| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.230710359A>C | CA424036681 | AGT | c.465T>G (p.Val155=) n.976T>G c.492T>G (p.Val164=) | |
| 1 | g.230710359A>G | CA424036683 | AGT | c.465T>C (p.Val155=) n.976T>C c.492T>C (p.Val164=) | |
| 1 | g.230710359A>T | CA424036684 | AGT | c.465T>A (p.Val155=) n.976T>A c.492T>A (p.Val164=) | |
| 1 | g.230710360A>C | CA345206560 | AGT | c.464T>G (p.Val155Gly) n.975T>G c.491T>G (p.Val164Gly) | |
| 1 | g.230710360A>G | CA345206561 | AGT | c.464T>C (p.Val155Ala) n.975T>C c.491T>C (p.Val164Ala) | |
| 1 | g.230710360A>T | CA345206562 | AGT | c.464T>A (p.Val155Asp) n.975T>A c.491T>A (p.Val164Asp) | |
| 1 | g.230710361C>A | CA345206564 | AGT | c.463G>T (p.Val155Phe) n.974G>T c.490G>T (p.Val164Phe) | |
| 1 | g.230710361C= | CA1226669706 | AGT | c.463G= (p.Val155=) n.974G= c.490G= (p.Val164=) | |
| 1 | g.230710361C>G | CA345206565 | AGT | c.463G>C (p.Val155Leu) n.974G>C c.490G>C (p.Val164Leu) | |
| 1 | g.230710361C>T | CA1448291 | AGT | c.463G>A (p.Val155Ile) n.974G>A c.490G>A (p.Val164Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710362A= | CA1226669707 | AGT | c.462T= (p.Gly154=) n.973T= c.489T= (p.Gly163=) | |
| 1 | g.230710362A>C | CA424036690 | AGT | c.462T>G (p.Gly154=) n.973T>G c.489T>G (p.Gly163=) | dbSNP gnomAD v4 |
| 1 | g.230710362A>G | CA424036691 | AGT | c.462T>C (p.Gly154=) n.973T>C c.489T>C (p.Gly163=) | |
| 1 | g.230710362A>T | CA424036692 | AGT | c.462T>A (p.Gly154=) n.973T>A c.489T>A (p.Gly163=) | |
| 1 | g.230710363C>A | CA345206568 | AGT | c.461G>T (p.Gly154Val) n.972G>T c.488G>T (p.Gly163Val) | |
| 1 | g.230710363C>G | CA345206569 | AGT | c.461G>C (p.Gly154Ala) n.972G>C c.488G>C (p.Gly163Ala) | |
| 1 | g.230710363C>T | CA345206570 | AGT | c.461G>A (p.Gly154Asp) n.972G>A c.488G>A (p.Gly163Asp) | |
| 1 | g.230710364C>A | CA345206572 | AGT | c.460G>T (p.Gly154Cys) n.971G>T c.487G>T (p.Gly163Cys) | |
| 1 | g.230710364C>G | CA345206574 | AGT | c.460G>C (p.Gly154Arg) n.971G>C c.487G>C (p.Gly163Arg) | |
| 1 | g.230710364C>T | CA345206575 | AGT | c.460G>A (p.Gly154Ser) n.971G>A c.487G>A (p.Gly163Ser) | gnomAD v4 |
| 1 | g.230710365C>A | CA424036700 | AGT | c.459G>T (p.Leu153=) n.970G>T c.486G>T (p.Leu162=) | |
| 1 | g.230710365C>G | CA424036702 | AGT | c.459G>C (p.Leu153=) n.970G>C c.486G>C (p.Leu162=) | |
| 1 | g.230710365C>T | CA424036704 | AGT | c.459G>A (p.Leu153=) n.970G>A c.486G>A (p.Leu162=) | |
| 1 | g.230710366A= | CA1226669708 | AGT | c.458T= (p.Leu153=) n.969T= c.485T= (p.Leu162=) | |
| 1 | g.230710366A>C | CA345206579 | AGT | c.458T>G (p.Leu153Arg) n.969T>G c.485T>G (p.Leu162Arg) | |
| 1 | g.230710366A>G | CA345206578 | AGT | c.458T>C (p.Leu153Pro) n.969T>C c.485T>C (p.Leu162Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710366A>T | CA345206577 | AGT | c.458T>A (p.Leu153Gln) n.969T>A c.485T>A (p.Leu162Gln) | |
| 1 | g.230710367G>A | CA424036707 | AGT | c.457C>T (p.Leu153=) n.968C>T c.484C>T (p.Leu162=) | |
| 1 | g.230710367G>C | CA345206581 | AGT | c.457C>G (p.Leu153Val) n.968C>G c.484C>G (p.Leu162Val) | dbSNP |
| 1 | g.230710367G= | CA1226669709 | AGT | c.457C= (p.Leu153=) n.968C= c.484C= (p.Leu162=) | |
| 1 | g.230710367G>T | CA345206583 | AGT | c.457C>A (p.Leu153Met) n.968C>A c.484C>A (p.Leu162Met) | |
| 1 | g.230710368G>A | CA424036711 | AGT | c.456C>T (p.Ile152=) n.967C>T c.483C>T (p.Ile161=) | gnomAD v4 COSMIC |
| 1 | g.230710368G>C | CA345206585 | AGT | c.456C>G (p.Ile152Met) n.967C>G c.483C>G (p.Ile161Met) | |
| 1 | g.230710368G>T | CA424036710 | AGT | c.456C>A (p.Ile152=) n.967C>A c.483C>A (p.Ile161=) | |
| 1 | g.230710369A>C | CA345206586 | AGT | c.455T>G (p.Ile152Ser) n.966T>G c.482T>G (p.Ile161Ser) | |
| 1 | g.230710369A>G | CA345206588 | AGT | c.455T>C (p.Ile152Thr) n.966T>C c.482T>C (p.Ile161Thr) | |
| 1 | g.230710369A>T | CA345206589 | AGT | c.455T>A (p.Ile152Asn) n.966T>A c.482T>A (p.Ile161Asn) | |
| 1 | g.230710369_230710370del | CA2650971414 | AGT | c.454_455del (p.Ile152ProfsTer?) n.965_966del c.481_482del (p.Ile161ProfsTer?) | gnomAD v4 |
| 1 | g.230710370T>A | CA345206591 | AGT | c.454A>T (p.Ile152Phe) n.965A>T c.481A>T (p.Ile161Phe) | |
| 1 | g.230710370T>C | CA1448292 | AGT | c.454A>G (p.Ile152Val) n.965A>G c.481A>G (p.Ile161Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710370T>G | CA345206593 | AGT | c.454A>C (p.Ile152Leu) n.965A>C c.481A>C (p.Ile161Leu) | |
| 1 | g.230710370T= | CA1226669710 | AGT | c.454A= (p.Ile152=) n.965A= c.481A= (p.Ile161=) | |
| 1 | g.230710371T>A | CA424036723 | AGT | c.453A>T (p.Ala151=) n.964A>T c.480A>T (p.Ala160=) | |
| 1 | g.230710371T>C | CA424036716 | AGT | c.453A>G (p.Ala151=) n.964A>G c.480A>G (p.Ala160=) | |
| 1 | g.230710371T>G | CA424036719 | AGT | c.453A>C (p.Ala151=) n.964A>C c.480A>C (p.Ala160=) | |
| 1 | g.230710372G>A | CA345206595 | AGT | c.452C>T (p.Ala151Val) n.963C>T c.479C>T (p.Ala160Val) | |
