+1G>C (n.6108+1G>C) c.1-25839G>C (n.1-25839G>C) c.5364+1G>C (n.5364+1G>C) c.5910+1G>C (n.5910+1G>C) c.5727+1G>C (n.5727+1G>C) c.5448+1G>C (n.5448+1G>C) c.4491+1G>C (n.4491+1G>C) c.4482+1G>C (n.4482+1G>C) | ClinVar dbSNP |
5 | g.37038739G= | CA1539611593 | NIPBL | c.6108+1G= (n.6108+1G=) c.1-25839G= (n.1-25839G=) c.5364+1G= (n.5364+1G=) c.5910+1G= (n.5910+1G=) c.5727+1G= (n.5727+1G=) c.5448+1G= (n.5448+1G=) c.4491+1G= (n.4491+1G=) c.4482+1G= (n.4482+1G=) | |
5 | g.37038739G>T | CA272196 | NIPBL | c.6108+1G>T (n.6108+1G>T) c.1-25839G>T (n.1-25839G>T) c.5364+1G>T (n.5364+1G>T) c.5910+1G>T (n.5910+1G>T) c.5727+1G>T (n.5727+1G>T) c.5448+1G>T (n.5448+1G>T) c.4491+1G>T (n.4491+1G>T) c.4482+1G>T (n.4482+1G>T) | ClinVar dbSNP |
5 | g.37038740T>A | CA359498967 | NIPBL | c.6108+2T>A (n.6108+2T>A) c.1-25838T>A (n.1-25838T>A) c.5364+2T>A (n.5364+2T>A) c.5910+2T>A (n.5910+2T>A) c.5727+2T>A (n.5727+2T>A) c.5448+2T>A (n.5448+2T>A) c.4491+2T>A (n.4491+2T>A) c.4482+2T>A (n.4482+2T>A) | |
5 | g.37038740T>C | CA277253 | NIPBL | c.6108+2T>C (n.6108+2T>C) c.1-25838T>C (n.1-25838T>C) c.5364+2T>C (n.5364+2T>C) c.5910+2T>C (n.5910+2T>C) c.5727+2T>C (n.5727+2T>C) c.5448+2T>C (n.5448+2T>C) c.4491+2T>C (n.4491+2T>C) c.4482+2T>C (n.4482+2T>C) | ClinVar dbSNP |
5 | g.37038740T>G | CA359498951 | NIPBL | c.6108+2T>G (n.6108+2T>G) c.1-25838T>G (n.1-25838T>G) c.5364+2T>G (n.5364+2T>G) c.5910+2T>G (n.5910+2T>G) c.5727+2T>G (n.5727+2T>G) c.5448+2T>G (n.5448+2T>G) c.4491+2T>G (n.4491+2T>G) c.4482+2T>G (n.4482+2T>G) | |
5 | g.37038740T= | CA1539611600 | NIPBL | c.6108+2T= (n.6108+2T=) c.1-25838T= (n.1-25838T=) c.5364+2T= (n.5364+2T=) c.5910+2T= (n.5910+2T=) c.5727+2T= (n.5727+2T=) c.5448+2T= (n.5448+2T=) c.4491+2T= (n.4491+2T=) c.4482+2T= (n.4482+2T=) | |
5 | g.37038742A>C | CA2695204438 | NIPBL | c.6108+4A>C (n.6108+4A>C) c.1-25836A>C (n.1-25836A>C) c.5364+4A>C (n.5364+4A>C) c.5910+4A>C (n.5910+4A>C) c.5727+4A>C (n.5727+4A>C) c.5448+4A>C (n.5448+4A>C) c.4491+4A>C (n.4491+4A>C) c.4482+4A>C (n.4482+4A>C) | |
5 | g.37038743G>A | CA16042619 | NIPBL | c.6108+5G>A (n.6108+5G>A) c.1-25835G>A (n.1-25835G>A) c.5364+5G>A (n.5364+5G>A) c.5910+5G>A (n.5910+5G>A) c.5727+5G>A (n.5727+5G>A) c.5448+5G>A (n.5448+5G>A) c.4491+5G>A (n.4491+5G>A) c.4482+5G>A (n.4482+5G>A) | ClinVar dbSNP |
5 | g.37038743G= | CA1539611604 | NIPBL | c.6108+5G= (n.6108+5G=) c.1-25835G= (n.1-25835G=) c.5364+5G= (n.5364+5G=) c.5910+5G= (n.5910+5G=) c.5727+5G= (n.5727+5G=) c.5448+5G= (n.5448+5G=) c.4491+5G= (n.4491+5G=) c.4482+5G= (n.4482+5G=) | |
5 | g.37038745A= | CA1539611607 | NIPBL | c.6108+7A= (n.6108+7A=) c.1-25833A= (n.1-25833A=) c.5364+7A= (n.5364+7A=) c.5910+7A= (n.5910+7A=) c.5727+7A= (n.5727+7A=) c.5448+7A= (n.5448+7A=) c.4491+7A= (n.4491+7A=) c.4482+7A= (n.4482+7A=) | |
