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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.2417396G>A | CA9732116 | TGM6 | c.1501G>A (p.Val501Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.2417396G>C | CA408015241 | TGM6 | c.1501G>C (p.Val501Leu) | |
| 20 | g.2417396G= | CA2346098419 | TGM6 | c.1501G= (p.Val501=) | |
| 20 | g.2417396G>T | CA408015242 | TGM6 | c.1501G>T (p.Val501Leu) | |
| 20 | g.2417397T>A | CA408015243 | TGM6 | c.1502T>A (p.Val501Glu) | |
| 20 | g.2417397T>C | CA408015244 | TGM6 | c.1502T>C (p.Val501Ala) | dbSNP |
| 20 | g.2417397T>G | CA408015245 | TGM6 | c.1502T>G (p.Val501Gly) | |
| 20 | g.2417397T= | CA2346098420 | TGM6 | c.1502T= (p.Val501=) | |
| 20 | g.2417398del | CA2651627898 | TGM6 | c.1503del (p.Leu502Ter) | gnomAD v4 |
| 20 | g.2417398G>A | CA509547604 | TGM6 | c.1503G>A (p.Val501=) | |
| 20 | g.2417398G>C | CA509547605 | TGM6 | c.1503G>C (p.Val501=) | |
| 20 | g.2417398G>T | CA509547606 | TGM6 | c.1503G>T (p.Val501=) | |
| 20 | g.2417399C>A | CA408015246 | TGM6 | c.1504C>A (p.Leu502Ile) | |
| 20 | g.2417399C= | CA2346098421 | TGM6 | c.1504C= (p.Leu502=) | |
| 20 | g.2417399C>G | CA408015247 | TGM6 | c.1504C>G (p.Leu502Val) | |
| 20 | g.2417399C>T | CA509547607 | TGM6 | c.1504C>T (p.Leu502=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.2417400T>A | CA408015249 | TGM6 | c.1505T>A (p.Leu502Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.2417400T>C | CA9732117 | TGM6 | c.1505T>C (p.Leu502Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417400T>G | CA408015248 | TGM6 | c.1505T>G (p.Leu502Arg) | |
| 20 | g.2417400T= | CA2346098422 | TGM6 | c.1505T= (p.Leu502=) | |
| 20 | g.2417401A>C | CA509547608 | TGM6 | c.1506A>C (p.Leu502=) | |
| 20 | g.2417401A>G | CA509547609 | TGM6 | c.1506A>G (p.Leu502=) | |
| 20 | g.2417401A>T | CA509547610 | TGM6 | c.1506A>T (p.Leu502=) | |
| 20 | g.2417402G>A | CA408015250 | TGM6 | c.1507G>A (p.Glu503Lys) | gnomAD v4 |
| 20 | g.2417402G>C | CA408015251 | TGM6 | c.1507G>C (p.Glu503Gln) | |
| 20 | g.2417402G>T | CA408015252 | TGM6 | c.1507G>T (p.Glu503Ter) | |
| 20 | g.2417403A= | CA2346098423 | TGM6 | c.1508A= (p.Glu503=) | |
| 20 | g.2417403A>C | CA9732118 | TGM6 | c.1508A>C (p.Glu503Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417403A>G | CA408015253 | TGM6 | c.1508A>G (p.Glu503Gly) | gnomAD v4 |
| 20 | g.2417403A>T | CA408015254 | TGM6 | c.1508A>T (p.Glu503Val) | |
| 20 | g.2417404G>A | CA509547611 | TGM6 | c.1509G>A (p.Glu503=) | |
| 20 | g.2417404G>C | CA408015255 | TGM6 | c.1509G>C (p.Glu503Asp) | |
| 20 | g.2417404G>T | CA408015256 | TGM6 | c.1509G>T (p.Glu503Asp) | |
| 20 | g.2417405C>A | CA408015257 | TGM6 | c.1510C>A (p.Pro504Thr) | |
| 20 | g.2417405C>G | CA408015258 | TGM6 | c.1510C>G (p.Pro504Ala) | |
| 20 | g.2417405C>T | CA408015259 | TGM6 | c.1510C>T (p.Pro504Ser) | gnomAD v4 COSMIC |
| 20 | g.2417406C>A | CA408015260 | TGM6 | c.1511C>A (p.Pro504His) | gnomAD v4 |
| 20 | g.2417406C= | CA2346098424 | TGM6 | c.1511C= (p.Pro504=) | |
| 20 | g.2417406C>G | CA9732119 | TGM6 | c.1511C>G (p.Pro504Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417406C>T | CA408015261 | TGM6 | c.1511C>T (p.Pro504Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417407T>A | CA509547612 | TGM6 | c.1512T>A (p.Pro504=) | |
| 20 | g.2417407T>C | CA509547613 | TGM6 | c.1512T>C (p.Pro504=) | |
| 20 | g.2417407T>G | CA509547614 | TGM6 | c.1512T>G (p.Pro504=) | |
| 20 | g.2417408C>A | CA408015263 | TGM6 | c.1513C>A (p.Pro505Thr) | |
| 20 | g.2417408C= | CA2346098425 | TGM6 | c.1513C= (p.Pro505=) | |
| 20 | g.2417408C>G | CA310850210 | TGM6 | c.1513C>G (p.Pro505Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417408C>T | CA408015262 | TGM6 | c.1513C>T (p.Pro505Ser) | |
