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 |
|---|---|---|---|---|---|
| 1 | g.207587428C>A | CA344540704 | CR1 | c.5573C>A (p.Thr1858Lys) c.4223C>A (p.Thr1408Lys) c.1179+21505C>A c.*1338C>A (n.*1338C>A) c.5588C>A (p.Thr1863Lys) c.4238C>A (p.Thr1413Lys) | |
| 1 | g.207587428C= | CA1139991046 | CR1 | c.5573C= (p.Thr1858=) c.4223C= (p.Thr1408=) c.1179+21505C= c.*1338C= (n.*1338C=) c.5588C= (p.Thr1863=) c.4238C= (p.Thr1413=) | |
| 1 | g.207587428C>G | CA344540706 | CR1 | c.5573C>G (p.Thr1858Arg) c.4223C>G (p.Thr1408Arg) c.1179+21505C>G c.*1338C>G (n.*1338C>G) c.5588C>G (p.Thr1863Arg) c.4238C>G (p.Thr1413Arg) | gnomAD v4 |
| 1 | g.207587428C>T | CA1370209 | CR1 | c.5573C>T (p.Thr1858Met) c.4223C>T (p.Thr1408Met) c.1179+21505C>T c.*1338C>T (n.*1338C>T) c.5588C>T (p.Thr1863Met) c.4238C>T (p.Thr1413Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587429G>A | CA1370210 | CR1 | c.5574G>A (p.Thr1858=) c.4224G>A (p.Thr1408=) c.1179+21506G>A c.*1339G>A (n.*1339G>A) c.5589G>A (p.Thr1863=) c.4239G>A (p.Thr1413=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.207587429G>C | CA1370211 | CR1 | c.5574G>C (p.Thr1858=) c.4224G>C (p.Thr1408=) c.1179+21506G>C c.*1339G>C (n.*1339G>C) c.5589G>C (p.Thr1863=) c.4239G>C (p.Thr1413=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587429G= | CA1143516588 | CR1 | c.5574G= (p.Thr1858=) c.4224G= (p.Thr1408=) c.1179+21506G= c.*1339G= (n.*1339G=) c.5589G= (p.Thr1863=) c.4239G= (p.Thr1413=) | |
| 1 | g.207587429G>T | CA422967235 | CR1 | c.5574G>T (p.Thr1858=) c.4224G>T (p.Thr1408=) c.1179+21506G>T c.*1339G>T (n.*1339G>T) c.5589G>T (p.Thr1863=) c.4239G>T (p.Thr1413=) | |
| 1 | g.207587430A= | CA2483446744 | CR1 | c.5575A= (p.Ile1859=) c.4225A= (p.Ile1409=) c.1179+21507A= c.*1340A= (n.*1340A=) c.5590A= (p.Ile1864=) c.4240A= (p.Ile1414=) | |
| 1 | g.207587430A>C | CA344540710 | CR1 | c.5575A>C (p.Ile1859Leu) c.4225A>C (p.Ile1409Leu) c.1179+21507A>C c.*1340A>C (n.*1340A>C) c.5590A>C (p.Ile1864Leu) c.4240A>C (p.Ile1414Leu) | |
| 1 | g.207587430A>G | CA1370212 | CR1 | c.5575A>G (p.Ile1859Val) c.4225A>G (p.Ile1409Val) c.1179+21507A>G c.*1340A>G (n.*1340A>G) c.5590A>G (p.Ile1864Val) c.4240A>G (p.Ile1414Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207587430A>T | CA344540712 | CR1 | c.5575A>T (p.Ile1859Phe) c.4225A>T (p.Ile1409Phe) c.1179+21507A>T c.*1340A>T (n.*1340A>T) c.5590A>T (p.Ile1864Phe) c.4240A>T (p.Ile1414Phe) | gnomAD v4 |
| 1 | g.207587431T>A | CA344540718 | CR1 | c.5576T>A (p.Ile1859Asn) c.4226T>A (p.Ile1409Asn) c.1179+21508T>A c.*1341T>A (n.*1341T>A) c.5591T>A (p.Ile1864Asn) c.4241T>A (p.Ile1414Asn) | |
| 1 | g.207587431T>C | CA344540716 | CR1 | c.5576T>C (p.Ile1859Thr) c.4226T>C (p.Ile1409Thr) c.1179+21508T>C c.*1341T>C (n.*1341T>C) c.5591T>C (p.Ile1864Thr) c.4241T>C (p.Ile1414Thr) | gnomAD v4 |
| 1 | g.207587431T>G | CA344540714 | CR1 | c.5576T>G (p.Ile1859Ser) c.4226T>G (p.Ile1409Ser) c.1179+21508T>G c.*1341T>G (n.*1341T>G) c.5591T>G (p.Ile1864Ser) c.4241T>G (p.Ile1414Ser) | |
| 1 | g.207587432C>A | CA422967239 | CR1 | c.5577C>A (p.Ile1859=) c.4227C>A (p.Ile1409=) c.1179+21509C>A c.*1342C>A (n.*1342C>A) c.5592C>A (p.Ile1864=) c.4242C>A (p.Ile1414=) | dbSNP gnomAD v2 |
| 1 | g.207587432C= | CA2483446745 | CR1 | c.5577C= (p.Ile1859=) c.4227C= (p.Ile1409=) c.1179+21509C= c.*1342C= (n.*1342C=) c.5592C= (p.Ile1864=) c.4242C= (p.Ile1414=) | |
| 1 | g.207587432C>G | CA344540720 | CR1 | c.5577C>G (p.Ile1859Met) c.4227C>G (p.Ile1409Met) c.1179+21509C>G c.*1342C>G (n.*1342C>G) c.5592C>G (p.Ile1864Met) c.4242C>G (p.Ile1414Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207587432C>T | CA422967240 | CR1 | c.5577C>T (p.Ile1859=) c.4227C>T (p.Ile1409=) c.1179+21509C>T c.*1342C>T (n.*1342C>T) c.5592C>T (p.Ile1864=) c.4242C>T (p.Ile1414=) | gnomAD v4 |
| 1 | g.207587433C>A | CA344540721 | CR1 | c.5578C>A (p.Pro1860Thr) c.4228C>A (p.Pro1410Thr) c.1179+21510C>A c.*1343C>A (n.*1343C>A) c.5593C>A (p.Pro1865Thr) c.4243C>A (p.Pro1415Thr) | |
| 1 | g.207587433C>G | CA344540722 | CR1 | c.5578C>G (p.Pro1860Ala) c.4228C>G (p.Pro1410Ala) c.1179+21510C>G c.*1343C>G (n.*1343C>G) c.5593C>G (p.Pro1865Ala) c.4243C>G (p.Pro1415Ala) | |
| 1 | g.207587433C>T | CA344540724 | CR1 | c.5578C>T (p.Pro1860Ser) c.4228C>T (p.Pro1410Ser) c.1179+21510C>T c.*1343C>T (n.*1343C>T) c.5593C>T (p.Pro1865Ser) c.4243C>T (p.Pro1415Ser) | |
| 1 | g.207587434C>A | CA344540726 | CR1 | c.5579C>A (p.Pro1860Gln) c.4229C>A (p.Pro1410Gln) c.1179+21511C>A c.*1344C>A (n.*1344C>A) c.5594C>A (p.Pro1865Gln) c.4244C>A (p.Pro1415Gln) | gnomAD v4 |
| 1 | g.207587434C>G | CA344540728 | CR1 | c.5579C>G (p.Pro1860Arg) c.4229C>G (p.Pro1410Arg) c.1179+21511C>G c.*1344C>G (n.*1344C>G) c.5594C>G (p.Pro1865Arg) c.4244C>G (p.Pro1415Arg) | |
| 1 | g.207587434C>T | CA344540730 | CR1 | c.5579C>T (p.Pro1860Leu) c.4229C>T (p.Pro1410Leu) c.1179+21511C>T c.*1344C>T (n.*1344C>T) c.5594C>T (p.Pro1865Leu) c.4244C>T (p.Pro1415Leu) | gnomAD v4 |
| 1 | g.207587435A= | CA2483446746 | CR1 | c.5580A= (p.Pro1860=) c.4230A= (p.Pro1410=) c.1179+21512A= c.*1345A= (n.*1345A=) c.5595A= (p.Pro1865=) c.4245A= (p.Pro1415=) | |
| 1 | g.207587435A>C | CA422967243 | CR1 | c.5580A>C (p.Pro1860=) c.4230A>C (p.Pro1410=) c.1179+21512A>C c.*1345A>C (n.*1345A>C) c.5595A>C (p.Pro1865=) c.4245A>C (p.Pro1415=) | dbSNP |
| 1 | g.207587435A>G | CA422967244 | CR1 | c.5580A>G (p.Pro1860=) c.4230A>G (p.Pro1410=) c.1179+21512A>G c.*1345A>G (n.*1345A>G) c.5595A>G (p.Pro1865=) c.4245A>G (p.Pro1415=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207587435A>T | CA422967246 | CR1 | c.5580A>T (p.Pro1860=) c.4230A>T (p.Pro1410=) c.1179+21512A>T c.*1345A>T (n.*1345A>T) c.5595A>T (p.Pro1865=) c.4245A>T (p.Pro1415=) | |
| 1 | g.207587436A= | CA2483446747 | CR1 | c.5581A= (p.Ile1861=) c.4231A= (p.Ile1411=) c.1179+21513A= c.*1346A= (n.*1346A=) c.5596A= (p.Ile1866=) c.4246A= (p.Ile1416=) | |
| 1 | g.207587436A>C | CA344540732 | CR1 | c.5581A>C (p.Ile1861Leu) c.4231A>C (p.Ile1411Leu) c.1179+21513A>C c.*1346A>C (n.*1346A>C) c.5596A>C (p.Ile1866Leu) c.4246A>C (p.Ile1416Leu) | |
| 1 | g.207587436A>G | CA1370213 | CR1 | c.5581A>G (p.Ile1861Val) c.4231A>G (p.Ile1411Val) c.1179+21513A>G c.*1346A>G (n.*1346A>G) c.5596A>G (p.Ile1866Val) c.4246A>G (p.Ile1416Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207587436A>T | CA344540735 | CR1 | c.5581A>T (p.Ile1861Phe) c.4231A>T (p.Ile1411Phe) c.1179+21513A>T c.*1346A>T (n.*1346A>T) c.5596A>T (p.Ile1866Phe) c.4246A>T (p.Ile1416Phe) | |
| 1 | g.207587437T>A | CA344540736 | CR1 | c.5582T>A (p.Ile1861Asn) c.4232T>A (p.Ile1411Asn) c.1179+21514T>A c.*1347T>A (n.*1347T>A) c.5597T>A (p.Ile1866Asn) c.4247T>A (p.Ile1416Asn) | gnomAD v4 |
| 1 | g.207587437T>C | CA344540737 | CR1 | c.5582T>C (p.Ile1861Thr) c.4232T>C (p.Ile1411Thr) c.1179+21514T>C c.*1347T>C (n.*1347T>C) c.5597T>C (p.Ile1866Thr) c.4247T>C (p.Ile1416Thr) | |
| 1 | g.207587437T>G | CA344540738 | CR1 | c.5582T>G (p.Ile1861Ser) c.4232T>G (p.Ile1411Ser) c.1179+21514T>G c.*1347T>G (n.*1347T>G) c.5597T>G (p.Ile1866Ser) c.4247T>G (p.Ile1416Ser) | |
| 1 | g.207587438T>A | CA422967250 | CR1 | c.5583T>A (p.Ile1861=) c.4233T>A (p.Ile1411=) c.1179+21515T>A c.*1348T>A (n.*1348T>A) c.5598T>A (p.Ile1866=) c.4248T>A (p.Ile1416=) | |
| 1 | g.207587438T>C | CA422967249 | CR1 | c.5583T>C (p.Ile1861=) c.4233T>C (p.Ile1411=) c.1179+21515T>C c.*1348T>C (n.*1348T>C) c.5598T>C (p.Ile1866=) c.4248T>C (p.Ile1416=) | |
| 1 | g.207587438T>G | CA344540740 | CR1 | c.5583T>G (p.Ile1861Met) c.4233T>G (p.Ile1411Met) c.1179+21515T>G c.*1348T>G (n.*1348T>G) c.5598T>G (p.Ile1866Met) c.4248T>G (p.Ile1416Met) | |
| 1 | g.207587439A>C | CA344540745 | CR1 | c.5584A>C (p.Asn1862His) c.4234A>C (p.Asn1412His) c.1179+21516A>C c.*1349A>C (n.*1349A>C) c.5599A>C (p.Asn1867His) c.4249A>C (p.Asn1417His) | |
| 1 | g.207587439A>G | CA344540743 | CR1 | c.5584A>G (p.Asn1862Asp) c.4234A>G (p.Asn1412Asp) c.1179+21516A>G c.*1349A>G (n.*1349A>G) c.5599A>G (p.Asn1867Asp) c.4249A>G (p.Asn1417Asp) | gnomAD v4 |
| 1 | g.207587439A>T | CA344540744 | CR1 | c.5584A>T (p.Asn1862Tyr) c.4234A>T (p.Asn1412Tyr) c.1179+21516A>T c.*1349A>T (n.*1349A>T) c.5599A>T (p.Asn1867Tyr) c.4249A>T (p.Asn1417Tyr) | |
| 1 | g.207587440A= | CA2483446748 | CR1 | c.5585A= (p.Asn1862=) c.4235A= (p.Asn1412=) c.1179+21517A= c.*1350A= (n.*1350A=) c.5600A= (p.Asn1867=) c.4250A= (p.Asn1417=) | |
