Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18787611_18787626delinsTGTTGCGCTGGTCTGG | CA2326526124 | COMP | c.1000_1015delinsCCAGACCAGCGCAACA (p.Pro334=) c.841_856delinsCCAGACCAGCGCAACA (p.Pro281=) c.901_916delinsCCAGACCAGCGCAACA (p.Pro301=) | |
19 | g.18787615_18787629del | CA915952951 | COMP | c.1000_1014del (p.Pro334_Asn338del) c.841_855del (p.Pro281_Asn285del) c.901_915del (p.Pro301_Asn305del) | ClinVar dbSNP |
19 | g.18787618C>A | CA404888707 | COMP | c.1008G>T (p.Gln336His) c.849G>T (p.Gln283His) c.909G>T (p.Gln303His) | |
19 | g.18787618C>G | CA404888710 | COMP | c.1008G>C (p.Gln336His) c.849G>C (p.Gln283His) c.909G>C (p.Gln303His) | |
19 | g.18787618C>T | CA506053111 | COMP | c.1008G>A (p.Gln336=) c.849G>A (p.Gln283=) c.909G>A (p.Gln303=) | COSMIC |
19 | g.18787619T>A | CA404888719 | COMP | c.1007A>T (p.Gln336Leu) c.848A>T (p.Gln283Leu) c.908A>T (p.Gln303Leu) | |
19 | g.18787619T>C | CA404888714 | COMP | c.1007A>G (p.Gln336Arg) c.848A>G (p.Gln283Arg) c.908A>G (p.Gln303Arg) | |
19 | g.18787619T>G | CA404888716 | COMP | c.1007A>C (p.Gln336Pro) c.848A>C (p.Gln283Pro) c.908A>C (p.Gln303Pro) | |
19 | g.18787620G>A | CA404888723 | COMP | c.1006C>T (p.Gln336Ter) c.847C>T (p.Gln283Ter) c.907C>T (p.Gln303Ter) | |
19 | g.18787620G>C | CA404888725 | COMP | c.1006C>G (p.Gln336Glu) c.847C>G (p.Gln283Glu) c.907C>G (p.Gln303Glu) | |
19 | g.18787620G>T | CA404888726 | COMP | c.1006C>A (p.Gln336Lys) c.847C>A (p.Gln283Lys) c.907C>A (p.Gln303Lys) | |
19 | g.18787621G>A | CA506053112 | COMP | c.1005C>T (p.Asp335=) c.846C>T (p.Asp282=) c.906C>T (p.Asp302=) | |
19 | g.18787621G>C | CA404888728 | COMP | c.1005C>G (p.Asp335Glu) c.846C>G (p.Asp282Glu) c.906C>G (p.Asp302Glu) | |
19 | g.18787621G>T | CA404888731 | COMP | c.1005C>A (p.Asp335Glu) c.846C>A (p.Asp282Glu) c.906C>A (p.Asp302Glu) | |
19 | g.18787622T>A | CA404888732 | COMP | c.1004A>T (p.Asp335Val) c.845A>T (p.Asp282Val) c.905A>T (p.Asp302Val) | |
19 | g.18787622T>C | CA404888736 | COMP | c.1004A>G (p.Asp335Gly) c.845A>G (p.Asp282Gly) c.905A>G (p.Asp302Gly) | |
19 | g.18787622T>G | CA404888734 | COMP | c.1004A>C (p.Asp335Ala) c.845A>C (p.Asp282Ala) c.905A>C (p.Asp302Ala) | gnomAD v4 |
19 | g.18787623C>A | CA404888741 | COMP | c.1003G>T (p.Asp335Tyr) c.844G>T (p.Asp282Tyr) c.904G>T (p.Asp302Tyr) | COSMIC |
19 | g.18787623C>G | CA404888745 | COMP | c.1003G>C (p.Asp335His) c.844G>C (p.Asp282His) c.904G>C (p.Asp302His) | |
19 | g.18787623C>T | CA404888743 | COMP | c.1003G>A (p.Asp335Asn) c.844G>A (p.Asp282Asn) c.904G>A (p.Asp302Asn) | |
19 | g.18787624T>A | CA506053115 | COMP | c.1002A>T (p.Pro334=) c.843A>T (p.Pro281=) c.903A>T (p.Pro301=) | |
19 | g.18787624T>C | CA506053113 | COMP | c.1002A>G (p.Pro334=) c.843A>G (p.Pro281=) c.903A>G (p.Pro301=) | dbSNP |
19 | g.18787624T>G | CA506053114 | COMP | c.1002A>C (p.Pro334=) c.843A>C (p.Pro281=) c.903A>C (p.Pro301=) | gnomAD v4 |
19 | g.18787624T= | CA2326526142 | COMP | c.1002A= (p.Pro334=) c.843A= (p.Pro281=) c.903A= (p.Pro301=) | |
19 | g.18787625G>A | CA404888748 | COMP | c.1001C>T (p.Pro334Leu) c.842C>T (p.Pro281Leu) c.902C>T (p.Pro301Leu) | |
19 | g.18787625G>C | CA404888763 | COMP | c.1001C>G (p.Pro334Arg) c.842C>G (p.Pro281Arg) c.902C>G (p.Pro301Arg) | |
19 | g.18787625G>T | CA404888759 | COMP | c.1001C>A (p.Pro334Gln) c.842C>A (p.Pro281Gln) c.902C>A (p.Pro301Gln) | |
19 | g.18787626G>A | CA404888766 | COMP | c.1000C>T (p.Pro334Ser) c.841C>T (p.Pro281Ser) c.901C>T (p.Pro301Ser) | |