| 1 | g.230710372G>C | CA345206597 | AGT | c.452C>G (p.Ala151Gly) n.963C>G c.479C>G (p.Ala160Gly) | |
| 1 | g.230710372G>T | CA345206598 | AGT | c.452C>A (p.Ala151Glu) n.963C>A c.479C>A (p.Ala160Glu) | |
| 1 | g.230710373C>A | CA345206603 | AGT | c.451G>T (p.Ala151Ser) n.962G>T c.478G>T (p.Ala160Ser) | |
| 1 | g.230710373C>G | CA345206601 | AGT | c.451G>C (p.Ala151Pro) n.962G>C c.478G>C (p.Ala160Pro) | |
| 1 | g.230710373C>T | CA345206600 | AGT | c.451G>A (p.Ala151Thr) n.962G>A c.478G>A (p.Ala160Thr) | COSMIC |
| 1 | g.230710374C>A | CA345206604 | AGT | c.450G>T (p.Gln150His) n.961G>T c.477G>T (p.Gln159His) | |
| 1 | g.230710374C= | CA1226669711 | AGT | c.450G= (p.Gln150=) n.961G= c.477G= (p.Gln159=) | |
| 1 | g.230710374C>G | CA345206605 | AGT | c.450G>C (p.Gln150His) n.961G>C c.477G>C (p.Gln159His) | |
| 1 | g.230710374C>T | CA424036728 | AGT | c.450G>A (p.Gln150=) n.961G>A c.477G>A (p.Gln159=) | dbSNP |
| 1 | g.230710375T>A | CA345206607 | AGT | c.449A>T (p.Gln150Leu) n.960A>T c.476A>T (p.Gln159Leu) | |
| 1 | g.230710375T>C | CA345206608 | AGT | c.449A>G (p.Gln150Arg) n.960A>G c.476A>G (p.Gln159Arg) | dbSNP |
| 1 | g.230710375T>G | CA345206610 | AGT | c.449A>C (p.Gln150Pro) n.960A>C c.476A>C (p.Gln159Pro) | |
| 1 | g.230710375T= | CA1226669712 | AGT | c.449A= (p.Gln150=) n.960A= c.476A= (p.Gln159=) | |
| 1 | g.230710376G>A | CA345206612 | AGT | c.448C>T (p.Gln150Ter) n.959C>T c.475C>T (p.Gln159Ter) | dbSNP gnomAD v4 |
| 1 | g.230710376G>C | CA345206614 | AGT | c.448C>G (p.Gln150Glu) n.959C>G c.475C>G (p.Gln159Glu) | |
| 1 | g.230710376G= | CA1226669713 | AGT | c.448C= (p.Gln150=) n.959C= c.475C= (p.Gln159=) | |
| 1 | g.230710376G>T | CA345206615 | AGT | c.448C>A (p.Gln150Lys) n.959C>A c.475C>A (p.Gln159Lys) | |
| 1 | g.230710377T>A | CA424036737 | AGT | c.447A>T (p.Leu149=) n.958A>T c.474A>T (p.Leu158=) | |
| 1 | g.230710377T>C | CA424036738 | AGT | c.447A>G (p.Leu149=) n.958A>G c.474A>G (p.Leu158=) | dbSNP gnomAD v4 |
| 1 | g.230710377T>G | CA424036739 | AGT | c.447A>C (p.Leu149=) n.958A>C c.474A>C (p.Leu158=) | |
| 1 | g.230710377T= | CA1226669714 | AGT | c.447A= (p.Leu149=) n.958A= c.474A= (p.Leu158=) | |
| 1 | g.230710378A>C | CA345206616 | AGT | c.446T>G (p.Leu149Arg) n.957T>G c.473T>G (p.Leu158Arg) | |
| 1 | g.230710378A>G | CA345206618 | AGT | c.446T>C (p.Leu149Pro) n.957T>C c.473T>C (p.Leu158Pro) | |
| 1 | g.230710378A>T | CA345206620 | AGT | c.446T>A (p.Leu149Gln) n.957T>A c.473T>A (p.Leu158Gln) | |
| 1 | g.230710379G>A | CA424036744 | AGT | c.445C>T (p.Leu149=) n.956C>T c.472C>T (p.Leu158=) | |
| 1 | g.230710379G>C | CA345206621 | AGT | c.445C>G (p.Leu149Val) n.956C>G c.472C>G (p.Leu158Val) | |
| 1 | g.230710379G>T | CA345206623 | AGT | c.445C>A (p.Leu149Ile) n.956C>A c.472C>A (p.Leu158Ile) | |
| 1 | g.230710380C>A | CA345206624 | AGT | c.444G>T (p.Arg148Ser) n.955G>T c.471G>T (p.Arg157Ser) | |
| 1 | g.230710380C>G | CA345206626 | AGT | c.444G>C (p.Arg148Ser) n.955G>C c.471G>C (p.Arg157Ser) | |
| 1 | g.230710380C>T | CA424036750 | AGT | c.444G>A (p.Arg148=) n.955G>A c.471G>A (p.Arg157=) | |
| 1 | g.230710381C>A | CA345206628 | AGT | c.443G>T (p.Arg148Met) n.954G>T c.470G>T (p.Arg157Met) | |
| 1 | g.230710381C= | CA1226669715 | AGT | c.443G= (p.Arg148=) n.954G= c.470G= (p.Arg157=) | |
| 1 | g.230710381C>G | CA345206630 | AGT | c.443G>C (p.Arg148Thr) n.954G>C c.470G>C (p.Arg157Thr) | |
| 1 | g.230710381C>T | CA345206629 | AGT | c.443G>A (p.Arg148Lys) n.954G>A c.470G>A (p.Arg157Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710382T>A | CA345206631 | AGT | c.442A>T (p.Arg148Trp) n.953A>T c.469A>T (p.Arg157Trp) | |
| 1 | g.230710382T>C | CA345206633 | AGT | c.442A>G (p.Arg148Gly) n.953A>G c.469A>G (p.Arg157Gly) | |
| 1 | g.230710382T>G | CA424036755 | AGT | c.442A>C (p.Arg148=) n.953A>C c.469A>C (p.Arg157=) | gnomAD v4 |
| 1 | g.230710383G>A | CA424036758 | AGT | c.441C>T (p.Asp147=) n.952C>T c.468C>T (p.Asp156=) | |
| 1 | g.230710383G>C | CA345206635 | AGT | c.441C>G (p.Asp147Glu) n.952C>G c.468C>G (p.Asp156Glu) | |
| 1 | g.230710383G= | CA1226669716 | AGT | c.441C= (p.Asp147=) n.952C= c.468C= (p.Asp156=) | |
| 1 | g.230710383G>T | CA345206637 | AGT | c.441C>A (p.Asp147Glu) n.952C>A c.468C>A (p.Asp156Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710384T>A | CA345206638 | AGT | c.440A>T (p.Asp147Val) n.951A>T c.467A>T (p.Asp156Val) | |
| 1 | g.230710384T>C | CA1448293 | AGT | c.440A>G (p.Asp147Gly) n.951A>G c.467A>G (p.Asp156Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710384T>G | CA345206640 | AGT | c.440A>C (p.Asp147Ala) n.951A>C c.467A>C (p.Asp156Ala) | |
| 1 | g.230710384T= | CA1140727498 | AGT | c.440A= (p.Asp147=) n.951A= c.467A= (p.Asp156=) | |
| 1 | g.230710385C>A | CA345206641 | AGT | c.439G>T (p.Asp147Tyr) n.950G>T c.466G>T (p.Asp156Tyr) | |
| 1 | g.230710385C>G | CA345206643 | AGT | c.439G>C (p.Asp147His) n.950G>C c.466G>C (p.Asp156His) | gnomAD v4 COSMIC |
