20 | g.2417328_2417359dup | CA915953073 | TGM6 | c.1433_1464dup (p.Pro489ValfsTer25)
| ClinVar dbSNP |
20 | g.2417356G>A | CA310850172 | TGM6 | c.1461G>A (p.Leu487=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.2417356G>C | CA509547578 | TGM6 | c.1461G>C (p.Leu487=)
| |
20 | g.2417356G= | CA2346098406 | TGM6 | c.1461G= (p.Leu487=)
| |
20 | g.2417356G>T | CA509547579 | TGM6 | c.1461G>T (p.Leu487=)
| |
20 | g.2417357G>A | CA408015146 | TGM6 | c.1462G>A (p.Glu488Lys)
| |
20 | g.2417357G>C | CA408015147 | TGM6 | c.1462G>C (p.Glu488Gln)
| |
20 | g.2417357G= | CA2346098407 | TGM6 | c.1462G= (p.Glu488=)
| |
20 | g.2417357G>T | CA310850173 | TGM6 | c.1462G>T (p.Glu488Ter)
| dbSNP gnomAD v4 |
20 | g.2417358A>C | CA408015149 | TGM6 | c.1463A>C (p.Glu488Ala)
| |
20 | g.2417358A>G | CA408015151 | TGM6 | c.1463A>G (p.Glu488Gly)
| |
20 | g.2417358A>T | CA408015153 | TGM6 | c.1463A>T (p.Glu488Val)
| |
20 | g.2417359G>A | CA509547580 | TGM6 | c.1464G>A (p.Glu488=)
| |
20 | g.2417359G>C | CA9732110 | TGM6 | c.1464G>C (p.Glu488Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417359G= | CA2346098408 | TGM6 | c.1464G= (p.Glu488=)
| |
20 | g.2417359G>T | CA408015155 | TGM6 | c.1464G>T (p.Glu488Asp)
| |
20 | g.2417359_2417360delinsGC | CA2346098409 | TGM6 | c.1464_1465delinsGC (p.Glu488=)
| |
20 | g.2417360C>A | CA408015158 | TGM6 | c.1465C>A (p.Pro489Thr)
| |
20 | g.2417360C>G | CA408015157 | TGM6 | c.1465C>G (p.Pro489Ala)
| |
20 | g.2417360C>T | CA408015156 | TGM6 | c.1465C>T (p.Pro489Ser)
| |
20 | g.2417361del | CA634327323 | TGM6 | c.1466del (p.Pro489LeufsTer14)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417361C>A | CA408015159 | TGM6 | c.1466C>A (p.Pro489His)
| |
20 | g.2417361C>G | CA408015160 | TGM6 | c.1466C>G (p.Pro489Arg)
| |
20 | g.2417361C>T | CA408015162 | TGM6 | c.1466C>T (p.Pro489Leu)
| |
20 | g.2417362T>A | CA509547581 | TGM6 | c.1467T>A (p.Pro489=)
| |
20 | g.2417362T>C | CA509547582 | TGM6 | c.1467T>C (p.Pro489=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417362T>G | CA509547583 | TGM6 | c.1467T>G (p.Pro489=)
| |
20 | g.2417362T= | CA2346098410 | TGM6 | c.1467T= (p.Pro489=)
| |
20 | g.2417363G>A | CA408015163 | TGM6 | c.1468G>A (p.Ala490Thr)
| |
20 | g.2417363G>C | CA408015165 | TGM6 | c.1468G>C (p.Ala490Pro)
| |
20 | g.2417363G>T | CA408015167 | TGM6 | c.1468G>T (p.Ala490Ser)
| |
20 | g.2417364C>A | CA408015169 | TGM6 | c.1469C>A (p.Ala490Asp)
| gnomAD v4 |
20 | g.2417364C>G | CA408015170 | TGM6 | c.1469C>G (p.Ala490Gly)
| |
20 | g.2417364C>T | CA408015172 | TGM6 | c.1469C>T (p.Ala490Val)