| 20 | g.2417410del | CA2840519109 | TGM6 | c.1515del (p.Met506CysfsTer6) | |
| 20 | g.2417409C>A | CA408015264 | TGM6 | c.1514C>A (p.Pro505His) | |
| 20 | g.2417409C>G | CA408015265 | TGM6 | c.1514C>G (p.Pro505Arg) | |
| 20 | g.2417409C>T | CA408015266 | TGM6 | c.1514C>T (p.Pro505Leu) | |
| 20 | g.2417410C>A | CA9732120 | TGM6 | c.1515C>A (p.Pro505=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.2417410C= | CA2346098426 | TGM6 | c.1515C= (p.Pro505=) | |
| 20 | g.2417410C>G | CA509547617 | TGM6 | c.1515C>G (p.Pro505=) | |
| 20 | g.2417410C>T | CA509547618 | TGM6 | c.1515C>T (p.Pro505=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.2417411A>C | CA408015267 | TGM6 | c.1516A>C (p.Met506Leu) | |
| 20 | g.2417411A>G | CA408015268 | TGM6 | c.1516A>G (p.Met506Val) | gnomAD v4 |
| 20 | g.2417411A>T | CA408015269 | TGM6 | c.1516A>T (p.Met506Leu) | |
| 20 | g.2417412T>A | CA408015272 | TGM6 | c.1517T>A (p.Met506Lys) | |
| 20 | g.2417412T>C | CA408015270 | TGM6 | c.1517T>C (p.Met506Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417412T>G | CA408015271 | TGM6 | c.1517T>G (p.Met506Arg) | |
| 20 | g.2417412T= | CA2346098427 | TGM6 | c.1517T= (p.Met506=) | |
| 20 | g.2417413G>A | CA408015273 | TGM6 | c.1518G>A (p.Met506Ile) | |
| 20 | g.2417413G>C | CA408015274 | TGM6 | c.1518G>C (p.Met506Ile) | |
| 20 | g.2417413G>T | CA408015275 | TGM6 | c.1518G>T (p.Met506Ile) | |
| 20 | g.2417413dup | CA2840519110 | TGM6 | c.1518dup (p.Leu507AlafsTer?) | |
| 20 | g.2417414C>A | CA408015276 | TGM6 | c.1519C>A (p.Leu507Met) | |
| 20 | g.2417414C>G | CA408015277 | TGM6 | c.1519C>G (p.Leu507Val) | |
| 20 | g.2417414C>T | CA509547622 | TGM6 | c.1519C>T (p.Leu507=) | |
| 20 | g.2417418_2417435del | CA2651627907 | TGM6 | c.1523_1540del (p.Gly508_Leu513del) | gnomAD v4 |
| 20 | g.2417415T>A | CA408015278 | TGM6 | c.1520T>A (p.Leu507Gln) | |
| 20 | g.2417415T>C | CA408015280 | TGM6 | c.1520T>C (p.Leu507Pro) | |
| 20 | g.2417415T>G | CA408015279 | TGM6 | c.1520T>G (p.Leu507Arg) | |
| 20 | g.2417416G>A | CA509547624 | TGM6 | c.1521G>A (p.Leu507=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417416G>C | CA509547625 | TGM6 | c.1521G>C (p.Leu507=) | |
| 20 | g.2417416G= | CA2346098428 | TGM6 | c.1521G= (p.Leu507=) | |
| 20 | g.2417416G>T | CA509547626 | TGM6 | c.1521G>T (p.Leu507=) | gnomAD v4 |
| 20 | g.2417418del | CA2580618155 | TGM6 | c.1523del (p.Gly508AlafsTer4) | ClinVar |
| 20 | g.2417417G>A | CA408015281 | TGM6 | c.1522G>A (p.Gly508Ser) | gnomAD v4 |
| 20 | g.2417417G>C | CA408015282 | TGM6 | c.1522G>C (p.Gly508Arg) | |
| 20 | g.2417417G>T | CA408015283 | TGM6 | c.1522G>T (p.Gly508Cys) | |
| 20 | g.2417418G>A | CA9732121 | TGM6 | c.1523G>A (p.Gly508Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417418G>C | CA408015284 | TGM6 | c.1523G>C (p.Gly508Ala) | |
| 20 | g.2417418G= | CA2346098429 | TGM6 | c.1523G= (p.Gly508=) | |
| 20 | g.2417418G>T | CA9732122 | TGM6 | c.1523G>T (p.Gly508Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417419C>A | CA509547630 | TGM6 | c.1524C>A (p.Gly508=) | dbSNP |
| 20 | g.2417419C= | CA2346098430 | TGM6 | c.1524C= (p.Gly508=) | |
| 20 | g.2417419C>G | CA509547631 | TGM6 | c.1524C>G (p.Gly508=) | |
| 20 | g.2417419C>T | CA509547632 | TGM6 | c.1524C>T (p.Gly508=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417420C>A | CA408015285 | TGM6 | c.1525C>A (p.His509Asn) | |
| 20 | g.2417420C= | CA2346098431 | TGM6 | c.1525C= (p.His509=) | |
| 20 | g.2417420C>G | CA408015286 | TGM6 | c.1525C>G (p.His509Asp) | |