5 | g.37038745A>G | CA272197 | NIPBL | c.6108+7A>G (n.6108+7A>G) c.1-25833A>G (n.1-25833A>G) c.5364+7A>G (n.5364+7A>G) c.5910+7A>G (n.5910+7A>G) c.5727+7A>G (n.5727+7A>G) c.5448+7A>G (n.5448+7A>G) c.4491+7A>G (n.4491+7A>G) c.4482+7A>G (n.4482+7A>G) | ClinVar dbSNP |
5 | g.37038746T>A | CA559020427 | NIPBL | c.6108+8T>A (n.6108+8T>A) c.1-25832T>A (n.1-25832T>A) c.5364+8T>A (n.5364+8T>A) c.5910+8T>A (n.5910+8T>A) c.5727+8T>A (n.5727+8T>A) c.5448+8T>A (n.5448+8T>A) c.4491+8T>A (n.4491+8T>A) c.4482+8T>A (n.4482+8T>A) | dbSNP gnomAD v2 |
5 | g.37038746T>C | CA2673577288 | NIPBL | c.6108+8T>C (n.6108+8T>C) c.1-25832T>C (n.1-25832T>C) c.5364+8T>C (n.5364+8T>C) c.5910+8T>C (n.5910+8T>C) c.5727+8T>C (n.5727+8T>C) c.5448+8T>C (n.5448+8T>C) c.4491+8T>C (n.4491+8T>C) c.4482+8T>C (n.4482+8T>C) | gnomAD v4 |
5 | g.37038746T= | CA1539611609 | NIPBL | c.6108+8T= (n.6108+8T=) c.1-25832T= (n.1-25832T=) c.5364+8T= (n.5364+8T=) c.5910+8T= (n.5910+8T=) c.5727+8T= (n.5727+8T=) c.5448+8T= (n.5448+8T=) c.4491+8T= (n.4491+8T=) c.4482+8T= (n.4482+8T=) | |
5 | g.37038747_37038749del | CA2673577289 | NIPBL | c.6108+9_6108+11del (n.6108+9_6108+11del) c.1-25831_1-25829del (n.1-25831_1-25829del) c.5364+9_5364+11del (n.5364+9_5364+11del) c.5910+9_5910+11del (n.5910+9_5910+11del) c.5727+9_5727+11del (n.5727+9_5727+11del) c.5448+9_5448+11del (n.5448+9_5448+11del) c.4491+9_4491+11del (n.4491+9_4491+11del) c.4482+9_4482+11del (n.4482+9_4482+11del) | gnomAD v4 |
5 | g.37038748G>A | CA3236921 | NIPBL | c.6108+10G>A (n.6108+10G>A) c.1-25830G>A (n.1-25830G>A) c.5364+10G>A (n.5364+10G>A) c.5910+10G>A (n.5910+10G>A) c.5727+10G>A (n.5727+10G>A) c.5448+10G>A (n.5448+10G>A) c.4491+10G>A (n.4491+10G>A) c.4482+10G>A (n.4482+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038748G= | CA1539611612 | NIPBL | c.6108+10G= (n.6108+10G=) c.1-25830G= (n.1-25830G=) c.5364+10G= (n.5364+10G=) c.5910+10G= (n.5910+10G=) c.5727+10G= (n.5727+10G=) c.5448+10G= (n.5448+10G=) c.4491+10G= (n.4491+10G=) c.4482+10G= (n.4482+10G=) | |
5 | g.37038748G>T | CA2673577290 | NIPBL | c.6108+10G>T (n.6108+10G>T) c.1-25830G>T (n.1-25830G>T) c.5364+10G>T (n.5364+10G>T) c.5910+10G>T (n.5910+10G>T) c.5727+10G>T (n.5727+10G>T) c.5448+10G>T (n.5448+10G>T) c.4491+10G>T (n.4491+10G>T) c.4482+10G>T (n.4482+10G>T) | gnomAD v4 |
5 | g.37038749A= | CA1539611613 | NIPBL | c.6108+11A= (n.6108+11A=) c.1-25829A= (n.1-25829A=) c.5364+11A= (n.5364+11A=) c.5910+11A= (n.5910+11A=) c.5727+11A= (n.5727+11A=) c.5448+11A= (n.5448+11A=) c.4491+11A= (n.4491+11A=) c.4482+11A= (n.4482+11A=) | |
5 | g.37038749A>C | CA1539611614 | NIPBL | c.6108+11A>C (n.6108+11A>C) c.1-25829A>C (n.1-25829A>C) c.5364+11A>C (n.5364+11A>C) c.5910+11A>C (n.5910+11A>C) c.5727+11A>C (n.5727+11A>C) c.5448+11A>C (n.5448+11A>C) c.4491+11A>C (n.4491+11A>C) c.4482+11A>C (n.4482+11A>C) | dbSNP |