| 1 | g.230710385C>T | CA345206644 | AGT | c.439G>A (p.Asp147Asn) n.950G>A c.466G>A (p.Asp156Asn) | COSMIC |
| 1 | g.230710386A>C | CA424036760 | AGT | c.438T>G (p.Ala146=) n.949T>G c.465T>G (p.Ala155=) | |
| 1 | g.230710386A>G | CA424036761 | AGT | c.438T>C (p.Ala146=) n.949T>C c.465T>C (p.Ala155=) | |
| 1 | g.230710386A>T | CA424036762 | AGT | c.438T>A (p.Ala146=) n.949T>A c.465T>A (p.Ala155=) | |
| 1 | g.230710387G>A | CA1448294 | AGT | c.437C>T (p.Ala146Val) n.948C>T c.464C>T (p.Ala155Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710387G>C | CA345206648 | AGT | c.437C>G (p.Ala146Gly) n.948C>G c.464C>G (p.Ala155Gly) | |
| 1 | g.230710387G= | CA1141929753 | AGT | c.437C= (p.Ala146=) n.948C= c.464C= (p.Ala155=) | |
| 1 | g.230710387G>T | CA345206645 | AGT | c.437C>A (p.Ala146Asp) n.948C>A c.464C>A (p.Ala155Asp) | |
| 1 | g.230710388C>A | CA345206650 | AGT | c.436G>T (p.Ala146Ser) n.947G>T c.463G>T (p.Ala155Ser) | |
| 1 | g.230710388C= | CA1226669717 | AGT | c.436G= (p.Ala146=) n.947G= c.463G= (p.Ala155=) | |
| 1 | g.230710388C>G | CA345206651 | AGT | c.436G>C (p.Ala146Pro) n.947G>C c.463G>C (p.Ala155Pro) | |
| 1 | g.230710388C>T | CA345206653 | AGT | c.436G>A (p.Ala146Thr) n.947G>A c.463G>A (p.Ala155Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710389T>A | CA424036764 | AGT | c.435A>T (p.Thr145=) n.946A>T c.462A>T (p.Thr154=) | |
| 1 | g.230710389T>C | CA424036765 | AGT | c.435A>G (p.Thr145=) n.946A>G c.462A>G (p.Thr154=) | |
| 1 | g.230710389T>G | CA424036766 | AGT | c.435A>C (p.Thr145=) n.946A>C c.462A>C (p.Thr154=) | |
| 1 | g.230710393_230710394del | CA2574015666 | AGT | c.434_435del (p.Thr145SerfsTer2) n.945_946del c.461_462del (p.Thr154SerfsTer2) | |
| 1 | g.230710390G>A | CA1448295 | AGT | c.434C>T (p.Thr145Ile) n.945C>T c.461C>T (p.Thr154Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710390G>C | CA345206655 | AGT | c.434C>G (p.Thr145Arg) n.945C>G c.461C>G (p.Thr154Arg) | |
| 1 | g.230710390G= | CA1226669718 | AGT | c.434C= (p.Thr145=) n.945C= c.461C= (p.Thr154=) | |
| 1 | g.230710390G>T | CA345206656 | AGT | c.434C>A (p.Thr145Lys) n.945C>A c.461C>A (p.Thr154Lys) | |
| 1 | g.230710391T>A | CA345206659 | AGT | c.433A>T (p.Thr145Ser) n.944A>T c.460A>T (p.Thr154Ser) | |
| 1 | g.230710391T>C | CA345206657 | AGT | c.433A>G (p.Thr145Ala) n.944A>G c.460A>G (p.Thr154Ala) | dbSNP |
| 1 | g.230710391T>G | CA345206658 | AGT | c.433A>C (p.Thr145Pro) n.944A>C c.460A>C (p.Thr154Pro) | gnomAD v4 |
| 1 | g.230710391T= | CA1226669719 | AGT | c.433A= (p.Thr145=) n.944A= c.460A= (p.Thr154=) | |
| 1 | g.230710392G>A | CA424036769 | AGT | c.432C>T (p.His144=) n.943C>T c.459C>T (p.His153=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710392G>C | CA345206660 | AGT | c.432C>G (p.His144Gln) n.943C>G c.459C>G (p.His153Gln) | |
| 1 | g.230710392G= | CA1226669720 | AGT | c.432C= (p.His144=) n.943C= c.459C= (p.His153=) | |
| 1 | g.230710392G>T | CA345206661 | AGT | c.432C>A (p.His144Gln) n.943C>A c.459C>A (p.His153Gln) | |
| 1 | g.230710393T>A | CA345206662 | AGT | c.431A>T (p.His144Leu) n.942A>T c.458A>T (p.His153Leu) | |
| 1 | g.230710393T>C | CA345206663 | AGT | c.431A>G (p.His144Arg) n.942A>G c.458A>G (p.His153Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710393T>G | CA345206664 | AGT | c.431A>C (p.His144Pro) n.942A>C c.458A>C (p.His153Pro) | |
| 1 | g.230710393T= | CA1226669721 | AGT | c.431A= (p.His144=) n.942A= c.458A= (p.His153=) | |
| 1 | g.230710394G>A | CA345206665 | AGT | c.430C>T (p.His144Tyr) n.941C>T c.457C>T (p.His153Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710394G>C | CA345206667 | AGT | c.430C>G (p.His144Asp) n.941C>G c.457C>G (p.His153Asp) | gnomAD v4 |
| 1 | g.230710394G= | CA1226669722 | AGT | c.430C= (p.His144=) n.941C= c.457C= (p.His153=) | |
| 1 | g.230710394G>T | CA345206666 | AGT | c.430C>A (p.His144Asn) n.941C>A c.457C>A (p.His153Asn) | |
| 1 | g.230710395G>A | CA424036771 | AGT | c.429C>T (p.Asp143=) n.940C>T c.456C>T (p.Asp152=) | |
| 1 | g.230710395G>C | CA345206668 | AGT | c.429C>G (p.Asp143Glu) n.940C>G c.456C>G (p.Asp152Glu) | |
| 1 | g.230710395G>T | CA345206669 | AGT | c.429C>A (p.Asp143Glu) n.940C>A c.456C>A (p.Asp152Glu) | |
| 1 | g.230710396T>A | CA345206670 | AGT | c.428A>T (p.Asp143Val) n.939A>T c.455A>T (p.Asp152Val) | |
| 1 | g.230710396T>C | CA345206671 | AGT | c.428A>G (p.Asp143Gly) n.939A>G c.455A>G (p.Asp152Gly) | |
| 1 | g.230710396T>G | CA345206672 | AGT | c.428A>C (p.Asp143Ala) n.939A>C c.455A>C (p.Asp152Ala) | |
| 1 | g.230710397C>A | CA345206673 | AGT | c.427G>T (p.Asp143Tyr) n.938G>T c.454G>T (p.Asp152Tyr) | |
| 1 | g.230710397C>G | CA345206674 | AGT | c.427G>C (p.Asp143His) n.938G>C c.454G>C (p.Asp152His) | |
| 1 | g.230710397C>T | CA345206675 | AGT | c.427G>A (p.Asp143Asn) n.938G>A c.454G>A (p.Asp152Asn) | |
