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 |
|---|---|---|---|---|---|
| 5 | g.150129766C>A | CA361714483 | PDGFRB | c.1570G>T (p.Val524Leu) c.*884G>T (n.*884G>T) c.1378G>T (p.Val460Leu) c.1087G>T (p.Val363Leu) | |
| 5 | g.150129766C>G | CA361714486 | PDGFRB | c.1570G>C (p.Val524Leu) c.*884G>C (n.*884G>C) c.1378G>C (p.Val460Leu) c.1087G>C (p.Val363Leu) | |
| 5 | g.150129766C>T | CA361714489 | PDGFRB | c.1570G>A (p.Val524Met) c.*884G>A (n.*884G>A) c.1378G>A (p.Val460Met) c.1087G>A (p.Val363Met) | |
| 5 | g.150129767C>A | CA447144625 | PDGFRB | c.1569G>T (p.Val523=) c.*883G>T (n.*883G>T) c.1377G>T (p.Val459=) c.1086G>T (p.Val362=) | |
| 5 | g.150129767C>G | CA447144627 | PDGFRB | c.1569G>C (p.Val523=) c.*883G>C (n.*883G>C) c.1377G>C (p.Val459=) c.1086G>C (p.Val362=) | |
| 5 | g.150129767C>T | CA447144628 | PDGFRB | c.1569G>A (p.Val523=) c.*883G>A (n.*883G>A) c.1377G>A (p.Val459=) c.1086G>A (p.Val362=) | gnomAD v4 |
| 5 | g.150129768A>C | CA361714492 | PDGFRB | c.1568T>G (p.Val523Gly) c.*882T>G (n.*882T>G) c.1376T>G (p.Val459Gly) c.1085T>G (p.Val362Gly) | |
| 5 | g.150129768A>G | CA361714496 | PDGFRB | c.1568T>C (p.Val523Ala) c.*882T>C (n.*882T>C) c.1376T>C (p.Val459Ala) c.1085T>C (p.Val362Ala) | |
| 5 | g.150129768A>T | CA361714498 | PDGFRB | c.1568T>A (p.Val523Glu) c.*882T>A (n.*882T>A) c.1376T>A (p.Val459Glu) c.1085T>A (p.Val362Glu) | |
| 5 | g.150129769C>A | CA361714503 | PDGFRB | c.1567G>T (p.Val523Leu) c.*881G>T (n.*881G>T) c.1375G>T (p.Val459Leu) c.1084G>T (p.Val362Leu) | |
| 5 | g.150129769C= | CA1590805610 | PDGFRB | c.1567G= (p.Val523=) c.*881G= (n.*881G=) c.1375G= (p.Val459=) c.1084G= (p.Val362=) | |
| 5 | g.150129769C>G | CA361714502 | PDGFRB | c.1567G>C (p.Val523Leu) c.*881G>C (n.*881G>C) c.1375G>C (p.Val459Leu) c.1084G>C (p.Val362Leu) | |
| 5 | g.150129769C>T | CA3507939 | PDGFRB | c.1567G>A (p.Val523Met) c.*881G>A (n.*881G>A) c.1375G>A (p.Val459Met) c.1084G>A (p.Val362Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129770G>A | CA3507940 | PDGFRB | c.1566C>T (p.Ile522=) c.*880C>T (n.*880C>T) c.1374C>T (p.Ile458=) c.1083C>T (p.Ile361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129770G>C | CA361714504 | PDGFRB | c.1566C>G (p.Ile522Met) c.*880C>G (n.*880C>G) c.1374C>G (p.Ile458Met) c.1083C>G (p.Ile361Met) | dbSNP |
| 5 | g.150129770G= | CA1590805611 | PDGFRB | c.1566C= (p.Ile522=) c.*880C= (n.*880C=) c.1374C= (p.Ile458=) c.1083C= (p.Ile361=) | |
| 5 | g.150129770G>T | CA447144637 | PDGFRB | c.1566C>A (p.Ile522=) c.*880C>A (n.*880C>A) c.1374C>A (p.Ile458=) c.1083C>A (p.Ile361=) | gnomAD v4 |
| 5 | g.150129771A>C | CA361714505 | PDGFRB | c.1565T>G (p.Ile522Ser) c.*879T>G (n.*879T>G) c.1373T>G (p.Ile458Ser) c.1082T>G (p.Ile361Ser) | |
| 5 | g.150129771A>G | CA361714506 | PDGFRB | c.1565T>C (p.Ile522Thr) c.*879T>C (n.*879T>C) c.1373T>C (p.Ile458Thr) c.1082T>C (p.Ile361Thr) | gnomAD v4 |
| 5 | g.150129771A>T | CA361714507 | PDGFRB | c.1565T>A (p.Ile522Asn) c.*879T>A (n.*879T>A) c.1373T>A (p.Ile458Asn) c.1082T>A (p.Ile361Asn) | |
| 5 | g.150129772T>A | CA361714508 | PDGFRB | c.1564A>T (p.Ile522Phe) c.*878A>T (n.*878A>T) c.1372A>T (p.Ile458Phe) c.1081A>T (p.Ile361Phe) | |
| 5 | g.150129772T>C | CA361714509 | PDGFRB | c.1564A>G (p.Ile522Val) c.*878A>G (n.*878A>G) c.1372A>G (p.Ile458Val) c.1081A>G (p.Ile361Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150129772T>G | CA361714512 | PDGFRB | c.1564A>C (p.Ile522Leu) c.*878A>C (n.*878A>C) c.1372A>C (p.Ile458Leu) c.1081A>C (p.Ile361Leu) | |
| 5 | g.150129772T= | CA1590805612 | PDGFRB | c.1564A= (p.Ile522=) c.*878A= (n.*878A=) c.1372A= (p.Ile458=) c.1081A= (p.Ile361=) | |
| 5 | g.150129773G>A | CA447144657 | PDGFRB | c.1563C>T (p.Val521=) c.*877C>T (n.*877C>T) c.1371C>T (p.Val457=) c.1080C>T (p.Val360=) | ClinVar dbSNP |
| 5 | g.150129773G>C | CA447144655 | PDGFRB | c.1563C>G (p.Val521=) c.*877C>G (n.*877C>G) c.1371C>G (p.Val457=) c.1080C>G (p.Val360=) | |
| 5 | g.150129773G= | CA1590805613 | PDGFRB | c.1563C= (p.Val521=) c.*877C= (n.*877C=) c.1371C= (p.Val457=) c.1080C= (p.Val360=) | |
| 5 | g.150129773G>T | CA447144654 | PDGFRB | c.1563C>A (p.Val521=) c.*877C>A (n.*877C>A) c.1371C>A (p.Val457=) c.1080C>A (p.Val360=) | |
| 5 | g.150129774A= | CA1590805614 | PDGFRB | c.1562T= (p.Val521=) c.*876T= (n.*876T=) c.1370T= (p.Val457=) c.1079T= (p.Val360=) | |
| 5 | g.150129774A>C | CA361714515 | PDGFRB | c.1562T>G (p.Val521Gly) c.*876T>G (n.*876T>G) c.1370T>G (p.Val457Gly) c.1079T>G (p.Val360Gly) | ClinVar dbSNP |
| 5 | g.150129774A>G | CA361714517 | PDGFRB | c.1562T>C (p.Val521Ala) c.*876T>C (n.*876T>C) c.1370T>C (p.Val457Ala) c.1079T>C (p.Val360Ala) | |
| 5 | g.150129774A>T | CA361714520 | PDGFRB | c.1562T>A (p.Val521Asp) c.*876T>A (n.*876T>A) c.1370T>A (p.Val457Asp) c.1079T>A (p.Val360Asp) | dbSNP |
| 5 | g.150129775C>A | CA361714528 | PDGFRB | c.1561G>T (p.Val521Phe) c.*875G>T (n.*875G>T) c.1369G>T (p.Val457Phe) c.1078G>T (p.Val360Phe) | |
| 5 | g.150129775C>G | CA361714527 | PDGFRB | c.1561G>C (p.Val521Leu) c.*875G>C (n.*875G>C) c.1369G>C (p.Val457Leu) c.1078G>C (p.Val360Leu) | |
| 5 | g.150129775C>T | CA361714524 | PDGFRB | c.1561G>A (p.Val521Ile) c.*875G>A (n.*875G>A) c.1369G>A (p.Val457Ile) c.1078G>A (p.Val360Ile) | |
| 5 | g.150129778_150129780del | CA2580614773 | PDGFRB | c.1559_1561del (p.Glu520del) c.*873_*875del (n.*873_*875del) c.1367_1369del (p.Glu456del) c.1076_1078del (p.Glu359del) | ClinVar |
| 5 | g.150129776C>A | CA361714532 | PDGFRB | c.1560G>T (p.Glu520Asp) c.*874G>T (n.*874G>T) c.1368G>T (p.Glu456Asp) c.1077G>T (p.Glu359Asp) | |
| 5 | g.150129776C>G | CA361714535 | PDGFRB | c.1560G>C (p.Glu520Asp) c.*874G>C (n.*874G>C) c.1368G>C (p.Glu456Asp) c.1077G>C (p.Glu359Asp) | |
| 5 | g.150129776C>T | CA447144666 | PDGFRB | c.1560G>A (p.Glu520=) c.*874G>A (n.*874G>A) c.1368G>A (p.Glu456=) c.1077G>A (p.Glu359=) | gnomAD v4 |
| 5 | g.150129777T>A | CA361714539 | PDGFRB | c.1559A>T (p.Glu520Val) c.*873A>T (n.*873A>T) c.1367A>T (p.Glu456Val) c.1076A>T (p.Glu359Val) | |
| 5 | g.150129777T>C | CA361714540 | PDGFRB | c.1559A>G (p.Glu520Gly) c.*873A>G (n.*873A>G) c.1367A>G (p.Glu456Gly) c.1076A>G (p.Glu359Gly) | |
| 5 | g.150129777T>G | CA361714542 | PDGFRB | c.1559A>C (p.Glu520Ala) c.*873A>C (n.*873A>C) c.1367A>C (p.Glu456Ala) c.1076A>C (p.Glu359Ala) | |
| 5 | g.150129778C>A | CA361714547 | PDGFRB | c.1558G>T (p.Glu520Ter) c.*872G>T (n.*872G>T) c.1366G>T (p.Glu456Ter) c.1075G>T (p.Glu359Ter) | |
| 5 | g.150129778C>G | CA361714550 | PDGFRB | c.1558G>C (p.Glu520Gln) c.*872G>C (n.*872G>C) c.1366G>C (p.Glu456Gln) c.1075G>C (p.Glu359Gln) | |