19 | g.18787626G>C | CA404888770 | COMP | c.1000C>G (p.Pro334Ala) c.841C>G (p.Pro281Ala) c.901C>G (p.Pro301Ala) | |
19 | g.18787626G>T | CA404888767 | COMP | c.1000C>A (p.Pro334Thr) c.841C>A (p.Pro281Thr) c.901C>A (p.Pro301Thr) | gnomAD v4 |
19 | g.18787627G>A | CA506053116 | COMP | c.999C>T (p.Asn333=) c.840C>T (p.Asn280=) c.900C>T (p.Asn300=) | |
19 | g.18787627G>C | CA404888773 | COMP | c.999C>G (p.Asn333Lys) c.840C>G (p.Asn280Lys) c.900C>G (p.Asn300Lys) | |
19 | g.18787627G>T | CA404888774 | COMP | c.999C>A (p.Asn333Lys) c.840C>A (p.Asn280Lys) c.900C>A (p.Asn300Lys) | |
19 | g.18787628T>A | CA404888776 | COMP | c.998A>T (p.Asn333Ile) c.839A>T (p.Asn280Ile) c.899A>T (p.Asn300Ile) | |
19 | g.18787628T>C | CA404888778 | COMP | c.998A>G (p.Asn333Ser) c.839A>G (p.Asn280Ser) c.899A>G (p.Asn300Ser) | |
19 | g.18787628T>G | CA404888781 | COMP | c.998A>C (p.Asn333Thr) c.839A>C (p.Asn280Thr) c.899A>C (p.Asn300Thr) | |
19 | g.18787629T>A | CA404888782 | COMP | c.997A>T (p.Asn333Tyr) c.838A>T (p.Asn280Tyr) c.898A>T (p.Asn300Tyr) | |
19 | g.18787629T>C | CA404888783 | COMP | c.997A>G (p.Asn333Asp) c.838A>G (p.Asn280Asp) c.898A>G (p.Asn300Asp) | |
19 | g.18787629T>G | CA404888785 | COMP | c.997A>C (p.Asn333His) c.838A>C (p.Asn280His) c.898A>C (p.Asn300His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787629T= | CA2326526145 | COMP | c.997A= (p.Asn333=) c.838A= (p.Asn280=) c.898A= (p.Asn300=) | |
19 | g.18787630C>A | CA506053117 | COMP | c.996G>T (p.Arg332=) c.837G>T (p.Arg279=) c.897G>T (p.Arg299=) | |
19 | g.18787630C>G | CA506053118 | COMP | c.996G>C (p.Arg332=) c.837G>C (p.Arg279=) c.897G>C (p.Arg299=) | gnomAD v4 |
19 | g.18787630C>T | CA506053119 | COMP | c.996G>A (p.Arg332=) c.837G>A (p.Arg279=) c.897G>A (p.Arg299=) | |
19 | g.18787631C>A | CA404888791 | COMP | c.995G>T (p.Arg332Leu) c.836G>T (p.Arg279Leu) c.896G>T (p.Arg299Leu) | gnomAD v4 |
19 | g.18787631C= | CA2326526149 | COMP | c.995G= (p.Arg332=) c.836G= (p.Arg279=) c.896G= (p.Arg299=) | |
19 | g.18787631C>G | CA404888794 | COMP | c.995G>C (p.Arg332Pro) c.836G>C (p.Arg279Pro) c.896G>C (p.Arg299Pro) | |
19 | g.18787631C>T | CA306256718 | COMP | c.995G>A (p.Arg332Gln) c.836G>A (p.Arg279Gln) c.896G>A (p.Arg299Gln) | dbSNP gnomAD v4 |
19 | g.18787632G>A | CA306256723 | COMP | c.994C>T (p.Arg332Trp) c.835C>T (p.Arg279Trp) c.895C>T (p.Arg299Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787632G>C | CA404888805 | COMP | c.994C>G (p.Arg332Gly) c.835C>G (p.Arg279Gly) c.895C>G (p.Arg299Gly) | |
19 | g.18787632G= | CA2326526157 | COMP | c.994C= (p.Arg332=) c.835C= (p.Arg279=) c.895C= (p.Arg299=) | |
19 | g.18787632G>T | CA9316560 | COMP | c.994C>A (p.Arg332=) c.835C>A (p.Arg279=) c.895C>A (p.Arg299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787633C>A | CA506053120 | COMP | c.993G>T (p.Val331=) c.834G>T (p.Val278=) c.894G>T (p.Val298=) | |
19 | g.18787633C>G | CA506053121 | COMP | c.993G>C (p.Val331=) c.834G>C (p.Val278=) c.894G>C (p.Val298=) | |
19 | g.18787633C>T | CA506053122 | COMP | c.993G>A (p.Val331=) c.834G>A (p.Val278=) c.894G>A (p.Val298=) | |
19 | g.18787634del | CA2582001305 | COMP | c.992del (p.Val331GlyfsTer?) c.833del (p.Val278GlyfsTer?) c.893del (p.Val298GlyfsTer?) | gnomAD v3 gnomAD v4 |
19 | g.18787634A= | CA2326526163 | COMP | c.992T= (p.Val331=) c.833T= (p.Val278=) c.893T= (p.Val298=) | |