| 20 | g.2417420C>T | CA408015287 | TGM6 | c.1525C>T (p.His509Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.2417421A>C | CA408015288 | TGM6 | c.1526A>C (p.His509Pro) | |
| 20 | g.2417421A>G | CA408015289 | TGM6 | c.1526A>G (p.His509Arg) | |
| 20 | g.2417421A>T | CA408015290 | TGM6 | c.1526A>T (p.His509Leu) | |
| 20 | g.2417422C>A | CA408015291 | TGM6 | c.1527C>A (p.His509Gln) | gnomAD v4 |
| 20 | g.2417422C= | CA2346098432 | TGM6 | c.1527C= (p.His509=) | |
| 20 | g.2417422C>G | CA408015292 | TGM6 | c.1527C>G (p.His509Gln) | |
| 20 | g.2417422C>T | CA9732123 | TGM6 | c.1527C>T (p.His509=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417423G>A | CA408015293 | TGM6 | c.1528G>A (p.Asp510Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.2417423G>C | CA261277 | TGM6 | c.1528G>C (p.Asp510His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417423G= | CA2346098433 | TGM6 | c.1528G= (p.Asp510=) | |
| 20 | g.2417423G>T | CA408015294 | TGM6 | c.1528G>T (p.Asp510Tyr) | |
| 20 | g.2417424A>C | CA408015295 | TGM6 | c.1529A>C (p.Asp510Ala) | |
| 20 | g.2417424A>G | CA408015296 | TGM6 | c.1529A>G (p.Asp510Gly) | |
| 20 | g.2417424A>T | CA408015297 | TGM6 | c.1529A>T (p.Asp510Val) | |
| 20 | g.2417425C>A | CA408015298 | TGM6 | c.1530C>A (p.Asp510Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417425C= | CA2346098434 | TGM6 | c.1530C= (p.Asp510=) | |
| 20 | g.2417425C>G | CA408015299 | TGM6 | c.1530C>G (p.Asp510Glu) | |
| 20 | g.2417425C>T | CA509547640 | TGM6 | c.1530C>T (p.Asp510=) | |
| 20 | g.2417426C>A | CA408015300 | TGM6 | c.1531C>A (p.Leu511Met) | |
| 20 | g.2417426C>G | CA408015301 | TGM6 | c.1531C>G (p.Leu511Val) | gnomAD v4 |
| 20 | g.2417426C>T | CA509547644 | TGM6 | c.1531C>T (p.Leu511=) | |
| 20 | g.2417427T>A | CA408015302 | TGM6 | c.1532T>A (p.Leu511Gln) | |
| 20 | g.2417427T>C | CA408015303 | TGM6 | c.1532T>C (p.Leu511Pro) | |
| 20 | g.2417427T>G | CA408015304 | TGM6 | c.1532T>G (p.Leu511Arg) | |
| 20 | g.2417428G>A | CA509547645 | TGM6 | c.1533G>A (p.Leu511=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417428G>C | CA509547647 | TGM6 | c.1533G>C (p.Leu511=) | |
| 20 | g.2417428G= | CA2346098435 | TGM6 | c.1533G= (p.Leu511=) | |
| 20 | g.2417428G>T | CA509547646 | TGM6 | c.1533G>T (p.Leu511=) | gnomAD v4 |
| 20 | g.2417429A= | CA2346098436 | TGM6 | c.1534A= (p.Arg512=) | |
| 20 | g.2417429A>C | CA9732124 | TGM6 | c.1534A>C (p.Arg512=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417429A>G | CA408015305 | TGM6 | c.1534A>G (p.Arg512Gly) | |
| 20 | g.2417429A>T | CA408015306 | TGM6 | c.1534A>T (p.Arg512Ter) | |
| 20 | g.2417430G>A | CA408015307 | TGM6 | c.1535G>A (p.Arg512Lys) | |
| 20 | g.2417430G>C | CA408015309 | TGM6 | c.1535G>C (p.Arg512Thr) | |
| 20 | g.2417430G>T | CA408015308 | TGM6 | c.1535G>T (p.Arg512Ile) | |
| 20 | g.2417431A= | CA2346098437 | TGM6 | c.1536A= (p.Arg512=) | |
| 20 | g.2417431A>C | CA408015310 | TGM6 | c.1536A>C (p.Arg512Ser) | |
| 20 | g.2417431A>G | CA509547651 | TGM6 | c.1536A>G (p.Arg512=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417431A>T | CA408015311 | TGM6 | c.1536A>T (p.Arg512Ser) | |
| 20 | g.2417432C>A | CA408015312 | TGM6 | c.1537C>A (p.Leu513Met) | |
| 20 | g.2417432C>G | CA408015313 | TGM6 | c.1537C>G (p.Leu513Val) | gnomAD v4 |
| 20 | g.2417432C>T | CA509547654 | TGM6 | c.1537C>T (p.Leu513=) | |
| 20 | g.2417433T>A | CA408015314 | TGM6 | c.1538T>A (p.Leu513Gln) | |
| 20 | g.2417433T>C | CA408015315 | TGM6 | c.1538T>C (p.Leu513Pro) | |
| 20 | g.2417433T>G | CA408015316 | TGM6 | c.1538T>G (p.Leu513Arg) | |
| 20 | g.2417434G>A | CA509547655 | TGM6 | c.1539G>A (p.Leu513=) | COSMIC |
| 20 | g.2417434G>C | CA509547656 | TGM6 | c.1539G>C (p.Leu513=) | |