| 1 | g.230710398C>A | CA345206676 | AGT | c.426G>T (p.Leu142Phe) n.937G>T c.453G>T (p.Leu151Phe) | |
| 1 | g.230710398C= | CA1226669723 | AGT | c.426G= (p.Leu142=) n.937G= c.453G= (p.Leu151=) | |
| 1 | g.230710398C>G | CA345206677 | AGT | c.426G>C (p.Leu142Phe) n.937G>C c.453G>C (p.Leu151Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710398C>T | CA424036774 | AGT | c.426G>A (p.Leu142=) n.937G>A c.453G>A (p.Leu151=) | |
| 1 | g.230710399A= | CA1142347657 | AGT | c.425T= (p.Leu142=) n.936T= c.452T= (p.Leu151=) | |
| 1 | g.230710399A>C | CA1448296 | AGT | c.425T>G (p.Leu142Trp) n.936T>G c.452T>G (p.Leu151Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710399A>G | CA1448297 | AGT | c.425T>C (p.Leu142Ser) n.936T>C c.452T>C (p.Leu151Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710399A>T | CA345206678 | AGT | c.425T>A (p.Leu142Ter) n.936T>A c.452T>A (p.Leu151Ter) | |
| 1 | g.230710400A>C | CA345206679 | AGT | c.424T>G (p.Leu142Val) n.935T>G c.451T>G (p.Leu151Val) | |
| 1 | g.230710400A>G | CA424036778 | AGT | c.424T>C (p.Leu142=) n.935T>C c.451T>C (p.Leu151=) | |
| 1 | g.230710400A>T | CA345206680 | AGT | c.424T>A (p.Leu142Met) n.935T>A c.451T>A (p.Leu151Met) | |
| 1 | g.230710401G>A | CA424036782 | AGT | c.423C>T (p.Ala141=) n.934C>T c.450C>T (p.Ala150=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710401G>C | CA424036784 | AGT | c.423C>G (p.Ala141=) n.934C>G c.450C>G (p.Ala150=) | |
| 1 | g.230710401G= | CA1226669724 | AGT | c.423C= (p.Ala141=) n.934C= c.450C= (p.Ala150=) | |
| 1 | g.230710401G>T | CA424036783 | AGT | c.423C>A (p.Ala141=) n.934C>A c.450C>A (p.Ala150=) | |
| 1 | g.230710402G>A | CA345206681 | AGT | c.422C>T (p.Ala141Val) n.933C>T c.449C>T (p.Ala150Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710402G>C | CA345206683 | AGT | c.422C>G (p.Ala141Gly) n.933C>G c.449C>G (p.Ala150Gly) | |
| 1 | g.230710402G= | CA1226669725 | AGT | c.422C= (p.Ala141=) n.933C= c.449C= (p.Ala150=) | |
| 1 | g.230710402G>T | CA345206682 | AGT | c.422C>A (p.Ala141Asp) n.933C>A c.449C>A (p.Ala150Asp) | |
| 1 | g.230710403C>A | CA345206684 | AGT | c.421G>T (p.Ala141Ser) n.932G>T c.448G>T (p.Ala150Ser) | |
| 1 | g.230710403C= | CA1148873303 | AGT | c.421G= (p.Ala141=) n.932G= c.448G= (p.Ala150=) | |
| 1 | g.230710403C>G | CA345206685 | AGT | c.421G>C (p.Ala141Pro) n.932G>C c.448G>C (p.Ala150Pro) | |
| 1 | g.230710403C>T | CA1448298 | AGT | c.421G>A (p.Ala141Thr) n.932G>A c.448G>A (p.Ala150Thr) | dbSNP ExAC |
| 1 | g.230710404T>A | CA424036788 | AGT | c.420A>T (p.Gly140=) n.931A>T c.447A>T (p.Gly149=) | |
| 1 | g.230710404T>C | CA424036789 | AGT | c.420A>G (p.Gly140=) n.931A>G c.447A>G (p.Gly149=) | |
| 1 | g.230710404T>G | CA424036790 | AGT | c.420A>C (p.Gly140=) n.931A>C c.447A>C (p.Gly149=) | |
| 1 | g.230710405C>A | CA345206686 | AGT | c.419G>T (p.Gly140Val) n.930G>T c.446G>T (p.Gly149Val) | |
| 1 | g.230710405C= | CA1226669726 | AGT | c.419G= (p.Gly140=) n.930G= c.446G= (p.Gly149=) | |
| 1 | g.230710405C>G | CA345206687 | AGT | c.419G>C (p.Gly140Ala) n.930G>C c.446G>C (p.Gly149Ala) | gnomAD v4 |
| 1 | g.230710405C>T | CA345206688 | AGT | c.419G>A (p.Gly140Glu) n.930G>A c.446G>A (p.Gly149Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710406C>A | CA345206689 | AGT | c.418G>T (p.Gly140Ter) n.929G>T c.445G>T (p.Gly149Ter) | |
| 1 | g.230710406C= | CA1226669727 | AGT | c.418G= (p.Gly140=) n.929G= c.445G= (p.Gly149=) | |
| 1 | g.230710406C>G | CA345206690 | AGT | c.418G>C (p.Gly140Arg) n.929G>C c.445G>C (p.Gly149Arg) | |
| 1 | g.230710406C>T | CA345206691 | AGT | c.418G>A (p.Gly140Arg) n.929G>A c.445G>A (p.Gly149Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710407C>A | CA424036792 | AGT | c.417G>T (p.Leu139=) n.928G>T c.444G>T (p.Leu148=) | |
| 1 | g.230710407C>G | CA424036794 | AGT | c.417G>C (p.Leu139=) n.928G>C c.444G>C (p.Leu148=) | |
| 1 | g.230710407C>T | CA424036796 | AGT | c.417G>A (p.Leu139=) n.928G>A c.444G>A (p.Leu148=) | gnomAD v4 |
| 1 | g.230710408A>C | CA345206692 | AGT | c.416T>G (p.Leu139Arg) n.927T>G c.443T>G (p.Leu148Arg) | |
| 1 | g.230710408A>G | CA345206693 | AGT | c.416T>C (p.Leu139Pro) n.927T>C c.443T>C (p.Leu148Pro) | |
| 1 | g.230710408A>T | CA345206694 | AGT | c.416T>A (p.Leu139Gln) n.927T>A c.443T>A (p.Leu148Gln) | |
| 1 | g.230710409G>A | CA424036798 | AGT | c.415C>T (p.Leu139=) n.926C>T c.442C>T (p.Leu148=) | |
| 1 | g.230710409G>C | CA345206695 | AGT | c.415C>G (p.Leu139Val) n.926C>G c.442C>G (p.Leu148Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710409G= | CA1226669728 | AGT | c.415C= (p.Leu139=) n.926C= c.442C= (p.Leu148=) | |
| 1 | g.230710409G>T | CA345206696 | AGT | c.415C>A (p.Leu139Met) n.926C>A c.442C>A (p.Leu148Met) | |
| 1 | g.230710410A= | CA1226669729 | AGT | c.414T= (p.Tyr138=) n.925T= c.441T= (p.Tyr147=) | |
| 1 | g.230710410A>C | CA345206698 | AGT | c.414T>G (p.Tyr138Ter) n.925T>G c.441T>G (p.Tyr147Ter) | |