19 | g.18787634A>C | CA404890313 | COMP | c.992T>G (p.Val331Gly) c.833T>G (p.Val278Gly) c.893T>G (p.Val298Gly) | |
19 | g.18787634A>G | CA404890317 | COMP | c.992T>C (p.Val331Ala) c.833T>C (p.Val278Ala) c.893T>C (p.Val298Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787634A>T | CA404890321 | COMP | c.992T>A (p.Val331Glu) c.833T>A (p.Val278Glu) c.893T>A (p.Val298Glu) | |
19 | g.18787635C>A | CA404890324 | COMP | c.991G>T (p.Val331Leu) c.832G>T (p.Val278Leu) c.892G>T (p.Val298Leu) | |
19 | g.18787635C>G | CA404890325 | COMP | c.991G>C (p.Val331Leu) c.832G>C (p.Val278Leu) c.892G>C (p.Val298Leu) | |
19 | g.18787635C>T | CA404890329 | COMP | c.991G>A (p.Val331Met) c.832G>A (p.Val278Met) c.892G>A (p.Val298Met) | gnomAD v3 gnomAD v4 |
19 | g.18787636C>A | CA506053123 | COMP | c.990G>T (p.Leu330=) c.831G>T (p.Leu277=) c.891G>T (p.Leu297=) | |
19 | g.18787636C= | CA2326526166 | COMP | c.990G= (p.Leu330=) c.831G= (p.Leu277=) c.891G= (p.Leu297=) | |
19 | g.18787636C>G | CA506053124 | COMP | c.990G>C (p.Leu330=) c.831G>C (p.Leu277=) c.891G>C (p.Leu297=) | |
19 | g.18787636C>T | CA506053125 | COMP | c.990G>A (p.Leu330=) c.831G>A (p.Leu277=) c.891G>A (p.Leu297=) | dbSNP gnomAD v4 |
19 | g.18787637A= | CA2326526170 | COMP | c.989T= (p.Leu330=) c.830T= (p.Leu277=) c.890T= (p.Leu297=) | |
19 | g.18787637A>C | CA404890335 | COMP | c.989T>G (p.Leu330Arg) c.830T>G (p.Leu277Arg) c.890T>G (p.Leu297Arg) | |
19 | g.18787637A>G | CA404890341 | COMP | c.989T>C (p.Leu330Pro) c.830T>C (p.Leu277Pro) c.890T>C (p.Leu297Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787637A>T | CA404890348 | COMP | c.989T>A (p.Leu330Gln) c.830T>A (p.Leu277Gln) c.890T>A (p.Leu297Gln) | |
19 | g.18787638G>A | CA506053126 | COMP | c.988C>T (p.Leu330=) c.829C>T (p.Leu277=) c.889C>T (p.Leu297=) | COSMIC |
19 | g.18787638G>C | CA404890356 | COMP | c.988C>G (p.Leu330Val) c.829C>G (p.Leu277Val) c.889C>G (p.Leu297Val) | ClinVar gnomAD v4 |
19 | g.18787638G>T | CA404890360 | COMP | c.988C>A (p.Leu330Met) c.829C>A (p.Leu277Met) c.889C>A (p.Leu297Met) | |
19 | g.18787640_18787643del | CA2695228443 | COMP | c.985_988del (p.Pro329TrpfsTer?) c.826_829del (p.Pro276TrpfsTer?) c.886_889del (p.Pro296TrpfsTer?) | |
19 | g.18787639C>A | CA506053127 | COMP | c.987G>T (p.Pro329=) c.828G>T (p.Pro276=) c.888G>T (p.Pro296=) | |
19 | g.18787639C= | CA2326526174 | COMP | c.987G= (p.Pro329=) c.828G= (p.Pro276=) c.888G= (p.Pro296=) | |
19 | g.18787639C>G | CA506053128 | COMP | c.987G>C (p.Pro329=) c.828G>C (p.Pro276=) c.888G>C (p.Pro296=) | |
19 | g.18787639C>T | CA506053129 | COMP | c.987G>A (p.Pro329=) c.828G>A (p.Pro276=) c.888G>A (p.Pro296=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787640G>A | CA404890373 | COMP | c.986C>T (p.Pro329Leu) c.827C>T (p.Pro276Leu) c.887C>T (p.Pro296Leu) | |
19 | g.18787640G>C | CA404890378 | COMP | c.986C>G (p.Pro329Arg) c.827C>G (p.Pro276Arg) c.887C>G (p.Pro296Arg) | |
19 | g.18787640G>T | CA404890368 | COMP | c.986C>A (p.Pro329Gln) c.827C>A (p.Pro276Gln) c.887C>A (p.Pro296Gln) | |
19 | g.18787641G>A | CA404890382 | COMP | c.985C>T (p.Pro329Ser) c.826C>T (p.Pro276Ser) c.886C>T (p.Pro296Ser) | |
19 | g.18787641G>C | CA404890405 | COMP | c.985C>G (p.Pro329Ala) c.826C>G (p.Pro276Ala) c.886C>G (p.Pro296Ala) | |
19 | g.18787641G>T | CA404890411 | COMP | c.985C>A (p.Pro329Thr) c.826C>A (p.Pro276Thr) c.886C>A (p.Pro296Thr) | |