| COSMIC |
20 | g.2417365C>A | CA509547584 | TGM6 | c.1470C>A (p.Ala490=)
| gnomAD v4 |
20 | g.2417365C>G | CA509547586 | TGM6 | c.1470C>G (p.Ala490=)
| |
20 | g.2417365C>T | CA509547585 | TGM6 | c.1470C>T (p.Ala490=)
| ClinVar gnomAD v4 |
20 | g.2417366A>C | CA408015174 | TGM6 | c.1471A>C (p.Thr491Pro)
| |
20 | g.2417366A>G | CA408015175 | TGM6 | c.1471A>G (p.Thr491Ala)
| |
20 | g.2417366A>T | CA408015177 | TGM6 | c.1471A>T (p.Thr491Ser)
| |
20 | g.2417367C>A | CA408015180 | TGM6 | c.1472C>A (p.Thr491Asn)
| |
20 | g.2417367C>G | CA408015179 | TGM6 | c.1472C>G (p.Thr491Ser)
| |
20 | g.2417367C>T | CA408015178 | TGM6 | c.1472C>T (p.Thr491Ile)
| |
20 | g.2417368C>A | CA509547587 | TGM6 | c.1473C>A (p.Thr491=)
| |
20 | g.2417368C>G | CA509547588 | TGM6 | c.1473C>G (p.Thr491=)
| |
20 | g.2417368C>T | CA509547589 | TGM6 | c.1473C>T (p.Thr491=)
| |
20 | g.2417369A>C | CA408015181 | TGM6 | c.1474A>C (p.Lys492Gln)
| |
20 | g.2417369A>G | CA408015183 | TGM6 | c.1474A>G (p.Lys492Glu)
| |
20 | g.2417369A>T | CA408015182 | TGM6 | c.1474A>T (p.Lys492Ter)
| |
20 | g.2417370A>C | CA408015184 | TGM6 | c.1475A>C (p.Lys492Thr)
| |
20 | g.2417370A>G | CA408015185 | TGM6 | c.1475A>G (p.Lys492Arg)
| |
20 | g.2417370A>T | CA408015186 | TGM6 | c.1475A>T (p.Lys492Met)
| |
20 | g.2417371G>A | CA155708 | TGM6 | c.1476G>A (p.Lys492=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417371G>C | CA408015187 | TGM6 | c.1476G>C (p.Lys492Asn)
| |
20 | g.2417371G= | CA2346098411 | TGM6 | c.1476G= (p.Lys492=)
| |
20 | g.2417371G>T | CA408015188 | TGM6 | c.1476G>T (p.Lys492Asn)
| |
20 | g.2417372C>A | CA408015189 | TGM6 | c.1477C>A (p.Pro493Thr)
| |
20 | g.2417372C>G | CA408015190 | TGM6 | c.1477C>G (p.Pro493Ala)
| |
20 | g.2417372C>T | CA408015191 | TGM6 | c.1477C>T (p.Pro493Ser)
| gnomAD v4 |
20 | g.2417373C>A | CA310850175 | TGM6 | c.1478C>A (p.Pro493His)
| dbSNP gnomAD v4 |
20 | g.2417373C= | CA2346098412 | TGM6 | c.1478C= (p.Pro493=)
| |
20 | g.2417373C>G | CA408015192 | TGM6 | c.1478C>G (p.Pro493Arg)
| |
20 | g.2417373C>T | CA9732111 | TGM6 | c.1478C>T (p.Pro493Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.2417374C>A | CA509547592 | TGM6 | c.1479C>A (p.Pro493=)
| |
20 | g.2417374C>G | CA509547590 | TGM6 | c.1479C>G (p.Pro493=)
| |
20 | g.2417374C>T | CA509547591 | TGM6 | c.1479C>T (p.Pro493=)
| gnomAD v4 |
20 | g.2417375A>C | CA408015193 | TGM6 | c.1480A>C (p.Ser494Arg)
| |
20 | g.2417375A>G | CA408015195 | TGM6 | c.1480A>G (p.Ser494Gly)
| |
20 | g.2417375A>T | CA408015194 | TGM6 | c.1480A>T (p.Ser494Cys)