| 1 | g.207587440A>C | CA344540746 | CR1 | c.5585A>C (p.Asn1862Thr) c.4235A>C (p.Asn1412Thr) c.1179+21517A>C c.*1350A>C (n.*1350A>C) c.5600A>C (p.Asn1867Thr) c.4250A>C (p.Asn1417Thr) | |
| 1 | g.207587440A>G | CA344540747 | CR1 | c.5585A>G (p.Asn1862Ser) c.4235A>G (p.Asn1412Ser) c.1179+21517A>G c.*1350A>G (n.*1350A>G) c.5600A>G (p.Asn1867Ser) c.4250A>G (p.Asn1417Ser) | |
| 1 | g.207587440A>T | CA36647275 | CR1 | c.5585A>T (p.Asn1862Ile) c.4235A>T (p.Asn1412Ile) c.1179+21517A>T c.*1350A>T (n.*1350A>T) c.5600A>T (p.Asn1867Ile) c.4250A>T (p.Asn1417Ile) | dbSNP |
| 1 | g.207587441T>A | CA344540748 | CR1 | c.5586T>A (p.Asn1862Lys) c.4236T>A (p.Asn1412Lys) c.1179+21518T>A c.*1351T>A (n.*1351T>A) c.5601T>A (p.Asn1867Lys) c.4251T>A (p.Asn1417Lys) | |
| 1 | g.207587441T>C | CA422967255 | CR1 | c.5586T>C (p.Asn1862=) c.4236T>C (p.Asn1412=) c.1179+21518T>C c.*1351T>C (n.*1351T>C) c.5601T>C (p.Asn1867=) c.4251T>C (p.Asn1417=) | |
| 1 | g.207587441T>G | CA344540749 | CR1 | c.5586T>G (p.Asn1862Lys) c.4236T>G (p.Asn1412Lys) c.1179+21518T>G c.*1351T>G (n.*1351T>G) c.5601T>G (p.Asn1867Lys) c.4251T>G (p.Asn1417Lys) | |
| 1 | g.207587442G>A | CA344540750 | CR1 | c.5587G>A (p.Asp1863Asn) c.4237G>A (p.Asp1413Asn) c.1179+21519G>A c.*1352G>A (n.*1352G>A) c.5602G>A (p.Asp1868Asn) c.4252G>A (p.Asp1418Asn) | |
| 1 | g.207587442G>C | CA344540751 | CR1 | c.5587G>C (p.Asp1863His) c.4237G>C (p.Asp1413His) c.1179+21519G>C c.*1352G>C (n.*1352G>C) c.5602G>C (p.Asp1868His) c.4252G>C (p.Asp1418His) | |
| 1 | g.207587442G>T | CA344540752 | CR1 | c.5587G>T (p.Asp1863Tyr) c.4237G>T (p.Asp1413Tyr) c.1179+21519G>T c.*1352G>T (n.*1352G>T) c.5602G>T (p.Asp1868Tyr) c.4252G>T (p.Asp1418Tyr) | |
| 1 | g.207587443A>C | CA344540753 | CR1 | c.5588A>C (p.Asp1863Ala) c.4238A>C (p.Asp1413Ala) c.1179+21520A>C c.*1353A>C (n.*1353A>C) c.5603A>C (p.Asp1868Ala) c.4253A>C (p.Asp1418Ala) | |
| 1 | g.207587443A>G | CA344540754 | CR1 | c.5588A>G (p.Asp1863Gly) c.4238A>G (p.Asp1413Gly) c.1179+21520A>G c.*1353A>G (n.*1353A>G) c.5603A>G (p.Asp1868Gly) c.4253A>G (p.Asp1418Gly) | |
| 1 | g.207587443A>T | CA344540755 | CR1 | c.5588A>T (p.Asp1863Val) c.4238A>T (p.Asp1413Val) c.1179+21520A>T c.*1353A>T (n.*1353A>T) c.5603A>T (p.Asp1868Val) c.4253A>T (p.Asp1418Val) | |
| 1 | g.207587444C>A | CA344540756 | CR1 | c.5589C>A (p.Asp1863Glu) c.4239C>A (p.Asp1413Glu) c.1179+21521C>A c.*1354C>A (n.*1354C>A) c.5604C>A (p.Asp1868Glu) c.4254C>A (p.Asp1418Glu) | |
| 1 | g.207587444C>G | CA344540757 | CR1 | c.5589C>G (p.Asp1863Glu) c.4239C>G (p.Asp1413Glu) c.1179+21521C>G c.*1354C>G (n.*1354C>G) c.5604C>G (p.Asp1868Glu) c.4254C>G (p.Asp1418Glu) | |
| 1 | g.207587444C>T | CA422967260 | CR1 | c.5589C>T (p.Asp1863=) c.4239C>T (p.Asp1413=) c.1179+21521C>T c.*1354C>T (n.*1354C>T) c.5604C>T (p.Asp1868=) c.4254C>T (p.Asp1418=) | |
| 1 | g.207587444_207587446delinsCTT | CA2483446749 | CR1 | c.5589_5591delinsCTT (p.Asp1863=) c.4239_4241delinsCTT (p.Asp1413=) c.1179+21521_1179+21523delinsCTT c.*1354_*1356delinsCTT (n.*1354_*1356delinsCTT) c.5604_5606delinsCTT (p.Asp1868=) c.4254_4256delinsCTT (p.Asp1418=) | |
| 1 | g.207587445T>A | CA344540759 | CR1 | c.5590T>A (p.Phe1864Ile) c.4240T>A (p.Phe1414Ile) c.1179+21522T>A c.*1355T>A (n.*1355T>A) c.5605T>A (p.Phe1869Ile) c.4255T>A (p.Phe1419Ile) | |
| 1 | g.207587445T>C | CA344540758 | CR1 | c.5590T>C (p.Phe1864Leu) c.4240T>C (p.Phe1414Leu) c.1179+21522T>C c.*1355T>C (n.*1355T>C) c.5605T>C (p.Phe1869Leu) c.4255T>C (p.Phe1419Leu) | |
| 1 | g.207587445T>G | CA1370214 | CR1 | c.5590T>G (p.Phe1864Val) c.4240T>G (p.Phe1414Val) c.1179+21522T>G c.*1355T>G (n.*1355T>G) c.5605T>G (p.Phe1869Val) c.4255T>G (p.Phe1419Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207587445T= | CA1148416591 | CR1 | c.5590T= (p.Phe1864=) c.4240T= (p.Phe1414=) c.1179+21522T= c.*1355T= (n.*1355T=) c.5605T= (p.Phe1869=) c.4255T= (p.Phe1419=) | |
| 1 | g.207587446_207587447dup | CA2650268918 | CR1 | c.5591_5592dup (p.Glu1865LeufsTer9) c.4241_4242dup (p.Glu1415LeufsTer9) c.1179+21523_1179+21524dup c.*1356_*1357dup (n.*1356_*1357dup) c.5606_5607dup (p.Glu1870LeufsTer9) c.4256_4257dup (p.Glu1420LeufsTer9) | gnomAD v4 |
| 1 | g.207587446_207587447del | CA2483446750 | CR1 | c.5591_5592del (p.Phe1864Ter) c.4241_4242del (p.Phe1414Ter) c.1179+21523_1179+21524del c.*1356_*1357del (n.*1356_*1357del) c.5606_5607del (p.Phe1869Ter) c.4256_4257del (p.Phe1419Ter) | dbSNP |
| 1 | g.207587446T>A | CA344540760 | CR1 | c.5591T>A (p.Phe1864Tyr) c.4241T>A (p.Phe1414Tyr) c.1179+21523T>A c.*1356T>A (n.*1356T>A) c.5606T>A (p.Phe1869Tyr) c.4256T>A (p.Phe1419Tyr) | |
| 1 | g.207587446T>C | CA344540761 | CR1 | c.5591T>C (p.Phe1864Ser) c.4241T>C (p.Phe1414Ser) c.1179+21523T>C c.*1356T>C (n.*1356T>C) c.5606T>C (p.Phe1869Ser) c.4256T>C (p.Phe1419Ser) | |
| 1 | g.207587446T>G | CA344540762 | CR1 | c.5591T>G (p.Phe1864Cys) c.4241T>G (p.Phe1414Cys) c.1179+21523T>G c.*1356T>G (n.*1356T>G) c.5606T>G (p.Phe1869Cys) c.4256T>G (p.Phe1419Cys) | |
| 1 | g.207587447T>A | CA344540763 | CR1 | c.5592T>A (p.Phe1864Leu) c.4242T>A (p.Phe1414Leu) c.1179+21524T>A c.*1357T>A (n.*1357T>A) c.5607T>A (p.Phe1869Leu) c.4257T>A (p.Phe1419Leu) | |
| 1 | g.207587447T>C | CA422967264 | CR1 | c.5592T>C (p.Phe1864=) c.4242T>C (p.Phe1414=) c.1179+21524T>C c.*1357T>C (n.*1357T>C) c.5607T>C (p.Phe1869=) c.4257T>C (p.Phe1419=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587447T>G | CA344540764 | CR1 | c.5592T>G (p.Phe1864Leu) c.4242T>G (p.Phe1414Leu) c.1179+21524T>G c.*1357T>G (n.*1357T>G) c.5607T>G (p.Phe1869Leu) c.4257T>G (p.Phe1419Leu) | |
| 1 | g.207587447T= | CA2483446751 | CR1 | c.5592T= (p.Phe1864=) c.4242T= (p.Phe1414=) c.1179+21524T= c.*1357T= (n.*1357T=) c.5607T= (p.Phe1869=) c.4257T= (p.Phe1419=) | |
| 1 | g.207587448G>A | CA344540765 | CR1 | c.5593G>A (p.Glu1865Lys) c.4243G>A (p.Glu1415Lys) c.1179+21525G>A c.*1358G>A (n.*1358G>A) c.5608G>A (p.Glu1870Lys) c.4258G>A (p.Glu1420Lys) | |
| 1 | g.207587448G>C | CA344540766 | CR1 | c.5593G>C (p.Glu1865Gln) c.4243G>C (p.Glu1415Gln) c.1179+21525G>C c.*1358G>C (n.*1358G>C) c.5608G>C (p.Glu1870Gln) c.4258G>C (p.Glu1420Gln) | |
| 1 | g.207587448G>T | CA344540767 | CR1 | c.5593G>T (p.Glu1865Ter) c.4243G>T (p.Glu1415Ter) c.1179+21525G>T c.*1358G>T (n.*1358G>T) c.5608G>T (p.Glu1870Ter) c.4258G>T (p.Glu1420Ter) | |
| 1 | g.207587449A>C | CA344540768 | CR1 | c.5594A>C (p.Glu1865Ala) c.4244A>C (p.Glu1415Ala) c.1179+21526A>C c.*1359A>C (n.*1359A>C) c.5609A>C (p.Glu1870Ala) c.4259A>C (p.Glu1420Ala) | |
| 1 | g.207587449A>G | CA344540769 | CR1 | c.5594A>G (p.Glu1865Gly) c.4244A>G (p.Glu1415Gly) c.1179+21526A>G c.*1359A>G (n.*1359A>G) c.5609A>G (p.Glu1870Gly) c.4259A>G (p.Glu1420Gly) | |
| 1 | g.207587449A>T | CA344540770 | CR1 | c.5594A>T (p.Glu1865Val) c.4244A>T (p.Glu1415Val) c.1179+21526A>T c.*1359A>T (n.*1359A>T) c.5609A>T (p.Glu1870Val) c.4259A>T (p.Glu1420Val) | |
| 1 | g.207587450G>A | CA1370215 | CR1 | c.5595G>A (p.Glu1865=) c.4245G>A (p.Glu1415=) c.1179+21527G>A c.*1360G>A (n.*1360G>A) c.5610G>A (p.Glu1870=) c.4260G>A (p.Glu1420=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207587450G>C | CA344540771 | CR1 | c.5595G>C (p.Glu1865Asp) c.4245G>C (p.Glu1415Asp) c.1179+21527G>C c.*1360G>C (n.*1360G>C) c.5610G>C (p.Glu1870Asp) c.4260G>C (p.Glu1420Asp) | |
| 1 | g.207587450G= | CA2483446752 | CR1 | c.5595G= (p.Glu1865=) c.4245G= (p.Glu1415=) c.1179+21527G= c.*1360G= (n.*1360G=) c.5610G= (p.Glu1870=) c.4260G= (p.Glu1420=) | |
| 1 | g.207587450G>T | CA344540772 | CR1 | c.5595G>T (p.Glu1865Asp) c.4245G>T (p.Glu1415Asp) c.1179+21527G>T c.*1360G>T (n.*1360G>T) c.5610G>T (p.Glu1870Asp) c.4260G>T (p.Glu1420Asp) | |
| 1 | g.207587451T>A | CA344540775 | CR1 | c.5596T>A (p.Phe1866Ile) c.4246T>A (p.Phe1416Ile) c.1179+21528T>A c.*1361T>A (n.*1361T>A) c.5611T>A (p.Phe1871Ile) c.4261T>A (p.Phe1421Ile) | |
| 1 | g.207587451T>C | CA344540774 | CR1 | c.5596T>C (p.Phe1866Leu) c.4246T>C (p.Phe1416Leu) c.1179+21528T>C c.*1361T>C (n.*1361T>C) c.5611T>C (p.Phe1871Leu) c.4261T>C (p.Phe1421Leu) | |
| 1 | g.207587451T>G | CA344540773 | CR1 | c.5596T>G (p.Phe1866Val) c.4246T>G (p.Phe1416Val) c.1179+21528T>G c.*1361T>G (n.*1361T>G) c.5611T>G (p.Phe1871Val) c.4261T>G (p.Phe1421Val) | |