19 | g.18787642G>A | CA506053130 | COMP | c.984C>T (p.Cys328=) c.825C>T (p.Cys275=) c.885C>T (p.Cys295=) | |
19 | g.18787642G>C | CA404890417 | COMP | c.984C>G (p.Cys328Trp) c.825C>G (p.Cys275Trp) c.885C>G (p.Cys295Trp) | ClinVar dbSNP |
19 | g.18787642G= | CA2326526177 | COMP | c.984C= (p.Cys328=) c.825C= (p.Cys275=) c.885C= (p.Cys295=) | |
19 | g.18787642G>T | CA404890419 | COMP | c.984C>A (p.Cys328Ter) c.825C>A (p.Cys275Ter) c.885C>A (p.Cys295Ter) | |
19 | g.18787643C>A | CA404890434 | COMP | c.983G>T (p.Cys328Phe) c.824G>T (p.Cys275Phe) c.884G>T (p.Cys295Phe) | ClinVar dbSNP |
19 | g.18787643C>G | CA404890422 | COMP | c.983G>C (p.Cys328Ser) c.824G>C (p.Cys275Ser) c.884G>C (p.Cys295Ser) | |
19 | g.18787643C>T | CA404890430 | COMP | c.983G>A (p.Cys328Tyr) c.824G>A (p.Cys275Tyr) c.884G>A (p.Cys295Tyr) | ClinVar |
19 | g.18787644A= | CA2326526182 | COMP | c.982T= (p.Cys328=) c.823T= (p.Cys275=) c.883T= (p.Cys295=) | |
19 | g.18787644A>C | CA404890440 | COMP | c.982T>G (p.Cys328Gly) c.823T>G (p.Cys275Gly) c.883T>G (p.Cys295Gly) | |
19 | g.18787644A>G | CA254702 | COMP | c.982T>C (p.Cys328Arg) c.823T>C (p.Cys275Arg) c.883T>C (p.Cys295Arg) | ClinVar dbSNP |
19 | g.18787644A>T | CA404890451 | COMP | c.982T>A (p.Cys328Ser) c.823T>A (p.Cys275Ser) c.883T>A (p.Cys295Ser) | |
19 | g.18787645G>A | CA506053131 | COMP | c.981C>T (p.Asn327=) c.822C>T (p.Asn274=) c.882C>T (p.Asn294=) | dbSNP |
19 | g.18787645G>C | CA404890456 | COMP | c.981C>G (p.Asn327Lys) c.822C>G (p.Asn274Lys) c.882C>G (p.Asn294Lys) | |
19 | g.18787645G>T | CA404890459 | COMP | c.981C>A (p.Asn327Lys) c.822C>A (p.Asn274Lys) c.882C>A (p.Asn294Lys) | |
19 | g.18787646T>A | CA404890468 | COMP | c.980A>T (p.Asn327Ile) c.821A>T (p.Asn274Ile) c.881A>T (p.Asn294Ile) | |
19 | g.18787646T>C | CA404890482 | COMP | c.980A>G (p.Asn327Ser) c.821A>G (p.Asn274Ser) c.881A>G (p.Asn294Ser) | gnomAD v4 |
19 | g.18787646T>G | CA404890474 | COMP | c.980A>C (p.Asn327Thr) c.821A>C (p.Asn274Thr) c.881A>C (p.Asn294Thr) | |
19 | g.18787647T>A | CA404890489 | COMP | c.979A>T (p.Asn327Tyr) c.820A>T (p.Asn274Tyr) c.880A>T (p.Asn294Tyr) | |
19 | g.18787647T>C | CA404890494 | COMP | c.979A>G (p.Asn327Asp) c.820A>G (p.Asn274Asp) c.880A>G (p.Asn294Asp) | gnomAD v4 |
19 | g.18787647T>G | CA404890498 | COMP | c.979A>C (p.Asn327His) c.820A>C (p.Asn274His) c.880A>C (p.Asn294His) | |
19 | g.18787648G>A | CA506053132 | COMP | c.978C>T (p.Asp326=) c.819C>T (p.Asp273=) c.879C>T (p.Asp293=) | dbSNP gnomAD v4 |
19 | g.18787648G>C | CA404890520 | COMP | c.978C>G (p.Asp326Glu) c.819C>G (p.Asp273Glu) c.879C>G (p.Asp293Glu) | |
19 | g.18787648G= | CA2326526186 | COMP | c.978C= (p.Asp326=) c.819C= (p.Asp273=) c.879C= (p.Asp293=) | |
19 | g.18787648G>T | CA404890527 | COMP | c.978C>A (p.Asp326Glu) c.819C>A (p.Asp273Glu) c.879C>A (p.Asp293Glu) | |
19 | g.18787649T>A | CA404890535 | COMP | c.977A>T (p.Asp326Val) c.818A>T (p.Asp273Val) c.878A>T (p.Asp293Val) | |
19 | g.18787649T>C | CA404890539 | COMP | c.977A>G (p.Asp326Gly) c.818A>G (p.Asp273Gly) c.878A>G (p.Asp293Gly) | |
19 | g.18787649T>G | CA404890542 | COMP | c.977A>C (p.Asp326Ala) c.818A>C (p.Asp273Ala) c.878A>C (p.Asp293Ala) | |
19 | g.18787650C>A | CA404890548 | COMP | c.976G>T (p.Asp326Tyr) c.817G>T (p.Asp273Tyr) c.877G>T (p.Asp293Tyr) | |
19 | g.18787650C>G | CA404890554 | COMP | c.976G>C (p.Asp326His) c.817G>C (p.Asp273His) c.877G>C (p.Asp293His) | |
