| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19766712_19766733dup | CA16621037 | TBX1 | c.1360_1381dup (p.Pro461ArgfsTer?) c.1009+710_1009+731dup (n.1009+710_1009+731dup) c.1333_1354dup (p.Pro452ArgfsTer?) c.1483_1504dup (p.Pro502ArgfsTer?) c.688_709dup (p.Pro237ArgfsTer?) c.1159+710_1159+731dup (n.1159+710_1159+731dup) | ClinVar dbSNP |
| 22 | g.19766713_19766736dup | CA920336490 | TBX1 | c.1361_1384dup (p.Pro461_His462insArgTyrHisProHisAlaHisPro) c.1009+711_1009+734dup (n.1009+711_1009+734dup) c.1334_1357dup (p.Pro452_His453insArgTyrHisProHisAlaHisPro) c.1484_1507dup (p.Pro502_His503insArgTyrHisProHisAlaHisPro) c.689_712dup (p.Pro237_His238insArgTyrHisProHisAlaHisPro) c.1159+711_1159+734dup (n.1159+711_1159+734dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19766723_19766752dup | CA2655306521 | TBX1 | c.1371_1400dup (p.Pro467_Val468insHisAlaHisProHisHisHisHisHisPro) c.1009+721_1009+750dup (n.1009+721_1009+750dup) c.1344_1373dup (p.Pro458_Val459insHisAlaHisProHisHisHisHisHisPro) c.1494_1523dup (p.Pro508_Val509insHisAlaHisProHisHisHisHisHisPro) c.699_728dup (p.Pro243_Val244insHisAlaHisProHisHisHisHisHisPro) c.1159+721_1159+750dup (n.1159+721_1159+750dup) | gnomAD v4 |
| 22 | g.19766727_19766738dup | CA638504357 | TBX1 | c.1375_1386dup (p.His462_His463insAlaHisProHis) c.1009+725_1009+736dup (n.1009+725_1009+736dup) c.1348_1359dup (p.His453_His454insAlaHisProHis) c.1498_1509dup (p.His503_His504insAlaHisProHis) c.703_714dup (p.His238_His239insAlaHisProHis) c.1159+725_1159+736dup (n.1159+725_1159+736dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766727_19766732dup | CA1024131808 | TBX1 | c.1375_1380dup (p.His460_Pro461insAlaHis) c.1009+725_1009+730dup (n.1009+725_1009+730dup) c.1348_1353dup (p.His451_Pro452insAlaHis) c.1498_1503dup (p.His501_Pro502insAlaHis) c.703_708dup (p.His236_Pro237insAlaHis) c.1159+725_1159+730dup (n.1159+725_1159+730dup) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19766732T>A | CA410685215 | TBX1 | c.1380T>A (p.His460Gln) c.1009+730T>A (n.1009+730T>A) c.1353T>A (p.His451Gln) c.1503T>A (p.His501Gln) c.708T>A (p.His236Gln) c.1159+730T>A (n.1159+730T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766732T>C | CA10102730 | TBX1 | c.1380T>C (p.His460=) c.1009+730T>C (n.1009+730T>C) c.1353T>C (p.His451=) c.1503T>C (p.His501=) c.708T>C (p.His236=) c.1159+730T>C (n.1159+730T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766732T>G | CA10102731 | TBX1 | c.1380T>G (p.His460Gln) c.1009+730T>G (n.1009+730T>G) c.1353T>G (p.His451Gln) c.1503T>G (p.His501Gln) c.708T>G (p.His236Gln) c.1159+730T>G (n.1159+730T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766732T= | CA2396032500 | TBX1 | c.1380T= (p.His460=) c.1009+730T= (n.1009+730T=) c.1353T= (p.His451=) c.1503T= (p.His501=) c.708T= (p.His236=) c.1159+730T= (n.1159+730T=) | |
| 22 | g.19766733C>A | CA410685218 | TBX1 | c.1381C>A (p.Pro461Thr) c.1009+731C>A (n.1009+731C>A) c.1354C>A (p.Pro452Thr) c.1504C>A (p.Pro502Thr) c.709C>A (p.Pro237Thr) c.1159+731C>A (n.1159+731C>A) | gnomAD v4 |