| 5 | g.150129778C>T | CA361714553 | PDGFRB | c.1558G>A (p.Glu520Lys) c.*872G>A (n.*872G>A) c.1366G>A (p.Glu456Lys) c.1075G>A (p.Glu359Lys) | |
| 5 | g.150129779C>A | CA361714557 | PDGFRB | c.1557G>T (p.Gln519His) c.*871G>T (n.*871G>T) c.1365G>T (p.Gln455His) c.1074G>T (p.Gln358His) | |
| 5 | g.150129779C>G | CA361714560 | PDGFRB | c.1557G>C (p.Gln519His) c.*871G>C (n.*871G>C) c.1365G>C (p.Gln455His) c.1074G>C (p.Gln358His) | |
| 5 | g.150129779C>T | CA447144672 | PDGFRB | c.1557G>A (p.Gln519=) c.*871G>A (n.*871G>A) c.1365G>A (p.Gln455=) c.1074G>A (p.Gln358=) | gnomAD v4 |
| 5 | g.150129780T>A | CA361714562 | PDGFRB | c.1556A>T (p.Gln519Leu) c.*870A>T (n.*870A>T) c.1364A>T (p.Gln455Leu) c.1073A>T (p.Gln358Leu) | |
| 5 | g.150129780T>C | CA361714564 | PDGFRB | c.1556A>G (p.Gln519Arg) c.*870A>G (n.*870A>G) c.1364A>G (p.Gln455Arg) c.1073A>G (p.Gln358Arg) | |
| 5 | g.150129780T>G | CA361714566 | PDGFRB | c.1556A>C (p.Gln519Pro) c.*870A>C (n.*870A>C) c.1364A>C (p.Gln455Pro) c.1073A>C (p.Gln358Pro) | |
| 5 | g.150129781G>A | CA361714568 | PDGFRB | c.1555C>T (p.Gln519Ter) c.*869C>T (n.*869C>T) c.1363C>T (p.Gln455Ter) c.1072C>T (p.Gln358Ter) | gnomAD v4 |
| 5 | g.150129781G>C | CA361714571 | PDGFRB | c.1555C>G (p.Gln519Glu) c.*869C>G (n.*869C>G) c.1363C>G (p.Gln455Glu) c.1072C>G (p.Gln358Glu) | |
| 5 | g.150129781G>T | CA361714570 | PDGFRB | c.1555C>A (p.Gln519Lys) c.*869C>A (n.*869C>A) c.1363C>A (p.Gln455Lys) c.1072C>A (p.Gln358Lys) | gnomAD v4 |
| 5 | g.150129782C>A | CA3507941 | PDGFRB | c.1554G>T (p.Thr518=) c.*868G>T (n.*868G>T) c.1362G>T (p.Thr454=) c.1071G>T (p.Thr357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129782C= | CA1590805615 | PDGFRB | c.1554G= (p.Thr518=) c.*868G= (n.*868G=) c.1362G= (p.Thr454=) c.1071G= (p.Thr357=) | |
| 5 | g.150129782C>G | CA3507942 | PDGFRB | c.1554G>C (p.Thr518=) c.*868G>C (n.*868G>C) c.1362G>C (p.Thr454=) c.1071G>C (p.Thr357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129782C>T | CA3507943 | PDGFRB | c.1554G>A (p.Thr518=) c.*868G>A (n.*868G>A) c.1362G>A (p.Thr454=) c.1071G>A (p.Thr357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129783G>A | CA3507944 | PDGFRB | c.1553C>T (p.Thr518Met) c.*867C>T (n.*867C>T) c.1361C>T (p.Thr454Met) c.1070C>T (p.Thr357Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129783G>C | CA361714575 | PDGFRB | c.1553C>G (p.Thr518Arg) c.*867C>G (n.*867C>G) c.1361C>G (p.Thr454Arg) c.1070C>G (p.Thr357Arg) | dbSNP |
| 5 | g.150129783G= | CA1590805616 | PDGFRB | c.1553C= (p.Thr518=) c.*867C= (n.*867C=) c.1361C= (p.Thr454=) c.1070C= (p.Thr357=) | |
| 5 | g.150129783G>T | CA361714576 | PDGFRB | c.1553C>A (p.Thr518Lys) c.*867C>A (n.*867C>A) c.1361C>A (p.Thr454Lys) c.1070C>A (p.Thr357Lys) | |
| 5 | g.150129784T>A | CA361714577 | PDGFRB | c.1552A>T (p.Thr518Ser) c.*866A>T (n.*866A>T) c.1360A>T (p.Thr454Ser) c.1069A>T (p.Thr357Ser) | |
| 5 | g.150129784T>C | CA361714578 | PDGFRB | c.1552A>G (p.Thr518Ala) c.*866A>G (n.*866A>G) c.1360A>G (p.Thr454Ala) c.1069A>G (p.Thr357Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.150129784T>G | CA361714580 | PDGFRB | c.1552A>C (p.Thr518Pro) c.*866A>C (n.*866A>C) c.1360A>C (p.Thr454Pro) c.1069A>C (p.Thr357Pro) | |
| 5 | g.150129784T= | CA1590805617 | PDGFRB | c.1552A= (p.Thr518=) c.*866A= (n.*866A=) c.1360A= (p.Thr454=) c.1069A= (p.Thr357=) | |
| 5 | g.150129785G>A | CA447144686 | PDGFRB | c.1551C>T (p.Asp517=) c.*865C>T (n.*865C>T) c.1359C>T (p.Asp453=) c.1068C>T (p.Asp356=) | gnomAD v4 |
| 5 | g.150129785G>C | CA361714582 | PDGFRB | c.1551C>G (p.Asp517Glu) c.*865C>G (n.*865C>G) c.1359C>G (p.Asp453Glu) c.1068C>G (p.Asp356Glu) | |
| 5 | g.150129785G>T | CA361714583 | PDGFRB | c.1551C>A (p.Asp517Glu) c.*865C>A (n.*865C>A) c.1359C>A (p.Asp453Glu) c.1068C>A (p.Asp356Glu) | |
| 5 | g.150129786T>A | CA361714585 | PDGFRB | c.1550A>T (p.Asp517Val) c.*864A>T (n.*864A>T) c.1358A>T (p.Asp453Val) c.1067A>T (p.Asp356Val) | |
| 5 | g.150129786T>C | CA361714587 | PDGFRB | c.1550A>G (p.Asp517Gly) c.*864A>G (n.*864A>G) c.1358A>G (p.Asp453Gly) c.1067A>G (p.Asp356Gly) | |
| 5 | g.150129786T>G | CA361714584 | PDGFRB | c.1550A>C (p.Asp517Ala) c.*864A>C (n.*864A>C) c.1358A>C (p.Asp453Ala) c.1067A>C (p.Asp356Ala) | dbSNP |
| 5 | g.150129787C>A | CA361714590 | PDGFRB | c.1549G>T (p.Asp517Tyr) c.*863G>T (n.*863G>T) c.1357G>T (p.Asp453Tyr) c.1066G>T (p.Asp356Tyr) | |
| 5 | g.150129787C>G | CA361714591 | PDGFRB | c.1549G>C (p.Asp517His) c.*863G>C (n.*863G>C) c.1357G>C (p.Asp453His) c.1066G>C (p.Asp356His) | |
| 5 | g.150129787C>T | CA361714593 | PDGFRB | c.1549G>A (p.Asp517Asn) c.*863G>A (n.*863G>A) c.1357G>A (p.Asp453Asn) c.1066G>A (p.Asp356Asn) | |
| 5 | g.150129788C>A | CA361714594 | PDGFRB | c.1548G>T (p.Gln516His) c.*862G>T (n.*862G>T) c.1356G>T (p.Gln452His) c.1065G>T (p.Gln355His) | |
| 5 | g.150129788C>G | CA361714595 | PDGFRB | c.1548G>C (p.Gln516His) c.*862G>C (n.*862G>C) c.1356G>C (p.Gln452His) c.1065G>C (p.Gln355His) | |
| 5 | g.150129788C>T | CA447144694 | PDGFRB | c.1548G>A (p.Gln516=) c.*862G>A (n.*862G>A) c.1356G>A (p.Gln452=) c.1065G>A (p.Gln355=) | |
| 5 | g.150129789T>A | CA361714600 | PDGFRB | c.1547A>T (p.Gln516Leu) c.*861A>T (n.*861A>T) c.1355A>T (p.Gln452Leu) c.1064A>T (p.Gln355Leu) | |
| 5 | g.150129789T>C | CA129065377 | PDGFRB | c.1547A>G (p.Gln516Arg) c.*861A>G (n.*861A>G) c.1355A>G (p.Gln452Arg) c.1064A>G (p.Gln355Arg) | dbSNP gnomAD v4 |
| 5 | g.150129789T>G | CA361714597 | PDGFRB | c.1547A>C (p.Gln516Pro) c.*861A>C (n.*861A>C) c.1355A>C (p.Gln452Pro) c.1064A>C (p.Gln355Pro) | |
| 5 | g.150129789T= | CA1590805618 | PDGFRB | c.1547A= (p.Gln516=) c.*861A= (n.*861A=) c.1355A= (p.Gln452=) c.1064A= (p.Gln355=) | |
| 5 | g.150129790G>A | CA361714602 | PDGFRB | c.1546C>T (p.Gln516Ter) c.*860C>T (n.*860C>T) c.1354C>T (p.Gln452Ter) c.1063C>T (p.Gln355Ter) | |
| 5 | g.150129790G>C | CA361714603 | PDGFRB | c.1546C>G (p.Gln516Glu) c.*860C>G (n.*860C>G) c.1354C>G (p.Gln452Glu) c.1063C>G (p.Gln355Glu) | |
| 5 | g.150129790G>T | CA361714604 | PDGFRB | c.1546C>A (p.Gln516Lys) c.*860C>A (n.*860C>A) c.1354C>A (p.Gln452Lys) c.1063C>A (p.Gln355Lys) | |
| 5 | g.150129791G>A | CA447144699 | PDGFRB | c.1545C>T (p.Gly515=) c.*859C>T (n.*859C>T) c.1353C>T (p.Gly451=) c.1062C>T (p.Gly354=) | dbSNP gnomAD v4 |
| 5 | g.150129791G>C | CA447144704 | PDGFRB | c.1545C>G (p.Gly515=) c.*859C>G (n.*859C>G) c.1353C>G (p.Gly451=) c.1062C>G (p.Gly354=) | |
| 5 | g.150129791G>T | CA447144702 | PDGFRB | c.1545C>A (p.Gly515=) c.*859C>A (n.*859C>A) c.1353C>A (p.Gly451=) c.1062C>A (p.Gly354=) | |