19 | g.18787650C>T | CA404890558 | COMP | c.976G>A (p.Asp326Asn) c.817G>A (p.Asp273Asn) c.877G>A (p.Asp293Asn) | ClinVar dbSNP |
19 | g.18787651C>A | CA404890566 | COMP | c.976-1G>T (n.976-1G>T) c.817-1G>T (n.817-1G>T) c.877-1G>T (n.877-1G>T) | |
19 | g.18787651C>G | CA404890570 | COMP | c.976-1G>C (n.976-1G>C) c.817-1G>C (n.817-1G>C) c.877-1G>C (n.877-1G>C) | gnomAD v4 |
19 | g.18787651C>T | CA404890562 | COMP | c.976-1G>A (n.976-1G>A) c.817-1G>A (n.817-1G>A) c.877-1G>A (n.877-1G>A) | gnomAD v4 |
19 | g.18787652T>A | CA404890574 | COMP | c.976-2A>T (n.976-2A>T) c.817-2A>T (n.817-2A>T) c.877-2A>T (n.877-2A>T) | |
19 | g.18787652T>C | CA404890578 | COMP | c.976-2A>G (n.976-2A>G) c.817-2A>G (n.817-2A>G) c.877-2A>G (n.877-2A>G) | |
19 | g.18787652T>G | CA404890581 | COMP | c.976-2A>C (n.976-2A>C) c.817-2A>C (n.817-2A>C) c.877-2A>C (n.877-2A>C) | |
19 | g.18787653G>T | CA645610811 | COMP | c.976-3C>A (n.976-3C>A) c.817-3C>A (n.817-3C>A) c.877-3C>A (n.877-3C>A) | COSMIC |
19 | g.18787654G>A | CA306256738 | COMP | c.976-4C>T (n.976-4C>T) c.817-4C>T (n.817-4C>T) c.877-4C>T (n.877-4C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787654G= | CA2326526189 | COMP | c.976-4C= (n.976-4C=) c.817-4C= (n.817-4C=) c.877-4C= (n.877-4C=) | |
19 | g.18787656T>C | CA2837066646 | COMP | c.976-6A>G (n.976-6A>G) c.817-6A>G (n.817-6A>G) c.877-6A>G (n.877-6A>G) | |
19 | g.18787659C>G | CA2813847477 | COMP | c.976-9G>C (n.976-9G>C) c.817-9G>C (n.817-9G>C) c.877-9G>C (n.877-9G>C) | |
19 | g.18787659C>T | CA2583622634 | COMP | c.976-9G>A (n.976-9G>A) c.817-9G>A (n.817-9G>A) c.877-9G>A (n.877-9G>A) | gnomAD v4 |
19 | g.18787661G>T | CA2842543213 | COMP | c.976-11C>A (n.976-11C>A) c.817-11C>A (n.817-11C>A) c.877-11C>A (n.877-11C>A) | |
19 | g.18787662G>C | CA2583622635 | COMP | c.976-12C>G (n.976-12C>G) c.817-12C>G (n.817-12C>G) c.877-12C>G (n.877-12C>G) | gnomAD v4 |
19 | g.18787662G= | CA2326526191 | COMP | c.976-12C= (n.976-12C=) c.817-12C= (n.817-12C=) c.877-12C= (n.877-12C=) | |
19 | g.18787662G>T | CA632375737 | COMP | c.976-12C>A (n.976-12C>A) c.817-12C>A (n.817-12C>A) c.877-12C>A (n.877-12C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787663G>A | CA2326526195 | COMP | c.976-13C>T (n.976-13C>T) c.817-13C>T (n.817-13C>T) c.877-13C>T (n.877-13C>T) | dbSNP |
19 | g.18787663G= | CA2326526193 | COMP | c.976-13C= (n.976-13C=) c.817-13C= (n.817-13C=) c.877-13C= (n.877-13C=) | |
19 | g.18787663G>T | CA2583622636 | COMP | c.976-13C>A (n.976-13C>A) c.817-13C>A (n.817-13C>A) c.877-13C>A (n.877-13C>A) | gnomAD v4 |
19 | g.18787665G>T | CA657075345 | COMP | c.976-15C>A (n.976-15C>A) c.817-15C>A (n.817-15C>A) c.877-15C>A (n.877-15C>A) | COSMIC |
19 | g.18787665_18787681dup | CA2583622637 | COMP | c.976-31_976-15dup (n.976-31_976-15dup) c.817-31_817-15dup (n.817-31_817-15dup) c.877-31_877-15dup (n.877-31_877-15dup) | gnomAD v4 |
19 | g.18787667G>A | CA994237334 | COMP | c.976-17C>T (n.976-17C>T) c.817-17C>T (n.817-17C>T) c.877-17C>T (n.877-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787667G= | CA2326526196 | COMP | c.976-17C= (n.976-17C=) c.817-17C= (n.817-17C=) c.877-17C= (n.877-17C=) | |
19 | g.18787668T>C | CA2583622638 | COMP | c.976-18A>G (n.976-18A>G) c.817-18A>G (n.817-18A>G) c.877-18A>G (n.877-18A>G) | gnomAD v4 |
19 | g.18787672G>T | CA2583622639 | COMP | c.976-22C>A (n.976-22C>A) c.817-22C>A (n.817-22C>A) c.877-22C>A (n.877-22C>A) | gnomAD v4 |