| 20 | g.2417434G>T | CA509547659 | TGM6 | c.1539G>T (p.Leu513=) | |
| 20 | g.2417435G>A | CA408015317 | TGM6 | c.1540G>A (p.Ala514Thr) | gnomAD v4 |
| 20 | g.2417435G>C | CA408015318 | TGM6 | c.1540G>C (p.Ala514Pro) | |
| 20 | g.2417435G>T | CA408015319 | TGM6 | c.1540G>T (p.Ala514Ser) | |
| 20 | g.2417435_2417436delinsGC | CA2346098438 | TGM6 | c.1540_1541delinsGC (p.Ala514=) | |
| 20 | g.2417436C>A | CA408015322 | TGM6 | c.1541C>A (p.Ala514Asp) | |
| 20 | g.2417436C>G | CA408015321 | TGM6 | c.1541C>G (p.Ala514Gly) | |
| 20 | g.2417436C>T | CA408015320 | TGM6 | c.1541C>T (p.Ala514Val) | gnomAD v4 |
| 20 | g.2417438del | CA634327324 | TGM6 | c.1543del (p.Leu515CysfsTer13) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417437C>A | CA509547661 | TGM6 | c.1542C>A (p.Ala514=) | |
| 20 | g.2417437C= | CA2346098439 | TGM6 | c.1542C= (p.Ala514=) | |
| 20 | g.2417437C>G | CA509547663 | TGM6 | c.1542C>G (p.Ala514=) | |
| 20 | g.2417437C>T | CA310850250 | TGM6 | c.1542C>T (p.Ala514=) | dbSNP gnomAD v4 |
| 20 | g.2417438C>A | CA408015323 | TGM6 | c.1543C>A (p.Leu515Met) | |
| 20 | g.2417438C= | CA2346098440 | TGM6 | c.1543C= (p.Leu515=) | |
| 20 | g.2417438C>G | CA310850261 | TGM6 | c.1543C>G (p.Leu515Val) | dbSNP gnomAD v4 |
| 20 | g.2417438C>T | CA509547667 | TGM6 | c.1543C>T (p.Leu515=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.2417439T>A | CA408015324 | TGM6 | c.1544T>A (p.Leu515Gln) | COSMIC |
| 20 | g.2417439T>C | CA408015325 | TGM6 | c.1544T>C (p.Leu515Pro) | |
| 20 | g.2417439T>G | CA408015326 | TGM6 | c.1544T>G (p.Leu515Arg) | |
| 20 | g.2417440G>A | CA509547669 | TGM6 | c.1545G>A (p.Leu515=) | |
| 20 | g.2417440G>C | CA509547670 | TGM6 | c.1545G>C (p.Leu515=) | |
| 20 | g.2417440G>T | CA509547671 | TGM6 | c.1545G>T (p.Leu515=) | |
| 20 | g.2417441T>A | CA408015327 | TGM6 | c.1546T>A (p.Cys516Ser) | |
| 20 | g.2417441T>C | CA408015328 | TGM6 | c.1546T>C (p.Cys516Arg) | |
| 20 | g.2417441T>G | CA408015329 | TGM6 | c.1546T>G (p.Cys516Gly) | |
| 20 | g.2417442G>A | CA408015330 | TGM6 | c.1547G>A (p.Cys516Tyr) | gnomAD v4 |
| 20 | g.2417442G>C | CA408015331 | TGM6 | c.1547G>C (p.Cys516Ser) | |
| 20 | g.2417442G>T | CA408015332 | TGM6 | c.1547G>T (p.Cys516Phe) | |
| 20 | g.2417443C>A | CA408015333 | TGM6 | c.1548C>A (p.Cys516Ter) | |
| 20 | g.2417443C= | CA2346098441 | TGM6 | c.1548C= (p.Cys516=) | |
| 20 | g.2417443C>G | CA408015334 | TGM6 | c.1548C>G (p.Cys516Trp) | |
| 20 | g.2417443C>T | CA9732125 | TGM6 | c.1548C>T (p.Cys516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417444T>A | CA408015335 | TGM6 | c.1549T>A (p.Leu517Met) | |
| 20 | g.2417444T>C | CA509547615 | TGM6 | c.1549T>C (p.Leu517=) | |
| 20 | g.2417444T>G | CA408015336 | TGM6 | c.1549T>G (p.Leu517Val) | |
| 20 | g.2417445T>A | CA408015337 | TGM6 | c.1550T>A (p.Leu517Ter) | |
| 20 | g.2417445T>C | CA408015338 | TGM6 | c.1550T>C (p.Leu517Ser) | |
| 20 | g.2417445T>G | CA259991 | TGM6 | c.1550T>G (p.Leu517Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417445T= | CA2346098442 | TGM6 | c.1550T= (p.Leu517=) | |
| 20 | g.2417445_2417446delinsTG | CA2346098443 | TGM6 | c.1550_1551delinsTG (p.Leu517=) | |
| 20 | g.2417446G>A | CA509547616 | TGM6 | c.1551G>A (p.Leu517=) | |
| 20 | g.2417446G>C | CA9732126 | TGM6 | c.1551G>C (p.Leu517Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417446G= | CA2346098444 | TGM6 | c.1551G= (p.Leu517=) | |
| 20 | g.2417446G>T | CA408015339 | TGM6 | c.1551G>T (p.Leu517Phe) | |
| 20 | g.2417447del | CA742324601 | TGM6 | c.1552del (p.Ala518ProfsTer10) | dbSNP |
| 20 | g.2417447G>A | CA408015340 | TGM6 | c.1552G>A (p.Ala518Thr) | |
| 20 | g.2417447G>C | CA408015341 | TGM6 | c.1552G>C (p.Ala518Pro) | |