| |
20 | g.2417376G>A | CA408015196 | TGM6 | c.1481G>A (p.Ser494Asn)
| |
20 | g.2417376G>C | CA408015197 | TGM6 | c.1481G>C (p.Ser494Thr)
| |
20 | g.2417376G>T | CA408015198 | TGM6 | c.1481G>T (p.Ser494Ile)
| |
20 | g.2417377C>A | CA408015199 | TGM6 | c.1482C>A (p.Ser494Arg)
| gnomAD v4 |
20 | g.2417377C= | CA2346098413 | TGM6 | c.1482C= (p.Ser494=)
| |
20 | g.2417377C>G | CA408015200 | TGM6 | c.1482C>G (p.Ser494Arg)
| |
20 | g.2417377C>T | CA9732112 | TGM6 | c.1482C>T (p.Ser494=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417378A= | CA2346098414 | TGM6 | c.1483A= (p.Ile495=)
| |
20 | g.2417378A>C | CA408015201 | TGM6 | c.1483A>C (p.Ile495Leu)
| |
20 | g.2417378A>G | CA9732113 | TGM6 | c.1483A>G (p.Ile495Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417378A>T | CA408015202 | TGM6 | c.1483A>T (p.Ile495Phe)
| |
20 | g.2417379T>A | CA408015204 | TGM6 | c.1484T>A (p.Ile495Asn)
| |
20 | g.2417379T>C | CA408015205 | TGM6 | c.1484T>C (p.Ile495Thr)
| |
20 | g.2417379T>G | CA408015203 | TGM6 | c.1484T>G (p.Ile495Ser)
| |
20 | g.2417380C>A | CA509547593 | TGM6 | c.1485C>A (p.Ile495=)
| |
20 | g.2417380C= | CA2346098415 | TGM6 | c.1485C= (p.Ile495=)
| |
20 | g.2417380C>G | CA408015206 | TGM6 | c.1485C>G (p.Ile495Met)
| gnomAD v4 |
20 | g.2417380C>T | CA509547594 | TGM6 | c.1485C>T (p.Ile495=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.2417381G>A | CA9732114 | TGM6 | c.1486G>A (p.Ala496Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.2417381G>C | CA408015207 | TGM6 | c.1486G>C (p.Ala496Pro)
| gnomAD v4 |
20 | g.2417381G= | CA2346098416 | TGM6 | c.1486G= (p.Ala496=)
| |
20 | g.2417381G>T | CA408015208 | TGM6 | c.1486G>T (p.Ala496Ser)
| gnomAD v4 |
20 | g.2417382C>A | CA408015209 | TGM6 | c.1487C>A (p.Ala496Asp)
| |
20 | g.2417382C>G | CA408015210 | TGM6 | c.1487C>G (p.Ala496Gly)
| |
20 | g.2417382C>T | CA408015211 | TGM6 | c.1487C>T (p.Ala496Val)
| |
20 | g.2417383T>A | CA509547595 | TGM6 | c.1488T>A (p.Ala496=)
| |
20 | g.2417383T>C | CA509547596 | TGM6 | c.1488T>C (p.Ala496=)
| |
20 | g.2417383T>G | CA509547597 | TGM6 | c.1488T>G (p.Ala496=)
| |
20 | g.2417384G>A | CA408015212 | TGM6 | c.1489G>A (p.Gly497Ser)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.2417384G>C | CA408015213 | TGM6 | c.1489G>C (p.Gly497Arg)
| |
20 | g.2417384G= | CA2346098417 | TGM6 | c.1489G= (p.Gly497=)
| |
20 | g.2417384G>T | CA408015214 | TGM6 | c.1489G>T (p.Gly497Cys)
| |
20 | g.2417385G>A | CA408015215 | TGM6 | c.1490G>A (p.Gly497Asp)
| |