| 5 | g.150129792C>A | CA361714605 | PDGFRB | c.1544G>T (p.Gly515Val) c.*858G>T (n.*858G>T) c.1352G>T (p.Gly451Val) c.1061G>T (p.Gly354Val) | gnomAD v4 |
| 5 | g.150129792C>G | CA361714606 | PDGFRB | c.1544G>C (p.Gly515Ala) c.*858G>C (n.*858G>C) c.1352G>C (p.Gly451Ala) c.1061G>C (p.Gly354Ala) | |
| 5 | g.150129792C>T | CA361714607 | PDGFRB | c.1544G>A (p.Gly515Asp) c.*858G>A (n.*858G>A) c.1352G>A (p.Gly451Asp) c.1061G>A (p.Gly354Asp) | |
| 5 | g.150129793C>A | CA361714612 | PDGFRB | c.1543G>T (p.Gly515Cys) c.*857G>T (n.*857G>T) c.1351G>T (p.Gly451Cys) c.1060G>T (p.Gly354Cys) | |
| 5 | g.150129793C>G | CA361714608 | PDGFRB | c.1543G>C (p.Gly515Arg) c.*857G>C (n.*857G>C) c.1351G>C (p.Gly451Arg) c.1060G>C (p.Gly354Arg) | |
| 5 | g.150129793C>T | CA361714609 | PDGFRB | c.1543G>A (p.Gly515Ser) c.*857G>A (n.*857G>A) c.1351G>A (p.Gly451Ser) c.1060G>A (p.Gly354Ser) | |
| 5 | g.150129794C>A | CA447144707 | PDGFRB | c.1542G>T (p.Val514=) c.*856G>T (n.*856G>T) c.1350G>T (p.Val450=) c.1059G>T (p.Val353=) | |
| 5 | g.150129794C= | CA1590805619 | PDGFRB | c.1542G= (p.Val514=) c.*856G= (n.*856G=) c.1350G= (p.Val450=) c.1059G= (p.Val353=) | |
| 5 | g.150129794C>G | CA447144709 | PDGFRB | c.1542G>C (p.Val514=) c.*856G>C (n.*856G>C) c.1350G>C (p.Val450=) c.1059G>C (p.Val353=) | |
| 5 | g.150129794C>T | CA447144711 | PDGFRB | c.1542G>A (p.Val514=) c.*856G>A (n.*856G>A) c.1350G>A (p.Val450=) c.1059G>A (p.Val353=) | dbSNP |
| 5 | g.150129795A>C | CA361714614 | PDGFRB | c.1541T>G (p.Val514Gly) c.*855T>G (n.*855T>G) c.1349T>G (p.Val450Gly) c.1058T>G (p.Val353Gly) | |
| 5 | g.150129795A>G | CA361714616 | PDGFRB | c.1541T>C (p.Val514Ala) c.*855T>C (n.*855T>C) c.1349T>C (p.Val450Ala) c.1058T>C (p.Val353Ala) | |
| 5 | g.150129795A>T | CA361714618 | PDGFRB | c.1541T>A (p.Val514Glu) c.*855T>A (n.*855T>A) c.1349T>A (p.Val450Glu) c.1058T>A (p.Val353Glu) | |
| 5 | g.150129796C>A | CA361714619 | PDGFRB | c.1540G>T (p.Val514Leu) c.*854G>T (n.*854G>T) c.1348G>T (p.Val450Leu) c.1057G>T (p.Val353Leu) | |
| 5 | g.150129796C>G | CA361714621 | PDGFRB | c.1540G>C (p.Val514Leu) c.*854G>C (n.*854G>C) c.1348G>C (p.Val450Leu) c.1057G>C (p.Val353Leu) | dbSNP |
| 5 | g.150129796C>T | CA361714623 | PDGFRB | c.1540G>A (p.Val514Met) c.*854G>A (n.*854G>A) c.1348G>A (p.Val450Met) c.1057G>A (p.Val353Met) | ClinVar dbSNP |
| 5 | g.150129797A= | CA1590805620 | PDGFRB | c.1539T= (p.Ala513=) c.*853T= (n.*853T=) c.1347T= (p.Ala449=) c.1056T= (p.Ala352=) | |
| 5 | g.150129797A>C | CA447144715 | PDGFRB | c.1539T>G (p.Ala513=) c.*853T>G (n.*853T>G) c.1347T>G (p.Ala449=) c.1056T>G (p.Ala352=) | |
| 5 | g.150129797A>G | CA3507945 | PDGFRB | c.1539T>C (p.Ala513=) c.*853T>C (n.*853T>C) c.1347T>C (p.Ala449=) c.1056T>C (p.Ala352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129797A>T | CA447144719 | PDGFRB | c.1539T>A (p.Ala513=) c.*853T>A (n.*853T>A) c.1347T>A (p.Ala449=) c.1056T>A (p.Ala352=) | |
| 5 | g.150129798G>A | CA361714626 | PDGFRB | c.1538C>T (p.Ala513Val) c.*852C>T (n.*852C>T) c.1346C>T (p.Ala449Val) c.1055C>T (p.Ala352Val) | |
| 5 | g.150129798G>C | CA361714628 | PDGFRB | c.1538C>G (p.Ala513Gly) c.*852C>G (n.*852C>G) c.1346C>G (p.Ala449Gly) c.1055C>G (p.Ala352Gly) | dbSNP |
| 5 | g.150129798G>T | CA361714630 | PDGFRB | c.1538C>A (p.Ala513Asp) c.*852C>A (n.*852C>A) c.1346C>A (p.Ala449Asp) c.1055C>A (p.Ala352Asp) | |
| 5 | g.150129799C>A | CA361714632 | PDGFRB | c.1537G>T (p.Ala513Ser) c.*851G>T (n.*851G>T) c.1345G>T (p.Ala449Ser) c.1054G>T (p.Ala352Ser) | |
| 5 | g.150129799C= | CA1590805621 | PDGFRB | c.1537G= (p.Ala513=) c.*851G= (n.*851G=) c.1345G= (p.Ala449=) c.1054G= (p.Ala352=) | |
| 5 | g.150129799C>G | CA361714634 | PDGFRB | c.1537G>C (p.Ala513Pro) c.*851G>C (n.*851G>C) c.1345G>C (p.Ala449Pro) c.1054G>C (p.Ala352Pro) | dbSNP |
| 5 | g.150129799C>T | CA3507946 | PDGFRB | c.1537G>A (p.Ala513Thr) c.*851G>A (n.*851G>A) c.1345G>A (p.Ala449Thr) c.1054G>A (p.Ala352Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129800G>A | CA3507947 | PDGFRB | c.1536C>T (p.Asn512=) c.*850C>T (n.*850C>T) c.1344C>T (p.Asn448=) c.1053C>T (p.Asn351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129800G>C | CA361714640 | PDGFRB | c.1536C>G (p.Asn512Lys) c.*850C>G (n.*850C>G) c.1344C>G (p.Asn448Lys) c.1053C>G (p.Asn351Lys) | dbSNP |
| 5 | g.150129800G= | CA1590805622 | PDGFRB | c.1536C= (p.Asn512=) c.*850C= (n.*850C=) c.1344C= (p.Asn448=) c.1053C= (p.Asn351=) | |
| 5 | g.150129800G>T | CA361714638 | PDGFRB | c.1536C>A (p.Asn512Lys) c.*850C>A (n.*850C>A) c.1344C>A (p.Asn448Lys) c.1053C>A (p.Asn351Lys) | |
| 5 | g.150129801T>A | CA361714642 | PDGFRB | c.1535A>T (p.Asn512Ile) c.*849A>T (n.*849A>T) c.1343A>T (p.Asn448Ile) c.1052A>T (p.Asn351Ile) | dbSNP |
| 5 | g.150129801T>C | CA3507948 | PDGFRB | c.1535A>G (p.Asn512Ser) c.*849A>G (n.*849A>G) c.1343A>G (p.Asn448Ser) c.1052A>G (p.Asn351Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129801T>G | CA361714645 | PDGFRB | c.1535A>C (p.Asn512Thr) c.*849A>C (n.*849A>C) c.1343A>C (p.Asn448Thr) c.1052A>C (p.Asn351Thr) | |
| 5 | g.150129801T= | CA1590805623 | PDGFRB | c.1535A= (p.Asn512=) c.*849A= (n.*849A=) c.1343A= (p.Asn448=) c.1052A= (p.Asn351=) | |
| 5 | g.150129802T>A | CA361714646 | PDGFRB | c.1534A>T (p.Asn512Tyr) c.*848A>T (n.*848A>T) c.1342A>T (p.Asn448Tyr) c.1051A>T (p.Asn351Tyr) | |
| 5 | g.150129802T>C | CA361714648 | PDGFRB | c.1534A>G (p.Asn512Asp) c.*848A>G (n.*848A>G) c.1342A>G (p.Asn448Asp) c.1051A>G (p.Asn351Asp) | |
| 5 | g.150129802T>G | CA361714650 | PDGFRB | c.1534A>C (p.Asn512His) c.*848A>C (n.*848A>C) c.1342A>C (p.Asn448His) c.1051A>C (p.Asn351His) | gnomAD v4 |
| 5 | g.150129803G>A | CA447144732 | PDGFRB | c.1533C>T (p.Arg511=) c.*847C>T (n.*847C>T) c.1341C>T (p.Arg447=) c.1050C>T (p.Arg350=) | dbSNP gnomAD v4 |
| 5 | g.150129803G>C | CA447144734 | PDGFRB | c.1533C>G (p.Arg511=) c.*847C>G (n.*847C>G) c.1341C>G (p.Arg447=) c.1050C>G (p.Arg350=) | |
| 5 | g.150129803G= | CA1590805624 | PDGFRB | c.1533C= (p.Arg511=) c.*847C= (n.*847C=) c.1341C= (p.Arg447=) c.1050C= (p.Arg350=) | |
| 5 | g.150129803G>T | CA447144733 | PDGFRB | c.1533C>A (p.Arg511=) c.*847C>A (n.*847C>A) c.1341C>A (p.Arg447=) c.1050C>A (p.Arg350=) | |
| 5 | g.150129804C>A | CA361714652 | PDGFRB | c.1532G>T (p.Arg511Leu) c.*846G>T (n.*846G>T) c.1340G>T (p.Arg447Leu) c.1049G>T (p.Arg350Leu) | dbSNP gnomAD v4 |
| 5 | g.150129804C= | CA1590805625 | PDGFRB | c.1532G= (p.Arg511=) c.*846G= (n.*846G=) c.1340G= (p.Arg447=) c.1049G= (p.Arg350=) | |
| 5 | g.150129804C>G | CA361714654 | PDGFRB | c.1532G>C (p.Arg511Pro) c.*846G>C (n.*846G>C) c.1340G>C (p.Arg447Pro) c.1049G>C (p.Arg350Pro) | |