19 | g.18787673G>A | CA9316561 | COMP | c.976-23C>T (n.976-23C>T) c.817-23C>T (n.817-23C>T) c.877-23C>T (n.877-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787673G= | CA2326526199 | COMP | c.976-23C= (n.976-23C=) c.817-23C= (n.817-23C=) c.877-23C= (n.877-23C=) | |
19 | g.18787674G>T | CA2583622640 | COMP | c.976-24C>A (n.976-24C>A) c.817-24C>A (n.817-24C>A) c.877-24C>A (n.877-24C>A) | gnomAD v4 |
19 | g.18787676G>A | CA9316562 | COMP | c.976-26C>T (n.976-26C>T) c.817-26C>T (n.817-26C>T) c.877-26C>T (n.877-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787676G= | CA2326526203 | COMP | c.976-26C= (n.976-26C=) c.817-26C= (n.817-26C=) c.877-26C= (n.877-26C=) | |
19 | g.18787676G>T | CA2583622641 | COMP | c.976-26C>A (n.976-26C>A) c.817-26C>A (n.817-26C>A) c.877-26C>A (n.877-26C>A) | gnomAD v4 |
19 | g.18787677A= | CA2326526205 | COMP | c.976-27T= (n.976-27T=) c.817-27T= (n.817-27T=) c.877-27T= (n.877-27T=) | |
19 | g.18787677A>T | CA2583622643 | COMP | c.976-27T>A (n.976-27T>A) c.817-27T>A (n.817-27T>A) c.877-27T>A (n.877-27T>A) | gnomAD v4 |
19 | g.18787679_18787692del | CA2583622642 | COMP | c.976-40_976-27del (n.976-40_976-27del) c.817-40_817-27del (n.817-40_817-27del) c.877-40_877-27del (n.877-40_877-27del) | gnomAD v4 |
19 | g.18787678G= | CA2326526208 | COMP | c.976-28C= (n.976-28C=) c.817-28C= (n.817-28C=) c.877-28C= (n.877-28C=) | |
19 | g.18787678_18787680dup | CA306256760 | COMP | c.976-30_976-28dup (n.976-30_976-28dup) c.817-30_817-28dup (n.817-30_817-28dup) c.877-30_877-28dup (n.877-30_877-28dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787679A= | CA2326526211 | COMP | c.976-29T= (n.976-29T=) c.817-29T= (n.817-29T=) c.877-29T= (n.877-29T=) | |
19 | g.18787679A>G | CA632375738 | COMP | c.976-29T>C (n.976-29T>C) c.817-29T>C (n.817-29T>C) c.877-29T>C (n.877-29T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787679dup | CA9316563 | COMP | c.976-29dup (n.976-29dup) c.817-29dup (n.817-29dup) c.877-29dup (n.877-29dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787681_18787690delinsCAGGTCGAGA | CA2326526213 | COMP | c.976-40_976-31delinsTCTCGACCTG (n.976-40_976-31delinsTCTCGACCTG) c.817-40_817-31delinsTCTCGACCTG (n.817-40_817-31delinsTCTCGACCTG) c.877-40_877-31delinsTCTCGACCTG (n.877-40_877-31delinsTCTCGACCTG) | |
19 | g.18787682A= | CA2326526216 | COMP | c.976-32T= (n.976-32T=) c.817-32T= (n.817-32T=) c.877-32T= (n.877-32T=) | |
19 | g.18787682A>C | CA783973268 | COMP | c.976-32T>G (n.976-32T>G) c.817-32T>G (n.817-32T>G) c.877-32T>G (n.877-32T>G) | dbSNP |
19 | g.18787682A>G | CA2583622644 | COMP | c.976-32T>C (n.976-32T>C) c.817-32T>C (n.817-32T>C) c.877-32T>C (n.877-32T>C) | gnomAD v4 |
19 | g.18787685_18787693del | CA994237342 | COMP | c.976-40_976-32del (n.976-40_976-32del) c.817-40_817-32del (n.817-40_817-32del) c.877-40_877-32del (n.877-40_877-32del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787683G>A | CA2583622645 | COMP | c.976-33C>T (n.976-33C>T) c.817-33C>T (n.817-33C>T) c.877-33C>T (n.877-33C>T) | gnomAD v4 |
19 | g.18787683G>T | CA2583622646 | COMP | c.976-33C>A (n.976-33C>A) c.817-33C>A (n.817-33C>A) c.877-33C>A (n.877-33C>A) | gnomAD v4 |
19 | g.18787684G>A | CA2583622647 | COMP | c.976-34C>T (n.976-34C>T) c.817-34C>T (n.817-34C>T) c.877-34C>T (n.877-34C>T) | gnomAD v4 |
19 | g.18787684G>C | CA2583622648 | COMP | c.976-34C>G (n.976-34C>G) c.817-34C>G (n.817-34C>G) c.877-34C>G (n.877-34C>G) | gnomAD v4 |