5 | g.37038751C= | CA1539611615 | NIPBL | c.6108+13C= (n.6108+13C=) c.1-25827C= (n.1-25827C=) c.5364+13C= (n.5364+13C=) c.5910+13C= (n.5910+13C=) c.5727+13C= (n.5727+13C=) c.5448+13C= (n.5448+13C=) c.4491+13C= (n.4491+13C=) c.4482+13C= (n.4482+13C=) | |
5 | g.37038751C>G | CA117038421 | NIPBL | c.6108+13C>G (n.6108+13C>G) c.1-25827C>G (n.1-25827C>G) c.5364+13C>G (n.5364+13C>G) c.5910+13C>G (n.5910+13C>G) c.5727+13C>G (n.5727+13C>G) c.5448+13C>G (n.5448+13C>G) c.4491+13C>G (n.4491+13C>G) c.4482+13C>G (n.4482+13C>G) | dbSNP gnomAD v4 |
5 | g.37038751C>T | CA2739274672 | NIPBL | c.6108+13C>T (n.6108+13C>T) c.1-25827C>T (n.1-25827C>T) c.5364+13C>T (n.5364+13C>T) c.5910+13C>T (n.5910+13C>T) c.5727+13C>T (n.5727+13C>T) c.5448+13C>T (n.5448+13C>T) c.4491+13C>T (n.4491+13C>T) c.4482+13C>T (n.4482+13C>T) | ClinVar |
5 | g.37038752T>C | CA2765910648 | NIPBL | c.6108+14T>C (n.6108+14T>C) c.1-25826T>C (n.1-25826T>C) c.5364+14T>C (n.5364+14T>C) c.5910+14T>C (n.5910+14T>C) c.5727+14T>C (n.5727+14T>C) c.5448+14T>C (n.5448+14T>C) c.4491+14T>C (n.4491+14T>C) c.4482+14T>C (n.4482+14T>C) | |
5 | g.37038753G>A | CA1539611620 | NIPBL | c.6108+15G>A (n.6108+15G>A) c.1-25825G>A (n.1-25825G>A) c.5364+15G>A (n.5364+15G>A) c.5910+15G>A (n.5910+15G>A) c.5727+15G>A (n.5727+15G>A) c.5448+15G>A (n.5448+15G>A) c.4491+15G>A (n.4491+15G>A) c.4482+15G>A (n.4482+15G>A) | dbSNP |
5 | g.37038753G= | CA1539611619 | NIPBL | c.6108+15G= (n.6108+15G=) c.1-25825G= (n.1-25825G=) c.5364+15G= (n.5364+15G=) c.5910+15G= (n.5910+15G=) c.5727+15G= (n.5727+15G=) c.5448+15G= (n.5448+15G=) c.4491+15G= (n.4491+15G=) c.4482+15G= (n.4482+15G=) | |
5 | g.37038753G>T | CA2673577296 | NIPBL | c.6108+15G>T (n.6108+15G>T) c.1-25825G>T (n.1-25825G>T) c.5364+15G>T (n.5364+15G>T) c.5910+15G>T (n.5910+15G>T) c.5727+15G>T (n.5727+15G>T) c.5448+15G>T (n.5448+15G>T) c.4491+15G>T (n.4491+15G>T) c.4482+15G>T (n.4482+15G>T) | gnomAD v4 |
5 | g.37038756T>C | CA2503333719 | NIPBL | c.6108+18T>C (n.6108+18T>C) c.1-25822T>C (n.1-25822T>C) c.5364+18T>C (n.5364+18T>C) c.5910+18T>C (n.5910+18T>C) c.5727+18T>C (n.5727+18T>C) c.5448+18T>C (n.5448+18T>C) c.4491+18T>C (n.4491+18T>C) c.4482+18T>C (n.4482+18T>C) | |
5 | g.37038758A= | CA1539611621 | NIPBL | c.6108+20A= (n.6108+20A=) c.1-25820A= (n.1-25820A=) c.5364+20A= (n.5364+20A=) c.5910+20A= (n.5910+20A=) c.5727+20A= (n.5727+20A=) c.5448+20A= (n.5448+20A=) c.4491+20A= (n.4491+20A=) c.4482+20A= (n.4482+20A=) | |