| 1 | g.207587452T>A | CA344540776 | CR1 | c.5597T>A (p.Phe1866Tyr) c.4247T>A (p.Phe1416Tyr) c.1179+21529T>A c.*1362T>A (n.*1362T>A) c.5612T>A (p.Phe1871Tyr) c.4262T>A (p.Phe1421Tyr) | |
| 1 | g.207587452T>C | CA344540777 | CR1 | c.5597T>C (p.Phe1866Ser) c.4247T>C (p.Phe1416Ser) c.1179+21529T>C c.*1362T>C (n.*1362T>C) c.5612T>C (p.Phe1871Ser) c.4262T>C (p.Phe1421Ser) | COSMIC |
| 1 | g.207587452T>G | CA344540778 | CR1 | c.5597T>G (p.Phe1866Cys) c.4247T>G (p.Phe1416Cys) c.1179+21529T>G c.*1362T>G (n.*1362T>G) c.5612T>G (p.Phe1871Cys) c.4262T>G (p.Phe1421Cys) | |
| 1 | g.207587453T>A | CA344540779 | CR1 | c.5598T>A (p.Phe1866Leu) c.4248T>A (p.Phe1416Leu) c.1179+21530T>A c.*1363T>A (n.*1363T>A) c.5613T>A (p.Phe1871Leu) c.4263T>A (p.Phe1421Leu) | |
| 1 | g.207587453T>C | CA422967271 | CR1 | c.5598T>C (p.Phe1866=) c.4248T>C (p.Phe1416=) c.1179+21530T>C c.*1363T>C (n.*1363T>C) c.5613T>C (p.Phe1871=) c.4263T>C (p.Phe1421=) | |
| 1 | g.207587453T>G | CA344540780 | CR1 | c.5598T>G (p.Phe1866Leu) c.4248T>G (p.Phe1416Leu) c.1179+21530T>G c.*1363T>G (n.*1363T>G) c.5613T>G (p.Phe1871Leu) c.4263T>G (p.Phe1421Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207587453T= | CA2483446753 | CR1 | c.5598T= (p.Phe1866=) c.4248T= (p.Phe1416=) c.1179+21530T= c.*1363T= (n.*1363T=) c.5613T= (p.Phe1871=) c.4263T= (p.Phe1421=) | |
| 1 | g.207587454C>A | CA344540781 | CR1 | c.5599C>A (p.Pro1867Thr) c.4249C>A (p.Pro1417Thr) c.1179+21531C>A c.*1364C>A (n.*1364C>A) c.5614C>A (p.Pro1872Thr) c.4264C>A (p.Pro1422Thr) | |
| 1 | g.207587454C= | CA2483446754 | CR1 | c.5599C= (p.Pro1867=) c.4249C= (p.Pro1417=) c.1179+21531C= c.*1364C= (n.*1364C=) c.5614C= (p.Pro1872=) c.4264C= (p.Pro1422=) | |
| 1 | g.207587454C>G | CA344540782 | CR1 | c.5599C>G (p.Pro1867Ala) c.4249C>G (p.Pro1417Ala) c.1179+21531C>G c.*1364C>G (n.*1364C>G) c.5614C>G (p.Pro1872Ala) c.4264C>G (p.Pro1422Ala) | |
| 1 | g.207587454C>T | CA344540783 | CR1 | c.5599C>T (p.Pro1867Ser) c.4249C>T (p.Pro1417Ser) c.1179+21531C>T c.*1364C>T (n.*1364C>T) c.5614C>T (p.Pro1872Ser) c.4264C>T (p.Pro1422Ser) | dbSNP |
| 1 | g.207587455C>A | CA344540784 | CR1 | c.5600C>A (p.Pro1867Gln) c.4250C>A (p.Pro1417Gln) c.1179+21532C>A c.*1365C>A (n.*1365C>A) c.5615C>A (p.Pro1872Gln) c.4265C>A (p.Pro1422Gln) | |
| 1 | g.207587455C>G | CA344540785 | CR1 | c.5600C>G (p.Pro1867Arg) c.4250C>G (p.Pro1417Arg) c.1179+21532C>G c.*1365C>G (n.*1365C>G) c.5615C>G (p.Pro1872Arg) c.4265C>G (p.Pro1422Arg) | |
| 1 | g.207587455C>T | CA344540786 | CR1 | c.5600C>T (p.Pro1867Leu) c.4250C>T (p.Pro1417Leu) c.1179+21532C>T c.*1365C>T (n.*1365C>T) c.5615C>T (p.Pro1872Leu) c.4265C>T (p.Pro1422Leu) | |
| 1 | g.207587456A>C | CA422967278 | CR1 | c.5601A>C (p.Pro1867=) c.4251A>C (p.Pro1417=) c.1179+21533A>C c.*1366A>C (n.*1366A>C) c.5616A>C (p.Pro1872=) c.4266A>C (p.Pro1422=) | |
| 1 | g.207587456A>G | CA422967279 | CR1 | c.5601A>G (p.Pro1867=) c.4251A>G (p.Pro1417=) c.1179+21533A>G c.*1366A>G (n.*1366A>G) c.5616A>G (p.Pro1872=) c.4266A>G (p.Pro1422=) | |
| 1 | g.207587456A>T | CA422967280 | CR1 | c.5601A>T (p.Pro1867=) c.4251A>T (p.Pro1417=) c.1179+21533A>T c.*1366A>T (n.*1366A>T) c.5616A>T (p.Pro1872=) c.4266A>T (p.Pro1422=) | |
| 1 | g.207587457G>A | CA344540787 | CR1 | c.5602G>A (p.Val1868Ile) c.4252G>A (p.Val1418Ile) c.1179+21534G>A c.*1367G>A (n.*1367G>A) c.5617G>A (p.Val1873Ile) c.4267G>A (p.Val1423Ile) | |
| 1 | g.207587457G>C | CA344540788 | CR1 | c.5602G>C (p.Val1868Leu) c.4252G>C (p.Val1418Leu) c.1179+21534G>C c.*1367G>C (n.*1367G>C) c.5617G>C (p.Val1873Leu) c.4267G>C (p.Val1423Leu) | gnomAD v4 |
| 1 | g.207587457G>T | CA344540789 | CR1 | c.5602G>T (p.Val1868Phe) c.4252G>T (p.Val1418Phe) c.1179+21534G>T c.*1367G>T (n.*1367G>T) c.5617G>T (p.Val1873Phe) c.4267G>T (p.Val1423Phe) | |
| 1 | g.207587458T>A | CA344540791 | CR1 | c.5603T>A (p.Val1868Asp) c.4253T>A (p.Val1418Asp) c.1179+21535T>A c.*1368T>A (n.*1368T>A) c.5618T>A (p.Val1873Asp) c.4268T>A (p.Val1423Asp) | |
| 1 | g.207587458T>C | CA344540792 | CR1 | c.5603T>C (p.Val1868Ala) c.4253T>C (p.Val1418Ala) c.1179+21535T>C c.*1368T>C (n.*1368T>C) c.5618T>C (p.Val1873Ala) c.4268T>C (p.Val1423Ala) | gnomAD v4 |
| 1 | g.207587458T>G | CA344540790 | CR1 | c.5603T>G (p.Val1868Gly) c.4253T>G (p.Val1418Gly) c.1179+21535T>G c.*1368T>G (n.*1368T>G) c.5618T>G (p.Val1873Gly) c.4268T>G (p.Val1423Gly) | gnomAD v4 |
| 1 | g.207587459C>A | CA422967284 | CR1 | c.5604C>A (p.Val1868=) c.4254C>A (p.Val1418=) c.1179+21536C>A c.*1369C>A (n.*1369C>A) c.5619C>A (p.Val1873=) c.4269C>A (p.Val1423=) | gnomAD v4 |
| 1 | g.207587459C= | CA1140387371 | CR1 | c.5604C= (p.Val1868=) c.4254C= (p.Val1418=) c.1179+21536C= c.*1369C= (n.*1369C=) c.5619C= (p.Val1873=) c.4269C= (p.Val1423=) | |
| 1 | g.207587459C>G | CA422967286 | CR1 | c.5604C>G (p.Val1868=) c.4254C>G (p.Val1418=) c.1179+21536C>G c.*1369C>G (n.*1369C>G) c.5619C>G (p.Val1873=) c.4269C>G (p.Val1423=) | |
| 1 | g.207587459C>T | CA1370216 | CR1 | c.5604C>T (p.Val1868=) c.4254C>T (p.Val1418=) c.1179+21536C>T c.*1369C>T (n.*1369C>T) c.5619C>T (p.Val1873=) c.4269C>T (p.Val1423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587460G>A | CA1370217 | CR1 | c.5605G>A (p.Gly1869Arg) c.4255G>A (p.Gly1419Arg) c.1179+21537G>A c.*1370G>A (n.*1370G>A) c.5620G>A (p.Gly1874Arg) c.4270G>A (p.Gly1424Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587460G>C | CA344540793 | CR1 | c.5605G>C (p.Gly1869Arg) c.4255G>C (p.Gly1419Arg) c.1179+21537G>C c.*1370G>C (n.*1370G>C) c.5620G>C (p.Gly1874Arg) c.4270G>C (p.Gly1424Arg) | |
| 1 | g.207587460G= | CA1143251708 | CR1 | c.5605G= (p.Gly1869=) c.4255G= (p.Gly1419=) c.1179+21537G= c.*1370G= (n.*1370G=) c.5620G= (p.Gly1874=) c.4270G= (p.Gly1424=) | |
| 1 | g.207587460G>T | CA344540794 | CR1 | c.5605G>T (p.Gly1869Trp) c.4255G>T (p.Gly1419Trp) c.1179+21537G>T c.*1370G>T (n.*1370G>T) c.5620G>T (p.Gly1874Trp) c.4270G>T (p.Gly1424Trp) | |
| 1 | g.207587461G>A | CA344540795 | CR1 | c.5606G>A (p.Gly1869Glu) c.4256G>A (p.Gly1419Glu) c.1179+21538G>A c.*1371G>A (n.*1371G>A) c.5621G>A (p.Gly1874Glu) c.4271G>A (p.Gly1424Glu) | |
| 1 | g.207587461G>C | CA344540796 | CR1 | c.5606G>C (p.Gly1869Ala) c.4256G>C (p.Gly1419Ala) c.1179+21538G>C c.*1371G>C (n.*1371G>C) c.5621G>C (p.Gly1874Ala) c.4271G>C (p.Gly1424Ala) | |
| 1 | g.207587461G>T | CA344540797 | CR1 | c.5606G>T (p.Gly1869Val) c.4256G>T (p.Gly1419Val) c.1179+21538G>T c.*1371G>T (n.*1371G>T) c.5621G>T (p.Gly1874Val) c.4271G>T (p.Gly1424Val) | COSMIC |
| 1 | g.207587462G>A | CA422967288 | CR1 | c.5607G>A (p.Gly1869=) c.4257G>A (p.Gly1419=) c.1179+21539G>A c.*1372G>A (n.*1372G>A) c.5622G>A (p.Gly1874=) c.4272G>A (p.Gly1424=) | |
| 1 | g.207587462G>C | CA422967290 | CR1 | c.5607G>C (p.Gly1869=) c.4257G>C (p.Gly1419=) c.1179+21539G>C c.*1372G>C (n.*1372G>C) c.5622G>C (p.Gly1874=) c.4272G>C (p.Gly1424=) | |
| 1 | g.207587462G>T | CA422967289 | CR1 | c.5607G>T (p.Gly1869=) c.4257G>T (p.Gly1419=) c.1179+21539G>T c.*1372G>T (n.*1372G>T) c.5622G>T (p.Gly1874=) c.4272G>T (p.Gly1424=) | |
| 1 | g.207587463A>C | CA344540798 | CR1 | c.5608A>C (p.Thr1870Pro) c.4258A>C (p.Thr1420Pro) c.1179+21540A>C c.*1373A>C (n.*1373A>C) c.5623A>C (p.Thr1875Pro) c.4273A>C (p.Thr1425Pro) | |
| 1 | g.207587463A>G | CA344540799 | CR1 | c.5608A>G (p.Thr1870Ala) c.4258A>G (p.Thr1420Ala) c.1179+21540A>G c.*1373A>G (n.*1373A>G) c.5623A>G (p.Thr1875Ala) c.4273A>G (p.Thr1425Ala) | gnomAD v4 |
| 1 | g.207587463A>T | CA344540800 | CR1 | c.5608A>T (p.Thr1870Ser) c.4258A>T (p.Thr1420Ser) c.1179+21540A>T c.*1373A>T (n.*1373A>T) c.5623A>T (p.Thr1875Ser) c.4273A>T (p.Thr1425Ser) | |
| 1 | g.207587464C>A | CA1370218 | CR1 | c.5609C>A (p.Thr1870Lys) c.4259C>A (p.Thr1420Lys) c.1179+21541C>A c.*1374C>A (n.*1374C>A) c.5624C>A (p.Thr1875Lys) c.4274C>A (p.Thr1425Lys) | dbSNP ExAC gnomAD v2 |
| 1 | g.207587464C= | CA2483446755 | CR1 | c.5609C= (p.Thr1870=) c.4259C= (p.Thr1420=) c.1179+21541C= c.*1374C= (n.*1374C=) c.5624C= (p.Thr1875=) c.4274C= (p.Thr1425=) | |
| 1 | g.207587464C>G | CA344540801 | CR1 | c.5609C>G (p.Thr1870Arg) c.4259C>G (p.Thr1420Arg) c.1179+21541C>G c.*1374C>G (n.*1374C>G) c.5624C>G (p.Thr1875Arg) c.4274C>G (p.Thr1425Arg) | |