| 1 | g.230710410A>G | CA38871797 | AGT | c.414T>C (p.Tyr138=) n.925T>C c.441T>C (p.Tyr147=) | dbSNP |
| 1 | g.230710410A>T | CA345206697 | AGT | c.414T>A (p.Tyr138Ter) n.925T>A c.441T>A (p.Tyr147Ter) | |
| 1 | g.230710411T>A | CA345206699 | AGT | c.413A>T (p.Tyr138Phe) n.924A>T c.440A>T (p.Tyr147Phe) | |
| 1 | g.230710411T>C | CA1448299 | AGT | c.413A>G (p.Tyr138Cys) n.924A>G c.440A>G (p.Tyr147Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710411T>G | CA345206700 | AGT | c.413A>C (p.Tyr138Ser) n.924A>C c.440A>C (p.Tyr147Ser) | |
| 1 | g.230710411T= | CA1146400865 | AGT | c.413A= (p.Tyr138=) n.924A= c.440A= (p.Tyr147=) | |
| 1 | g.230710411_230710415delinsTAGAG | CA1226669730 | AGT | c.409_413delinsCTCTA (p.Leu137=) n.920_924delinsCTCTA c.436_440delinsCTCTA (p.Leu146=) | |
| 1 | g.230710412A>C | CA345206701 | AGT | c.412T>G (p.Tyr138Asp) n.923T>G c.439T>G (p.Tyr147Asp) | |
| 1 | g.230710412A>G | CA345206702 | AGT | c.412T>C (p.Tyr138His) n.923T>C c.439T>C (p.Tyr147His) | |
| 1 | g.230710412A>T | CA345206703 | AGT | c.412T>A (p.Tyr138Asn) n.923T>A c.439T>A (p.Tyr147Asn) | |
| 1 | g.230710416_230710419del | CA1226669731 | AGT | c.409_412del (p.Leu137IlefsTer?) n.920_923del c.436_439del (p.Leu146IlefsTer?) | dbSNP |
| 1 | g.230710413G>A | CA1448300 | AGT | c.411C>T (p.Leu137=) n.922C>T c.438C>T (p.Leu146=) | dbSNP ExAC |
| 1 | g.230710413G>C | CA424036804 | AGT | c.411C>G (p.Leu137=) n.922C>G c.438C>G (p.Leu146=) | |
| 1 | g.230710413G= | CA1226669732 | AGT | c.411C= (p.Leu137=) n.922C= c.438C= (p.Leu146=) | |
| 1 | g.230710413G>T | CA424036802 | AGT | c.411C>A (p.Leu137=) n.922C>A c.438C>A (p.Leu146=) | |
| 1 | g.230710414A>C | CA345206704 | AGT | c.410T>G (p.Leu137Arg) n.921T>G c.437T>G (p.Leu146Arg) | |
| 1 | g.230710414A>G | CA345206705 | AGT | c.410T>C (p.Leu137Pro) n.921T>C c.437T>C (p.Leu146Pro) | |
| 1 | g.230710414A>T | CA345206706 | AGT | c.410T>A (p.Leu137His) n.921T>A c.437T>A (p.Leu146His) | |
| 1 | g.230710415G>A | CA345206708 | AGT | c.409C>T (p.Leu137Phe) n.920C>T c.436C>T (p.Leu146Phe) | gnomAD v4 |
| 1 | g.230710415G>C | CA345206709 | AGT | c.409C>G (p.Leu137Val) n.920C>G c.436C>G (p.Leu146Val) | |
| 1 | g.230710415G>T | CA345206707 | AGT | c.409C>A (p.Leu137Ile) n.920C>A c.436C>A (p.Leu146Ile) | |
| 1 | g.230710416A>C | CA424036806 | AGT | c.408T>G (p.Ser136=) n.919T>G c.435T>G (p.Ser145=) | |
| 1 | g.230710416A>G | CA424036807 | AGT | c.408T>C (p.Ser136=) n.919T>C c.435T>C (p.Ser145=) | |
| 1 | g.230710416A>T | CA424036808 | AGT | c.408T>A (p.Ser136=) n.919T>A c.435T>A (p.Ser145=) | |
| 1 | g.230710417G>A | CA345206710 | AGT | c.407C>T (p.Ser136Phe) n.918C>T c.434C>T (p.Ser145Phe) | gnomAD v4 |
| 1 | g.230710417G>C | CA345206711 | AGT | c.407C>G (p.Ser136Cys) n.918C>G c.434C>G (p.Ser145Cys) | |
| 1 | g.230710417G>T | CA345206712 | AGT | c.407C>A (p.Ser136Tyr) n.918C>A c.434C>A (p.Ser145Tyr) | |
| 1 | g.230710418A>C | CA345206713 | AGT | c.406T>G (p.Ser136Ala) n.917T>G c.433T>G (p.Ser145Ala) | |
| 1 | g.230710418A>G | CA345206714 | AGT | c.406T>C (p.Ser136Pro) n.917T>C c.433T>C (p.Ser145Pro) | |
| 1 | g.230710418A>T | CA345206715 | AGT | c.406T>A (p.Ser136Thr) n.917T>A c.433T>A (p.Ser145Thr) | |
| 1 | g.230710419G>A | CA424036814 | AGT | c.405C>T (p.Ala135=) n.916C>T c.432C>T (p.Ala144=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710419G>C | CA424036816 | AGT | c.405C>G (p.Ala135=) n.916C>G c.432C>G (p.Ala144=) | |
| 1 | g.230710419G= | CA1226669733 | AGT | c.405C= (p.Ala135=) n.916C= c.432C= (p.Ala144=) | |
| 1 | g.230710419G>T | CA424036818 | AGT | c.405C>A (p.Ala135=) n.916C>A c.432C>A (p.Ala144=) | |
| 1 | g.230710420G>A | CA345206716 | AGT | c.404C>T (p.Ala135Val) n.915C>T c.431C>T (p.Ala144Val) | |
| 1 | g.230710420G>C | CA345206717 | AGT | c.404C>G (p.Ala135Gly) n.915C>G c.431C>G (p.Ala144Gly) | |
| 1 | g.230710420G>T | CA345206718 | AGT | c.404C>A (p.Ala135Asp) n.915C>A c.431C>A (p.Ala144Asp) | |
| 1 | g.230710421C>A | CA345206719 | AGT | c.403G>T (p.Ala135Ser) n.914G>T c.430G>T (p.Ala144Ser) | |
| 1 | g.230710421C= | CA1141631937 | AGT | c.403G= (p.Ala135=) n.914G= c.430G= (p.Ala144=) | |
| 1 | g.230710421C>G | CA345206720 | AGT | c.403G>C (p.Ala135Pro) n.914G>C c.430G>C (p.Ala144Pro) | |
| 1 | g.230710421C>T | CA1448301 | AGT | c.403G>A (p.Ala135Thr) n.914G>A c.430G>A (p.Ala144Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710422C>A | CA424036823 | AGT | c.402G>T (p.Leu134=) n.913G>T c.429G>T (p.Leu143=) | |
| 1 | g.230710422C>G | CA424036822 | AGT | c.402G>C (p.Leu134=) n.913G>C c.429G>C (p.Leu143=) | |
| 1 | g.230710422C>T | CA424036821 | AGT | c.402G>A (p.Leu134=) n.913G>A c.429G>A (p.Leu143=) | |
| 1 | g.230710423A>C | CA345206722 | AGT | c.401T>G (p.Leu134Arg) n.912T>G c.428T>G (p.Leu143Arg) | |
| 1 | g.230710423A>G | CA345206723 | AGT | c.401T>C (p.Leu134Pro) n.912T>C c.428T>C (p.Leu143Pro) | |