5 | g.37038758A>G | CA559020429 | NIPBL | c.6108+20A>G (n.6108+20A>G) c.1-25820A>G (n.1-25820A>G) c.5364+20A>G (n.5364+20A>G) c.5910+20A>G (n.5910+20A>G) c.5727+20A>G (n.5727+20A>G) c.5448+20A>G (n.5448+20A>G) c.4491+20A>G (n.4491+20A>G) c.4482+20A>G (n.4482+20A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038764_37038770del | CA2673577297 | NIPBL | c.6108+26_6108+32del (n.6108+26_6108+32del) c.1-25814_1-25808del (n.1-25814_1-25808del) c.5364+26_5364+32del (n.5364+26_5364+32del) c.5910+26_5910+32del (n.5910+26_5910+32del) c.5727+26_5727+32del (n.5727+26_5727+32del) c.5448+26_5448+32del (n.5448+26_5448+32del) c.4491+26_4491+32del (n.4491+26_4491+32del) c.4482+26_4482+32del (n.4482+26_4482+32del) | gnomAD v4 |
5 | g.37038761C= | CA1539611624 | NIPBL | c.6108+23C= (n.6108+23C=) c.1-25817C= (n.1-25817C=) c.5364+23C= (n.5364+23C=) c.5910+23C= (n.5910+23C=) c.5727+23C= (n.5727+23C=) c.5448+23C= (n.5448+23C=) c.4491+23C= (n.4491+23C=) c.4482+23C= (n.4482+23C=) | |
5 | g.37038761C>G | CA2673577298 | NIPBL | c.6108+23C>G (n.6108+23C>G) c.1-25817C>G (n.1-25817C>G) c.5364+23C>G (n.5364+23C>G) c.5910+23C>G (n.5910+23C>G) c.5727+23C>G (n.5727+23C>G) c.5448+23C>G (n.5448+23C>G) c.4491+23C>G (n.4491+23C>G) c.4482+23C>G (n.4482+23C>G) | gnomAD v4 |
5 | g.37038761C>T | CA559020430 | NIPBL | c.6108+23C>T (n.6108+23C>T) c.1-25817C>T (n.1-25817C>T) c.5364+23C>T (n.5364+23C>T) c.5910+23C>T (n.5910+23C>T) c.5727+23C>T (n.5727+23C>T) c.5448+23C>T (n.5448+23C>T) c.4491+23C>T (n.4491+23C>T) c.4482+23C>T (n.4482+23C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038764G>A | CA559020432 | NIPBL | c.6108+26G>A (n.6108+26G>A) c.1-25814G>A (n.1-25814G>A) c.5364+26G>A (n.5364+26G>A) c.5910+26G>A (n.5910+26G>A) c.5727+26G>A (n.5727+26G>A) c.5448+26G>A (n.5448+26G>A) c.4491+26G>A (n.4491+26G>A) c.4482+26G>A (n.4482+26G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038764G>C | CA3236922 | NIPBL | c.6108+26G>C (n.6108+26G>C) c.1-25814G>C (n.1-25814G>C) c.5364+26G>C (n.5364+26G>C) c.5910+26G>C (n.5910+26G>C) c.5727+26G>C (n.5727+26G>C) c.5448+26G>C (n.5448+26G>C) c.4491+26G>C (n.4491+26G>C) c.4482+26G>C (n.4482+26G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038764G= | CA1539611627 | NIPBL | c.6108+26G= (n.6108+26G=) c.1-25814G= (n.1-25814G=) c.5364+26G= (n.5364+26G=) c.5910+26G= (n.5910+26G=) c.5727+26G= (n.5727+26G=) c.5448+26G= (n.5448+26G=) c.4491+26G= (n.4491+26G=) c.4482+26G= (n.4482+26G=) | |
5 | g.37038766A= | CA1539611630 | NIPBL | c.6108+28A= (n.6108+28A=) c.1-25812A= (n.1-25812A=) c.5364+28A= (n.5364+28A=) c.5910+28A= (n.5910+28A=) c.5727+28A= (n.5727+28A=) c.5448+28A= (n.5448+28A=) c.4491+28A= (n.4491+28A=) c.4482+28A= (n.4482+28A=) | |
5 | g.37038766A>C | CA2516395429 | NIPBL | c.6108+28A>C (n.6108+28A>C) c.1-25812A>C (n.1-25812A>C) c.5364+28A>C (n.5364+28A>C) c.5910+28A>C (n.5910+28A>C) c.5727+28A>C (n.5727+28A>C) c.5448+28A>C (n.5448+28A>C) c.4491+28A>C (n.4491+28A>C) c.4482+28A>C (n.4482+28A>C) | |