| 1 | g.207587464C>T | CA344540802 | CR1 | c.5609C>T (p.Thr1870Ile) c.4259C>T (p.Thr1420Ile) c.1179+21541C>T c.*1374C>T (n.*1374C>T) c.5624C>T (p.Thr1875Ile) c.4274C>T (p.Thr1425Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587465_207587467dup | CA2650268919 | CR1 | c.5610_5612dup (p.Ser1871_Leu1872insSer) c.4260_4262dup (p.Ser1421_Leu1422insSer) c.1179+21542_1179+21544dup c.*1375_*1377dup (n.*1375_*1377dup) c.5625_5627dup (p.Ser1876_Leu1877insSer) c.4275_4277dup (p.Ser1426_Leu1427insSer) | gnomAD v4 |
| 1 | g.207587465A= | CA2483446756 | CR1 | c.5610A= (p.Thr1870=) c.4260A= (p.Thr1420=) c.1179+21542A= c.*1375A= (n.*1375A=) c.5625A= (p.Thr1875=) c.4275A= (p.Thr1425=) | |
| 1 | g.207587465A>C | CA422967298 | CR1 | c.5610A>C (p.Thr1870=) c.4260A>C (p.Thr1420=) c.1179+21542A>C c.*1375A>C (n.*1375A>C) c.5625A>C (p.Thr1875=) c.4275A>C (p.Thr1425=) | |
| 1 | g.207587465A>G | CA422967297 | CR1 | c.5610A>G (p.Thr1870=) c.4260A>G (p.Thr1420=) c.1179+21542A>G c.*1375A>G (n.*1375A>G) c.5625A>G (p.Thr1875=) c.4275A>G (p.Thr1425=) | dbSNP |
| 1 | g.207587465A>T | CA422967296 | CR1 | c.5610A>T (p.Thr1870=) c.4260A>T (p.Thr1420=) c.1179+21542A>T c.*1375A>T (n.*1375A>T) c.5625A>T (p.Thr1875=) c.4275A>T (p.Thr1425=) | |
| 1 | g.207587466T>A | CA344540805 | CR1 | c.5611T>A (p.Ser1871Thr) c.4261T>A (p.Ser1421Thr) c.1179+21543T>A c.*1376T>A (n.*1376T>A) c.5626T>A (p.Ser1876Thr) c.4276T>A (p.Ser1426Thr) | |
| 1 | g.207587466T>C | CA344540803 | CR1 | c.5611T>C (p.Ser1871Pro) c.4261T>C (p.Ser1421Pro) c.1179+21543T>C c.*1376T>C (n.*1376T>C) c.5626T>C (p.Ser1876Pro) c.4276T>C (p.Ser1426Pro) | |
| 1 | g.207587466T>G | CA344540804 | CR1 | c.5611T>G (p.Ser1871Ala) c.4261T>G (p.Ser1421Ala) c.1179+21543T>G c.*1376T>G (n.*1376T>G) c.5626T>G (p.Ser1876Ala) c.4276T>G (p.Ser1426Ala) | |
| 1 | g.207587467C>A | CA344540806 | CR1 | c.5612C>A (p.Ser1871Tyr) c.4262C>A (p.Ser1421Tyr) c.1179+21544C>A c.*1377C>A (n.*1377C>A) c.5627C>A (p.Ser1876Tyr) c.4277C>A (p.Ser1426Tyr) | |
| 1 | g.207587467C>G | CA344540807 | CR1 | c.5612C>G (p.Ser1871Cys) c.4262C>G (p.Ser1421Cys) c.1179+21544C>G c.*1377C>G (n.*1377C>G) c.5627C>G (p.Ser1876Cys) c.4277C>G (p.Ser1426Cys) | |
| 1 | g.207587467C>T | CA344540808 | CR1 | c.5612C>T (p.Ser1871Phe) c.4262C>T (p.Ser1421Phe) c.1179+21544C>T c.*1377C>T (n.*1377C>T) c.5627C>T (p.Ser1876Phe) c.4277C>T (p.Ser1426Phe) | gnomAD v4 |
| 1 | g.207587468T>A | CA422967299 | CR1 | c.5613T>A (p.Ser1871=) c.4263T>A (p.Ser1421=) c.1179+21545T>A c.*1378T>A (n.*1378T>A) c.5628T>A (p.Ser1876=) c.4278T>A (p.Ser1426=) | |
| 1 | g.207587468T>C | CA422967301 | CR1 | c.5613T>C (p.Ser1871=) c.4263T>C (p.Ser1421=) c.1179+21545T>C c.*1378T>C (n.*1378T>C) c.5628T>C (p.Ser1876=) c.4278T>C (p.Ser1426=) | |
| 1 | g.207587468T>G | CA422967300 | CR1 | c.5613T>G (p.Ser1871=) c.4263T>G (p.Ser1421=) c.1179+21545T>G c.*1378T>G (n.*1378T>G) c.5628T>G (p.Ser1876=) c.4278T>G (p.Ser1426=) | |
| 1 | g.207587469T>A | CA344540809 | CR1 | c.5614T>A (p.Leu1872Met) c.4264T>A (p.Leu1422Met) c.1179+21546T>A c.*1379T>A (n.*1379T>A) c.5629T>A (p.Leu1877Met) c.4279T>A (p.Leu1427Met) | |
| 1 | g.207587469T>C | CA422967303 | CR1 | c.5614T>C (p.Leu1872=) c.4264T>C (p.Leu1422=) c.1179+21546T>C c.*1379T>C (n.*1379T>C) c.5629T>C (p.Leu1877=) c.4279T>C (p.Leu1427=) | |
| 1 | g.207587469T>G | CA344540810 | CR1 | c.5614T>G (p.Leu1872Val) c.4264T>G (p.Leu1422Val) c.1179+21546T>G c.*1379T>G (n.*1379T>G) c.5629T>G (p.Leu1877Val) c.4279T>G (p.Leu1427Val) | |
| 1 | g.207587470T>A | CA344540811 | CR1 | c.5615T>A (p.Leu1872Ter) c.4265T>A (p.Leu1422Ter) c.1179+21547T>A c.*1380T>A (n.*1380T>A) c.5630T>A (p.Leu1877Ter) c.4280T>A (p.Leu1427Ter) | |
| 1 | g.207587470T>C | CA344540812 | CR1 | c.5615T>C (p.Leu1872Ser) c.4265T>C (p.Leu1422Ser) c.1179+21547T>C c.*1380T>C (n.*1380T>C) c.5630T>C (p.Leu1877Ser) c.4280T>C (p.Leu1427Ser) | |
| 1 | g.207587470T>G | CA344540813 | CR1 | c.5615T>G (p.Leu1872Trp) c.4265T>G (p.Leu1422Trp) c.1179+21547T>G c.*1380T>G (n.*1380T>G) c.5630T>G (p.Leu1877Trp) c.4280T>G (p.Leu1427Trp) | |
| 1 | g.207587470_207587471delinsTG | CA2483446757 | CR1 | c.5615_5616delinsTG (p.Leu1872=) c.4265_4266delinsTG (p.Leu1422=) c.1179+21547_1179+21548delinsTG c.*1380_*1381delinsTG (n.*1380_*1381delinsTG) c.5630_5631delinsTG (p.Leu1877=) c.4280_4281delinsTG (p.Leu1427=) | |
| 1 | g.207587471del | CA730645254 | CR1 | c.5616del (p.Asn1873IlefsTer18) c.4266del (p.Asn1423IlefsTer18) c.1179+21548del c.*1381del (n.*1381del) c.5631del (p.Asn1878IlefsTer18) c.4281del (p.Asn1428IlefsTer18) | dbSNP |
| 1 | g.207587471G>A | CA36647291 | CR1 | c.5616G>A (p.Leu1872=) c.4266G>A (p.Leu1422=) c.1179+21548G>A c.*1381G>A (n.*1381G>A) c.5631G>A (p.Leu1877=) c.4281G>A (p.Leu1427=) | dbSNP |
| 1 | g.207587471G>C | CA344540814 | CR1 | c.5616G>C (p.Leu1872Phe) c.4266G>C (p.Leu1422Phe) c.1179+21548G>C c.*1381G>C (n.*1381G>C) c.5631G>C (p.Leu1877Phe) c.4281G>C (p.Leu1427Phe) | |
| 1 | g.207587471G= | CA2483446758 | CR1 | c.5616G= (p.Leu1872=) c.4266G= (p.Leu1422=) c.1179+21548G= c.*1381G= (n.*1381G=) c.5631G= (p.Leu1877=) c.4281G= (p.Leu1427=) | |
| 1 | g.207587471G>T | CA344540815 | CR1 | c.5616G>T (p.Leu1872Phe) c.4266G>T (p.Leu1422Phe) c.1179+21548G>T c.*1381G>T (n.*1381G>T) c.5631G>T (p.Leu1877Phe) c.4281G>T (p.Leu1427Phe) | |
| 1 | g.207587472A>C | CA344540818 | CR1 | c.5617A>C (p.Asn1873His) c.4267A>C (p.Asn1423His) c.1179+21549A>C c.*1382A>C (n.*1382A>C) c.5632A>C (p.Asn1878His) c.4282A>C (p.Asn1428His) | |
| 1 | g.207587472A>G | CA344540816 | CR1 | c.5617A>G (p.Asn1873Asp) c.4267A>G (p.Asn1423Asp) c.1179+21549A>G c.*1382A>G (n.*1382A>G) c.5632A>G (p.Asn1878Asp) c.4282A>G (p.Asn1428Asp) | |
| 1 | g.207587472A>T | CA344540817 | CR1 | c.5617A>T (p.Asn1873Tyr) c.4267A>T (p.Asn1423Tyr) c.1179+21549A>T c.*1382A>T (n.*1382A>T) c.5632A>T (p.Asn1878Tyr) c.4282A>T (p.Asn1428Tyr) | |
| 1 | g.207587473A>C | CA344540819 | CR1 | c.5618A>C (p.Asn1873Thr) c.4268A>C (p.Asn1423Thr) c.1179+21550A>C c.*1383A>C (n.*1383A>C) c.5633A>C (p.Asn1878Thr) c.4283A>C (p.Asn1428Thr) | |
| 1 | g.207587473A>G | CA344540820 | CR1 | c.5618A>G (p.Asn1873Ser) c.4268A>G (p.Asn1423Ser) c.1179+21550A>G c.*1383A>G (n.*1383A>G) c.5633A>G (p.Asn1878Ser) c.4283A>G (p.Asn1428Ser) | gnomAD v4 |
| 1 | g.207587473A>T | CA344540821 | CR1 | c.5618A>T (p.Asn1873Ile) c.4268A>T (p.Asn1423Ile) c.1179+21550A>T c.*1383A>T (n.*1383A>T) c.5633A>T (p.Asn1878Ile) c.4283A>T (p.Asn1428Ile) | |
| 1 | g.207587474T>A | CA344540822 | CR1 | c.5619T>A (p.Asn1873Lys) c.4269T>A (p.Asn1423Lys) c.1179+21551T>A c.*1384T>A (n.*1384T>A) c.5634T>A (p.Asn1878Lys) c.4284T>A (p.Asn1428Lys) | |
| 1 | g.207587474T>C | CA1370219 | CR1 | c.5619T>C (p.Asn1873=) c.4269T>C (p.Asn1423=) c.1179+21551T>C c.*1384T>C (n.*1384T>C) c.5634T>C (p.Asn1878=) c.4284T>C (p.Asn1428=) | dbSNP ExAC gnomAD v4 |
| 1 | g.207587474T>G | CA344540823 | CR1 | c.5619T>G (p.Asn1873Lys) c.4269T>G (p.Asn1423Lys) c.1179+21551T>G c.*1384T>G (n.*1384T>G) c.5634T>G (p.Asn1878Lys) c.4284T>G (p.Asn1428Lys) | |
| 1 | g.207587474T= | CA2483446759 | CR1 | c.5619T= (p.Asn1873=) c.4269T= (p.Asn1423=) c.1179+21551T= c.*1384T= (n.*1384T=) c.5634T= (p.Asn1878=) c.4284T= (p.Asn1428=) | |
| 1 | g.207587475T>A | CA344540826 | CR1 | c.5620T>A (p.Tyr1874Asn) c.4270T>A (p.Tyr1424Asn) c.1179+21552T>A c.*1385T>A (n.*1385T>A) c.5635T>A (p.Tyr1879Asn) c.4285T>A (p.Tyr1429Asn) | |
| 1 | g.207587475T>C | CA344540825 | CR1 | c.5620T>C (p.Tyr1874His) c.4270T>C (p.Tyr1424His) c.1179+21552T>C c.*1385T>C (n.*1385T>C) c.5635T>C (p.Tyr1879His) c.4285T>C (p.Tyr1429His) | |
| 1 | g.207587475T>G | CA344540824 | CR1 | c.5620T>G (p.Tyr1874Asp) c.4270T>G (p.Tyr1424Asp) c.1179+21552T>G c.*1385T>G (n.*1385T>G) c.5635T>G (p.Tyr1879Asp) c.4285T>G (p.Tyr1429Asp) | |
| 1 | g.207587476A= | CA2483446760 | CR1 | c.5621A= (p.Tyr1874=) c.4271A= (p.Tyr1424=) c.1179+21553A= c.*1386A= (n.*1386A=) c.5636A= (p.Tyr1879=) c.4286A= (p.Tyr1429=) | |
| 1 | g.207587476A>C | CA344540827 | CR1 | c.5621A>C (p.Tyr1874Ser) c.4271A>C (p.Tyr1424Ser) c.1179+21553A>C c.*1386A>C (n.*1386A>C) c.5636A>C (p.Tyr1879Ser) c.4286A>C (p.Tyr1429Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.207587476A>G | CA344540828 | CR1 | c.5621A>G (p.Tyr1874Cys) c.4271A>G (p.Tyr1424Cys) c.1179+21553A>G c.*1386A>G (n.*1386A>G) c.5636A>G (p.Tyr1879Cys) c.4286A>G (p.Tyr1429Cys) | |
| 1 | g.207587476A>T | CA344540829 | CR1 | c.5621A>T (p.Tyr1874Phe) c.4271A>T (p.Tyr1424Phe) c.1179+21553A>T c.*1386A>T (n.*1386A>T) c.5636A>T (p.Tyr1879Phe) c.4286A>T (p.Tyr1429Phe) | |