| 20 | g.2417447G= | CA2346098445 | TGM6 | c.1552G= (p.Ala518=) | |
| 20 | g.2417447G>T | CA408015342 | TGM6 | c.1552G>T (p.Ala518Ser) | dbSNP gnomAD v4 |
| 20 | g.2417448C>A | CA408015343 | TGM6 | c.1553C>A (p.Ala518Asp) | COSMIC |
| 20 | g.2417448C>G | CA408015344 | TGM6 | c.1553C>G (p.Ala518Gly) | |
| 20 | g.2417448C>T | CA408015345 | TGM6 | c.1553C>T (p.Ala518Val) | COSMIC |
| 20 | g.2417449C>A | CA509547621 | TGM6 | c.1554C>A (p.Ala518=) | |
| 20 | g.2417449C>G | CA509547619 | TGM6 | c.1554C>G (p.Ala518=) | |
| 20 | g.2417449C>T | CA509547620 | TGM6 | c.1554C>T (p.Ala518=) | gnomAD v4 |
| 20 | g.2417450A>C | CA408015346 | TGM6 | c.1555A>C (p.Asn519His) | |
| 20 | g.2417450A>G | CA408015348 | TGM6 | c.1555A>G (p.Asn519Asp) | |
| 20 | g.2417450A>T | CA408015347 | TGM6 | c.1555A>T (p.Asn519Tyr) | |
| 20 | g.2417451A= | CA2346098446 | TGM6 | c.1556A= (p.Asn519=) | |
| 20 | g.2417451A>C | CA9732127 | TGM6 | c.1556A>C (p.Asn519Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417451A>G | CA9732128 | TGM6 | c.1556A>G (p.Asn519Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417451A>T | CA9732129 | TGM6 | c.1556A>T (p.Asn519Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417452C>A | CA408015349 | TGM6 | c.1557C>A (p.Asn519Lys) | |
| 20 | g.2417452C= | CA2346098447 | TGM6 | c.1557C= (p.Asn519=) | |
| 20 | g.2417452C>G | CA408015350 | TGM6 | c.1557C>G (p.Asn519Lys) | |
| 20 | g.2417452C>T | CA509547623 | TGM6 | c.1557C>T (p.Asn519=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417453C>A | CA408015351 | TGM6 | c.1558C>A (p.Leu520Ile) | |
| 20 | g.2417453C= | CA2346098448 | TGM6 | c.1558C= (p.Leu520=) | |
| 20 | g.2417453C>G | CA408015352 | TGM6 | c.1558C>G (p.Leu520Val) | dbSNP gnomAD v4 |
| 20 | g.2417453C>T | CA408015353 | TGM6 | c.1558C>T (p.Leu520Phe) | dbSNP |
| 20 | g.2417454T>A | CA408015356 | TGM6 | c.1559T>A (p.Leu520His) | |
| 20 | g.2417454T>C | CA408015355 | TGM6 | c.1559T>C (p.Leu520Pro) | |
| 20 | g.2417454T>G | CA408015354 | TGM6 | c.1559T>G (p.Leu520Arg) | |
| 20 | g.2417455C>A | CA509547629 | TGM6 | c.1560C>A (p.Leu520=) | |
| 20 | g.2417455C>G | CA509547627 | TGM6 | c.1560C>G (p.Leu520=) | |
| 20 | g.2417455C>T | CA509547628 | TGM6 | c.1560C>T (p.Leu520=) | |
| 20 | g.2417456A= | CA2346098449 | TGM6 | c.1561A= (p.Thr521=) | |
| 20 | g.2417456A>C | CA408015357 | TGM6 | c.1561A>C (p.Thr521Pro) | dbSNP |
| 20 | g.2417456A>G | CA408015358 | TGM6 | c.1561A>G (p.Thr521Ala) | |
| 20 | g.2417456A>T | CA408015359 | TGM6 | c.1561A>T (p.Thr521Ser) | |
| 20 | g.2417457C>A | CA408015360 | TGM6 | c.1562C>A (p.Thr521Asn) | |
| 20 | g.2417457C>G | CA408015361 | TGM6 | c.1562C>G (p.Thr521Ser) | |
| 20 | g.2417457C>T | CA408015362 | TGM6 | c.1562C>T (p.Thr521Ile) | gnomAD v4 |
| 20 | g.2417458C>A | CA509547633 | TGM6 | c.1563C>A (p.Thr521=) | |
| 20 | g.2417458C>G | CA509547634 | TGM6 | c.1563C>G (p.Thr521=) | |
| 20 | g.2417458C>T | CA509547635 | TGM6 | c.1563C>T (p.Thr521=) | |
| 20 | g.2417459T>A | CA408015363 | TGM6 | c.1564T>A (p.Ser522Thr) | |
| 20 | g.2417459T>C | CA408015365 | TGM6 | c.1564T>C (p.Ser522Pro) | |
| 20 | g.2417459T>G | CA408015364 | TGM6 | c.1564T>G (p.Ser522Ala) | |
| 20 | g.2417460C>A | CA408015366 | TGM6 | c.1565C>A (p.Ser522Tyr) | gnomAD v4 |
| 20 | g.2417460C= | CA2346098450 | TGM6 | c.1565C= (p.Ser522=) | |
| 20 | g.2417460C>G | CA408015367 | TGM6 | c.1565C>G (p.Ser522Cys) | |
| 20 | g.2417460C>T | CA9732130 | TGM6 | c.1565C>T (p.Ser522Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.2417462dup | CA2840519111 | TGM6 | c.1567dup (p.Arg523ProfsTer27) | |
| 20 | g.2417461C>A | CA509547636 | TGM6 | c.1566C>A (p.Ser522=) | gnomAD v4 |