20 | g.2417385G>C | CA408015216 | TGM6 | c.1490G>C (p.Gly497Ala)
| |
20 | g.2417385G>T | CA408015217 | TGM6 | c.1490G>T (p.Gly497Val)
| |
20 | g.2417386del | CA2577319327 | TGM6 | c.1491del (p.Lys498SerfsTer5)
| |
20 | g.2417386C>A | CA509547598 | TGM6 | c.1491C>A (p.Gly497=)
| |
20 | g.2417386C>G | CA509547599 | TGM6 | c.1491C>G (p.Gly497=)
| |
20 | g.2417386C>T | CA509547600 | TGM6 | c.1491C>T (p.Gly497=)
| |
20 | g.2417387A>C | CA408015220 | TGM6 | c.1492A>C (p.Lys498Gln)
| |
20 | g.2417387A>G | CA408015219 | TGM6 | c.1492A>G (p.Lys498Glu)
| |
20 | g.2417387A>T | CA408015218 | TGM6 | c.1492A>T (p.Lys498Ter)
| |
20 | g.2417388A>C | CA408015221 | TGM6 | c.1493A>C (p.Lys498Thr)
| |
20 | g.2417388A>G | CA408015222 | TGM6 | c.1493A>G (p.Lys498Arg)
| |
20 | g.2417388A>T | CA408015223 | TGM6 | c.1493A>T (p.Lys498Met)
| |
20 | g.2417389G>A | CA509547601 | TGM6 | c.1494G>A (p.Lys498=)
| |
20 | g.2417389G>C | CA408015224 | TGM6 | c.1494G>C (p.Lys498Asn)
| |
20 | g.2417389G>T | CA408015225 | TGM6 | c.1494G>T (p.Lys498Asn)
| |
20 | g.2417390T>A | CA408015226 | TGM6 | c.1495T>A (p.Phe499Ile)
| |
20 | g.2417390T>C | CA408015227 | TGM6 | c.1495T>C (p.Phe499Leu)
| gnomAD v4 |
20 | g.2417390T>G | CA408015228 | TGM6 | c.1495T>G (p.Phe499Val)
| gnomAD v4 |
20 | g.2417391T>A | CA408015229 | TGM6 | c.1496T>A (p.Phe499Tyr)
| |
20 | g.2417391T>C | CA408015230 | TGM6 | c.1496T>C (p.Phe499Ser)
| |
20 | g.2417391T>G | CA408015231 | TGM6 | c.1496T>G (p.Phe499Cys)
| |
20 | g.2417392C>A | CA408015232 | TGM6 | c.1497C>A (p.Phe499Leu)
| |
20 | g.2417392C= | CA2346098418 | TGM6 | c.1497C= (p.Phe499=)
| |
20 | g.2417392C>G | CA9732115 | TGM6 | c.1497C>G (p.Phe499Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.2417392C>T | CA509547602 | TGM6 | c.1497C>T (p.Phe499=)
| |
20 | g.2417393A>C | CA408015234 | TGM6 | c.1498A>C (p.Lys500Gln)
| |
20 | g.2417393A>G | CA408015235 | TGM6 | c.1498A>G (p.Lys500Glu)
| |
20 | g.2417393A>T | CA408015233 | TGM6 | c.1498A>T (p.Lys500Ter)
| |
20 | g.2417394A>C | CA408015236 | TGM6 | c.1499A>C (p.Lys500Thr)
| |
20 | g.2417394A>G | CA408015237 | TGM6 | c.1499A>G (p.Lys500Arg)
| |
20 | g.2417394A>T | CA408015238 | TGM6 | c.1499A>T (p.Lys500Met)
| |
20 | g.2417395G>A | CA509547603 | TGM6 | c.1500G>A (p.Lys500=)
| |
20 | g.2417395G>C | CA408015239 | TGM6 | c.1500G>C (p.Lys500Asn)
| |
20 | g.2417395G>T | CA408015240 | TGM6 | c.1500G>T (p.Lys500Asn)
| |
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.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.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)
| |