19 | g.18787685T>G | CA632375739 | COMP | c.976-35A>C (n.976-35A>C) c.817-35A>C (n.817-35A>C) c.877-35A>C (n.877-35A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787685T= | CA2326526219 | COMP | c.976-35A= (n.976-35A=) c.817-35A= (n.817-35A=) c.877-35A= (n.877-35A=) | |
19 | g.18787686C>A | CA2583622649 | COMP | c.976-36G>T (n.976-36G>T) c.817-36G>T (n.817-36G>T) c.877-36G>T (n.877-36G>T) | gnomAD v4 |
19 | g.18787687G>T | CA2583622650 | COMP | c.976-37C>A (n.976-37C>A) c.817-37C>A (n.817-37C>A) c.877-37C>A (n.877-37C>A) | gnomAD v4 |
19 | g.18787689G>T | CA2583622651 | COMP | c.976-39C>A (n.976-39C>A) c.817-39C>A (n.817-39C>A) c.877-39C>A (n.877-39C>A) | gnomAD v4 |
19 | g.18787690A= | CA2326526222 | COMP | c.976-40T= (n.976-40T=) c.817-40T= (n.817-40T=) c.877-40T= (n.877-40T=) | |
19 | g.18787690A>T | CA994237348 | COMP | c.976-40T>A (n.976-40T>A) c.817-40T>A (n.817-40T>A) c.877-40T>A (n.877-40T>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787691A= | CA2326526226 | COMP | c.976-41T= (n.976-41T=) c.817-41T= (n.817-41T=) c.877-41T= (n.877-41T=) | |
19 | g.18787691A>C | CA2326526227 | COMP | c.976-41T>G (n.976-41T>G) c.817-41T>G (n.817-41T>G) c.877-41T>G (n.877-41T>G) | dbSNP |
19 | g.18787691_18787692delinsAG | CA2326526225 | COMP | c.976-42_976-41delinsCT (n.976-42_976-41delinsCT) c.817-42_817-41delinsCT (n.817-42_817-41delinsCT) c.877-42_877-41delinsCT (n.877-42_877-41delinsCT) | |
19 | g.18787693del | CA632375740 | COMP | c.976-42del (n.976-42del) c.817-42del (n.817-42del) c.877-42del (n.877-42del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787693G>A | CA306256789 | COMP | c.976-43C>T (n.976-43C>T) c.817-43C>T (n.817-43C>T) c.877-43C>T (n.877-43C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787693G= | CA2326526229 | COMP | c.976-43C= (n.976-43C=) c.817-43C= (n.817-43C=) c.877-43C= (n.877-43C=) | |
19 | g.18787693G>T | CA2583622652 | COMP | c.976-43C>A (n.976-43C>A) c.817-43C>A (n.817-43C>A) c.877-43C>A (n.877-43C>A) | gnomAD v4 |
19 | g.18787694C>A | CA2583622653 | COMP | c.976-44G>T (n.976-44G>T) c.817-44G>T (n.817-44G>T) c.877-44G>T (n.877-44G>T) | gnomAD v4 |
19 | g.18787697del | CA2583622654 | COMP | c.976-45del (n.976-45del) c.817-45del (n.817-45del) c.877-45del (n.877-45del) | gnomAD v4 |
19 | g.18787698G>A | CA632375741 | COMP | c.976-48C>T (n.976-48C>T) c.817-48C>T (n.817-48C>T) c.877-48C>T (n.877-48C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18787698G>C | CA2583622655 | COMP | c.976-48C>G (n.976-48C>G) c.817-48C>G (n.817-48C>G) c.877-48C>G (n.877-48C>G) | gnomAD v4 |
19 | g.18787698G= | CA2326526232 | COMP | c.976-48C= (n.976-48C=) c.817-48C= (n.817-48C=) c.877-48C= (n.877-48C=) | |
19 | g.18787698G>T | CA2583622656 | COMP | c.976-48C>A (n.976-48C>A) c.817-48C>A (n.817-48C>A) c.877-48C>A (n.877-48C>A) | gnomAD v4 |
19 | g.18787699G>T | CA2583622657 | COMP | c.976-49C>A (n.976-49C>A) c.817-49C>A (n.817-49C>A) c.877-49C>A (n.877-49C>A) | gnomAD v4 |
19 | g.18787700T>A | CA2838921493 | COMP | c.976-50A>T (n.976-50A>T) c.817-50A>T (n.817-50A>T) c.877-50A>T (n.877-50A>T) | |
19 | g.18787701C>A | CA2583622658 | COMP | c.976-51G>T (n.976-51G>T) c.817-51G>T (n.817-51G>T) c.877-51G>T (n.877-51G>T) | gnomAD v4 |
19 | g.18787703C>A | CA2583622659 | COMP | c.976-53G>T (n.976-53G>T) c.817-53G>T (n.817-53G>T) c.877-53G>T (n.877-53G>T) | gnomAD v4 |