| 5 | g.150129804C>T | CA361714656 | PDGFRB | c.1532G>A (p.Arg511His) c.*846G>A (n.*846G>A) c.1340G>A (p.Arg447His) c.1049G>A (p.Arg350His) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.150129805G>A | CA3507949 | PDGFRB | c.1531C>T (p.Arg511Cys) c.*845C>T (n.*845C>T) c.1339C>T (p.Arg447Cys) c.1048C>T (p.Arg350Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129805G>C | CA361714659 | PDGFRB | c.1531C>G (p.Arg511Gly) c.*845C>G (n.*845C>G) c.1339C>G (p.Arg447Gly) c.1048C>G (p.Arg350Gly) | |
| 5 | g.150129805G= | CA1590805626 | PDGFRB | c.1531C= (p.Arg511=) c.*845C= (n.*845C=) c.1339C= (p.Arg447=) c.1048C= (p.Arg350=) | |
| 5 | g.150129805G>T | CA361714662 | PDGFRB | c.1531C>A (p.Arg511Ser) c.*845C>A (n.*845C>A) c.1339C>A (p.Arg447Ser) c.1048C>A (p.Arg350Ser) | |
| 5 | g.150129806C>A | CA447144740 | PDGFRB | c.1530G>T (p.Leu510=) c.*844G>T (n.*844G>T) c.1338G>T (p.Leu446=) c.1047G>T (p.Leu349=) | |
| 5 | g.150129806C= | CA1590805627 | PDGFRB | c.1530G= (p.Leu510=) c.*844G= (n.*844G=) c.1338G= (p.Leu446=) c.1047G= (p.Leu349=) | |
| 5 | g.150129806C>G | CA447144741 | PDGFRB | c.1530G>C (p.Leu510=) c.*844G>C (n.*844G>C) c.1338G>C (p.Leu446=) c.1047G>C (p.Leu349=) | |
| 5 | g.150129806C>T | CA447144742 | PDGFRB | c.1530G>A (p.Leu510=) c.*844G>A (n.*844G>A) c.1338G>A (p.Leu446=) c.1047G>A (p.Leu349=) | dbSNP gnomAD v2 |
| 5 | g.150129807A>C | CA361714671 | PDGFRB | c.1529T>G (p.Leu510Arg) c.*843T>G (n.*843T>G) c.1337T>G (p.Leu446Arg) c.1046T>G (p.Leu349Arg) | |
| 5 | g.150129807A>G | CA361714668 | PDGFRB | c.1529T>C (p.Leu510Pro) c.*843T>C (n.*843T>C) c.1337T>C (p.Leu446Pro) c.1046T>C (p.Leu349Pro) | |
| 5 | g.150129807A>T | CA361714667 | PDGFRB | c.1529T>A (p.Leu510Gln) c.*843T>A (n.*843T>A) c.1337T>A (p.Leu446Gln) c.1046T>A (p.Leu349Gln) | |
| 5 | g.150129808G>A | CA447144747 | PDGFRB | c.1528C>T (p.Leu510=) c.*842C>T (n.*842C>T) c.1336C>T (p.Leu446=) c.1045C>T (p.Leu349=) | gnomAD v4 |
| 5 | g.150129808G>C | CA361714674 | PDGFRB | c.1528C>G (p.Leu510Val) c.*842C>G (n.*842C>G) c.1336C>G (p.Leu446Val) c.1045C>G (p.Leu349Val) | |
| 5 | g.150129808G>T | CA361714676 | PDGFRB | c.1528C>A (p.Leu510Met) c.*842C>A (n.*842C>A) c.1336C>A (p.Leu446Met) c.1045C>A (p.Leu349Met) | |
| 5 | g.150129809C>A | CA3507951 | PDGFRB | c.1527G>T (p.Thr509=) c.*841G>T (n.*841G>T) c.1335G>T (p.Thr445=) c.1044G>T (p.Thr348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129809C= | CA1590805628 | PDGFRB | c.1527G= (p.Thr509=) c.*841G= (n.*841G=) c.1335G= (p.Thr445=) c.1044G= (p.Thr348=) | |
| 5 | g.150129809C>G | CA447144751 | PDGFRB | c.1527G>C (p.Thr509=) c.*841G>C (n.*841G>C) c.1335G>C (p.Thr445=) c.1044G>C (p.Thr348=) | |
| 5 | g.150129809C>T | CA3507950 | PDGFRB | c.1527G>A (p.Thr509=) c.*841G>A (n.*841G>A) c.1335G>A (p.Thr445=) c.1044G>A (p.Thr348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129810G>A | CA3507952 | PDGFRB | c.1526C>T (p.Thr509Met) c.*840C>T (n.*840C>T) c.1334C>T (p.Thr445Met) c.1043C>T (p.Thr348Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129810G>C | CA361714682 | PDGFRB | c.1526C>G (p.Thr509Arg) c.*840C>G (n.*840C>G) c.1334C>G (p.Thr445Arg) c.1043C>G (p.Thr348Arg) | |
| 5 | g.150129810G= | CA1590805629 | PDGFRB | c.1526C= (p.Thr509=) c.*840C= (n.*840C=) c.1334C= (p.Thr445=) c.1043C= (p.Thr348=) | |
| 5 | g.150129810G>T | CA361714683 | PDGFRB | c.1526C>A (p.Thr509Lys) c.*840C>A (n.*840C>A) c.1334C>A (p.Thr445Lys) c.1043C>A (p.Thr348Lys) | |
| 5 | g.150129811T>A | CA361714686 | PDGFRB | c.1525A>T (p.Thr509Ser) c.*839A>T (n.*839A>T) c.1333A>T (p.Thr445Ser) c.1042A>T (p.Thr348Ser) | dbSNP |
| 5 | g.150129811T>C | CA361714688 | PDGFRB | c.1525A>G (p.Thr509Ala) c.*839A>G (n.*839A>G) c.1333A>G (p.Thr445Ala) c.1042A>G (p.Thr348Ala) | |
| 5 | g.150129811T>G | CA361714689 | PDGFRB | c.1525A>C (p.Thr509Pro) c.*839A>C (n.*839A>C) c.1333A>C (p.Thr445Pro) c.1042A>C (p.Thr348Pro) | dbSNP |
| 5 | g.150129811T= | CA1590805630 | PDGFRB | c.1525A= (p.Thr509=) c.*839A= (n.*839A=) c.1333A= (p.Thr445=) c.1042A= (p.Thr348=) | |
| 5 | g.150129812G>A | CA447144760 | PDGFRB | c.1524C>T (p.Cys508=) c.*838C>T (n.*838C>T) c.1332C>T (p.Cys444=) c.1041C>T (p.Cys347=) | |
| 5 | g.150129812G>C | CA361714691 | PDGFRB | c.1524C>G (p.Cys508Trp) c.*838C>G (n.*838C>G) c.1332C>G (p.Cys444Trp) c.1041C>G (p.Cys347Trp) | |
| 5 | g.150129812G>T | CA361714693 | PDGFRB | c.1524C>A (p.Cys508Ter) c.*838C>A (n.*838C>A) c.1332C>A (p.Cys444Ter) c.1041C>A (p.Cys347Ter) | |
| 5 | g.150129813C>A | CA361714694 | PDGFRB | c.1523G>T (p.Cys508Phe) c.*837G>T (n.*837G>T) c.1331G>T (p.Cys444Phe) c.1040G>T (p.Cys347Phe) | |
| 5 | g.150129813C>G | CA361714697 | PDGFRB | c.1523G>C (p.Cys508Ser) c.*837G>C (n.*837G>C) c.1331G>C (p.Cys444Ser) c.1040G>C (p.Cys347Ser) | dbSNP |
| 5 | g.150129813C>T | CA361714696 | PDGFRB | c.1523G>A (p.Cys508Tyr) c.*837G>A (n.*837G>A) c.1331G>A (p.Cys444Tyr) c.1040G>A (p.Cys347Tyr) | dbSNP COSMIC |
| 5 | g.150129814A>C | CA361714700 | PDGFRB | c.1522T>G (p.Cys508Gly) c.*836T>G (n.*836T>G) c.1330T>G (p.Cys444Gly) c.1039T>G (p.Cys347Gly) | |
| 5 | g.150129814A>G | CA361714703 | PDGFRB | c.1522T>C (p.Cys508Arg) c.*836T>C (n.*836T>C) c.1330T>C (p.Cys444Arg) c.1039T>C (p.Cys347Arg) | |
| 5 | g.150129814A>T | CA361714702 | PDGFRB | c.1522T>A (p.Cys508Ser) c.*836T>A (n.*836T>A) c.1330T>A (p.Cys444Ser) c.1039T>A (p.Cys347Ser) | |
| 5 | g.150129815G>A | CA447144763 | PDGFRB | c.1521C>T (p.Arg507=) c.*835C>T (n.*835C>T) c.1329C>T (p.Arg443=) c.1038C>T (p.Arg346=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150129815G>C | CA447144764 | PDGFRB | c.1521C>G (p.Arg507=) c.*835C>G (n.*835C>G) c.1329C>G (p.Arg443=) c.1038C>G (p.Arg346=) | |
| 5 | g.150129815G= | CA1590805631 | PDGFRB | c.1521C= (p.Arg507=) c.*835C= (n.*835C=) c.1329C= (p.Arg443=) c.1038C= (p.Arg346=) | |
| 5 | g.150129815G>T | CA447144765 | PDGFRB | c.1521C>A (p.Arg507=) c.*835C>A (n.*835C>A) c.1329C>A (p.Arg443=) c.1038C>A (p.Arg346=) | |
| 5 | g.150129816C>A | CA361714706 | PDGFRB | c.1520G>T (p.Arg507Leu) c.*834G>T (n.*834G>T) c.1328G>T (p.Arg443Leu) c.1037G>T (p.Arg346Leu) | |
| 5 | g.150129816C= | CA1590805632 | PDGFRB | c.1520G= (p.Arg507=) c.*834G= (n.*834G=) c.1328G= (p.Arg443=) c.1037G= (p.Arg346=) | |
| 5 | g.150129816C>G | CA361714712 | PDGFRB | c.1520G>C (p.Arg507Pro) c.*834G>C (n.*834G>C) c.1328G>C (p.Arg443Pro) c.1037G>C (p.Arg346Pro) | |