| 22 | g.19766733C>G | CA410685221 | TBX1 | c.1381C>G (p.Pro461Ala) c.1009+731C>G (n.1009+731C>G) c.1354C>G (p.Pro452Ala) c.1504C>G (p.Pro502Ala) c.709C>G (p.Pro237Ala) c.1159+731C>G (n.1159+731C>G) | gnomAD v4 |
| 22 | g.19766733C>T | CA410685219 | TBX1 | c.1381C>T (p.Pro461Ser) c.1009+731C>T (n.1009+731C>T) c.1354C>T (p.Pro452Ser) c.1504C>T (p.Pro502Ser) c.709C>T (p.Pro237Ser) c.1159+731C>T (n.1159+731C>T) | ClinVar gnomAD v4 |
| 22 | g.19766734C>A | CA410685223 | TBX1 | c.1382C>A (p.Pro461Gln) c.1009+732C>A (n.1009+732C>A) c.1355C>A (p.Pro452Gln) c.1505C>A (p.Pro502Gln) c.710C>A (p.Pro237Gln) c.1159+732C>A (n.1159+732C>A) | gnomAD v4 |
| 22 | g.19766734C= | CA2396032501 | TBX1 | c.1382C= (p.Pro461=) c.1009+732C= (n.1009+732C=) c.1355C= (p.Pro452=) c.1505C= (p.Pro502=) c.710C= (p.Pro237=) c.1159+732C= (n.1159+732C=) | |
| 22 | g.19766734C>G | CA410685225 | TBX1 | c.1382C>G (p.Pro461Arg) c.1009+732C>G (n.1009+732C>G) c.1355C>G (p.Pro452Arg) c.1505C>G (p.Pro502Arg) c.710C>G (p.Pro237Arg) c.1159+732C>G (n.1159+732C>G) | |
| 22 | g.19766734C>T | CA410685226 | TBX1 | c.1382C>T (p.Pro461Leu) c.1009+732C>T (n.1009+732C>T) c.1355C>T (p.Pro452Leu) c.1505C>T (p.Pro502Leu) c.710C>T (p.Pro237Leu) c.1159+732C>T (n.1159+732C>T) | ClinVar dbSNP gnomAD v4 |
| 22 | g.19766735G>A | CA513687369 | TBX1 | c.1383G>A (p.Pro461=) c.1009+733G>A (n.1009+733G>A) c.1356G>A (p.Pro452=) c.1506G>A (p.Pro502=) c.711G>A (p.Pro237=) c.1159+733G>A (n.1159+733G>A) | gnomAD v4 |
| 22 | g.19766735G>C | CA513687370 | TBX1 | c.1383G>C (p.Pro461=) c.1009+733G>C (n.1009+733G>C) c.1356G>C (p.Pro452=) c.1506G>C (p.Pro502=) c.711G>C (p.Pro237=) c.1159+733G>C (n.1159+733G>C) | gnomAD v4 |
| 22 | g.19766735G>T | CA513687371 | TBX1 | c.1383G>T (p.Pro461=) c.1009+733G>T (n.1009+733G>T) c.1356G>T (p.Pro452=) c.1506G>T (p.Pro502=) c.711G>T (p.Pro237=) c.1159+733G>T (n.1159+733G>T) | gnomAD v4 |
| 22 | g.19766735_19766741delinsGCACCAC | CA2396032502 | TBX1 | c.1383_1389delinsGCACCAC (p.Pro461=) c.1009+733_1009+739delinsGCACCAC (n.1009+733_1009+739delinsGCACCAC) c.1356_1362delinsGCACCAC (p.Pro452=) c.1506_1512delinsGCACCAC (p.Pro502=) c.711_717delinsGCACCAC (p.Pro237=) c.1159+733_1159+739delinsGCACCAC (n.1159+733_1159+739delinsGCACCAC) | |
| 22 | g.19766736C>A | CA410685240 | TBX1 | c.1384C>A (p.His462Asn) c.1009+734C>A (n.1009+734C>A) c.1357C>A (p.His453Asn) c.1507C>A (p.His503Asn) c.712C>A (p.His238Asn) c.1159+734C>A (n.1159+734C>A) | gnomAD v4 |
| 22 | g.19766736C= | CA2396032503 | TBX1 | c.1384C= (p.His462=) c.1009+734C= (n.1009+734C=) c.1357C= (p.His453=) c.1507C= (p.His503=) c.712C= (p.His238=) c.1159+734C= (n.1159+734C=) | |
| 22 | g.19766736C>G | CA410685238 | TBX1 | c.1384C>G (p.His462Asp) c.1009+734C>G (n.1009+734C>G) c.1357C>G (p.His453Asp) c.1507C>G (p.His503Asp) c.712C>G (p.His238Asp) c.1159+734C>G (n.1159+734C>G) | |
