OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.2417328_2417359dup | CA915953073 | TGM6 | c.1433_1464dup (p.Pro489ValfsTer25) | ClinVar dbSNP |
| 20 | g.2417350C>A | CA408015125 | TGM6 | c.1455C>A (p.Asp485Glu) | |
| 20 | g.2417350C= | CA2346098404 | TGM6 | c.1455C= (p.Asp485=) | |
| 20 | g.2417350C>G | CA408015127 | TGM6 | c.1455C>G (p.Asp485Glu) | |
| 20 | g.2417350C>T | CA509547573 | TGM6 | c.1455C>T (p.Asp485=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.2417351C>A | CA408015129 | TGM6 | c.1456C>A (p.Leu486Ile) | dbSNP |
| 20 | g.2417351C= | CA2346098405 | TGM6 | c.1456C= (p.Leu486=) | |
| 20 | g.2417351C>G | CA408015130 | TGM6 | c.1456C>G (p.Leu486Val) | dbSNP |
| 20 | g.2417351C>T | CA408015132 | TGM6 | c.1456C>T (p.Leu486Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.2417352T>A | CA408015133 | TGM6 | c.1457T>A (p.Leu486His) | |
| 20 | g.2417352T>C | CA408015134 | TGM6 | c.1457T>C (p.Leu486Pro) | |
| 20 | g.2417352T>G | CA408015136 | TGM6 | c.1457T>G (p.Leu486Arg) | |
| 20 | g.2417353C>A | CA509547576 | TGM6 | c.1458C>A (p.Leu486=) | |
| 20 | g.2417353C>G | CA509547575 | TGM6 | c.1458C>G (p.Leu486=) | |
| 20 | g.2417353C>T | CA509547574 | TGM6 | c.1458C>T (p.Leu486=) | |
| 20 | g.2417354C>A | CA408015138 | TGM6 | c.1459C>A (p.Leu487Met) | |
| 20 | g.2417354C>G | CA408015139 | TGM6 | c.1459C>G (p.Leu487Val) | |
| 20 | g.2417354C>T | CA509547577 | TGM6 | c.1459C>T (p.Leu487=) | gnomAD v4 |
| 20 | g.2417355T>A | CA408015141 | TGM6 | c.1460T>A (p.Leu487Gln) | |
| 20 | g.2417355T>C | CA408015143 | TGM6 | c.1460T>C (p.Leu487Pro) | |
| 20 | g.2417355T>G | CA408015144 | TGM6 | c.1460T>G (p.Leu487Arg) | gnomAD v4 |
| 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) |