| 5 | g.150129816C>T | CA3507953 | PDGFRB | c.1520G>A (p.Arg507His) c.*834G>A (n.*834G>A) c.1328G>A (p.Arg443His) c.1037G>A (p.Arg346His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129817G>A | CA3507954 | PDGFRB | c.1519C>T (p.Arg507Cys) c.*833C>T (n.*833C>T) c.1327C>T (p.Arg443Cys) c.1036C>T (p.Arg346Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129817G>C | CA361714716 | PDGFRB | c.1519C>G (p.Arg507Gly) c.*833C>G (n.*833C>G) c.1327C>G (p.Arg443Gly) c.1036C>G (p.Arg346Gly) | |
| 5 | g.150129817G= | CA1590805633 | PDGFRB | c.1519C= (p.Arg507=) c.*833C= (n.*833C=) c.1327C= (p.Arg443=) c.1036C= (p.Arg346=) | |
| 5 | g.150129817G>T | CA361714714 | PDGFRB | c.1519C>A (p.Arg507Ser) c.*833C>A (n.*833C>A) c.1327C>A (p.Arg443Ser) c.1036C>A (p.Arg346Ser) | |
| 5 | g.150129827_150129828insAGCACCGACAGT | CA1139659147 | PDGFRB | c.1519_1520insTACTGTCGGTGC (p.Val506_Arg507insLeuLeuSerVal) c.*833_*834insTACTGTCGGTGC (n.*833_*834insTACTGTCGGTGC) c.1327_1328insTACTGTCGGTGC (p.Val442_Arg443insLeuLeuSerVal) c.1036_1037insTACTGTCGGTGC (p.Val345_Arg346insLeuLeuSerVal) | ClinVar dbSNP |
| 5 | g.150129818C>A | CA447144766 | PDGFRB | c.1518G>T (p.Val506=) c.*832G>T (n.*832G>T) c.1326G>T (p.Val442=) c.1035G>T (p.Val345=) | |
| 5 | g.150129818C= | CA1590805634 | PDGFRB | c.1518G= (p.Val506=) c.*832G= (n.*832G=) c.1326G= (p.Val442=) c.1035G= (p.Val345=) | |
| 5 | g.150129818C>G | CA447144767 | PDGFRB | c.1518G>C (p.Val506=) c.*832G>C (n.*832G>C) c.1326G>C (p.Val442=) c.1035G>C (p.Val345=) | |
| 5 | g.150129818C>T | CA447144768 | PDGFRB | c.1518G>A (p.Val506=) c.*832G>A (n.*832G>A) c.1326G>A (p.Val442=) c.1035G>A (p.Val345=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.150129819A= | CA1590805635 | PDGFRB | c.1517T= (p.Val506=) c.*831T= (n.*831T=) c.1325T= (p.Val442=) c.1034T= (p.Val345=) | |
| 5 | g.150129819A>C | CA129065441 | PDGFRB | c.1517T>G (p.Val506Gly) c.*831T>G (n.*831T>G) c.1325T>G (p.Val442Gly) c.1034T>G (p.Val345Gly) | dbSNP |
| 5 | g.150129819A>G | CA3507955 | PDGFRB | c.1517T>C (p.Val506Ala) c.*831T>C (n.*831T>C) c.1325T>C (p.Val442Ala) c.1034T>C (p.Val345Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129819A>T | CA3507956 | PDGFRB | c.1517T>A (p.Val506Glu) c.*831T>A (n.*831T>A) c.1325T>A (p.Val442Glu) c.1034T>A (p.Val345Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129820C>A | CA361714720 | PDGFRB | c.1516G>T (p.Val506Leu) c.*830G>T (n.*830G>T) c.1324G>T (p.Val442Leu) c.1033G>T (p.Val345Leu) | |
| 5 | g.150129820C>G | CA361714722 | PDGFRB | c.1516G>C (p.Val506Leu) c.*830G>C (n.*830G>C) c.1324G>C (p.Val442Leu) c.1033G>C (p.Val345Leu) | |
| 5 | g.150129820C>T | CA361714724 | PDGFRB | c.1516G>A (p.Val506Met) c.*830G>A (n.*830G>A) c.1324G>A (p.Val442Met) c.1033G>A (p.Val345Met) | dbSNP |
| 5 | g.150129821del | CA2675963622 | PDGFRB | c.1516del (p.Val506CysfsTer29) c.*830del (n.*830del) c.1324del (p.Val442CysfsTer29) c.1033del (p.Val345CysfsTer29) | gnomAD v4 |
| 5 | g.150129821C>A | CA447144769 | PDGFRB | c.1515G>T (p.Ser505=) c.*829G>T (n.*829G>T) c.1323G>T (p.Ser441=) c.1032G>T (p.Ser344=) | gnomAD v4 |
| 5 | g.150129821C= | CA1590805636 | PDGFRB | c.1515G= (p.Ser505=) c.*829G= (n.*829G=) c.1323G= (p.Ser441=) c.1032G= (p.Ser344=) | |
| 5 | g.150129821C>G | CA447144770 | PDGFRB | c.1515G>C (p.Ser505=) c.*829G>C (n.*829G>C) c.1323G>C (p.Ser441=) c.1032G>C (p.Ser344=) | |
| 5 | g.150129821C>T | CA3507957 | PDGFRB | c.1515G>A (p.Ser505=) c.*829G>A (n.*829G>A) c.1323G>A (p.Ser441=) c.1032G>A (p.Ser344=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129822G>A | CA3507958 | PDGFRB | c.1514C>T (p.Ser505Leu) c.*828C>T (n.*828C>T) c.1322C>T (p.Ser441Leu) c.1031C>T (p.Ser344Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129822G>C | CA361714729 | PDGFRB | c.1514C>G (p.Ser505Trp) c.*828C>G (n.*828C>G) c.1322C>G (p.Ser441Trp) c.1031C>G (p.Ser344Trp) | dbSNP |
| 5 | g.150129822G= | CA1590805637 | PDGFRB | c.1514C= (p.Ser505=) c.*828C= (n.*828C=) c.1322C= (p.Ser441=) c.1031C= (p.Ser344=) | |
| 5 | g.150129822G>T | CA361714727 | PDGFRB | c.1514C>A (p.Ser505Ter) c.*828C>A (n.*828C>A) c.1322C>A (p.Ser441Ter) c.1031C>A (p.Ser344Ter) | |
| 5 | g.150129823A>C | CA361714737 | PDGFRB | c.1513T>G (p.Ser505Ala) c.*827T>G (n.*827T>G) c.1321T>G (p.Ser441Ala) c.1030T>G (p.Ser344Ala) | |
| 5 | g.150129823A>G | CA361714739 | PDGFRB | c.1513T>C (p.Ser505Pro) c.*827T>C (n.*827T>C) c.1321T>C (p.Ser441Pro) c.1030T>C (p.Ser344Pro) | |
| 5 | g.150129823A>T | CA361714741 | PDGFRB | c.1513T>A (p.Ser505Thr) c.*827T>A (n.*827T>A) c.1321T>A (p.Ser441Thr) c.1030T>A (p.Ser344Thr) | |
| 5 | g.150129824C>A | CA447144771 | PDGFRB | c.1512G>T (p.Leu504=) c.*826G>T (n.*826G>T) c.1320G>T (p.Leu440=) c.1029G>T (p.Leu343=) | |
| 5 | g.150129824C= | CA1590805638 | PDGFRB | c.1512G= (p.Leu504=) c.*826G= (n.*826G=) c.1320G= (p.Leu440=) c.1029G= (p.Leu343=) | |
| 5 | g.150129824C>G | CA447144772 | PDGFRB | c.1512G>C (p.Leu504=) c.*826G>C (n.*826G>C) c.1320G>C (p.Leu440=) c.1029G>C (p.Leu343=) | |
| 5 | g.150129824C>T | CA3507959 | PDGFRB | c.1512G>A (p.Leu504=) c.*826G>A (n.*826G>A) c.1320G>A (p.Leu440=) c.1029G>A (p.Leu343=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129825A>C | CA361714746 | PDGFRB | c.1511T>G (p.Leu504Arg) c.*825T>G (n.*825T>G) c.1319T>G (p.Leu440Arg) c.1028T>G (p.Leu343Arg) | |
| 5 | g.150129825A>G | CA361714743 | PDGFRB | c.1511T>C (p.Leu504Pro) c.*825T>C (n.*825T>C) c.1319T>C (p.Leu440Pro) c.1028T>C (p.Leu343Pro) | |
| 5 | g.150129825A>T | CA361714745 | PDGFRB | c.1511T>A (p.Leu504Gln) c.*825T>A (n.*825T>A) c.1319T>A (p.Leu440Gln) c.1028T>A (p.Leu343Gln) | |
| 5 | g.150129826G>A | CA447144773 | PDGFRB | c.1510C>T (p.Leu504=) c.*824C>T (n.*824C>T) c.1318C>T (p.Leu440=) c.1027C>T (p.Leu343=) | gnomAD v4 |
| 5 | g.150129826G>C | CA361714747 | PDGFRB | c.1510C>G (p.Leu504Val) c.*824C>G (n.*824C>G) c.1318C>G (p.Leu440Val) c.1027C>G (p.Leu343Val) | dbSNP |
| 5 | g.150129826G>T | CA361714749 | PDGFRB | c.1510C>A (p.Leu504Met) c.*824C>A (n.*824C>A) c.1318C>A (p.Leu440Met) c.1027C>A (p.Leu343Met) | |
| 5 | g.150129827T>A | CA447144774 | PDGFRB | c.1509A>T (p.Pro503=) c.*823A>T (n.*823A>T) c.1317A>T (p.Pro439=) c.1026A>T (p.Pro342=) | dbSNP |
| 5 | g.150129827T>C | CA3507960 | PDGFRB | c.1509A>G (p.Pro503=) c.*823A>G (n.*823A>G) c.1317A>G (p.Pro439=) c.1026A>G (p.Pro342=) | dbSNP ExAC gnomAD v2 |
| 5 | g.150129827T>G | CA447144775 | PDGFRB | c.1509A>C (p.Pro503=) c.*823A>C (n.*823A>C) c.1317A>C (p.Pro439=) c.1026A>C (p.Pro342=) | |
| 5 | g.150129827T= | CA1590805639 | PDGFRB | c.1509A= (p.Pro503=) c.*823A= (n.*823A=) c.1317A= (p.Pro439=) c.1026A= (p.Pro342=) | |
| 5 | g.150129828G>A | CA361714753 | PDGFRB | c.1508C>T (p.Pro503Leu) c.*822C>T (n.*822C>T) c.1316C>T (p.Pro439Leu) c.1025C>T (p.Pro342Leu) | |