| 1 | g.230710423A>T | CA345206721 | AGT | c.401T>A (p.Leu134Gln) n.912T>A c.428T>A (p.Leu143Gln) | |
| 1 | g.230710424G>A | CA424036827 | AGT | c.400C>T (p.Leu134=) n.911C>T c.427C>T (p.Leu143=) | |
| 1 | g.230710424G>C | CA345206724 | AGT | c.400C>G (p.Leu134Val) n.911C>G c.427C>G (p.Leu143Val) | |
| 1 | g.230710424G>T | CA345206725 | AGT | c.400C>A (p.Leu134Met) n.911C>A c.427C>A (p.Leu143Met) | |
| 1 | g.230710425G>A | CA424036828 | AGT | c.399C>T (p.Thr133=) n.910C>T c.426C>T (p.Thr142=) | gnomAD v4 |
| 1 | g.230710425G>C | CA424036830 | AGT | c.399C>G (p.Thr133=) n.910C>G c.426C>G (p.Thr142=) | |
| 1 | g.230710425G>T | CA424036832 | AGT | c.399C>A (p.Thr133=) n.910C>A c.426C>A (p.Thr142=) | |
| 1 | g.230710426G>A | CA345206726 | AGT | c.398C>T (p.Thr133Ile) n.909C>T c.425C>T (p.Thr142Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710426G>C | CA1448302 | AGT | c.398C>G (p.Thr133Ser) n.909C>G c.425C>G (p.Thr142Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710426G= | CA1226669734 | AGT | c.398C= (p.Thr133=) n.909C= c.425C= (p.Thr142=) | |
| 1 | g.230710426G>T | CA345206727 | AGT | c.398C>A (p.Thr133Asn) n.909C>A c.425C>A (p.Thr142Asn) | |
| 1 | g.230710427T>A | CA345206729 | AGT | c.397A>T (p.Thr133Ser) n.908A>T c.424A>T (p.Thr142Ser) | |
| 1 | g.230710427T>C | CA1448303 | AGT | c.397A>G (p.Thr133Ala) n.908A>G c.424A>G (p.Thr142Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710427T>G | CA345206728 | AGT | c.397A>C (p.Thr133Pro) n.908A>C c.424A>C (p.Thr142Pro) | dbSNP |
| 1 | g.230710427T= | CA1226669735 | AGT | c.397A= (p.Thr133=) n.908A= c.424A= (p.Thr142=) | |
| 1 | g.230710427_230710437delinsTGCCAAAGACA | CA1226669736 | AGT | c.387_397delinsTGTCTTTGGCA (p.Ala129=) n.898_908delinsTGTCTTTGGCA c.414_424delinsTGTCTTTGGCA (p.Ala138=) | |
| 1 | g.230710428G>A | CA424036836 | AGT | c.396C>T (p.Gly132=) n.907C>T c.423C>T (p.Gly141=) | |
| 1 | g.230710428G>C | CA424036837 | AGT | c.396C>G (p.Gly132=) n.907C>G c.423C>G (p.Gly141=) | |
| 1 | g.230710428G>T | CA424036838 | AGT | c.396C>A (p.Gly132=) n.907C>A c.423C>A (p.Gly141=) | |
| 1 | g.230710431_230710440del | CA1013239946 | AGT | c.387_396del (p.Val130ProfsTer?) n.898_907del c.414_423del (p.Val139ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710429C>A | CA345206730 | AGT | c.395G>T (p.Gly132Val) n.906G>T c.422G>T (p.Gly141Val) | |
| 1 | g.230710429C= | CA1226669737 | AGT | c.395G= (p.Gly132=) n.906G= c.422G= (p.Gly141=) | |
| 1 | g.230710429C>G | CA345206731 | AGT | c.395G>C (p.Gly132Ala) n.906G>C c.422G>C (p.Gly141Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710429C>T | CA345206732 | AGT | c.395G>A (p.Gly132Asp) n.906G>A c.422G>A (p.Gly141Asp) | |
| 1 | g.230710430C>A | CA345206733 | AGT | c.394G>T (p.Gly132Cys) n.905G>T c.421G>T (p.Gly141Cys) | dbSNP gnomAD v4 |
| 1 | g.230710430C= | CA1226669738 | AGT | c.394G= (p.Gly132=) n.905G= c.421G= (p.Gly141=) | |
| 1 | g.230710430C>G | CA345206734 | AGT | c.394G>C (p.Gly132Arg) n.905G>C c.421G>C (p.Gly141Arg) | |
| 1 | g.230710430C>T | CA345206735 | AGT | c.394G>A (p.Gly132Ser) n.905G>A c.421G>A (p.Gly141Ser) | |
| 1 | g.230710431A>C | CA345206737 | AGT | c.393T>G (p.Phe131Leu) n.904T>G c.420T>G (p.Phe140Leu) | |
| 1 | g.230710431A>G | CA424036842 | AGT | c.393T>C (p.Phe131=) n.904T>C c.420T>C (p.Phe140=) | |
| 1 | g.230710431A>T | CA345206736 | AGT | c.393T>A (p.Phe131Leu) n.904T>A c.420T>A (p.Phe140Leu) | |
| 1 | g.230710432A>C | CA345206738 | AGT | c.392T>G (p.Phe131Cys) n.903T>G c.419T>G (p.Phe140Cys) | |
| 1 | g.230710432A>G | CA345206740 | AGT | c.392T>C (p.Phe131Ser) n.903T>C c.419T>C (p.Phe140Ser) | |
| 1 | g.230710432A>T | CA345206739 | AGT | c.392T>A (p.Phe131Tyr) n.903T>A c.419T>A (p.Phe140Tyr) | |
| 1 | g.230710433A>C | CA345206741 | AGT | c.391T>G (p.Phe131Val) n.902T>G c.418T>G (p.Phe140Val) | |
| 1 | g.230710433A>G | CA345206742 | AGT | c.391T>C (p.Phe131Leu) n.902T>C c.418T>C (p.Phe140Leu) | |
| 1 | g.230710433A>T | CA345206743 | AGT | c.391T>A (p.Phe131Ile) n.902T>A c.418T>A (p.Phe140Ile) | |
| 1 | g.230710434G>A | CA424036846 | AGT | c.390C>T (p.Val130=) n.901C>T c.417C>T (p.Val139=) | COSMIC |
| 1 | g.230710434G>C | CA1448304 | AGT | c.390C>G (p.Val130=) n.901C>G c.417C>G (p.Val139=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710434G= | CA1226669739 | AGT | c.390C= (p.Val130=) n.901C= c.417C= (p.Val139=) | |
| 1 | g.230710434G>T | CA424036847 | AGT | c.390C>A (p.Val130=) n.901C>A c.417C>A (p.Val139=) | |
| 1 | g.230710435A>C | CA345206744 | AGT | c.389T>G (p.Val130Gly) n.900T>G c.416T>G (p.Val139Gly) | |
| 1 | g.230710435A>G | CA345206745 | AGT | c.389T>C (p.Val130Ala) n.900T>C c.416T>C (p.Val139Ala) | |
| 1 | g.230710435A>T | CA345206746 | AGT | c.389T>A (p.Val130Asp) n.900T>A c.416T>A (p.Val139Asp) | |
| 1 | g.230710436C>A | CA345206747 | AGT | c.388G>T (p.Val130Phe) n.899G>T c.415G>T (p.Val139Phe) | |