| 1 | g.207587477T>A | CA344540830 | CR1 | c.5622T>A (p.Tyr1874Ter) c.4272T>A (p.Tyr1424Ter) c.1179+21554T>A c.*1387T>A (n.*1387T>A) c.5637T>A (p.Tyr1879Ter) c.4287T>A (p.Tyr1429Ter) | |
| 1 | g.207587477T>C | CA1370220 | CR1 | c.5622T>C (p.Tyr1874=) c.4272T>C (p.Tyr1424=) c.1179+21554T>C c.*1387T>C (n.*1387T>C) c.5637T>C (p.Tyr1879=) c.4287T>C (p.Tyr1429=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587477T>G | CA344540831 | CR1 | c.5622T>G (p.Tyr1874Ter) c.4272T>G (p.Tyr1424Ter) c.1179+21554T>G c.*1387T>G (n.*1387T>G) c.5637T>G (p.Tyr1879Ter) c.4287T>G (p.Tyr1429Ter) | |
| 1 | g.207587477T= | CA2483446761 | CR1 | c.5622T= (p.Tyr1874=) c.4272T= (p.Tyr1424=) c.1179+21554T= c.*1387T= (n.*1387T=) c.5637T= (p.Tyr1879=) c.4287T= (p.Tyr1429=) | |
| 1 | g.207587478G>A | CA344540834 | CR1 | c.5623G>A (p.Glu1875Lys) c.4273G>A (p.Glu1425Lys) c.1179+21555G>A c.*1388G>A (n.*1388G>A) c.5638G>A (p.Glu1880Lys) c.4288G>A (p.Glu1430Lys) | |
| 1 | g.207587478G>C | CA344540832 | CR1 | c.5623G>C (p.Glu1875Gln) c.4273G>C (p.Glu1425Gln) c.1179+21555G>C c.*1388G>C (n.*1388G>C) c.5638G>C (p.Glu1880Gln) c.4288G>C (p.Glu1430Gln) | |
| 1 | g.207587478G>T | CA344540833 | CR1 | c.5623G>T (p.Glu1875Ter) c.4273G>T (p.Glu1425Ter) c.1179+21555G>T c.*1388G>T (n.*1388G>T) c.5638G>T (p.Glu1880Ter) c.4288G>T (p.Glu1430Ter) | |
| 1 | g.207587479A>C | CA344540835 | CR1 | c.5624A>C (p.Glu1875Ala) c.4274A>C (p.Glu1425Ala) c.1179+21556A>C c.*1389A>C (n.*1389A>C) c.5639A>C (p.Glu1880Ala) c.4289A>C (p.Glu1430Ala) | gnomAD v4 |
| 1 | g.207587479A>G | CA344540836 | CR1 | c.5624A>G (p.Glu1875Gly) c.4274A>G (p.Glu1425Gly) c.1179+21556A>G c.*1389A>G (n.*1389A>G) c.5639A>G (p.Glu1880Gly) c.4289A>G (p.Glu1430Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207587479A>T | CA344540837 | CR1 | c.5624A>T (p.Glu1875Val) c.4274A>T (p.Glu1425Val) c.1179+21556A>T c.*1389A>T (n.*1389A>T) c.5639A>T (p.Glu1880Val) c.4289A>T (p.Glu1430Val) | |
| 1 | g.207587480A= | CA2483446762 | CR1 | c.5625A= (p.Glu1875=) c.4275A= (p.Glu1425=) c.1179+21557A= c.*1390A= (n.*1390A=) c.5640A= (p.Glu1880=) c.4290A= (p.Glu1430=) | |
| 1 | g.207587480A>C | CA344540838 | CR1 | c.5625A>C (p.Glu1875Asp) c.4275A>C (p.Glu1425Asp) c.1179+21557A>C c.*1390A>C (n.*1390A>C) c.5640A>C (p.Glu1880Asp) c.4290A>C (p.Glu1430Asp) | |
| 1 | g.207587480A>G | CA422967317 | CR1 | c.5625A>G (p.Glu1875=) c.4275A>G (p.Glu1425=) c.1179+21557A>G c.*1390A>G (n.*1390A>G) c.5640A>G (p.Glu1880=) c.4290A>G (p.Glu1430=) | |
| 1 | g.207587480A>T | CA344540839 | CR1 | c.5625A>T (p.Glu1875Asp) c.4275A>T (p.Glu1425Asp) c.1179+21557A>T c.*1390A>T (n.*1390A>T) c.5640A>T (p.Glu1880Asp) c.4290A>T (p.Glu1430Asp) | dbSNP |
| 1 | g.207587481T>A | CA344540840 | CR1 | c.5626T>A (p.Cys1876Ser) c.4276T>A (p.Cys1426Ser) c.1179+21558T>A c.*1391T>A (n.*1391T>A) c.5641T>A (p.Cys1881Ser) c.4291T>A (p.Cys1431Ser) | |
| 1 | g.207587481T>C | CA344540841 | CR1 | c.5626T>C (p.Cys1876Arg) c.4276T>C (p.Cys1426Arg) c.1179+21558T>C c.*1391T>C (n.*1391T>C) c.5641T>C (p.Cys1881Arg) c.4291T>C (p.Cys1431Arg) | gnomAD v4 |
| 1 | g.207587481T>G | CA344540842 | CR1 | c.5626T>G (p.Cys1876Gly) c.4276T>G (p.Cys1426Gly) c.1179+21558T>G c.*1391T>G (n.*1391T>G) c.5641T>G (p.Cys1881Gly) c.4291T>G (p.Cys1431Gly) | |
| 1 | g.207587482G>A | CA1370221 | CR1 | c.5627G>A (p.Cys1876Tyr) c.4277G>A (p.Cys1426Tyr) c.1179+21559G>A c.*1392G>A (n.*1392G>A) c.5642G>A (p.Cys1881Tyr) c.4292G>A (p.Cys1431Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207587482G>C | CA344540843 | CR1 | c.5627G>C (p.Cys1876Ser) c.4277G>C (p.Cys1426Ser) c.1179+21559G>C c.*1392G>C (n.*1392G>C) c.5642G>C (p.Cys1881Ser) c.4292G>C (p.Cys1431Ser) | |
| 1 | g.207587482G= | CA1144124417 | CR1 | c.5627G= (p.Cys1876=) c.4277G= (p.Cys1426=) c.1179+21559G= c.*1392G= (n.*1392G=) c.5642G= (p.Cys1881=) c.4292G= (p.Cys1431=) | |
| 1 | g.207587482G>T | CA344540844 | CR1 | c.5627G>T (p.Cys1876Phe) c.4277G>T (p.Cys1426Phe) c.1179+21559G>T c.*1392G>T (n.*1392G>T) c.5642G>T (p.Cys1881Phe) c.4292G>T (p.Cys1431Phe) | |
| 1 | g.207587483C>A | CA344540845 | CR1 | c.5628C>A (p.Cys1876Ter) c.4278C>A (p.Cys1426Ter) c.1179+21560C>A c.*1393C>A (n.*1393C>A) c.5643C>A (p.Cys1881Ter) c.4293C>A (p.Cys1431Ter) | |
| 1 | g.207587483C>G | CA344540846 | CR1 | c.5628C>G (p.Cys1876Trp) c.4278C>G (p.Cys1426Trp) c.1179+21560C>G c.*1393C>G (n.*1393C>G) c.5643C>G (p.Cys1881Trp) c.4293C>G (p.Cys1431Trp) | |
| 1 | g.207587483C>T | CA422967320 | CR1 | c.5628C>T (p.Cys1876=) c.4278C>T (p.Cys1426=) c.1179+21560C>T c.*1393C>T (n.*1393C>T) c.5643C>T (p.Cys1881=) c.4293C>T (p.Cys1431=) | |
| 1 | g.207587484C>A | CA344540848 | CR1 | c.5629C>A (p.Arg1877Ser) c.4279C>A (p.Arg1427Ser) c.1179+21561C>A c.*1394C>A (n.*1394C>A) c.5644C>A (p.Arg1882Ser) c.4294C>A (p.Arg1432Ser) | dbSNP |
| 1 | g.207587484C= | CA1143807336 | CR1 | c.5629C= (p.Arg1877=) c.4279C= (p.Arg1427=) c.1179+21561C= c.*1394C= (n.*1394C=) c.5644C= (p.Arg1882=) c.4294C= (p.Arg1432=) | |
| 1 | g.207587484C>G | CA344540847 | CR1 | c.5629C>G (p.Arg1877Gly) c.4279C>G (p.Arg1427Gly) c.1179+21561C>G c.*1394C>G (n.*1394C>G) c.5644C>G (p.Arg1882Gly) c.4294C>G (p.Arg1432Gly) | |
| 1 | g.207587484C>T | CA1370222 | CR1 | c.5629C>T (p.Arg1877Cys) c.4279C>T (p.Arg1427Cys) c.1179+21561C>T c.*1394C>T (n.*1394C>T) c.5644C>T (p.Arg1882Cys) c.4294C>T (p.Arg1432Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587485G>A | CA1370223 | CR1 | c.5630G>A (p.Arg1877His) c.4280G>A (p.Arg1427His) c.1179+21562G>A c.*1395G>A (n.*1395G>A) c.5645G>A (p.Arg1882His) c.4295G>A (p.Arg1432His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.207587485G>C | CA344540849 | CR1 | c.5630G>C (p.Arg1877Pro) c.4280G>C (p.Arg1427Pro) c.1179+21562G>C c.*1395G>C (n.*1395G>C) c.5645G>C (p.Arg1882Pro) c.4295G>C (p.Arg1432Pro) | |
| 1 | g.207587485G= | CA1143902854 | CR1 | c.5630G= (p.Arg1877=) c.4280G= (p.Arg1427=) c.1179+21562G= c.*1395G= (n.*1395G=) c.5645G= (p.Arg1882=) c.4295G= (p.Arg1432=) | |
| 1 | g.207587485G>T | CA344540850 | CR1 | c.5630G>T (p.Arg1877Leu) c.4280G>T (p.Arg1427Leu) c.1179+21562G>T c.*1395G>T (n.*1395G>T) c.5645G>T (p.Arg1882Leu) c.4295G>T (p.Arg1432Leu) | |
| 1 | g.207587486T>A | CA422967322 | CR1 | c.5631T>A (p.Arg1877=) c.4281T>A (p.Arg1427=) c.1179+21563T>A c.*1396T>A (n.*1396T>A) c.5646T>A (p.Arg1882=) c.4296T>A (p.Arg1432=) | |
| 1 | g.207587486T>C | CA422967323 | CR1 | c.5631T>C (p.Arg1877=) c.4281T>C (p.Arg1427=) c.1179+21563T>C c.*1396T>C (n.*1396T>C) c.5646T>C (p.Arg1882=) c.4296T>C (p.Arg1432=) | |
| 1 | g.207587486T>G | CA422967324 | CR1 | c.5631T>G (p.Arg1877=) c.4281T>G (p.Arg1427=) c.1179+21563T>G c.*1396T>G (n.*1396T>G) c.5646T>G (p.Arg1882=) c.4296T>G (p.Arg1432=) | |
| 1 | g.207587487C>A | CA344540851 | CR1 | c.5632C>A (p.Pro1878Thr) c.4282C>A (p.Pro1428Thr) c.1179+21564C>A c.*1397C>A (n.*1397C>A) c.5647C>A (p.Pro1883Thr) c.4297C>A (p.Pro1433Thr) | |
| 1 | g.207587487C= | CA1144189489 | CR1 | c.5632C= (p.Pro1878=) c.4282C= (p.Pro1428=) c.1179+21564C= c.*1397C= (n.*1397C=) c.5647C= (p.Pro1883=) c.4297C= (p.Pro1433=) | |
| 1 | g.207587487C>G | CA1370225 | CR1 | c.5632C>G (p.Pro1878Ala) c.4282C>G (p.Pro1428Ala) c.1179+21564C>G c.*1397C>G (n.*1397C>G) c.5647C>G (p.Pro1883Ala) c.4297C>G (p.Pro1433Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207587487C>T | CA1370224 | CR1 | c.5632C>T (p.Pro1878Ser) c.4282C>T (p.Pro1428Ser) c.1179+21564C>T c.*1397C>T (n.*1397C>T) c.5647C>T (p.Pro1883Ser) c.4297C>T (p.Pro1433Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587488C>A | CA344540854 | CR1 | c.5633C>A (p.Pro1878His) c.4283C>A (p.Pro1428His) c.1179+21565C>A c.*1398C>A (n.*1398C>A) c.5648C>A (p.Pro1883His) c.4298C>A (p.Pro1433His) | |
| 1 | g.207587488C>G | CA344540853 | CR1 | c.5633C>G (p.Pro1878Arg) c.4283C>G (p.Pro1428Arg) c.1179+21565C>G c.*1398C>G (n.*1398C>G) c.5648C>G (p.Pro1883Arg) c.4298C>G (p.Pro1433Arg) | |
| 1 | g.207587488C>T | CA344540852 | CR1 | c.5633C>T (p.Pro1878Leu) c.4283C>T (p.Pro1428Leu) c.1179+21565C>T c.*1398C>T (n.*1398C>T) c.5648C>T (p.Pro1883Leu) c.4298C>T (p.Pro1433Leu) | COSMIC COSMIC |
| 1 | g.207587489T>A | CA422967328 | CR1 | c.5634T>A (p.Pro1878=) c.4284T>A (p.Pro1428=) c.1179+21566T>A c.*1399T>A (n.*1399T>A) c.5649T>A (p.Pro1883=) c.4299T>A (p.Pro1433=) | |