| 5 | g.150129828G>C | CA361714755 | PDGFRB | c.1508C>G (p.Pro503Arg) c.*822C>G (n.*822C>G) c.1316C>G (p.Pro439Arg) c.1025C>G (p.Pro342Arg) | |
| 5 | g.150129828G>T | CA361714757 | PDGFRB | c.1508C>A (p.Pro503Gln) c.*822C>A (n.*822C>A) c.1316C>A (p.Pro439Gln) c.1025C>A (p.Pro342Gln) | |
| 5 | g.150129829G>A | CA361714759 | PDGFRB | c.1507C>T (p.Pro503Ser) c.*821C>T (n.*821C>T) c.1315C>T (p.Pro439Ser) c.1024C>T (p.Pro342Ser) | dbSNP |
| 5 | g.150129829G>C | CA361714767 | PDGFRB | c.1507C>G (p.Pro503Ala) c.*821C>G (n.*821C>G) c.1315C>G (p.Pro439Ala) c.1024C>G (p.Pro342Ala) | dbSNP |
| 5 | g.150129829G>T | CA361714769 | PDGFRB | c.1507C>A (p.Pro503Thr) c.*821C>A (n.*821C>A) c.1315C>A (p.Pro439Thr) c.1024C>A (p.Pro342Thr) | gnomAD v4 |
| 5 | g.150129830C>A | CA447144776 | PDGFRB | c.1506G>T (p.Arg502=) c.*820G>T (n.*820G>T) c.1314G>T (p.Arg438=) c.1023G>T (p.Arg341=) | |
| 5 | g.150129830C>G | CA447144777 | PDGFRB | c.1506G>C (p.Arg502=) c.*820G>C (n.*820G>C) c.1314G>C (p.Arg438=) c.1023G>C (p.Arg341=) | |
| 5 | g.150129830C>T | CA447144778 | PDGFRB | c.1506G>A (p.Arg502=) c.*820G>A (n.*820G>A) c.1314G>A (p.Arg438=) c.1023G>A (p.Arg341=) | dbSNP gnomAD v4 |
| 5 | g.150129831C>A | CA361714771 | PDGFRB | c.1505G>T (p.Arg502Leu) c.*819G>T (n.*819G>T) c.1313G>T (p.Arg438Leu) c.1022G>T (p.Arg341Leu) | dbSNP |
| 5 | g.150129831C= | CA1590805640 | PDGFRB | c.1505G= (p.Arg502=) c.*819G= (n.*819G=) c.1313G= (p.Arg438=) c.1022G= (p.Arg341=) | |
| 5 | g.150129831C>G | CA361714773 | PDGFRB | c.1505G>C (p.Arg502Pro) c.*819G>C (n.*819G>C) c.1313G>C (p.Arg438Pro) c.1022G>C (p.Arg341Pro) | |
| 5 | g.150129831C>T | CA3507961 | PDGFRB | c.1505G>A (p.Arg502Gln) c.*819G>A (n.*819G>A) c.1313G>A (p.Arg438Gln) c.1022G>A (p.Arg341Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129832G>A | CA3507962 | PDGFRB | c.1504C>T (p.Arg502Trp) c.*818C>T (n.*818C>T) c.1312C>T (p.Arg438Trp) c.1021C>T (p.Arg341Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129832G>C | CA361714778 | PDGFRB | c.1504C>G (p.Arg502Gly) c.*818C>G (n.*818C>G) c.1312C>G (p.Arg438Gly) c.1021C>G (p.Arg341Gly) | |
| 5 | g.150129832G= | CA1590805641 | PDGFRB | c.1504C= (p.Arg502=) c.*818C= (n.*818C=) c.1312C= (p.Arg438=) c.1021C= (p.Arg341=) | |
| 5 | g.150129832G>T | CA3507963 | PDGFRB | c.1504C>A (p.Arg502=) c.*818C>A (n.*818C>A) c.1312C>A (p.Arg438=) c.1021C>A (p.Arg341=) | dbSNP ExAC gnomAD v4 |
| 5 | g.150129833A>C | CA361714780 | PDGFRB | c.1503T>G (p.Asp501Glu) c.*817T>G (n.*817T>G) c.1311T>G (p.Asp437Glu) c.1020T>G (p.Asp340Glu) | |
| 5 | g.150129833A>G | CA447144779 | PDGFRB | c.1503T>C (p.Asp501=) c.*817T>C (n.*817T>C) c.1311T>C (p.Asp437=) c.1020T>C (p.Asp340=) | |
| 5 | g.150129833A>T | CA361714782 | PDGFRB | c.1503T>A (p.Asp501Glu) c.*817T>A (n.*817T>A) c.1311T>A (p.Asp437Glu) c.1020T>A (p.Asp340Glu) | dbSNP |
| 5 | g.150129834T>A | CA361714784 | PDGFRB | c.1502A>T (p.Asp501Val) c.*816A>T (n.*816A>T) c.1310A>T (p.Asp437Val) c.1019A>T (p.Asp340Val) | |
| 5 | g.150129834T>C | CA361714786 | PDGFRB | c.1502A>G (p.Asp501Gly) c.*816A>G (n.*816A>G) c.1310A>G (p.Asp437Gly) c.1019A>G (p.Asp340Gly) | |
| 5 | g.150129834T>G | CA361714788 | PDGFRB | c.1502A>C (p.Asp501Ala) c.*816A>C (n.*816A>C) c.1310A>C (p.Asp437Ala) c.1019A>C (p.Asp340Ala) | |
| 5 | g.150129835C>A | CA361714790 | PDGFRB | c.1501G>T (p.Asp501Tyr) c.*815G>T (n.*815G>T) c.1309G>T (p.Asp437Tyr) c.1018G>T (p.Asp340Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.150129835C= | CA1590805642 | PDGFRB | c.1501G= (p.Asp501=) c.*815G= (n.*815G=) c.1309G= (p.Asp437=) c.1018G= (p.Asp340=) | |
| 5 | g.150129835C>G | CA361714792 | PDGFRB | c.1501G>C (p.Asp501His) c.*815G>C (n.*815G>C) c.1309G>C (p.Asp437His) c.1018G>C (p.Asp340His) | |
| 5 | g.150129835C>T | CA361714794 | PDGFRB | c.1501G>A (p.Asp501Asn) c.*815G>A (n.*815G>A) c.1309G>A (p.Asp437Asn) c.1018G>A (p.Asp340Asn) | |
| 5 | g.150129836C>A | CA447144780 | PDGFRB | c.1500G>T (p.Val500=) c.*814G>T (n.*814G>T) c.1308G>T (p.Val436=) c.1017G>T (p.Val339=) | |
| 5 | g.150129836C>G | CA447144781 | PDGFRB | c.1500G>C (p.Val500=) c.*814G>C (n.*814G>C) c.1308G>C (p.Val436=) c.1017G>C (p.Val339=) | |
| 5 | g.150129836C>T | CA447144782 | PDGFRB | c.1500G>A (p.Val500=) c.*814G>A (n.*814G>A) c.1308G>A (p.Val436=) c.1017G>A (p.Val339=) | dbSNP |
| 5 | g.150129837A= | CA1590805643 | PDGFRB | c.1499T= (p.Val500=) c.*813T= (n.*813T=) c.1307T= (p.Val436=) c.1016T= (p.Val339=) | |
| 5 | g.150129837A>C | CA129065522 | PDGFRB | c.1499T>G (p.Val500Gly) c.*813T>G (n.*813T>G) c.1307T>G (p.Val436Gly) c.1016T>G (p.Val339Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.150129837A>G | CA361714796 | PDGFRB | c.1499T>C (p.Val500Ala) c.*813T>C (n.*813T>C) c.1307T>C (p.Val436Ala) c.1016T>C (p.Val339Ala) | |
| 5 | g.150129837A>T | CA361714798 | PDGFRB | c.1499T>A (p.Val500Glu) c.*813T>A (n.*813T>A) c.1307T>A (p.Val436Glu) c.1016T>A (p.Val339Glu) | dbSNP |
| 5 | g.150129838C>A | CA361714803 | PDGFRB | c.1498G>T (p.Val500Leu) c.*812G>T (n.*812G>T) c.1306G>T (p.Val436Leu) c.1015G>T (p.Val339Leu) | |
| 5 | g.150129838C= | CA1590805644 | PDGFRB | c.1498G= (p.Val500=) c.*812G= (n.*812G=) c.1306G= (p.Val436=) c.1015G= (p.Val339=) | |
| 5 | g.150129838C>G | CA361714801 | PDGFRB | c.1498G>C (p.Val500Leu) c.*812G>C (n.*812G>C) c.1306G>C (p.Val436Leu) c.1015G>C (p.Val339Leu) | gnomAD v4 |
| 5 | g.150129838C>T | CA3507964 | PDGFRB | c.1498G>A (p.Val500Met) c.*812G>A (n.*812G>A) c.1306G>A (p.Val436Met) c.1015G>A (p.Val339Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.150129839G>A | CA3507965 | PDGFRB | c.1497C>T (p.His499=) c.*811C>T (n.*811C>T) c.1305C>T (p.His435=) c.1014C>T (p.His338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129839G>C | CA361714806 | PDGFRB | c.1497C>G (p.His499Gln) c.*811C>G (n.*811C>G) c.1305C>G (p.His435Gln) c.1014C>G (p.His338Gln) | gnomAD v4 |
| 5 | g.150129839G= | CA1590805645 | PDGFRB | c.1497C= (p.His499=) c.*811C= (n.*811C=) c.1305C= (p.His435=) c.1014C= (p.His338=) | |
| 5 | g.150129839G>T | CA361714807 | PDGFRB | c.1497C>A (p.His499Gln) c.*811C>A (n.*811C>A) c.1305C>A (p.His435Gln) c.1014C>A (p.His338Gln) | gnomAD v4 |
| 5 | g.150129840T>A | CA361714810 | PDGFRB | c.1496A>T (p.His499Leu) c.*810A>T (n.*810A>T) c.1304A>T (p.His435Leu) c.1013A>T (p.His338Leu) | |
| 5 | g.150129840T>C | CA361714812 | PDGFRB | c.1496A>G (p.His499Arg) c.*810A>G (n.*810A>G) c.1304A>G (p.His435Arg) c.1013A>G (p.His338Arg) | |
| 5 | g.150129840T>G | CA361714813 | PDGFRB | c.1496A>C (p.His499Pro) c.*810A>C (n.*810A>C) c.1304A>C (p.His435Pro) c.1013A>C (p.His338Pro) | |