| 1 | g.230710436C= | CA1141986167 | AGT | c.388G= (p.Val130=) n.899G= c.415G= (p.Val139=) | |
| 1 | g.230710436C>G | CA1448305 | AGT | c.388G>C (p.Val130Leu) n.899G>C c.415G>C (p.Val139Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710436C>T | CA345206748 | AGT | c.388G>A (p.Val130Ile) n.899G>A c.415G>A (p.Val139Ile) | dbSNP |
| 1 | g.230710437A>C | CA424036850 | AGT | c.387T>G (p.Ala129=) n.898T>G c.414T>G (p.Ala138=) | |
| 1 | g.230710437A>G | CA424036852 | AGT | c.387T>C (p.Ala129=) n.898T>C c.414T>C (p.Ala138=) | |
| 1 | g.230710437A>T | CA424036854 | AGT | c.387T>A (p.Ala129=) n.898T>A c.414T>A (p.Ala138=) | |
| 1 | g.230710438G>A | CA345206749 | AGT | c.386C>T (p.Ala129Val) n.897C>T c.413C>T (p.Ala138Val) | |
| 1 | g.230710438G>C | CA345206750 | AGT | c.386C>G (p.Ala129Gly) n.897C>G c.413C>G (p.Ala138Gly) | |
| 1 | g.230710438G>T | CA345206751 | AGT | c.386C>A (p.Ala129Asp) n.897C>A c.413C>A (p.Ala138Asp) | |
| 1 | g.230710439C>A | CA1448306 | AGT | c.385G>T (p.Ala129Ser) n.896G>T c.412G>T (p.Ala138Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710439C= | CA1140727499 | AGT | c.385G= (p.Ala129=) n.896G= c.412G= (p.Ala138=) | |
| 1 | g.230710439C>G | CA345206752 | AGT | c.385G>C (p.Ala129Pro) n.896G>C c.412G>C (p.Ala138Pro) | |
| 1 | g.230710439C>T | CA345206753 | AGT | c.385G>A (p.Ala129Thr) n.896G>A c.412G>A (p.Ala138Thr) | COSMIC |
| 1 | g.230710440C>A | CA424036858 | AGT | c.384G>T (p.Thr128=) n.895G>T c.411G>T (p.Thr137=) | |
| 1 | g.230710440C= | CA1147004772 | AGT | c.384G= (p.Thr128=) n.895G= c.411G= (p.Thr137=) | |
| 1 | g.230710440C>G | CA1448307 | AGT | c.384G>C (p.Thr128=) n.895G>C c.411G>C (p.Thr137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710440C>T | CA1448308 | AGT | c.384G>A (p.Thr128=) n.895G>A c.411G>A (p.Thr137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710441G>A | CA1448309 | AGT | c.383C>T (p.Thr128Met) n.894C>T c.410C>T (p.Thr137Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710441G>C | CA345206754 | AGT | c.383C>G (p.Thr128Arg) n.894C>G c.410C>G (p.Thr137Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.230710441G= | CA1140540383 | AGT | c.383C= (p.Thr128=) n.894C= c.410C= (p.Thr137=) | |
| 1 | g.230710441G>T | CA345206755 | AGT | c.383C>A (p.Thr128Lys) n.894C>A c.410C>A (p.Thr137Lys) | |
| 1 | g.230710442T>A | CA345206756 | AGT | c.382A>T (p.Thr128Ser) n.893A>T c.409A>T (p.Thr137Ser) | |
| 1 | g.230710442T>C | CA1448310 | AGT | c.382A>G (p.Thr128Ala) n.893A>G c.409A>G (p.Thr137Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710442T>G | CA345206757 | AGT | c.382A>C (p.Thr128Pro) n.893A>C c.409A>C (p.Thr137Pro) | |
| 1 | g.230710442T= | CA1141611965 | AGT | c.382A= (p.Thr128=) n.893A= c.409A= (p.Thr137=) | |
| 1 | g.230710443T>A | CA424036863 | AGT | c.381A>T (p.Pro127=) n.892A>T c.408A>T (p.Pro136=) | |
| 1 | g.230710443T>C | CA424036866 | AGT | c.381A>G (p.Pro127=) n.892A>G c.408A>G (p.Pro136=) | |
| 1 | g.230710443T>G | CA424036864 | AGT | c.381A>C (p.Pro127=) n.892A>C c.408A>C (p.Pro136=) | |
| 1 | g.230710444G>A | CA345206758 | AGT | c.380C>T (p.Pro127Leu) n.891C>T c.407C>T (p.Pro136Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710444G>C | CA345206759 | AGT | c.380C>G (p.Pro127Arg) n.891C>G c.407C>G (p.Pro136Arg) | |
| 1 | g.230710444G= | CA1226669740 | AGT | c.380C= (p.Pro127=) n.891C= c.407C= (p.Pro136=) | |
| 1 | g.230710444G>T | CA345206760 | AGT | c.380C>A (p.Pro127Gln) n.891C>A c.407C>A (p.Pro136Gln) | |
| 1 | g.230710445G>A | CA345206763 | AGT | c.379C>T (p.Pro127Ser) n.890C>T c.406C>T (p.Pro136Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710445G>C | CA345206762 | AGT | c.379C>G (p.Pro127Ala) n.890C>G c.406C>G (p.Pro136Ala) | |
| 1 | g.230710445G= | CA1226669741 | AGT | c.379C= (p.Pro127=) n.890C= c.406C= (p.Pro136=) | |
| 1 | g.230710445G>T | CA345206761 | AGT | c.379C>A (p.Pro127Thr) n.890C>A c.406C>A (p.Pro136Thr) | |
| 1 | g.230710446G>A | CA424036870 | AGT | c.378C>T (p.Ser126=) n.889C>T c.405C>T (p.Ser135=) | |
| 1 | g.230710446G>C | CA424036871 | AGT | c.378C>G (p.Ser126=) n.889C>G c.405C>G (p.Ser135=) | gnomAD v4 |
| 1 | g.230710446G= | CA1140265665 | AGT | c.378C= (p.Ser126=) n.889C= c.405C= (p.Ser135=) | |
| 1 | g.230710446G>T | CA38871869 | AGT | c.378C>A (p.Ser126=) n.889C>A c.405C>A (p.Ser135=) | dbSNP |
| 1 | g.230710447G>A | CA345206764 | AGT | c.377C>T (p.Ser126Phe) n.888C>T c.404C>T (p.Ser135Phe) | |
| 1 | g.230710447G>C | CA345206765 | AGT | c.377C>G (p.Ser126Cys) n.888C>G c.404C>G (p.Ser135Cys) | |
| 1 | g.230710447G>T | CA345206766 | AGT | c.377C>A (p.Ser126Tyr) n.888C>A c.404C>A (p.Ser135Tyr) | |
| 1 | g.230710448A>C | CA345206767 | AGT | c.376T>G (p.Ser126Ala) n.887T>G c.403T>G (p.Ser135Ala) | |
| 1 | g.230710448A>G | CA345206768 | AGT | c.376T>C (p.Ser126Pro) n.887T>C c.403T>C (p.Ser135Pro) | gnomAD v4 |