5 | g.37038766A>G | CA2578289659 | NIPBL | c.6108+28A>G (n.6108+28A>G) c.1-25812A>G (n.1-25812A>G) c.5364+28A>G (n.5364+28A>G) c.5910+28A>G (n.5910+28A>G) c.5727+28A>G (n.5727+28A>G) c.5448+28A>G (n.5448+28A>G) c.4491+28A>G (n.4491+28A>G) c.4482+28A>G (n.4482+28A>G) | gnomAD v4 |
5 | g.37038766A>T | CA3236923 | NIPBL | c.6108+28A>T (n.6108+28A>T) c.1-25812A>T (n.1-25812A>T) c.5364+28A>T (n.5364+28A>T) c.5910+28A>T (n.5910+28A>T) c.5727+28A>T (n.5727+28A>T) c.5448+28A>T (n.5448+28A>T) c.4491+28A>T (n.4491+28A>T) c.4482+28A>T (n.4482+28A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038767T>C | CA2578289663 | NIPBL | c.6108+29T>C (n.6108+29T>C) c.1-25811T>C (n.1-25811T>C) c.5364+29T>C (n.5364+29T>C) c.5910+29T>C (n.5910+29T>C) c.5727+29T>C (n.5727+29T>C) c.5448+29T>C (n.5448+29T>C) c.4491+29T>C (n.4491+29T>C) c.4482+29T>C (n.4482+29T>C) | gnomAD v4 |
5 | g.37038767T>G | CA3236924 | NIPBL | c.6108+29T>G (n.6108+29T>G) c.1-25811T>G (n.1-25811T>G) c.5364+29T>G (n.5364+29T>G) c.5910+29T>G (n.5910+29T>G) c.5727+29T>G (n.5727+29T>G) c.5448+29T>G (n.5448+29T>G) c.4491+29T>G (n.4491+29T>G) c.4482+29T>G (n.4482+29T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37038767T= | CA1539611631 | NIPBL | c.6108+29T= (n.6108+29T=) c.1-25811T= (n.1-25811T=) c.5364+29T= (n.5364+29T=) c.5910+29T= (n.5910+29T=) c.5727+29T= (n.5727+29T=) c.5448+29T= (n.5448+29T=) c.4491+29T= (n.4491+29T=) c.4482+29T= (n.4482+29T=) | |
5 | g.37038768C>A | CA2673577299 | NIPBL | c.6108+30C>A (n.6108+30C>A) c.1-25810C>A (n.1-25810C>A) c.5364+30C>A (n.5364+30C>A) c.5910+30C>A (n.5910+30C>A) c.5727+30C>A (n.5727+30C>A) c.5448+30C>A (n.5448+30C>A) c.4491+30C>A (n.4491+30C>A) c.4482+30C>A (n.4482+30C>A) | gnomAD v4 |
5 | g.37038768C= | CA1539611634 | NIPBL | c.6108+30C= (n.6108+30C=) c.1-25810C= (n.1-25810C=) c.5364+30C= (n.5364+30C=) c.5910+30C= (n.5910+30C=) c.5727+30C= (n.5727+30C=) c.5448+30C= (n.5448+30C=) c.4491+30C= (n.4491+30C=) c.4482+30C= (n.4482+30C=) | |
5 | g.37038768C>G | CA3236925 | NIPBL | c.6108+30C>G (n.6108+30C>G) c.1-25810C>G (n.1-25810C>G) c.5364+30C>G (n.5364+30C>G) c.5910+30C>G (n.5910+30C>G) c.5727+30C>G (n.5727+30C>G) c.5448+30C>G (n.5448+30C>G) c.4491+30C>G (n.4491+30C>G) c.4482+30C>G (n.4482+30C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038768C>T | CA559020434 | NIPBL | c.6108+30C>T (n.6108+30C>T) c.1-25810C>T (n.1-25810C>T) c.5364+30C>T (n.5364+30C>T) c.5910+30C>T (n.5910+30C>T) c.5727+30C>T (n.5727+30C>T) c.5448+30C>T (n.5448+30C>T) c.4491+30C>T (n.4491+30C>T) c.4482+30C>T (n.4482+30C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038770T>C | CA3236926 | NIPBL | c.6108+32T>C (n.6108+32T>C) c.1-25808T>C (n.1-25808T>C) c.5364+32T>C (n.5364+32T>C) c.5910+32T>C (n.5910+32T>C) c.5727+32T>C (n.5727+32T>C) c.5448+32T>C (n.5448+32T>C) c.4491+32T>C (n.4491+32T>C) c.4482+32T>C (n.4482+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038770T= | CA1539611638 | NIPBL | c.6108+32T= (n.6108+32T=) c.1-25808T= (n.1-25808T=) c.5364+32T= (n.5364+32T=) c.5910+32T= (n.5910+32T=) c.5727+32T= (n.5727+32T=) c.5448+32T= (n.5448+32T=) c.4491+32T= (n.4491+32T=) c.4482+32T= (n.4482+32T=) | |
5 | g.37038774T>A | CA2673577300 | NIPBL | c.6108+36T>A (n.6108+36T>A) c.1-25804T>A (n.1-25804T>A) c.5364+36T>A (n.5364+36T>A) c.5910+36T>A (n.5910+36T>A) c.5727+36T>A (n.5727+36T>A) c.5448+36T>A (n.5448+36T>A) c.4491+36T>A (n.4491+36T>A) c.4482+36T>A (n.4482+36T>A) | gnomAD v4 |
5 | g.37038774T>C | CA559020437 | NIPBL | c.6108+36T>C (n.6108+36T>C) c.1-25804T>C (n.1-25804T>C) c.5364+36T>C (n.5364+36T>C) c.5910+36T>C (n.5910+36T>C) c.5727+36T>C (n.5727+36T>C) c.5448+36T>C (n.5448+36T>C) c.4491+36T>C (n.4491+36T>C) c.4482+36T>C (n.4482+36T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038774T= | CA1539611640 | NIPBL | c.6108+36T= (n.6108+36T=) c.1-25804T= (n.1-25804T=) c.5364+36T= (n.5364+36T=) c.5910+36T= (n.5910+36T=) c.5727+36T= (n.5727+36T=) c.5448+36T= (n.5448+36T=) c.4491+36T= (n.4491+36T=) c.4482+36T= (n.4482+36T=) | |
5 | g.37038779C= | CA1539611642 | NIPBL | c.6108+41C= (n.6108+41C=) c.1-25799C= (n.1-25799C=) c.5364+41C= (n.5364+41C=) c.5910+41C= (n.5910+41C=) c.5727+41C= (n.5727+41C=) c.5448+41C= (n.5448+41C=) c.4491+41C= (n.4491+41C=) c.4482+41C= (n.4482+41C=) | |
5 | g.37038779C>G | CA3236927 | NIPBL | c.6108+41C>G (n.6108+41C>G) c.1-25799C>G (n.1-25799C>G) c.5364+41C>G (n.5364+41C>G) c.5910+41C>G (n.5910+41C>G) c.5727+41C>G (n.5727+41C>G) c.5448+41C>G (n.5448+41C>G) c.4491+41C>G (n.4491+41C>G) c.4482+41C>G (n.4482+41C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038779C>T | CA2673577301 | NIPBL | c.6108+41C>T (n.6108+41C>T) c.1-25799C>T (n.1-25799C>T) c.5364+41C>T (n.5364+41C>T) c.5910+41C>T (n.5910+41C>T) c.5727+41C>T (n.5727+41C>T) c.5448+41C>T (n.5448+41C>T) c.4491+41C>T (n.4491+41C>T) c.4482+41C>T (n.4482+41C>T) | gnomAD v4 |
5 | g.37038780A>C | CA2578289666 | NIPBL | c.6108+42A>C (n.6108+42A>C) c.1-25798A>C (n.1-25798A>C) c.5364+42A>C (n.5364+42A>C) c.5910+42A>C (n.5910+42A>C) c.5727+42A>C (n.5727+42A>C) c.5448+42A>C (n.5448+42A>C) c.4491+42A>C (n.4491+42A>C) c.4482+42A>C (n.4482+42A>C) | |
5 | g.37038782dup | CA2578289668 | NIPBL | c.6108+44dup (n.6108+44dup) c.1-25796dup (n.1-25796dup) c.5364+44dup (n.5364+44dup) c.5910+44dup (n.5910+44dup) c.5727+44dup (n.5727+44dup) c.5448+44dup (n.5448+44dup) c.4491+44dup (n.4491+44dup) c.4482+44dup (n.4482+44dup) | |