| 1 | g.207587489T>C | CA36647320 | CR1 | c.5634T>C (p.Pro1878=) c.4284T>C (p.Pro1428=) c.1179+21566T>C c.*1399T>C (n.*1399T>C) c.5649T>C (p.Pro1883=) c.4299T>C (p.Pro1433=) | dbSNP |
| 1 | g.207587489T>G | CA422967329 | CR1 | c.5634T>G (p.Pro1878=) c.4284T>G (p.Pro1428=) c.1179+21566T>G c.*1399T>G (n.*1399T>G) c.5649T>G (p.Pro1883=) c.4299T>G (p.Pro1433=) | |
| 1 | g.207587489T= | CA2483446763 | CR1 | c.5634T= (p.Pro1878=) c.4284T= (p.Pro1428=) c.1179+21566T= c.*1399T= (n.*1399T=) c.5649T= (p.Pro1883=) c.4299T= (p.Pro1433=) | |
| 1 | g.207587490G>A | CA344540855 | CR1 | c.5635G>A (p.Gly1879Arg) c.4285G>A (p.Gly1429Arg) c.1179+21567G>A c.*1400G>A (n.*1400G>A) c.5650G>A (p.Gly1884Arg) c.4300G>A (p.Gly1434Arg) | |
| 1 | g.207587490G>C | CA344540856 | CR1 | c.5635G>C (p.Gly1879Arg) c.4285G>C (p.Gly1429Arg) c.1179+21567G>C c.*1400G>C (n.*1400G>C) c.5650G>C (p.Gly1884Arg) c.4300G>C (p.Gly1434Arg) | |
| 1 | g.207587490G>T | CA344540857 | CR1 | c.5635G>T (p.Gly1879Trp) c.4285G>T (p.Gly1429Trp) c.1179+21567G>T c.*1400G>T (n.*1400G>T) c.5650G>T (p.Gly1884Trp) c.4300G>T (p.Gly1434Trp) | |
| 1 | g.207587491G>A | CA344540858 | CR1 | c.5636G>A (p.Gly1879Glu) c.4286G>A (p.Gly1429Glu) c.1179+21568G>A c.*1401G>A (n.*1401G>A) c.5651G>A (p.Gly1884Glu) c.4301G>A (p.Gly1434Glu) | |
| 1 | g.207587491G>C | CA344540859 | CR1 | c.5636G>C (p.Gly1879Ala) c.4286G>C (p.Gly1429Ala) c.1179+21568G>C c.*1401G>C (n.*1401G>C) c.5651G>C (p.Gly1884Ala) c.4301G>C (p.Gly1434Ala) | |
| 1 | g.207587491G>T | CA344540860 | CR1 | c.5636G>T (p.Gly1879Val) c.4286G>T (p.Gly1429Val) c.1179+21568G>T c.*1401G>T (n.*1401G>T) c.5651G>T (p.Gly1884Val) c.4301G>T (p.Gly1434Val) | |
| 1 | g.207587492G>A | CA422967330 | CR1 | c.5637G>A (p.Gly1879=) c.4287G>A (p.Gly1429=) c.1179+21569G>A c.*1402G>A (n.*1402G>A) c.5652G>A (p.Gly1884=) c.4302G>A (p.Gly1434=) | gnomAD v4 |
| 1 | g.207587492G>C | CA422967331 | CR1 | c.5637G>C (p.Gly1879=) c.4287G>C (p.Gly1429=) c.1179+21569G>C c.*1402G>C (n.*1402G>C) c.5652G>C (p.Gly1884=) c.4302G>C (p.Gly1434=) | |
| 1 | g.207587492G>T | CA422967332 | CR1 | c.5637G>T (p.Gly1879=) c.4287G>T (p.Gly1429=) c.1179+21569G>T c.*1402G>T (n.*1402G>T) c.5652G>T (p.Gly1884=) c.4302G>T (p.Gly1434=) | |
| 1 | g.207587493T>A | CA344540861 | CR1 | c.5638T>A (p.Tyr1880Asn) c.4288T>A (p.Tyr1430Asn) c.1179+21570T>A c.*1403T>A (n.*1403T>A) c.5653T>A (p.Tyr1885Asn) c.4303T>A (p.Tyr1435Asn) | |
| 1 | g.207587493T>C | CA344540863 | CR1 | c.5638T>C (p.Tyr1880His) c.4288T>C (p.Tyr1430His) c.1179+21570T>C c.*1403T>C (n.*1403T>C) c.5653T>C (p.Tyr1885His) c.4303T>C (p.Tyr1435His) | |
| 1 | g.207587493T>G | CA344540862 | CR1 | c.5638T>G (p.Tyr1880Asp) c.4288T>G (p.Tyr1430Asp) c.1179+21570T>G c.*1403T>G (n.*1403T>G) c.5653T>G (p.Tyr1885Asp) c.4303T>G (p.Tyr1435Asp) | |
| 1 | g.207587494A>C | CA344540864 | CR1 | c.5639A>C (p.Tyr1880Ser) c.4289A>C (p.Tyr1430Ser) c.1179+21571A>C c.*1404A>C (n.*1404A>C) c.5654A>C (p.Tyr1885Ser) c.4304A>C (p.Tyr1435Ser) | |
| 1 | g.207587494A>G | CA344540865 | CR1 | c.5639A>G (p.Tyr1880Cys) c.4289A>G (p.Tyr1430Cys) c.1179+21571A>G c.*1404A>G (n.*1404A>G) c.5654A>G (p.Tyr1885Cys) c.4304A>G (p.Tyr1435Cys) | |
| 1 | g.207587494A>T | CA344540866 | CR1 | c.5639A>T (p.Tyr1880Phe) c.4289A>T (p.Tyr1430Phe) c.1179+21571A>T c.*1404A>T (n.*1404A>T) c.5654A>T (p.Tyr1885Phe) c.4304A>T (p.Tyr1435Phe) | |
| 1 | g.207587495T>A | CA344540867 | CR1 | c.5640T>A (p.Tyr1880Ter) c.4290T>A (p.Tyr1430Ter) c.1179+21572T>A c.*1405T>A (n.*1405T>A) c.5655T>A (p.Tyr1885Ter) c.4305T>A (p.Tyr1435Ter) | |
| 1 | g.207587495T>C | CA422967336 | CR1 | c.5640T>C (p.Tyr1880=) c.4290T>C (p.Tyr1430=) c.1179+21572T>C c.*1405T>C (n.*1405T>C) c.5655T>C (p.Tyr1885=) c.4305T>C (p.Tyr1435=) | |
| 1 | g.207587495T>G | CA344540868 | CR1 | c.5640T>G (p.Tyr1880Ter) c.4290T>G (p.Tyr1430Ter) c.1179+21572T>G c.*1405T>G (n.*1405T>G) c.5655T>G (p.Tyr1885Ter) c.4305T>G (p.Tyr1435Ter) | |
| 1 | g.207587496T>A | CA344540869 | CR1 | c.5641T>A (p.Phe1881Ile) c.4291T>A (p.Phe1431Ile) c.1179+21573T>A c.*1406T>A (n.*1406T>A) c.5656T>A (p.Phe1886Ile) c.4306T>A (p.Phe1436Ile) | |
| 1 | g.207587496T>C | CA344540870 | CR1 | c.5641T>C (p.Phe1881Leu) c.4291T>C (p.Phe1431Leu) c.1179+21573T>C c.*1406T>C (n.*1406T>C) c.5656T>C (p.Phe1886Leu) c.4306T>C (p.Phe1436Leu) | |
| 1 | g.207587496T>G | CA344540871 | CR1 | c.5641T>G (p.Phe1881Val) c.4291T>G (p.Phe1431Val) c.1179+21573T>G c.*1406T>G (n.*1406T>G) c.5656T>G (p.Phe1886Val) c.4306T>G (p.Phe1436Val) | |
| 1 | g.207587497T>A | CA344540872 | CR1 | c.5642T>A (p.Phe1881Tyr) c.4292T>A (p.Phe1431Tyr) c.1179+21574T>A c.*1407T>A (n.*1407T>A) c.5657T>A (p.Phe1886Tyr) c.4307T>A (p.Phe1436Tyr) | |
| 1 | g.207587497T>C | CA1370226 | CR1 | c.5642T>C (p.Phe1881Ser) c.4292T>C (p.Phe1431Ser) c.1179+21574T>C c.*1407T>C (n.*1407T>C) c.5657T>C (p.Phe1886Ser) c.4307T>C (p.Phe1436Ser) | dbSNP ExAC gnomAD v2 |
| 1 | g.207587497T>G | CA344540873 | CR1 | c.5642T>G (p.Phe1881Cys) c.4292T>G (p.Phe1431Cys) c.1179+21574T>G c.*1407T>G (n.*1407T>G) c.5657T>G (p.Phe1886Cys) c.4307T>G (p.Phe1436Cys) | |
| 1 | g.207587497T= | CA2483446764 | CR1 | c.5642T= (p.Phe1881=) c.4292T= (p.Phe1431=) c.1179+21574T= c.*1407T= (n.*1407T=) c.5657T= (p.Phe1886=) c.4307T= (p.Phe1436=) | |
| 1 | g.207587498T>A | CA344540874 | CR1 | c.5643T>A (p.Phe1881Leu) c.4293T>A (p.Phe1431Leu) c.1179+21575T>A c.*1408T>A (n.*1408T>A) c.5658T>A (p.Phe1886Leu) c.4308T>A (p.Phe1436Leu) | |
| 1 | g.207587498T>C | CA1370227 | CR1 | c.5643T>C (p.Phe1881=) c.4293T>C (p.Phe1431=) c.1179+21575T>C c.*1408T>C (n.*1408T>C) c.5658T>C (p.Phe1886=) c.4308T>C (p.Phe1436=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207587498T>G | CA344540875 | CR1 | c.5643T>G (p.Phe1881Leu) c.4293T>G (p.Phe1431Leu) c.1179+21575T>G c.*1408T>G (n.*1408T>G) c.5658T>G (p.Phe1886Leu) c.4308T>G (p.Phe1436Leu) | |
| 1 | g.207587498T= | CA2483446765 | CR1 | c.5643T= (p.Phe1881=) c.4293T= (p.Phe1431=) c.1179+21575T= c.*1408T= (n.*1408T=) c.5658T= (p.Phe1886=) c.4308T= (p.Phe1436=) | |
| 1 | g.207587499G>A | CA344540876 | CR1 | c.5644G>A (p.Gly1882Arg) c.4294G>A (p.Gly1432Arg) c.1179+21576G>A c.*1409G>A (n.*1409G>A) c.5659G>A (p.Gly1887Arg) c.4309G>A (p.Gly1437Arg) | |
| 1 | g.207587499G>C | CA344540878 | CR1 | c.5644G>C (p.Gly1882Arg) c.4294G>C (p.Gly1432Arg) c.1179+21576G>C c.*1409G>C (n.*1409G>C) c.5659G>C (p.Gly1887Arg) c.4309G>C (p.Gly1437Arg) | |
| 1 | g.207587499G>T | CA344540877 | CR1 | c.5644G>T (p.Gly1882Trp) c.4294G>T (p.Gly1432Trp) c.1179+21576G>T c.*1409G>T (n.*1409G>T) c.5659G>T (p.Gly1887Trp) c.4309G>T (p.Gly1437Trp) | |
| 1 | g.207587500G>A | CA344540879 | CR1 | c.5645G>A (p.Gly1882Glu) c.4295G>A (p.Gly1432Glu) c.1179+21577G>A c.*1410G>A (n.*1410G>A) c.5660G>A (p.Gly1887Glu) c.4310G>A (p.Gly1437Glu) | gnomAD v4 |
| 1 | g.207587500G>C | CA344540880 | CR1 | c.5645G>C (p.Gly1882Ala) c.4295G>C (p.Gly1432Ala) c.1179+21577G>C c.*1410G>C (n.*1410G>C) c.5660G>C (p.Gly1887Ala) c.4310G>C (p.Gly1437Ala) | |
| 1 | g.207587500G>T | CA344540881 | CR1 | c.5645G>T (p.Gly1882Val) c.4295G>T (p.Gly1432Val) c.1179+21577G>T c.*1410G>T (n.*1410G>T) c.5660G>T (p.Gly1887Val) c.4310G>T (p.Gly1437Val) | gnomAD v4 |
| 1 | g.207587501G>A | CA422967340 | CR1 | c.5646G>A (p.Gly1882=) c.4296G>A (p.Gly1432=) c.1179+21578G>A c.*1411G>A (n.*1411G>A) c.5661G>A (p.Gly1887=) c.4311G>A (p.Gly1437=) | COSMIC COSMIC |
| 1 | g.207587501G>C | CA422967341 | CR1 | c.5646G>C (p.Gly1882=) c.4296G>C (p.Gly1432=) c.1179+21578G>C c.*1411G>C (n.*1411G>C) c.5661G>C (p.Gly1887=) c.4311G>C (p.Gly1437=) | |
| 1 | g.207587501G>T | CA422967342 | CR1 | c.5646G>T (p.Gly1882=) c.4296G>T (p.Gly1432=) c.1179+21578G>T c.*1411G>T (n.*1411G>T) c.5661G>T (p.Gly1887=) c.4311G>T (p.Gly1437=) | |
| 1 | g.207587502A>C | CA344540882 | CR1 | c.5647A>C (p.Lys1883Gln) c.4297A>C (p.Lys1433Gln) c.1179+21579A>C c.*1412A>C (n.*1412A>C) c.5662A>C (p.Lys1888Gln) c.4312A>C (p.Lys1438Gln) | |
| 1 | g.207587502A>G | CA344540883 | CR1 | c.5647A>G (p.Lys1883Glu) c.4297A>G (p.Lys1433Glu) c.1179+21579A>G c.*1412A>G (n.*1412A>G) c.5662A>G (p.Lys1888Glu) c.4312A>G (p.Lys1438Glu) | |
| 1 | g.207587502A>T | CA344540884 | CR1 | c.5647A>T (p.Lys1883Ter) c.4297A>T (p.Lys1433Ter) c.1179+21579A>T c.*1412A>T (n.*1412A>T) c.5662A>T (p.Lys1888Ter) c.4312A>T (p.Lys1438Ter) | |