| 5 | g.150129841G>A | CA361714816 | PDGFRB | c.1495C>T (p.His499Tyr) c.*809C>T (n.*809C>T) c.1303C>T (p.His435Tyr) c.1012C>T (p.His338Tyr) | dbSNP gnomAD v4 |
| 5 | g.150129841G>C | CA361714818 | PDGFRB | c.1495C>G (p.His499Asp) c.*809C>G (n.*809C>G) c.1303C>G (p.His435Asp) c.1012C>G (p.His338Asp) | |
| 5 | g.150129841G>T | CA361714820 | PDGFRB | c.1495C>A (p.His499Asn) c.*809C>A (n.*809C>A) c.1303C>A (p.His435Asn) c.1012C>A (p.His338Asn) | |
| 5 | g.150129842C>A | CA361714822 | PDGFRB | c.1494G>T (p.Gln498His) c.*808G>T (n.*808G>T) c.1302G>T (p.Gln434His) c.1011G>T (p.Gln337His) | |
| 5 | g.150129842C= | CA1590805646 | PDGFRB | c.1494G= (p.Gln498=) c.*808G= (n.*808G=) c.1302G= (p.Gln434=) c.1011G= (p.Gln337=) | |
| 5 | g.150129842C>G | CA361714824 | PDGFRB | c.1494G>C (p.Gln498His) c.*808G>C (n.*808G>C) c.1302G>C (p.Gln434His) c.1011G>C (p.Gln337His) | |
| 5 | g.150129842C>T | CA447144784 | PDGFRB | c.1494G>A (p.Gln498=) c.*808G>A (n.*808G>A) c.1302G>A (p.Gln434=) c.1011G>A (p.Gln337=) | ClinVar dbSNP |
| 5 | g.150129843T>A | CA361714830 | PDGFRB | c.1493A>T (p.Gln498Leu) c.*807A>T (n.*807A>T) c.1301A>T (p.Gln434Leu) c.1010A>T (p.Gln337Leu) | |
| 5 | g.150129843T>C | CA361714828 | PDGFRB | c.1493A>G (p.Gln498Arg) c.*807A>G (n.*807A>G) c.1301A>G (p.Gln434Arg) c.1010A>G (p.Gln337Arg) | |
| 5 | g.150129843T>G | CA361714826 | PDGFRB | c.1493A>C (p.Gln498Pro) c.*807A>C (n.*807A>C) c.1301A>C (p.Gln434Pro) c.1010A>C (p.Gln337Pro) | |
| 5 | g.150129844G>A | CA3507966 | PDGFRB | c.1492C>T (p.Gln498Ter) c.*806C>T (n.*806C>T) c.1300C>T (p.Gln434Ter) c.1009C>T (p.Gln337Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129844G>C | CA361714831 | PDGFRB | c.1492C>G (p.Gln498Glu) c.*806C>G (n.*806C>G) c.1300C>G (p.Gln434Glu) c.1009C>G (p.Gln337Glu) | |
| 5 | g.150129844G= | CA1590805647 | PDGFRB | c.1492C= (p.Gln498=) c.*806C= (n.*806C=) c.1300C= (p.Gln434=) c.1009C= (p.Gln337=) | |
| 5 | g.150129844G>T | CA361714832 | PDGFRB | c.1492C>A (p.Gln498Lys) c.*806C>A (n.*806C>A) c.1300C>A (p.Gln434Lys) c.1009C>A (p.Gln337Lys) | |
| 5 | g.150129845C>A | CA447144785 | PDGFRB | c.1491G>T (p.Leu497=) c.*805G>T (n.*805G>T) c.1299G>T (p.Leu433=) c.1008G>T (p.Leu336=) | |
| 5 | g.150129845C>G | CA447144786 | PDGFRB | c.1491G>C (p.Leu497=) c.*805G>C (n.*805G>C) c.1299G>C (p.Leu433=) c.1008G>C (p.Leu336=) | |
| 5 | g.150129845C>T | CA447144787 | PDGFRB | c.1491G>A (p.Leu497=) c.*805G>A (n.*805G>A) c.1299G>A (p.Leu433=) c.1008G>A (p.Leu336=) | dbSNP |
| 5 | g.150129846A>C | CA361714833 | PDGFRB | c.1490T>G (p.Leu497Arg) c.*804T>G (n.*804T>G) c.1298T>G (p.Leu433Arg) c.1007T>G (p.Leu336Arg) | |
| 5 | g.150129846A>G | CA361714834 | PDGFRB | c.1490T>C (p.Leu497Pro) c.*804T>C (n.*804T>C) c.1298T>C (p.Leu433Pro) c.1007T>C (p.Leu336Pro) | |
| 5 | g.150129846A>T | CA361714835 | PDGFRB | c.1490T>A (p.Leu497Gln) c.*804T>A (n.*804T>A) c.1298T>A (p.Leu433Gln) c.1007T>A (p.Leu336Gln) | |
| 5 | g.150129847G>A | CA447144788 | PDGFRB | c.1489C>T (p.Leu497=) c.*803C>T (n.*803C>T) c.1297C>T (p.Leu433=) c.1006C>T (p.Leu336=) | dbSNP |
| 5 | g.150129847G>C | CA361714837 | PDGFRB | c.1489C>G (p.Leu497Val) c.*803C>G (n.*803C>G) c.1297C>G (p.Leu433Val) c.1006C>G (p.Leu336Val) | dbSNP |
| 5 | g.150129847G= | CA1590805648 | PDGFRB | c.1489C= (p.Leu497=) c.*803C= (n.*803C=) c.1297C= (p.Leu433=) c.1006C= (p.Leu336=) | |
| 5 | g.150129847G>T | CA361714836 | PDGFRB | c.1489C>A (p.Leu497Met) c.*803C>A (n.*803C>A) c.1297C>A (p.Leu433Met) c.1006C>A (p.Leu336Met) | |
| 5 | g.150129848A= | CA1590805649 | PDGFRB | c.1488T= (p.Arg496=) c.*802T= (n.*802T=) c.1296T= (p.Arg432=) c.1005T= (p.Arg335=) | |
| 5 | g.150129848A>C | CA447144789 | PDGFRB | c.1488T>G (p.Arg496=) c.*802T>G (n.*802T>G) c.1296T>G (p.Arg432=) c.1005T>G (p.Arg335=) | |
| 5 | g.150129848A>G | CA129065540 | PDGFRB | c.1488T>C (p.Arg496=) c.*802T>C (n.*802T>C) c.1296T>C (p.Arg432=) c.1005T>C (p.Arg335=) | dbSNP |
| 5 | g.150129848A>T | CA447144790 | PDGFRB | c.1488T>A (p.Arg496=) c.*802T>A (n.*802T>A) c.1296T>A (p.Arg432=) c.1005T>A (p.Arg335=) | gnomAD v4 |
| 5 | g.150129849C>A | CA361714838 | PDGFRB | c.1487G>T (p.Arg496Leu) c.*801G>T (n.*801G>T) c.1295G>T (p.Arg432Leu) c.1004G>T (p.Arg335Leu) | |
| 5 | g.150129849C= | CA1590805650 | PDGFRB | c.1487G= (p.Arg496=) c.*801G= (n.*801G=) c.1295G= (p.Arg432=) c.1004G= (p.Arg335=) | |
| 5 | g.150129849C>G | CA361714839 | PDGFRB | c.1487G>C (p.Arg496Pro) c.*801G>C (n.*801G>C) c.1295G>C (p.Arg432Pro) c.1004G>C (p.Arg335Pro) | |
| 5 | g.150129849C>T | CA3507967 | PDGFRB | c.1487G>A (p.Arg496His) c.*801G>A (n.*801G>A) c.1295G>A (p.Arg432His) c.1004G>A (p.Arg335His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129850G>A | CA361714840 | PDGFRB | c.1486C>T (p.Arg496Cys) c.*800C>T (n.*800C>T) c.1294C>T (p.Arg432Cys) c.1003C>T (p.Arg335Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.150129850G>C | CA361714841 | PDGFRB | c.1486C>G (p.Arg496Gly) c.*800C>G (n.*800C>G) c.1294C>G (p.Arg432Gly) c.1003C>G (p.Arg335Gly) | |
| 5 | g.150129850G= | CA1590805651 | PDGFRB | c.1486C= (p.Arg496=) c.*800C= (n.*800C=) c.1294C= (p.Arg432=) c.1003C= (p.Arg335=) | |
| 5 | g.150129850G>T | CA361714842 | PDGFRB | c.1486C>A (p.Arg496Ser) c.*800C>A (n.*800C>A) c.1294C>A (p.Arg432Ser) c.1003C>A (p.Arg335Ser) | dbSNP |
| 5 | g.150129851C>A | CA447144793 | PDGFRB | c.1485G>T (p.Leu495=) c.*799G>T (n.*799G>T) c.1293G>T (p.Leu431=) c.1002G>T (p.Leu334=) | |
| 5 | g.150129851C>G | CA447144794 | PDGFRB | c.1485G>C (p.Leu495=) c.*799G>C (n.*799G>C) c.1293G>C (p.Leu431=) c.1002G>C (p.Leu334=) | |
| 5 | g.150129851C>T | CA447144795 | PDGFRB | c.1485G>A (p.Leu495=) c.*799G>A (n.*799G>A) c.1293G>A (p.Leu431=) c.1002G>A (p.Leu334=) | |
| 5 | g.150129852A>C | CA361714845 | PDGFRB | c.1484T>G (p.Leu495Arg) c.*798T>G (n.*798T>G) c.1292T>G (p.Leu431Arg) c.1001T>G (p.Leu334Arg) | |
| 5 | g.150129852A>G | CA361714843 | PDGFRB | c.1484T>C (p.Leu495Pro) c.*798T>C (n.*798T>C) c.1292T>C (p.Leu431Pro) c.1001T>C (p.Leu334Pro) | |
| 5 | g.150129852A>T | CA361714844 | PDGFRB | c.1484T>A (p.Leu495Gln) c.*798T>A (n.*798T>A) c.1292T>A (p.Leu431Gln) c.1001T>A (p.Leu334Gln) | |
| 5 | g.150129853G>A | CA3507968 | PDGFRB | c.1483C>T (p.Leu495=) c.*797C>T (n.*797C>T) c.1291C>T (p.Leu431=) c.1000C>T (p.Leu334=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129853G>C | CA361714846 | PDGFRB | c.1483C>G (p.Leu495Val) c.*797C>G (n.*797C>G) c.1291C>G (p.Leu431Val) c.1000C>G (p.Leu334Val) | |