| 22 | g.19766736C>T | CA410685242 | TBX1 | c.1384C>T (p.His462Tyr) c.1009+734C>T (n.1009+734C>T) c.1357C>T (p.His453Tyr) c.1507C>T (p.His503Tyr) c.712C>T (p.His238Tyr) c.1159+734C>T (n.1159+734C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19766749_19766751dup | CA10102733 | TBX1 | c.1397_1399dup (p.His466_Pro467insHis) c.1009+747_1009+749dup (n.1009+747_1009+749dup) c.1370_1372dup (p.His457_Pro458insHis) c.1520_1522dup (p.His507_Pro508insHis) c.725_727dup (p.His242_Pro243insHis) c.1159+747_1159+749dup (n.1159+747_1159+749dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766746_19766751dup | CA638504358 | TBX1 | c.1394_1399dup (p.His466_Pro467insHisHis) c.1009+744_1009+749dup (n.1009+744_1009+749dup) c.1367_1372dup (p.His457_Pro458insHisHis) c.1517_1522dup (p.His507_Pro508insHisHis) c.722_727dup (p.His242_Pro243insHisHis) c.1159+744_1159+749dup (n.1159+744_1159+749dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766743_19766751dup | CA2655306524 | TBX1 | c.1391_1399dup (p.His466_Pro467insHisHisHis) c.1009+741_1009+749dup (n.1009+741_1009+749dup) c.1364_1372dup (p.His457_Pro458insHisHisHis) c.1514_1522dup (p.His507_Pro508insHisHisHis) c.719_727dup (p.His242_Pro243insHisHisHis) c.1159+741_1159+749dup (n.1159+741_1159+749dup) | gnomAD v4 |
| 22 | g.19766749_19766751del | CA10102732 | TBX1 | c.1397_1399del (p.His466del) c.1009+747_1009+749del (n.1009+747_1009+749del) c.1370_1372del (p.His457del) c.1520_1522del (p.His507del) c.725_727del (p.His242del) c.1159+747_1159+749del (n.1159+747_1159+749del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766746_19766751del | CA10102734 | TBX1 | c.1394_1399del (p.His465_His466del) c.1009+744_1009+749del (n.1009+744_1009+749del) c.1367_1372del (p.His456_His457del) c.1517_1522del (p.His506_His507del) c.722_727del (p.His241_His242del) c.1159+744_1159+749del (n.1159+744_1159+749del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766737A>C | CA410685245 | TBX1 | c.1385A>C (p.His462Pro) c.1009+735A>C (n.1009+735A>C) c.1358A>C (p.His453Pro) c.1508A>C (p.His503Pro) c.713A>C (p.His238Pro) c.1159+735A>C (n.1159+735A>C) | |
| 22 | g.19766737A>G | CA410685247 | TBX1 | c.1385A>G (p.His462Arg) c.1009+735A>G (n.1009+735A>G) c.1358A>G (p.His453Arg) c.1508A>G (p.His503Arg) c.713A>G (p.His238Arg) c.1159+735A>G (n.1159+735A>G) | gnomAD v4 |
| 22 | g.19766737A>T | CA410685248 | TBX1 | c.1385A>T (p.His462Leu) c.1009+735A>T (n.1009+735A>T) c.1358A>T (p.His453Leu) c.1508A>T (p.His503Leu) c.713A>T (p.His238Leu) c.1159+735A>T (n.1159+735A>T) | |
| 22 | g.19766738C>A | CA410685249 | TBX1 | c.1386C>A (p.His462Gln) c.1009+736C>A (n.1009+736C>A) c.1359C>A (p.His453Gln) c.1509C>A (p.His503Gln) c.714C>A (p.His238Gln) c.1159+736C>A (n.1159+736C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19766738C= | CA2396032504 | TBX1 | c.1386C= (p.His462=) c.1009+736C= (n.1009+736C=) c.1359C= (p.His453=) c.1509C= (p.His503=) c.714C= (p.His238=) c.1159+736C= (n.1159+736C=) | |
| 22 | g.19766738C>G | CA410685251 | TBX1 | c.1386C>G (p.His462Gln) c.1009+736C>G (n.1009+736C>G) c.1359C>G (p.His453Gln) c.1509C>G (p.His503Gln) c.714C>G (p.His238Gln) c.1159+736C>G (n.1159+736C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19766738C>T | CA513687372 | TBX1 | c.1386C>T (p.His462=) c.1009+736C>T (n.1009+736C>T) c.1359C>T (p.His453=) c.1509C>T (p.His503=) c.714C>T (p.His238=) c.1159+736C>T (n.1159+736C>T) | gnomAD v4 |