| 1 | g.207587503A>C | CA344540885 | CR1 | c.5648A>C (p.Lys1883Thr) c.4298A>C (p.Lys1433Thr) c.1179+21580A>C c.*1413A>C (n.*1413A>C) c.5663A>C (p.Lys1888Thr) c.4313A>C (p.Lys1438Thr) | |
| 1 | g.207587503A>G | CA344540886 | CR1 | c.5648A>G (p.Lys1883Arg) c.4298A>G (p.Lys1433Arg) c.1179+21580A>G c.*1413A>G (n.*1413A>G) c.5663A>G (p.Lys1888Arg) c.4313A>G (p.Lys1438Arg) | gnomAD v4 |
| 1 | g.207587503A>T | CA344540887 | CR1 | c.5648A>T (p.Lys1883Ile) c.4298A>T (p.Lys1433Ile) c.1179+21580A>T c.*1413A>T (n.*1413A>T) c.5663A>T (p.Lys1888Ile) c.4313A>T (p.Lys1438Ile) | gnomAD v4 |
| 1 | g.207587504A>C | CA344540888 | CR1 | c.5649A>C (p.Lys1883Asn) c.4299A>C (p.Lys1433Asn) c.1179+21581A>C c.*1414A>C (n.*1414A>C) c.5664A>C (p.Lys1888Asn) c.4314A>C (p.Lys1438Asn) | |
| 1 | g.207587504A>G | CA422967346 | CR1 | c.5649A>G (p.Lys1883=) c.4299A>G (p.Lys1433=) c.1179+21581A>G c.*1414A>G (n.*1414A>G) c.5664A>G (p.Lys1888=) c.4314A>G (p.Lys1438=) | |
| 1 | g.207587504A>T | CA344540889 | CR1 | c.5649A>T (p.Lys1883Asn) c.4299A>T (p.Lys1433Asn) c.1179+21581A>T c.*1414A>T (n.*1414A>T) c.5664A>T (p.Lys1888Asn) c.4314A>T (p.Lys1438Asn) | |
| 1 | g.207587505A>C | CA344540892 | CR1 | c.5650A>C (p.Met1884Leu) c.4300A>C (p.Met1434Leu) c.1179+21582A>C c.*1415A>C (n.*1415A>C) c.5665A>C (p.Met1889Leu) c.4315A>C (p.Met1439Leu) | |
| 1 | g.207587505A>G | CA344540891 | CR1 | c.5650A>G (p.Met1884Val) c.4300A>G (p.Met1434Val) c.1179+21582A>G c.*1415A>G (n.*1415A>G) c.5665A>G (p.Met1889Val) c.4315A>G (p.Met1439Val) | |
| 1 | g.207587505A>T | CA344540890 | CR1 | c.5650A>T (p.Met1884Leu) c.4300A>T (p.Met1434Leu) c.1179+21582A>T c.*1415A>T (n.*1415A>T) c.5665A>T (p.Met1889Leu) c.4315A>T (p.Met1439Leu) | |
| 1 | g.207587506T>A | CA344540893 | CR1 | c.5651T>A (p.Met1884Lys) c.4301T>A (p.Met1434Lys) c.1179+21583T>A c.*1416T>A (n.*1416T>A) c.5666T>A (p.Met1889Lys) c.4316T>A (p.Met1439Lys) | |
| 1 | g.207587506T>C | CA344540894 | CR1 | c.5651T>C (p.Met1884Thr) c.4301T>C (p.Met1434Thr) c.1179+21583T>C c.*1416T>C (n.*1416T>C) c.5666T>C (p.Met1889Thr) c.4316T>C (p.Met1439Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.207587506T>G | CA344540895 | CR1 | c.5651T>G (p.Met1884Arg) c.4301T>G (p.Met1434Arg) c.1179+21583T>G c.*1416T>G (n.*1416T>G) c.5666T>G (p.Met1889Arg) c.4316T>G (p.Met1439Arg) | |
| 1 | g.207587506T= | CA2483446766 | CR1 | c.5651T= (p.Met1884=) c.4301T= (p.Met1434=) c.1179+21583T= c.*1416T= (n.*1416T=) c.5666T= (p.Met1889=) c.4316T= (p.Met1439=) | |
| 1 | g.207587507G>A | CA1370228 | CR1 | c.5652G>A (p.Met1884Ile) c.4302G>A (p.Met1434Ile) c.1179+21584G>A c.*1417G>A (n.*1417G>A) c.5667G>A (p.Met1889Ile) c.4317G>A (p.Met1439Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587507G>C | CA344540896 | CR1 | c.5652G>C (p.Met1884Ile) c.4302G>C (p.Met1434Ile) c.1179+21584G>C c.*1417G>C (n.*1417G>C) c.5667G>C (p.Met1889Ile) c.4317G>C (p.Met1439Ile) | |
| 1 | g.207587507G= | CA1141751113 | CR1 | c.5652G= (p.Met1884=) c.4302G= (p.Met1434=) c.1179+21584G= c.*1417G= (n.*1417G=) c.5667G= (p.Met1889=) c.4317G= (p.Met1439=) | |
| 1 | g.207587507G>T | CA344540897 | CR1 | c.5652G>T (p.Met1884Ile) c.4302G>T (p.Met1434Ile) c.1179+21584G>T c.*1417G>T (n.*1417G>T) c.5667G>T (p.Met1889Ile) c.4317G>T (p.Met1439Ile) | |
| 1 | g.207587508T>A | CA344540898 | CR1 | c.5653T>A (p.Phe1885Ile) c.4303T>A (p.Phe1435Ile) c.1179+21585T>A c.*1418T>A (n.*1418T>A) c.5668T>A (p.Phe1890Ile) c.4318T>A (p.Phe1440Ile) | |
| 1 | g.207587508T>C | CA1370229 | CR1 | c.5653T>C (p.Phe1885Leu) c.4303T>C (p.Phe1435Leu) c.1179+21585T>C c.*1418T>C (n.*1418T>C) c.5668T>C (p.Phe1890Leu) c.4318T>C (p.Phe1440Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587508T>G | CA344540899 | CR1 | c.5653T>G (p.Phe1885Val) c.4303T>G (p.Phe1435Val) c.1179+21585T>G c.*1418T>G (n.*1418T>G) c.5668T>G (p.Phe1890Val) c.4318T>G (p.Phe1440Val) | |
| 1 | g.207587508T= | CA2483446767 | CR1 | c.5653T= (p.Phe1885=) c.4303T= (p.Phe1435=) c.1179+21585T= c.*1418T= (n.*1418T=) c.5668T= (p.Phe1890=) c.4318T= (p.Phe1440=) | |
| 1 | g.207587509T>A | CA344540900 | CR1 | c.5654T>A (p.Phe1885Tyr) c.4304T>A (p.Phe1435Tyr) c.1179+21586T>A c.*1419T>A (n.*1419T>A) c.5669T>A (p.Phe1890Tyr) c.4319T>A (p.Phe1440Tyr) | |
| 1 | g.207587509T>C | CA344540901 | CR1 | c.5654T>C (p.Phe1885Ser) c.4304T>C (p.Phe1435Ser) c.1179+21586T>C c.*1419T>C (n.*1419T>C) c.5669T>C (p.Phe1890Ser) c.4319T>C (p.Phe1440Ser) | |
| 1 | g.207587509T>G | CA344540902 | CR1 | c.5654T>G (p.Phe1885Cys) c.4304T>G (p.Phe1435Cys) c.1179+21586T>G c.*1419T>G (n.*1419T>G) c.5669T>G (p.Phe1890Cys) c.4319T>G (p.Phe1440Cys) | |
| 1 | g.207587510C>A | CA344540904 | CR1 | c.5655C>A (p.Phe1885Leu) c.4305C>A (p.Phe1435Leu) c.1179+21587C>A c.*1420C>A (n.*1420C>A) c.5670C>A (p.Phe1890Leu) c.4320C>A (p.Phe1440Leu) | |
| 1 | g.207587510C>G | CA344540903 | CR1 | c.5655C>G (p.Phe1885Leu) c.4305C>G (p.Phe1435Leu) c.1179+21587C>G c.*1420C>G (n.*1420C>G) c.5670C>G (p.Phe1890Leu) c.4320C>G (p.Phe1440Leu) | |
| 1 | g.207587510C>T | CA422967348 | CR1 | c.5655C>T (p.Phe1885=) c.4305C>T (p.Phe1435=) c.1179+21587C>T c.*1420C>T (n.*1420C>T) c.5670C>T (p.Phe1890=) c.4320C>T (p.Phe1440=) | COSMIC COSMIC |
| 1 | g.207587511T>A | CA344540905 | CR1 | c.5656T>A (p.Ser1886Thr) c.4306T>A (p.Ser1436Thr) c.1179+21588T>A c.*1421T>A (n.*1421T>A) c.5671T>A (p.Ser1891Thr) c.4321T>A (p.Ser1441Thr) | |
| 1 | g.207587511T>C | CA344540906 | CR1 | c.5656T>C (p.Ser1886Pro) c.4306T>C (p.Ser1436Pro) c.1179+21588T>C c.*1421T>C (n.*1421T>C) c.5671T>C (p.Ser1891Pro) c.4321T>C (p.Ser1441Pro) | |
| 1 | g.207587511T>G | CA344540907 | CR1 | c.5656T>G (p.Ser1886Ala) c.4306T>G (p.Ser1436Ala) c.1179+21588T>G c.*1421T>G (n.*1421T>G) c.5671T>G (p.Ser1891Ala) c.4321T>G (p.Ser1441Ala) | |
| 1 | g.207587512C>A | CA344540908 | CR1 | c.5657C>A (p.Ser1886Tyr) c.4307C>A (p.Ser1436Tyr) c.1179+21589C>A c.*1422C>A (n.*1422C>A) c.5672C>A (p.Ser1891Tyr) c.4322C>A (p.Ser1441Tyr) | gnomAD v4 |
| 1 | g.207587512C= | CA2483446768 | CR1 | c.5657C= (p.Ser1886=) c.4307C= (p.Ser1436=) c.1179+21589C= c.*1422C= (n.*1422C=) c.5672C= (p.Ser1891=) c.4322C= (p.Ser1441=) | |
| 1 | g.207587512C>G | CA344540909 | CR1 | c.5657C>G (p.Ser1886Cys) c.4307C>G (p.Ser1436Cys) c.1179+21589C>G c.*1422C>G (n.*1422C>G) c.5672C>G (p.Ser1891Cys) c.4322C>G (p.Ser1441Cys) | COSMIC COSMIC |
| 1 | g.207587512C>T | CA36647332 | CR1 | c.5657C>T (p.Ser1886Phe) c.4307C>T (p.Ser1436Phe) c.1179+21589C>T c.*1422C>T (n.*1422C>T) c.5672C>T (p.Ser1891Phe) c.4322C>T (p.Ser1441Phe) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.207587513T>A | CA422967349 | CR1 | c.5658T>A (p.Ser1886=) c.4308T>A (p.Ser1436=) c.1179+21590T>A c.*1423T>A (n.*1423T>A) c.5673T>A (p.Ser1891=) c.4323T>A (p.Ser1441=) | |
| 1 | g.207587513T>C | CA422967350 | CR1 | c.5658T>C (p.Ser1886=) c.4308T>C (p.Ser1436=) c.1179+21590T>C c.*1423T>C (n.*1423T>C) c.5673T>C (p.Ser1891=) c.4323T>C (p.Ser1441=) | |
| 1 | g.207587513T>G | CA422967352 | CR1 | c.5658T>G (p.Ser1886=) c.4308T>G (p.Ser1436=) c.1179+21590T>G c.*1423T>G (n.*1423T>G) c.5673T>G (p.Ser1891=) c.4323T>G (p.Ser1441=) | |
| 1 | g.207587514A= | CA1144051393 | CR1 | c.5659A= (p.Ile1887=) c.4309A= (p.Ile1437=) c.1179+21591A= c.*1424A= (n.*1424A=) c.5674A= (p.Ile1892=) c.4324A= (p.Ile1442=) | |
| 1 | g.207587514A>C | CA344540910 | CR1 | c.5659A>C (p.Ile1887Leu) c.4309A>C (p.Ile1437Leu) c.1179+21591A>C c.*1424A>C (n.*1424A>C) c.5674A>C (p.Ile1892Leu) c.4324A>C (p.Ile1442Leu) | |
| 1 | g.207587514A>G | CA1370230 | CR1 | c.5659A>G (p.Ile1887Val) c.4309A>G (p.Ile1437Val) c.1179+21591A>G c.*1424A>G (n.*1424A>G) c.5674A>G (p.Ile1892Val) c.4324A>G (p.Ile1442Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587514A>T | CA344540911 | CR1 | c.5659A>T (p.Ile1887Phe) c.4309A>T (p.Ile1437Phe) c.1179+21591A>T c.*1424A>T (n.*1424A>T) c.5674A>T (p.Ile1892Phe) c.4324A>T (p.Ile1442Phe) | |
| 1 | g.207587515T>A | CA344540912 | CR1 | c.5660T>A (p.Ile1887Asn) c.4310T>A (p.Ile1437Asn) c.1179+21592T>A c.*1425T>A (n.*1425T>A) c.5675T>A (p.Ile1892Asn) c.4325T>A (p.Ile1442Asn) | |
| 1 | g.207587515T>C | CA344540913 | CR1 | c.5660T>C (p.Ile1887Thr) c.4310T>C (p.Ile1437Thr) c.1179+21592T>C c.*1425T>C (n.*1425T>C) c.5675T>C (p.Ile1892Thr) c.4325T>C (p.Ile1442Thr) | |