19 | g.18787704A>G | CA2541771513 | COMP | c.976-54T>C (n.976-54T>C) c.817-54T>C (n.817-54T>C) c.877-54T>C (n.877-54T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787705C>A | CA2583622660 | COMP | c.976-55G>T (n.976-55G>T) c.817-55G>T (n.817-55G>T) c.877-55G>T (n.877-55G>T) | gnomAD v4 |
19 | g.18787705C>G | CA2583622661 | COMP | c.976-55G>C (n.976-55G>C) c.817-55G>C (n.817-55G>C) c.877-55G>C (n.877-55G>C) | gnomAD v4 |
19 | g.18787706T>C | CA2838921490 | COMP | c.976-56A>G (n.976-56A>G) c.817-56A>G (n.817-56A>G) c.877-56A>G (n.877-56A>G) | |
19 | g.18787707C>A | CA2583622662 | COMP | c.976-57G>T (n.976-57G>T) c.817-57G>T (n.817-57G>T) c.877-57G>T (n.877-57G>T) | gnomAD v4 |
19 | g.18787707C>T | CA2583622663 | COMP | c.976-57G>A (n.976-57G>A) c.817-57G>A (n.817-57G>A) c.877-57G>A (n.877-57G>A) | gnomAD v4 |
19 | g.18787708C= | CA2326526234 | COMP | c.976-58G= (n.976-58G=) c.817-58G= (n.817-58G=) c.877-58G= (n.877-58G=) | |
19 | g.18787708C>T | CA306256790 | COMP | c.976-58G>A (n.976-58G>A) c.817-58G>A (n.817-58G>A) c.877-58G>A (n.877-58G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787709T>C | CA2583622664 | COMP | c.976-59A>G (n.976-59A>G) c.817-59A>G (n.817-59A>G) c.877-59A>G (n.877-59A>G) | gnomAD v4 |
19 | g.18787710C>A | CA2576725852 | COMP | c.976-60G>T (n.976-60G>T) c.817-60G>T (n.817-60G>T) c.877-60G>T (n.877-60G>T) | |
19 | g.18787710C= | CA2326526236 | COMP | c.976-60G= (n.976-60G=) c.817-60G= (n.817-60G=) c.877-60G= (n.877-60G=) | |
19 | g.18787710C>T | CA2326526239 | COMP | c.976-60G>A (n.976-60G>A) c.817-60G>A (n.817-60G>A) c.877-60G>A (n.877-60G>A) | dbSNP |
19 | g.18787711A= | CA2326526241 | COMP | c.976-61T= (n.976-61T=) c.817-61T= (n.817-61T=) c.877-61T= (n.877-61T=) | |
19 | g.18787711A>G | CA994237352 | COMP | c.976-61T>C (n.976-61T>C) c.817-61T>C (n.817-61T>C) c.877-61T>C (n.877-61T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787712G>A | CA2326526244 | COMP | c.976-62C>T (n.976-62C>T) c.817-62C>T (n.817-62C>T) c.877-62C>T (n.877-62C>T) | dbSNP gnomAD v4 |
19 | g.18787712G>C | CA632375742 | COMP | c.976-62C>G (n.976-62C>G) c.817-62C>G (n.817-62C>G) c.877-62C>G (n.877-62C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18787712G= | CA2326526243 | COMP | c.976-62C= (n.976-62C=) c.817-62C= (n.817-62C=) c.877-62C= (n.877-62C=) | |
19 | g.18787712G>T | CA2583622665 | COMP | c.976-62C>A (n.976-62C>A) c.817-62C>A (n.817-62C>A) c.877-62C>A (n.877-62C>A) | gnomAD v4 |
19 | g.18787715_18787716delinsTC | CA2326526246 | COMP | c.976-66_976-65delinsGA (n.976-66_976-65delinsGA) c.817-66_817-65delinsGA (n.817-66_817-65delinsGA) c.877-66_877-65delinsGA (n.877-66_877-65delinsGA) | |
19 | g.18787716C>A | CA2583622666 | COMP | c.976-66G>T (n.976-66G>T) c.817-66G>T (n.817-66G>T) c.877-66G>T (n.877-66G>T) | gnomAD v4 |
19 | g.18787718del | CA783973271 | COMP | c.976-66del (n.976-66del) c.817-66del (n.817-66del) c.877-66del (n.877-66del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18787717C>A | CA2838921500 | COMP | c.976-67G>T (n.976-67G>T) c.817-67G>T (n.817-67G>T) c.877-67G>T (n.877-67G>T) | |
19 | g.18787717C>T | CA2583622667 | COMP | c.976-67G>A (n.976-67G>A) c.817-67G>A (n.817-67G>A) c.877-67G>A (n.877-67G>A) | gnomAD v4 |
19 | g.18787718C>A | CA2583622668 | COMP | c.976-68G>T (n.976-68G>T) c.817-68G>T (n.817-68G>T) c.877-68G>T (n.877-68G>T) | gnomAD v4 |
19 | g.18787719_18788271del | CA2573156204 | COMP | c.917_976-68del c.758_817-68del c.818_877-68del | ClinVar dbSNP |