| 1 | g.230710448A>T | CA345206769 | AGT | c.376T>A (p.Ser126Thr) n.887T>A c.403T>A (p.Ser135Thr) | |
| 1 | g.230710449G>A | CA38871874 | AGT | c.375C>T (p.Leu125=) n.886C>T c.402C>T (p.Leu134=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.230710449G>C | CA424036875 | AGT | c.375C>G (p.Leu125=) n.886C>G c.402C>G (p.Leu134=) | |
| 1 | g.230710449G= | CA1140265666 | AGT | c.375C= (p.Leu125=) n.886C= c.402C= (p.Leu134=) | |
| 1 | g.230710449G>T | CA424036876 | AGT | c.375C>A (p.Leu125=) n.886C>A c.402C>A (p.Leu134=) | |
| 1 | g.230710450A= | CA1226669742 | AGT | c.374T= (p.Leu125=) n.885T= c.401T= (p.Leu134=) | |
| 1 | g.230710450A>C | CA345206770 | AGT | c.374T>G (p.Leu125Arg) n.885T>G c.401T>G (p.Leu134Arg) | |
| 1 | g.230710450A>G | CA345206771 | AGT | c.374T>C (p.Leu125Pro) n.885T>C c.401T>C (p.Leu134Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.230710450A>T | CA345206772 | AGT | c.374T>A (p.Leu125His) n.885T>A c.401T>A (p.Leu134His) | |
| 1 | g.230710451G>A | CA38871888 | AGT | c.373C>T (p.Leu125Phe) n.884C>T c.400C>T (p.Leu134Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710451G>C | CA345206773 | AGT | c.373C>G (p.Leu125Val) n.884C>G c.400C>G (p.Leu134Val) | dbSNP |
| 1 | g.230710451G= | CA1144100458 | AGT | c.373C= (p.Leu125=) n.884C= c.400C= (p.Leu134=) | |
| 1 | g.230710451G>T | CA345206774 | AGT | c.373C>A (p.Leu125Ile) n.884C>A c.400C>A (p.Leu134Ile) | |
| 1 | g.230710452G>A | CA424036881 | AGT | c.372C>T (p.Val124=) n.883C>T c.399C>T (p.Val133=) | |
| 1 | g.230710452G>C | CA424036882 | AGT | c.372C>G (p.Val124=) n.883C>G c.399C>G (p.Val133=) | |
| 1 | g.230710452G= | CA1226669744 | AGT | c.372C= (p.Val124=) n.883C= c.399C= (p.Val133=) | |
| 1 | g.230710452G>T | CA1448311 | AGT | c.372C>A (p.Val124=) n.883C>A c.399C>A (p.Val133=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.230710452_230710453delinsGA | CA1226669743 | AGT | c.371_372delinsTC (p.Val124=) n.882_883delinsTC c.398_399delinsTC (p.Val133=) | |
| 1 | g.230710453del | CA1226669745 | AGT | c.371del (p.Val124AlafsTer?) n.882del c.398del (p.Val133AlafsTer?) | dbSNP gnomAD v4 |
| 1 | g.230710453A>C | CA345206775 | AGT | c.371T>G (p.Val124Gly) n.882T>G c.398T>G (p.Val133Gly) | |
| 1 | g.230710453A>G | CA345206776 | AGT | c.371T>C (p.Val124Ala) n.882T>C c.398T>C (p.Val133Ala) | |
| 1 | g.230710453A>T | CA345206777 | AGT | c.371T>A (p.Val124Asp) n.882T>A c.398T>A (p.Val133Asp) | |
| 1 | g.230710454C>A | CA345206778 | AGT | c.370G>T (p.Val124Phe) n.881G>T c.397G>T (p.Val133Phe) | |
| 1 | g.230710454C= | CA1146679595 | AGT | c.370G= (p.Val124=) n.881G= c.397G= (p.Val133=) | |
| 1 | g.230710454C>G | CA345206779 | AGT | c.370G>C (p.Val124Leu) n.881G>C c.397G>C (p.Val133Leu) | |
| 1 | g.230710454C>T | CA1448312 | AGT | c.370G>A (p.Val124Ile) n.881G>A c.397G>A (p.Val133Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710455G>A | CA1448313 | AGT | c.369C>T (p.Thr123=) n.880C>T c.396C>T (p.Thr132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.230710455G>C | CA424036888 | AGT | c.369C>G (p.Thr123=) n.880C>G c.396C>G (p.Thr132=) | dbSNP gnomAD v4 |
| 1 | g.230710455G= | CA1143466367 | AGT | c.369C= (p.Thr123=) n.880C= c.396C= (p.Thr132=) | |
| 1 | g.230710455G>T | CA424036887 | AGT | c.369C>A (p.Thr123=) n.880C>A c.396C>A (p.Thr132=) | COSMIC |
| 1 | g.230710456G>A | CA345206780 | AGT | c.368C>T (p.Thr123Ile) n.879C>T c.395C>T (p.Thr132Ile) | gnomAD v4 |
| 1 | g.230710456G>C | CA345206781 | AGT | c.368C>G (p.Thr123Ser) n.879C>G c.395C>G (p.Thr132Ser) | gnomAD v4 |
| 1 | g.230710456G>T | CA345206782 | AGT | c.368C>A (p.Thr123Asn) n.879C>A c.395C>A (p.Thr132Asn) | gnomAD v4 |
| 1 | g.230710457T>A | CA345206783 | AGT | c.367A>T (p.Thr123Ser) n.878A>T c.394A>T (p.Thr132Ser) | |
| 1 | g.230710457T>C | CA345206784 | AGT | c.367A>G (p.Thr123Ala) n.878A>G c.394A>G (p.Thr132Ala) | |
| 1 | g.230710457T>G | CA345206785 | AGT | c.367A>C (p.Thr123Pro) n.878A>C c.394A>C (p.Thr132Pro) | dbSNP |
| 1 | g.230710457T= | CA1226669746 | AGT | c.367A= (p.Thr123=) n.878A= c.394A= (p.Thr132=) | |
| 1 | g.230710458G>A | CA424036894 | AGT | c.366C>T (p.Ala122=) n.877C>T c.393C>T (p.Ala131=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.230710458G>C | CA424036896 | AGT | c.366C>G (p.Ala122=) n.877C>G c.393C>G (p.Ala131=) | |
| 1 | g.230710458G= | CA1226669747 | AGT | c.366C= (p.Ala122=) n.877C= c.393C= (p.Ala131=) | |
| 1 | g.230710458G>T | CA424036895 | AGT | c.366C>A (p.Ala122=) n.877C>A c.393C>A (p.Ala131=) | |
| 1 | g.230710459G>A | CA345206786 | AGT | c.365C>T (p.Ala122Val) n.876C>T c.392C>T (p.Ala131Val) | |
| 1 | g.230710459G>C | CA345206788 | AGT | c.365C>G (p.Ala122Gly) n.876C>G c.392C>G (p.Ala131Gly) | |
| 1 | g.230710459G= | CA1226669748 | AGT | c.365C= (p.Ala122=) n.876C= c.392C= (p.Ala131=) | |
| 1 | g.230710459G>T | CA345206787 | AGT | c.365C>A (p.Ala122Asp) n.876C>A c.392C>A (p.Ala131Asp) | dbSNP gnomAD v3 gnomAD v4 |