| 1 | g.207587515T>G | CA344540914 | CR1 | c.5660T>G (p.Ile1887Ser) c.4310T>G (p.Ile1437Ser) c.1179+21592T>G c.*1425T>G (n.*1425T>G) c.5675T>G (p.Ile1892Ser) c.4325T>G (p.Ile1442Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.207587515T= | CA2483446769 | CR1 | c.5660T= (p.Ile1887=) c.4310T= (p.Ile1437=) c.1179+21592T= c.*1425T= (n.*1425T=) c.5675T= (p.Ile1892=) c.4325T= (p.Ile1442=) | |
| 1 | g.207587516C>A | CA422967353 | CR1 | c.5661C>A (p.Ile1887=) c.4311C>A (p.Ile1437=) c.1179+21593C>A c.*1426C>A (n.*1426C>A) c.5676C>A (p.Ile1892=) c.4326C>A (p.Ile1442=) | |
| 1 | g.207587516C>G | CA344540915 | CR1 | c.5661C>G (p.Ile1887Met) c.4311C>G (p.Ile1437Met) c.1179+21593C>G c.*1426C>G (n.*1426C>G) c.5676C>G (p.Ile1892Met) c.4326C>G (p.Ile1442Met) | |
| 1 | g.207587516C>T | CA422967354 | CR1 | c.5661C>T (p.Ile1887=) c.4311C>T (p.Ile1437=) c.1179+21593C>T c.*1426C>T (n.*1426C>T) c.5676C>T (p.Ile1892=) c.4326C>T (p.Ile1442=) | |
| 1 | g.207587517T>A | CA344540917 | CR1 | c.5662T>A (p.Ser1888Thr) c.4312T>A (p.Ser1438Thr) c.1179+21594T>A c.*1427T>A (n.*1427T>A) c.5677T>A (p.Ser1893Thr) c.4327T>A (p.Ser1443Thr) | |
| 1 | g.207587517T>C | CA1370231 | CR1 | c.5662T>C (p.Ser1888Pro) c.4312T>C (p.Ser1438Pro) c.1179+21594T>C c.*1427T>C (n.*1427T>C) c.5677T>C (p.Ser1893Pro) c.4327T>C (p.Ser1443Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.207587517T>G | CA344540916 | CR1 | c.5662T>G (p.Ser1888Ala) c.4312T>G (p.Ser1438Ala) c.1179+21594T>G c.*1427T>G (n.*1427T>G) c.5677T>G (p.Ser1893Ala) c.4327T>G (p.Ser1443Ala) | |
| 1 | g.207587517T= | CA1148409483 | CR1 | c.5662T= (p.Ser1888=) c.4312T= (p.Ser1438=) c.1179+21594T= c.*1427T= (n.*1427T=) c.5677T= (p.Ser1893=) c.4327T= (p.Ser1443=) | |
| 1 | g.207587518C>A | CA344540918 | CR1 | c.5663C>A (p.Ser1888Tyr) c.4313C>A (p.Ser1438Tyr) c.1179+21595C>A c.*1428C>A (n.*1428C>A) c.5678C>A (p.Ser1893Tyr) c.4328C>A (p.Ser1443Tyr) | |
| 1 | g.207587518C= | CA2483446770 | CR1 | c.5663C= (p.Ser1888=) c.4313C= (p.Ser1438=) c.1179+21595C= c.*1428C= (n.*1428C=) c.5678C= (p.Ser1893=) c.4328C= (p.Ser1443=) | |
| 1 | g.207587518C>G | CA344540919 | CR1 | c.5663C>G (p.Ser1888Cys) c.4313C>G (p.Ser1438Cys) c.1179+21595C>G c.*1428C>G (n.*1428C>G) c.5678C>G (p.Ser1893Cys) c.4328C>G (p.Ser1443Cys) | gnomAD v4 |
| 1 | g.207587518C>T | CA1370232 | CR1 | c.5663C>T (p.Ser1888Phe) c.4313C>T (p.Ser1438Phe) c.1179+21595C>T c.*1428C>T (n.*1428C>T) c.5678C>T (p.Ser1893Phe) c.4328C>T (p.Ser1443Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.207587519C>A | CA422967358 | CR1 | c.5664C>A (p.Ser1888=) c.4314C>A (p.Ser1438=) c.1179+21596C>A c.*1429C>A (n.*1429C>A) c.5679C>A (p.Ser1893=) c.4329C>A (p.Ser1443=) | |
| 1 | g.207587519C>G | CA422967356 | CR1 | c.5664C>G (p.Ser1888=) c.4314C>G (p.Ser1438=) c.1179+21596C>G c.*1429C>G (n.*1429C>G) c.5679C>G (p.Ser1893=) c.4329C>G (p.Ser1443=) | |
| 1 | g.207587519C>T | CA422967357 | CR1 | c.5664C>T (p.Ser1888=) c.4314C>T (p.Ser1438=) c.1179+21596C>T c.*1429C>T (n.*1429C>T) c.5679C>T (p.Ser1893=) c.4329C>T (p.Ser1443=) | |
| 1 | g.207587520T>A | CA344540920 | CR1 | c.5665T>A (p.Cys1889Ser) c.4315T>A (p.Cys1439Ser) c.1179+21597T>A c.*1430T>A (n.*1430T>A) c.5680T>A (p.Cys1894Ser) c.4330T>A (p.Cys1444Ser) | |
| 1 | g.207587520T>C | CA344540921 | CR1 | c.5665T>C (p.Cys1889Arg) c.4315T>C (p.Cys1439Arg) c.1179+21597T>C c.*1430T>C (n.*1430T>C) c.5680T>C (p.Cys1894Arg) c.4330T>C (p.Cys1444Arg) | gnomAD v4 |
| 1 | g.207587520T>G | CA344540922 | CR1 | c.5665T>G (p.Cys1889Gly) c.4315T>G (p.Cys1439Gly) c.1179+21597T>G c.*1430T>G (n.*1430T>G) c.5680T>G (p.Cys1894Gly) c.4330T>G (p.Cys1444Gly) | |
| 1 | g.207587521G>A | CA344540923 | CR1 | c.5666G>A (p.Cys1889Tyr) c.4316G>A (p.Cys1439Tyr) c.1179+21598G>A c.*1431G>A (n.*1431G>A) c.5681G>A (p.Cys1894Tyr) c.4331G>A (p.Cys1444Tyr) | |
| 1 | g.207587521G>C | CA344540925 | CR1 | c.5666G>C (p.Cys1889Ser) c.4316G>C (p.Cys1439Ser) c.1179+21598G>C c.*1431G>C (n.*1431G>C) c.5681G>C (p.Cys1894Ser) c.4331G>C (p.Cys1444Ser) | |
| 1 | g.207587521G= | CA2483446771 | CR1 | c.5666G= (p.Cys1889=) c.4316G= (p.Cys1439=) c.1179+21598G= c.*1431G= (n.*1431G=) c.5681G= (p.Cys1894=) c.4331G= (p.Cys1444=) | |
| 1 | g.207587521G>T | CA344540924 | CR1 | c.5666G>T (p.Cys1889Phe) c.4316G>T (p.Cys1439Phe) c.1179+21598G>T c.*1431G>T (n.*1431G>T) c.5681G>T (p.Cys1894Phe) c.4331G>T (p.Cys1444Phe) | dbSNP gnomAD v4 |
| 1 | g.207587522C>A | CA344540926 | CR1 | c.5667C>A (p.Cys1889Ter) c.4317C>A (p.Cys1439Ter) c.1179+21599C>A c.*1432C>A (n.*1432C>A) c.5682C>A (p.Cys1894Ter) c.4332C>A (p.Cys1444Ter) | |
| 1 | g.207587522C>G | CA344540927 | CR1 | c.5667C>G (p.Cys1889Trp) c.4317C>G (p.Cys1439Trp) c.1179+21599C>G c.*1432C>G (n.*1432C>G) c.5682C>G (p.Cys1894Trp) c.4332C>G (p.Cys1444Trp) | |
| 1 | g.207587522C>T | CA422967359 | CR1 | c.5667C>T (p.Cys1889=) c.4317C>T (p.Cys1439=) c.1179+21599C>T c.*1432C>T (n.*1432C>T) c.5682C>T (p.Cys1894=) c.4332C>T (p.Cys1444=) | |
| 1 | g.207587523C>A | CA344540928 | CR1 | c.5668C>A (p.Leu1890Ile) c.4318C>A (p.Leu1440Ile) c.1179+21600C>A c.*1433C>A (n.*1433C>A) c.5683C>A (p.Leu1895Ile) c.4333C>A (p.Leu1445Ile) | |
| 1 | g.207587523C= | CA2483446772 | CR1 | c.5668C= (p.Leu1890=) c.4318C= (p.Leu1440=) c.1179+21600C= c.*1433C= (n.*1433C=) c.5683C= (p.Leu1895=) c.4333C= (p.Leu1445=) | |
| 1 | g.207587523C>G | CA344540929 | CR1 | c.5668C>G (p.Leu1890Val) c.4318C>G (p.Leu1440Val) c.1179+21600C>G c.*1433C>G (n.*1433C>G) c.5683C>G (p.Leu1895Val) c.4333C>G (p.Leu1445Val) | |
| 1 | g.207587523C>T | CA36647338 | CR1 | c.5668C>T (p.Leu1890=) c.4318C>T (p.Leu1440=) c.1179+21600C>T c.*1433C>T (n.*1433C>T) c.5683C>T (p.Leu1895=) c.4333C>T (p.Leu1445=) | dbSNP |
| 1 | g.207587524T>A | CA344540930 | CR1 | c.5669T>A (p.Leu1890Gln) c.4319T>A (p.Leu1440Gln) c.1179+21601T>A c.*1434T>A (n.*1434T>A) c.5684T>A (p.Leu1895Gln) c.4334T>A (p.Leu1445Gln) | |
| 1 | g.207587524T>C | CA344540932 | CR1 | c.5669T>C (p.Leu1890Pro) c.4319T>C (p.Leu1440Pro) c.1179+21601T>C c.*1434T>C (n.*1434T>C) c.5684T>C (p.Leu1895Pro) c.4334T>C (p.Leu1445Pro) | |
| 1 | g.207587524T>G | CA344540931 | CR1 | c.5669T>G (p.Leu1890Arg) c.4319T>G (p.Leu1440Arg) c.1179+21601T>G c.*1434T>G (n.*1434T>G) c.5684T>G (p.Leu1895Arg) c.4334T>G (p.Leu1445Arg) | |
| 1 | g.207587525A>C | CA422967363 | CR1 | c.5670A>C (p.Leu1890=) c.4320A>C (p.Leu1440=) c.1179+21602A>C c.*1435A>C (n.*1435A>C) c.5685A>C (p.Leu1895=) c.4335A>C (p.Leu1445=) | |
| 1 | g.207587525A>G | CA422967361 | CR1 | c.5670A>G (p.Leu1890=) c.4320A>G (p.Leu1440=) c.1179+21602A>G c.*1435A>G (n.*1435A>G) c.5685A>G (p.Leu1895=) c.4335A>G (p.Leu1445=) | |
| 1 | g.207587525A>T | CA422967362 | CR1 | c.5670A>T (p.Leu1890=) c.4320A>T (p.Leu1440=) c.1179+21602A>T c.*1435A>T (n.*1435A>T) c.5685A>T (p.Leu1895=) c.4335A>T (p.Leu1445=) | |
| 1 | g.207587526G>A | CA344540933 | CR1 | c.5671G>A (p.Glu1891Lys) c.4321G>A (p.Glu1441Lys) c.1179+21603G>A c.*1436G>A (n.*1436G>A) c.5686G>A (p.Glu1896Lys) c.4336G>A (p.Glu1446Lys) | |
| 1 | g.207587526G>C | CA344540935 | CR1 | c.5671G>C (p.Glu1891Gln) c.4321G>C (p.Glu1441Gln) c.1179+21603G>C c.*1436G>C (n.*1436G>C) c.5686G>C (p.Glu1896Gln) c.4336G>C (p.Glu1446Gln) | |
| 1 | g.207587526G>T | CA344540934 | CR1 | c.5671G>T (p.Glu1891Ter) c.4321G>T (p.Glu1441Ter) c.1179+21603G>T c.*1436G>T (n.*1436G>T) c.5686G>T (p.Glu1896Ter) c.4336G>T (p.Glu1446Ter) | |
| 1 | g.207587527A>C | CA344540936 | CR1 | c.5672A>C (p.Glu1891Ala) c.4322A>C (p.Glu1441Ala) c.1179+21604A>C c.*1437A>C (n.*1437A>C) c.5687A>C (p.Glu1896Ala) c.4337A>C (p.Glu1446Ala) | |
| 1 | g.207587527A>G | CA344540938 | CR1 | c.5672A>G (p.Glu1891Gly) c.4322A>G (p.Glu1441Gly) c.1179+21604A>G c.*1437A>G (n.*1437A>G) c.5687A>G (p.Glu1896Gly) c.4337A>G (p.Glu1446Gly) | gnomAD v4 |
| 1 | g.207587527A>T | CA344540937 | CR1 | c.5672A>T (p.Glu1891Val) c.4322A>T (p.Glu1441Val) c.1179+21604A>T c.*1437A>T (n.*1437A>T) c.5687A>T (p.Glu1896Val) c.4337A>T (p.Glu1446Val) | |
| 1 | g.207587528A>C | CA344540939 | CR1 | c.5673A>C (p.Glu1891Asp) c.4323A>C (p.Glu1441Asp) c.1179+21605A>C c.*1438A>C (n.*1438A>C) c.5688A>C (p.Glu1896Asp) c.4338A>C (p.Glu1446Asp) | |
| 1 | g.207587528A>G | CA422967364 | CR1 | c.5673A>G (p.Glu1891=) c.4323A>G (p.Glu1441=) c.1179+21605A>G c.*1438A>G (n.*1438A>G) c.5688A>G (p.Glu1896=) c.4338A>G (p.Glu1446=) | |
| 1 | g.207587528A>T | CA344540940 | CR1 | c.5673A>T (p.Glu1891Asp) c.4323A>T (p.Glu1441Asp) c.1179+21605A>T c.*1438A>T (n.*1438A>T) c.5688A>T (p.Glu1896Asp) c.4338A>T (p.Glu1446Asp) |