5 | g.37038782T>C | CA559020438 | NIPBL | c.6108+44T>C (n.6108+44T>C) c.1-25796T>C (n.1-25796T>C) c.5364+44T>C (n.5364+44T>C) c.5910+44T>C (n.5910+44T>C) c.5727+44T>C (n.5727+44T>C) c.5448+44T>C (n.5448+44T>C) c.4491+44T>C (n.4491+44T>C) c.4482+44T>C (n.4482+44T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038782T>G | CA3236928 | NIPBL | c.6108+44T>G (n.6108+44T>G) c.1-25796T>G (n.1-25796T>G) c.5364+44T>G (n.5364+44T>G) c.5910+44T>G (n.5910+44T>G) c.5727+44T>G (n.5727+44T>G) c.5448+44T>G (n.5448+44T>G) c.4491+44T>G (n.4491+44T>G) c.4482+44T>G (n.4482+44T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37038782T= | CA1539611644 | NIPBL | c.6108+44T= (n.6108+44T=) c.1-25796T= (n.1-25796T=) c.5364+44T= (n.5364+44T=) c.5910+44T= (n.5910+44T=) c.5727+44T= (n.5727+44T=) c.5448+44T= (n.5448+44T=) c.4491+44T= (n.4491+44T=) c.4482+44T= (n.4482+44T=) | |
5 | g.37038783A= | CA1539611645 | NIPBL | c.6108+45A= (n.6108+45A=) c.1-25795A= (n.1-25795A=) c.5364+45A= (n.5364+45A=) c.5910+45A= (n.5910+45A=) c.5727+45A= (n.5727+45A=) c.5448+45A= (n.5448+45A=) c.4491+45A= (n.4491+45A=) c.4482+45A= (n.4482+45A=) | |
5 | g.37038783A>C | CA3236929 | NIPBL | c.6108+45A>C (n.6108+45A>C) c.1-25795A>C (n.1-25795A>C) c.5364+45A>C (n.5364+45A>C) c.5910+45A>C (n.5910+45A>C) c.5727+45A>C (n.5727+45A>C) c.5448+45A>C (n.5448+45A>C) c.4491+45A>C (n.4491+45A>C) c.4482+45A>C (n.4482+45A>C) | dbSNP ExAC gnomAD v4 |
5 | g.37038786T>C | CA559020439 | NIPBL | c.6108+48T>C (n.6108+48T>C) c.1-25792T>C (n.1-25792T>C) c.5364+48T>C (n.5364+48T>C) c.5910+48T>C (n.5910+48T>C) c.5727+48T>C (n.5727+48T>C) c.5448+48T>C (n.5448+48T>C) c.4491+48T>C (n.4491+48T>C) c.4482+48T>C (n.4482+48T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038786T= | CA1539611646 | NIPBL | c.6108+48T= (n.6108+48T=) c.1-25792T= (n.1-25792T=) c.5364+48T= (n.5364+48T=) c.5910+48T= (n.5910+48T=) c.5727+48T= (n.5727+48T=) c.5448+48T= (n.5448+48T=) c.4491+48T= (n.4491+48T=) c.4482+48T= (n.4482+48T=) | |
5 | g.37038787G>A | CA559020440 | NIPBL | c.6108+49G>A (n.6108+49G>A) c.1-25791G>A (n.1-25791G>A) c.5364+49G>A (n.5364+49G>A) c.5910+49G>A (n.5910+49G>A) c.5727+49G>A (n.5727+49G>A) c.5448+49G>A (n.5448+49G>A) c.4491+49G>A (n.4491+49G>A) c.4482+49G>A (n.4482+49G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37038787G= | CA1539611648 | NIPBL | c.6108+49G= (n.6108+49G=) c.1-25791G= (n.1-25791G=) c.5364+49G= (n.5364+49G=) c.5910+49G= (n.5910+49G=) c.5727+49G= (n.5727+49G=) c.5448+49G= (n.5448+49G=) c.4491+49G= (n.4491+49G=) c.4482+49G= (n.4482+49G=) | |
5 | g.37038788C>G | CA2673577303 | NIPBL | c.6108+50C>G (n.6108+50C>G) c.1-25790C>G (n.1-25790C>G) c.5364+50C>G (n.5364+50C>G) c.5910+50C>G (n.5910+50C>G) c.5727+50C>G (n.5727+50C>G) c.5448+50C>G (n.5448+50C>G) c.4491+50C>G (n.4491+50C>G) c.4482+50C>G (n.4482+50C>G) | gnomAD v4 |