| 20 | g.2417461C= | CA2346098451 | TGM6 | c.1566C= (p.Ser522=) | |
| 20 | g.2417461C>G | CA509547637 | TGM6 | c.1566C>G (p.Ser522=) | |
| 20 | g.2417461C>T | CA509547638 | TGM6 | c.1566C>T (p.Ser522=) | dbSNP gnomAD v2 |
| 20 | g.2417462C>A | CA509547639 | TGM6 | c.1567C>A (p.Arg523=) | |
| 20 | g.2417462C= | CA2346098452 | TGM6 | c.1567C= (p.Arg523=) | |
| 20 | g.2417462C>G | CA408015368 | TGM6 | c.1567C>G (p.Arg523Gly) | |
| 20 | g.2417462C>T | CA408015369 | TGM6 | c.1567C>T (p.Arg523Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.2417463G>A | CA9732131 | TGM6 | c.1568G>A (p.Arg523Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.2417463G>C | CA9732132 | TGM6 | c.1568G>C (p.Arg523Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417463G= | CA2346098453 | TGM6 | c.1568G= (p.Arg523=) | |
| 20 | g.2417463G>T | CA408015370 | TGM6 | c.1568G>T (p.Arg523Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417463_2417464insAA | CA2514180646 | TGM6 | c.1568_1569insAA (p.Ala524ArgfsTer5) | |
| 20 | g.2417464G>A | CA509547641 | TGM6 | c.1569G>A (p.Arg523=) | |
| 20 | g.2417464G>C | CA509547642 | TGM6 | c.1569G>C (p.Arg523=) | |
| 20 | g.2417464G>T | CA509547643 | TGM6 | c.1569G>T (p.Arg523=) | gnomAD v4 |
| 20 | g.2417465G>A | CA9732133 | TGM6 | c.1570G>A (p.Ala524Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.2417465G>C | CA408015371 | TGM6 | c.1570G>C (p.Ala524Pro) | |
| 20 | g.2417465G= | CA2346098455 | TGM6 | c.1570G= (p.Ala524=) | |
| 20 | g.2417465G>T | CA408015372 | TGM6 | c.1570G>T (p.Ala524Ser) | gnomAD v4 |
| 20 | g.2417465_2417466del | CA2539243394 | TGM6 | c.1570_1571del (p.Ala524ProfsTer25) | |
| 20 | g.2417465_2417466delinsGC | CA2346098454 | TGM6 | c.1570_1571delinsGC (p.Ala524=) | |
| 20 | g.2417466C>A | CA408015373 | TGM6 | c.1571C>A (p.Ala524Asp) | |
| 20 | g.2417466C= | CA2346098456 | TGM6 | c.1571C= (p.Ala524=) | |
| 20 | g.2417466C>G | CA408015374 | TGM6 | c.1571C>G (p.Ala524Gly) | |
| 20 | g.2417466C>T | CA9732134 | TGM6 | c.1571C>T (p.Ala524Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417468del | CA634327255 | TGM6 | c.1573del (p.Gln525SerfsTer3) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.2417467C>A | CA509547648 | TGM6 | c.1572C>A (p.Ala524=) | |
| 20 | g.2417467C>G | CA509547649 | TGM6 | c.1572C>G (p.Ala524=) | |
| 20 | g.2417467C>T | CA509547650 | TGM6 | c.1572C>T (p.Ala524=) | |
| 20 | g.2417468C>A | CA408015375 | TGM6 | c.1573C>A (p.Gln525Lys) | gnomAD v4 |
| 20 | g.2417468C>G | CA408015376 | TGM6 | c.1573C>G (p.Gln525Glu) | |
| 20 | g.2417468C>T | CA408015377 | TGM6 | c.1573C>T (p.Gln525Ter) | |
| 20 | g.2417469A>C | CA408015378 | TGM6 | c.1574A>C (p.Gln525Pro) | |
| 20 | g.2417469A>G | CA408015379 | TGM6 | c.1574A>G (p.Gln525Arg) | |
| 20 | g.2417469A>T | CA408015380 | TGM6 | c.1574A>T (p.Gln525Leu) | gnomAD v4 |
| 20 | g.2417470G>A | CA509547652 | TGM6 | c.1575G>A (p.Gln525=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.2417470G>C | CA408015381 | TGM6 | c.1575G>C (p.Gln525His) | |
| 20 | g.2417470G= | CA2346098457 | TGM6 | c.1575G= (p.Gln525=) | |
| 20 | g.2417470G>T | CA408015382 | TGM6 | c.1575G>T (p.Gln525His) | gnomAD v4 |
| 20 | g.2417471C>A | CA509547653 | TGM6 | c.1576C>A (p.Arg526=) | gnomAD v4 |
| 20 | g.2417471C= | CA2346098458 | TGM6 | c.1576C= (p.Arg526=) | |
| 20 | g.2417471C>G | CA408015383 | TGM6 | c.1576C>G (p.Arg526Gly) | ClinVar gnomAD v4 |
| 20 | g.2417471C>T | CA408015384 | TGM6 | c.1576C>T (p.Arg526Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.2417472G>A | CA9732135 | TGM6 | c.1577G>A (p.Arg526Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.2417472G>C | CA408015385 | TGM6 | c.1577G>C (p.Arg526Pro) | dbSNP |