| 22 | g.19766739C>A | CA410685254 | TBX1 | c.1387C>A (p.His463Asn) c.1009+737C>A (n.1009+737C>A) c.1360C>A (p.His454Asn) c.1510C>A (p.His504Asn) c.715C>A (p.His239Asn) c.1159+737C>A (n.1159+737C>A) | ClinVar gnomAD v4 |
| 22 | g.19766739C>G | CA410685258 | TBX1 | c.1387C>G (p.His463Asp) c.1009+737C>G (n.1009+737C>G) c.1360C>G (p.His454Asp) c.1510C>G (p.His504Asp) c.715C>G (p.His239Asp) c.1159+737C>G (n.1159+737C>G) | |
| 22 | g.19766739C>T | CA410685256 | TBX1 | c.1387C>T (p.His463Tyr) c.1009+737C>T (n.1009+737C>T) c.1360C>T (p.His454Tyr) c.1510C>T (p.His504Tyr) c.715C>T (p.His239Tyr) c.1159+737C>T (n.1159+737C>T) | |
| 22 | g.19766740A= | CA2396032505 | TBX1 | c.1388A= (p.His463=) c.1009+738A= (n.1009+738A=) c.1361A= (p.His454=) c.1511A= (p.His504=) c.716A= (p.His239=) c.1159+738A= (n.1159+738A=) | |
| 22 | g.19766740A>C | CA410685260 | TBX1 | c.1388A>C (p.His463Pro) c.1009+738A>C (n.1009+738A>C) c.1361A>C (p.His454Pro) c.1511A>C (p.His504Pro) c.716A>C (p.His239Pro) c.1159+738A>C (n.1159+738A>C) | |
| 22 | g.19766740A>G | CA410685261 | TBX1 | c.1388A>G (p.His463Arg) c.1009+738A>G (n.1009+738A>G) c.1361A>G (p.His454Arg) c.1511A>G (p.His504Arg) c.716A>G (p.His239Arg) c.1159+738A>G (n.1159+738A>G) | ClinVar dbSNP gnomAD v4 |
| 22 | g.19766740A>T | CA410685262 | TBX1 | c.1388A>T (p.His463Leu) c.1009+738A>T (n.1009+738A>T) c.1361A>T (p.His454Leu) c.1511A>T (p.His504Leu) c.716A>T (p.His239Leu) c.1159+738A>T (n.1159+738A>T) | gnomAD v4 |
| 22 | g.19766741C>A | CA410685264 | TBX1 | c.1389C>A (p.His463Gln) c.1009+739C>A (n.1009+739C>A) c.1362C>A (p.His454Gln) c.1512C>A (p.His504Gln) c.717C>A (p.His239Gln) c.1159+739C>A (n.1159+739C>A) | gnomAD v4 |
| 22 | g.19766741C= | CA2396032506 | TBX1 | c.1389C= (p.His463=) c.1009+739C= (n.1009+739C=) c.1362C= (p.His454=) c.1512C= (p.His504=) c.717C= (p.His239=) c.1159+739C= (n.1159+739C=) | |
| 22 | g.19766741C>G | CA410685265 | TBX1 | c.1389C>G (p.His463Gln) c.1009+739C>G (n.1009+739C>G) c.1362C>G (p.His454Gln) c.1512C>G (p.His504Gln) c.717C>G (p.His239Gln) c.1159+739C>G (n.1159+739C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19766741C>T | CA10102735 | TBX1 | c.1389C>T (p.His463=) c.1009+739C>T (n.1009+739C>T) c.1362C>T (p.His454=) c.1512C>T (p.His504=) c.717C>T (p.His239=) c.1159+739C>T (n.1159+739C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19766742del | CA2655306525 | TBX1 | c.1390del (p.His464ThrfsTer5) c.1009+740del (n.1009+740del) c.1363del (p.His455ThrfsTer5) c.1513del (p.His505ThrfsTer5) c.718del (p.His240ThrfsTer5) c.1159+740del (n.1159+740del) | gnomAD v4 |
| 22 | g.19766742C>A | CA410685271 | TBX1 | c.1390C>A (p.His464Asn) c.1009+740C>A (n.1009+740C>A) c.1363C>A (p.His455Asn) c.1513C>A (p.His505Asn) c.718C>A (p.His240Asn) c.1159+740C>A (n.1159+740C>A) | gnomAD v4 |
| 22 | g.19766742C>G | CA410685272 | TBX1 | c.1390C>G (p.His464Asp) c.1009+740C>G (n.1009+740C>G) c.1363C>G (p.His455Asp) c.1513C>G (p.His505Asp) c.718C>G (p.His240Asp) c.1159+740C>G (n.1159+740C>G) |