5 | g.37038788_37038794delinsCTTTAAA | CA1539611649 | NIPBL | c.6108+50_6108+56delinsCTTTAAA (n.6108+50_6108+56delinsCTTTAAA) c.1-25790_1-25784delinsCTTTAAA (n.1-25790_1-25784delinsCTTTAAA) c.5364+50_5364+56delinsCTTTAAA (n.5364+50_5364+56delinsCTTTAAA) c.5910+50_5910+56delinsCTTTAAA (n.5910+50_5910+56delinsCTTTAAA) c.5727+50_5727+56delinsCTTTAAA (n.5727+50_5727+56delinsCTTTAAA) c.5448+50_5448+56delinsCTTTAAA (n.5448+50_5448+56delinsCTTTAAA) c.4491+50_4491+56delinsCTTTAAA (n.4491+50_4491+56delinsCTTTAAA) c.4482+50_4482+56delinsCTTTAAA (n.4482+50_4482+56delinsCTTTAAA) | |
5 | g.37038789T>C | CA559020441 | NIPBL | c.6108+51T>C (n.6108+51T>C) c.1-25789T>C (n.1-25789T>C) c.5364+51T>C (n.5364+51T>C) c.5910+51T>C (n.5910+51T>C) c.5727+51T>C (n.5727+51T>C) c.5448+51T>C (n.5448+51T>C) c.4491+51T>C (n.4491+51T>C) c.4482+51T>C (n.4482+51T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37038789T= | CA1539611651 | NIPBL | c.6108+51T= (n.6108+51T=) c.1-25789T= (n.1-25789T=) c.5364+51T= (n.5364+51T=) c.5910+51T= (n.5910+51T=) c.5727+51T= (n.5727+51T=) c.5448+51T= (n.5448+51T=) c.4491+51T= (n.4491+51T=) c.4482+51T= (n.4482+51T=) | |
5 | g.37038793_37038798del | CA3236930 | NIPBL | c.6108+55_6108+60del (n.6108+55_6108+60del) c.1-25785_1-25780del (n.1-25785_1-25780del) c.5364+55_5364+60del (n.5364+55_5364+60del) c.5910+55_5910+60del (n.5910+55_5910+60del) c.5727+55_5727+60del (n.5727+55_5727+60del) c.5448+55_5448+60del (n.5448+55_5448+60del) c.4491+55_4491+60del (n.4491+55_4491+60del) c.4482+55_4482+60del (n.4482+55_4482+60del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37038791T>C | CA2673577304 | NIPBL | c.6108+53T>C (n.6108+53T>C) c.1-25787T>C (n.1-25787T>C) c.5364+53T>C (n.5364+53T>C) c.5910+53T>C (n.5910+53T>C) c.5727+53T>C (n.5727+53T>C) c.5448+53T>C (n.5448+53T>C) c.4491+53T>C (n.4491+53T>C) c.4482+53T>C (n.4482+53T>C) | gnomAD v4 |
5 | g.37038796T>G | CA1075114000 | NIPBL | c.6108+58T>G (n.6108+58T>G) c.1-25782T>G (n.1-25782T>G) c.5364+58T>G (n.5364+58T>G) c.5910+58T>G (n.5910+58T>G) c.5727+58T>G (n.5727+58T>G) c.5448+58T>G (n.5448+58T>G) c.4491+58T>G (n.4491+58T>G) c.4482+58T>G (n.4482+58T>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37038796T= | CA1539611654 | NIPBL | c.6108+58T= (n.6108+58T=) c.1-25782T= (n.1-25782T=) c.5364+58T= (n.5364+58T=) c.5910+58T= (n.5910+58T=) c.5727+58T= (n.5727+58T=) c.5448+58T= (n.5448+58T=) c.4491+58T= (n.4491+58T=) c.4482+58T= (n.4482+58T=) | |
5 | g.37038799G>A | CA2673577305 | NIPBL | c.6108+61G>A (n.6108+61G>A) c.1-25779G>A (n.1-25779G>A) c.5364+61G>A (n.5364+61G>A) c.5910+61G>A (n.5910+61G>A) c.5727+61G>A (n.5727+61G>A) c.5448+61G>A (n.5448+61G>A) c.4491+61G>A (n.4491+61G>A) c.4482+61G>A (n.4482+61G>A) | gnomAD v4 |