| 20 | g.2417472G= | CA2346098459 | TGM6 | c.1577G= (p.Arg526=) | |
| 20 | g.2417472G>T | CA408015386 | TGM6 | c.1577G>T (p.Arg526Leu) | gnomAD v4 |
| 20 | g.2417473_2417476del | CA2506432766 | TGM6 | c.1578_1581del (p.Val527GlyfsTer4) | |
| 20 | g.2417473G>A | CA509547657 | TGM6 | c.1578G>A (p.Arg526=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.2417473G>C | CA509547658 | TGM6 | c.1578G>C (p.Arg526=) | |
| 20 | g.2417473G= | CA2346098460 | TGM6 | c.1578G= (p.Arg526=) | |
| 20 | g.2417473G>T | CA509547660 | TGM6 | c.1578G>T (p.Arg526=) | dbSNP |
| 20 | g.2417474G>A | CA408015387 | TGM6 | c.1579G>A (p.Val527Met) | dbSNP gnomAD v4 |
| 20 | g.2417474G>C | CA9732136 | TGM6 | c.1579G>C (p.Val527Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.2417474G= | CA2346098461 | TGM6 | c.1579G= (p.Val527=) | |
| 20 | g.2417474G>T | CA408015388 | TGM6 | c.1579G>T (p.Val527Leu) | gnomAD v4 |
| 20 | g.2417475T>A | CA9732137 | TGM6 | c.1580T>A (p.Val527Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417475T>C | CA408015389 | TGM6 | c.1580T>C (p.Val527Ala) | |
| 20 | g.2417475T>G | CA408015390 | TGM6 | c.1580T>G (p.Val527Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417475T= | CA2346098462 | TGM6 | c.1580T= (p.Val527=) | |
| 20 | g.2417476G>A | CA509547662 | TGM6 | c.1581G>A (p.Val527=) | |
| 20 | g.2417476G>C | CA509547665 | TGM6 | c.1581G>C (p.Val527=) | |
| 20 | g.2417476G>T | CA509547664 | TGM6 | c.1581G>T (p.Val527=) | gnomAD v4 |
| 20 | g.2417477A>C | CA509547666 | TGM6 | c.1582A>C (p.Arg528=) | |
| 20 | g.2417477A>G | CA408015391 | TGM6 | c.1582A>G (p.Arg528Gly) | |
| 20 | g.2417477A>T | CA408015392 | TGM6 | c.1582A>T (p.Arg528Trp) | |
| 20 | g.2417478G>A | CA9732138 | TGM6 | c.1583G>A (p.Arg528Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.2417478G>C | CA408015393 | TGM6 | c.1583G>C (p.Arg528Thr) | |
| 20 | g.2417478G= | CA2346098463 | TGM6 | c.1583G= (p.Arg528=) | |
| 20 | g.2417478G>T | CA408015394 | TGM6 | c.1583G>T (p.Arg528Met) | gnomAD v4 |
| 20 | g.2417478_2417479insTCCA | CA2542026913 | TGM6 | c.1583_1584insTCCA (p.Arg528SerfsTer23) | |
| 20 | g.2417479G>A | CA509547668 | TGM6 | c.1584G>A (p.Arg528=) | gnomAD v4 |
| 20 | g.2417479G>C | CA408015395 | TGM6 | c.1584G>C (p.Arg528Ser) | |
| 20 | g.2417479G>T | CA408015396 | TGM6 | c.1584G>T (p.Arg528Ser) | gnomAD v4 COSMIC |
| 20 | g.2417480G>A | CA408015398 | TGM6 | c.1585G>A (p.Val529Ile) | |
| 20 | g.2417480G>C | CA408015399 | TGM6 | c.1585G>C (p.Val529Leu) | |
| 20 | g.2417480G= | CA2346098464 | TGM6 | c.1585G= (p.Val529=) | |
| 20 | g.2417480G>T | CA408015397 | TGM6 | c.1585G>T (p.Val529Phe) | dbSNP gnomAD v4 |
| 20 | g.2417481T>A | CA408015402 | TGM6 | c.1586T>A (p.Val529Asp) | dbSNP |
| 20 | g.2417481T>C | CA408015400 | TGM6 | c.1586T>C (p.Val529Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417481T>G | CA408015401 | TGM6 | c.1586T>G (p.Val529Gly) | |
| 20 | g.2417481T= | CA2346098465 | TGM6 | c.1586T= (p.Val529=) | |
| 20 | g.2417482C>A | CA509547672 | TGM6 | c.1587C>A (p.Val529=) | |
| 20 | g.2417482C>G | CA509547673 | TGM6 | c.1587C>G (p.Val529=) | COSMIC |
| 20 | g.2417482C>T | CA509547674 | TGM6 | c.1587C>T (p.Val529=) | |
| 20 | g.2417483A>C | CA408015403 | TGM6 | c.1588A>C (p.Asn530His) | |
| 20 | g.2417483A>G | CA408015404 | TGM6 | c.1588A>G (p.Asn530Asp) | |
| 20 | g.2417483A>T | CA408015405 | TGM6 | c.1588A>T (p.Asn530Tyr) | |
| 20 | g.2417483_2417487del | CA2651627915 | TGM6 | c.1588_1592del (p.Asn530GlufsTer18) | gnomAD v4 |
| 20 | g.2417484A= | CA2346098466 | TGM6 | c.1589A= (p.Asn530=) | |