| 5 | g.150129853G= | CA1590805652 | PDGFRB | c.1483C= (p.Leu495=) c.*797C= (n.*797C=) c.1291C= (p.Leu431=) c.1000C= (p.Leu334=) | |
| 5 | g.150129853G>T | CA361714847 | PDGFRB | c.1483C>A (p.Leu495Met) c.*797C>A (n.*797C>A) c.1291C>A (p.Leu431Met) c.1000C>A (p.Leu334Met) | |
| 5 | g.150129854T>A | CA447144801 | PDGFRB | c.1482A>T (p.Thr494=) c.*796A>T (n.*796A>T) c.1290A>T (p.Thr430=) c.999A>T (p.Thr333=) | |
| 5 | g.150129854T>C | CA3507969 | PDGFRB | c.1482A>G (p.Thr494=) c.*796A>G (n.*796A>G) c.1290A>G (p.Thr430=) c.999A>G (p.Thr333=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.150129854T>G | CA447144800 | PDGFRB | c.1482A>C (p.Thr494=) c.*796A>C (n.*796A>C) c.1290A>C (p.Thr430=) c.999A>C (p.Thr333=) | |
| 5 | g.150129854T= | CA1590805653 | PDGFRB | c.1482A= (p.Thr494=) c.*796A= (n.*796A=) c.1290A= (p.Thr430=) c.999A= (p.Thr333=) | |
| 5 | g.150129855G>A | CA361714848 | PDGFRB | c.1481C>T (p.Thr494Ile) c.*795C>T (n.*795C>T) c.1289C>T (p.Thr430Ile) c.998C>T (p.Thr333Ile) | |
| 5 | g.150129855G>C | CA361714849 | PDGFRB | c.1481C>G (p.Thr494Arg) c.*795C>G (n.*795C>G) c.1289C>G (p.Thr430Arg) c.998C>G (p.Thr333Arg) | |
| 5 | g.150129855G>T | CA361714850 | PDGFRB | c.1481C>A (p.Thr494Lys) c.*795C>A (n.*795C>A) c.1289C>A (p.Thr430Lys) c.998C>A (p.Thr333Lys) | |
| 5 | g.150129856T>A | CA361714851 | PDGFRB | c.1480A>T (p.Thr494Ser) c.*794A>T (n.*794A>T) c.1288A>T (p.Thr430Ser) c.997A>T (p.Thr333Ser) | |
| 5 | g.150129856T>C | CA361714852 | PDGFRB | c.1480A>G (p.Thr494Ala) c.*794A>G (n.*794A>G) c.1288A>G (p.Thr430Ala) c.997A>G (p.Thr333Ala) | COSMIC |
| 5 | g.150129856T>G | CA361714853 | PDGFRB | c.1480A>C (p.Thr494Pro) c.*794A>C (n.*794A>C) c.1288A>C (p.Thr430Pro) c.997A>C (p.Thr333Pro) | |
| 5 | g.150129857G>A | CA447144803 | PDGFRB | c.1479C>T (p.Ser493=) c.*793C>T (n.*793C>T) c.1287C>T (p.Ser429=) c.996C>T (p.Ser332=) | dbSNP |
| 5 | g.150129857G>C | CA361714854 | PDGFRB | c.1479C>G (p.Ser493Arg) c.*793C>G (n.*793C>G) c.1287C>G (p.Ser429Arg) c.996C>G (p.Ser332Arg) | |
| 5 | g.150129857G>T | CA361714855 | PDGFRB | c.1479C>A (p.Ser493Arg) c.*793C>A (n.*793C>A) c.1287C>A (p.Ser429Arg) c.996C>A (p.Ser332Arg) | |
| 5 | g.150129858C>A | CA361714856 | PDGFRB | c.1478G>T (p.Ser493Ile) c.*792G>T (n.*792G>T) c.1286G>T (p.Ser429Ile) c.995G>T (p.Ser332Ile) | COSMIC |
| 5 | g.150129858C>G | CA361714858 | PDGFRB | c.1478G>C (p.Ser493Thr) c.*792G>C (n.*792G>C) c.1286G>C (p.Ser429Thr) c.995G>C (p.Ser332Thr) | dbSNP |
| 5 | g.150129858C>T | CA361714857 | PDGFRB | c.1478G>A (p.Ser493Asn) c.*792G>A (n.*792G>A) c.1286G>A (p.Ser429Asn) c.995G>A (p.Ser332Asn) | dbSNP |
| 5 | g.150129859T>A | CA361714859 | PDGFRB | c.1477A>T (p.Ser493Cys) c.*791A>T (n.*791A>T) c.1285A>T (p.Ser429Cys) c.994A>T (p.Ser332Cys) | |
| 5 | g.150129859T>C | CA361714860 | PDGFRB | c.1477A>G (p.Ser493Gly) c.*791A>G (n.*791A>G) c.1285A>G (p.Ser429Gly) c.994A>G (p.Ser332Gly) | |
| 5 | g.150129859T>G | CA361714861 | PDGFRB | c.1477A>C (p.Ser493Arg) c.*791A>C (n.*791A>C) c.1285A>C (p.Ser429Arg) c.994A>C (p.Ser332Arg) | |
| 5 | g.150129860C>A | CA447144810 | PDGFRB | c.1476G>T (p.Val492=) c.*790G>T (n.*790G>T) c.1284G>T (p.Val428=) c.993G>T (p.Val331=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.150129860C= | CA1590805654 | PDGFRB | c.1476G= (p.Val492=) c.*790G= (n.*790G=) c.1284G= (p.Val428=) c.993G= (p.Val331=) | |
| 5 | g.150129860C>G | CA447144812 | PDGFRB | c.1476G>C (p.Val492=) c.*790G>C (n.*790G>C) c.1284G>C (p.Val428=) c.993G>C (p.Val331=) | |
| 5 | g.150129860C>T | CA447144811 | PDGFRB | c.1476G>A (p.Val492=) c.*790G>A (n.*790G>A) c.1284G>A (p.Val428=) c.993G>A (p.Val331=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.150129861A>C | CA361714862 | PDGFRB | c.1475T>G (p.Val492Gly) c.*789T>G (n.*789T>G) c.1283T>G (p.Val428Gly) c.992T>G (p.Val331Gly) | dbSNP |
| 5 | g.150129861A>G | CA361714863 | PDGFRB | c.1475T>C (p.Val492Ala) c.*789T>C (n.*789T>C) c.1283T>C (p.Val428Ala) c.992T>C (p.Val331Ala) | |
| 5 | g.150129861A>T | CA361714864 | PDGFRB | c.1475T>A (p.Val492Glu) c.*789T>A (n.*789T>A) c.1283T>A (p.Val428Glu) c.992T>A (p.Val331Glu) | |
| 5 | g.150129862C>A | CA361714865 | PDGFRB | c.1474G>T (p.Val492Leu) c.*788G>T (n.*788G>T) c.1282G>T (p.Val428Leu) c.991G>T (p.Val331Leu) | |
| 5 | g.150129862C>G | CA361714866 | PDGFRB | c.1474G>C (p.Val492Leu) c.*788G>C (n.*788G>C) c.1282G>C (p.Val428Leu) c.991G>C (p.Val331Leu) | dbSNP |
| 5 | g.150129862C>T | CA361714867 | PDGFRB | c.1474G>A (p.Val492Met) c.*788G>A (n.*788G>A) c.1282G>A (p.Val428Met) c.991G>A (p.Val331Met) | gnomAD v4 |
| 5 | g.150129863C>A | CA447144816 | PDGFRB | c.1473G>T (p.Val491=) c.*787G>T (n.*787G>T) c.1281G>T (p.Val427=) c.990G>T (p.Val330=) | |
| 5 | g.150129863C= | CA1590805655 | PDGFRB | c.1473G= (p.Val491=) c.*787G= (n.*787G=) c.1281G= (p.Val427=) c.990G= (p.Val330=) | |
| 5 | g.150129863C>G | CA447144818 | PDGFRB | c.1473G>C (p.Val491=) c.*787G>C (n.*787G>C) c.1281G>C (p.Val427=) c.990G>C (p.Val330=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129863C>T | CA129065562 | PDGFRB | c.1473G>A (p.Val491=) c.*787G>A (n.*787G>A) c.1281G>A (p.Val427=) c.990G>A (p.Val330=) | dbSNP gnomAD v4 |
| 5 | g.150129864A= | CA1590805656 | PDGFRB | c.1472T= (p.Val491=) c.*786T= (n.*786T=) c.1280T= (p.Val427=) c.989T= (p.Val330=) | |
| 5 | g.150129864A>C | CA361714868 | PDGFRB | c.1472T>G (p.Val491Gly) c.*786T>G (n.*786T>G) c.1280T>G (p.Val427Gly) c.989T>G (p.Val330Gly) | |
| 5 | g.150129864A>G | CA3507970 | PDGFRB | c.1472T>C (p.Val491Ala) c.*786T>C (n.*786T>C) c.1280T>C (p.Val427Ala) c.989T>C (p.Val330Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.150129864A>T | CA361714869 | PDGFRB | c.1472T>A (p.Val491Glu) c.*786T>A (n.*786T>A) c.1280T>A (p.Val427Glu) c.989T>A (p.Val330Glu) | |
| 5 | g.150129865C>A | CA361714870 | PDGFRB | c.1471G>T (p.Val491Leu) c.*785G>T (n.*785G>T) c.1279G>T (p.Val427Leu) c.988G>T (p.Val330Leu) | |
| 5 | g.150129865C>G | CA361714872 | PDGFRB | c.1471G>C (p.Val491Leu) c.*785G>C (n.*785G>C) c.1279G>C (p.Val427Leu) c.988G>C (p.Val330Leu) | |
| 5 | g.150129865C>T | CA361714871 | PDGFRB | c.1471G>A (p.Val491Met) c.*785G>A (n.*785G>A) c.1279G>A (p.Val427Met) c.988G>A (p.Val330Met) | |
| 5 | g.150129866C>A | CA361714873 | PDGFRB | c.1470G>T (p.Glu490Asp) c.*784G>T (n.*784G>T) c.1278G>T (p.Glu426Asp) c.987G>T (p.Glu329Asp) | |
| 5 | g.150129866C>G | CA361714874 | PDGFRB | c.1470G>C (p.Glu490Asp) c.*784G>C (n.*784G>C) c.1278G>C (p.Glu426Asp) c.987G>C (p.Glu329Asp) | |
| 5 | g.150129866C>T | CA447144821 | PDGFRB | c.1470G>A (p.Glu490=) c.*784G>A (n.*784G>A) c.1278G>A (p.Glu426=) c.987G>A (p.Glu329=) | dbSNP |