| 20 | g.2417484A>C | CA408015406 | TGM6 | c.1589A>C (p.Asn530Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.2417484A>G | CA408015407 | TGM6 | c.1589A>G (p.Asn530Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417484A>T | CA408015408 | TGM6 | c.1589A>T (p.Asn530Ile) | |
| 20 | g.2417485C>A | CA408015409 | TGM6 | c.1590C>A (p.Asn530Lys) | |
| 20 | g.2417485C= | CA2346098467 | TGM6 | c.1590C= (p.Asn530=) | |
| 20 | g.2417485C>G | CA408015410 | TGM6 | c.1590C>G (p.Asn530Lys) | |
| 20 | g.2417485C>T | CA9732139 | TGM6 | c.1590C>T (p.Asn530=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.2417486C>A | CA408015411 | TGM6 | c.1591C>A (p.Leu531Met) | |
| 20 | g.2417486C= | CA2346098468 | TGM6 | c.1591C= (p.Leu531=) | |
| 20 | g.2417486C>G | CA408015412 | TGM6 | c.1591C>G (p.Leu531Val) | |
| 20 | g.2417486C>T | CA509547675 | TGM6 | c.1591C>T (p.Leu531=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417487T>A | CA408015415 | TGM6 | c.1592T>A (p.Leu531Gln) | ClinVar |
| 20 | g.2417487T>C | CA408015413 | TGM6 | c.1592T>C (p.Leu531Pro) | |
| 20 | g.2417487T>G | CA408015414 | TGM6 | c.1592T>G (p.Leu531Arg) | |
| 20 | g.2417488G>A | CA509547676 | TGM6 | c.1593G>A (p.Leu531=) | gnomAD v4 |
| 20 | g.2417488G>C | CA509547677 | TGM6 | c.1593G>C (p.Leu531=) | |
| 20 | g.2417488G= | CA2346098469 | TGM6 | c.1593G= (p.Leu531=) | |
| 20 | g.2417488G>T | CA509547678 | TGM6 | c.1593G>T (p.Leu531=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.2417489A>C | CA408015416 | TGM6 | c.1594A>C (p.Ser532Arg) | COSMIC |
| 20 | g.2417489A>G | CA408015417 | TGM6 | c.1594A>G (p.Ser532Gly) | |
| 20 | g.2417489A>T | CA408015418 | TGM6 | c.1594A>T (p.Ser532Cys) | |
| 20 | g.2417490G>A | CA9732140 | TGM6 | c.1595G>A (p.Ser532Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.2417490G>C | CA408015419 | TGM6 | c.1595G>C (p.Ser532Thr) | |
| 20 | g.2417490G= | CA2346098470 | TGM6 | c.1595G= (p.Ser532=) | |
| 20 | g.2417490G>T | CA408015420 | TGM6 | c.1595G>T (p.Ser532Ile) | gnomAD v4 |
| 20 | g.2417491C>A | CA408015421 | TGM6 | c.1596C>A (p.Ser532Arg) | gnomAD v4 |
| 20 | g.2417491C= | CA2346098471 | TGM6 | c.1596C= (p.Ser532=) | |
| 20 | g.2417491C>G | CA408015422 | TGM6 | c.1596C>G (p.Ser532Arg) | |
| 20 | g.2417491C>T | CA9732141 | TGM6 | c.1596C>T (p.Ser532=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.2417492G>A | CA9732142 | TGM6 | c.1597G>A (p.Gly533Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417492G>C | CA408015423 | TGM6 | c.1597G>C (p.Gly533Arg) | |
| 20 | g.2417492G= | CA2346098472 | TGM6 | c.1597G= (p.Gly533=) | |
| 20 | g.2417492G>T | CA408015424 | TGM6 | c.1597G>T (p.Gly533Cys) | gnomAD v4 COSMIC |
| 20 | g.2417493G>A | CA310850380 | TGM6 | c.1598G>A (p.Gly533Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417493G>C | CA408015426 | TGM6 | c.1598G>C (p.Gly533Ala) | |
| 20 | g.2417493G= | CA2346098473 | TGM6 | c.1598G= (p.Gly533=) | |
| 20 | g.2417493G>T | CA408015425 | TGM6 | c.1598G>T (p.Gly533Val) | gnomAD v4 |
| 20 | g.2417494T>A | CA509547679 | TGM6 | c.1599T>A (p.Gly533=) | |
| 20 | g.2417494T>C | CA509547680 | TGM6 | c.1599T>C (p.Gly533=) | |
| 20 | g.2417494T>G | CA509547681 | TGM6 | c.1599T>G (p.Gly533=) | |
| 20 | g.2417495G>A | CA9732143 | TGM6 | c.1600G>A (p.Ala534Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.2417495G>C | CA408015427 | TGM6 | c.1600G>C (p.Ala534Pro) | |
| 20 | g.2417495G= | CA2346098474 | TGM6 | c.1600G= (p.Ala534=) | |
| 20 | g.2417495G>T | CA408015428 | TGM6 | c.1600G>T (p.Ala534Ser) | gnomAD v4 |
| 20 | g.2417496C>A | CA408015429 | TGM6 | c.1601C>A (p.Ala534Asp) | |
| 20 | g.2417496C>G | CA408015430 | TGM6 | c.1601C>G (p.Ala534Gly) | |
| 20 | g.2417496C>T | CA408015431 | TGM6 | c.1601C>T (p.Ala534Val) | gnomAD v4 |