Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.150844136A>C | CA358450556 | LRBA | c.4533T>G (p.Asp1511Glu) n.2860T>G c.2247T>G (p.Asp749Glu) c.264T>G (p.Asp88Glu) c.491T>G | |
4 | g.150844136A>G | CA441758237 | LRBA | c.4533T>C (p.Asp1511=) n.2860T>C c.2247T>C (p.Asp749=) c.264T>C (p.Asp88=) c.491T>C | |
4 | g.150844136A>T | CA358450557 | LRBA | c.4533T>A (p.Asp1511Glu) n.2860T>A c.2247T>A (p.Asp749Glu) c.264T>A (p.Asp88Glu) c.491T>A | |
4 | g.150844137T>A | CA358450558 | LRBA | c.4532A>T (p.Asp1511Val) n.2859A>T c.2246A>T (p.Asp749Val) c.263A>T (p.Asp88Val) c.490A>T | |
4 | g.150844137T>C | CA358450560 | LRBA | c.4532A>G (p.Asp1511Gly) n.2859A>G c.2246A>G (p.Asp749Gly) c.263A>G (p.Asp88Gly) c.490A>G | |
4 | g.150844137T>G | CA358450559 | LRBA | c.4532A>C (p.Asp1511Ala) n.2859A>C c.2246A>C (p.Asp749Ala) c.263A>C (p.Asp88Ala) c.490A>C | COSMIC |
4 | g.150844138C>A | CA358450561 | LRBA | c.4531G>T (p.Asp1511Tyr) n.2858G>T c.2245G>T (p.Asp749Tyr) c.262G>T (p.Asp88Tyr) c.489G>T | |
4 | g.150844138C>G | CA358450562 | LRBA | c.4531G>C (p.Asp1511His) n.2858G>C c.2245G>C (p.Asp749His) c.262G>C (p.Asp88His) c.489G>C | |
4 | g.150844138C>T | CA358450563 | LRBA | c.4531G>A (p.Asp1511Asn) n.2858G>A c.2245G>A (p.Asp749Asn) c.262G>A (p.Asp88Asn) c.489G>A | |
4 | g.150844139C>A | CA358450564 | LRBA | c.4530G>T (p.Met1510Ile) n.2857G>T c.2244G>T (p.Met748Ile) c.261G>T (p.Met87Ile) c.488G>T | |
4 | g.150844139C>G | CA358450565 | LRBA | c.4530G>C (p.Met1510Ile) n.2857G>C c.2244G>C (p.Met748Ile) c.261G>C (p.Met87Ile) c.488G>C | |
4 | g.150844139C>T | CA358450566 | LRBA | c.4530G>A (p.Met1510Ile) n.2857G>A c.2244G>A (p.Met748Ile) c.261G>A (p.Met87Ile) c.488G>A | gnomAD v4 |
4 | g.150844140A>C | CA358450567 | LRBA | c.4529T>G (p.Met1510Arg) n.2856T>G c.2243T>G (p.Met748Arg) c.260T>G (p.Met87Arg) c.487T>G | |
4 | g.150844140A>G | CA358450568 | LRBA | c.4529T>C (p.Met1510Thr) n.2856T>C c.2243T>C (p.Met748Thr) c.260T>C (p.Met87Thr) c.487T>C | |
4 | g.150844140A>T | CA358450569 | LRBA | c.4529T>A (p.Met1510Lys) n.2856T>A c.2243T>A (p.Met748Lys) c.260T>A (p.Met87Lys) c.487T>A | |
4 | g.150844141T>A | CA358450570 | LRBA | c.4528A>T (p.Met1510Leu) n.2855A>T c.2242A>T (p.Met748Leu) c.259A>T (p.Met87Leu) c.486A>T | |
4 | g.150844141T>C | CA3102733 | LRBA | c.4528A>G (p.Met1510Val) n.2855A>G c.2242A>G (p.Met748Val) c.259A>G (p.Met87Val) c.486A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844141T>G | CA358450571 | LRBA | c.4528A>C (p.Met1510Leu) n.2855A>C c.2242A>C (p.Met748Leu) c.259A>C (p.Met87Leu) c.486A>C | |
4 | g.150844141T= | CA1503628153 | LRBA | c.4528A= (p.Met1510=) n.2855A= c.2242A= (p.Met748=) c.259A= (p.Met87=) c.486A= | |
4 | g.150844142G>A | CA441758242 | LRBA | c.4527C>T (p.Asp1509=) n.2854C>T c.2241C>T (p.Asp747=) c.258C>T (p.Asp86=) c.485C>T | dbSNP |
4 | g.150844142G>C | CA358450573 | LRBA | c.4527C>G (p.Asp1509Glu) n.2854C>G c.2241C>G (p.Asp747Glu) c.258C>G (p.Asp86Glu) c.485C>G | |
4 | g.150844142G= | CA1503628163 | LRBA | c.4527C= (p.Asp1509=) n.2854C= c.2241C= (p.Asp747=) c.258C= (p.Asp86=) c.485C= | |
4 | g.150844142G>T | CA358450572 | LRBA | c.4527C>A (p.Asp1509Glu) n.2854C>A c.2241C>A (p.Asp747Glu) c.258C>A (p.Asp86Glu) c.485C>A | COSMIC |
4 | g.150844143T>A | CA358450574 | LRBA | c.4526A>T (p.Asp1509Val) n.2853A>T c.2240A>T (p.Asp747Val) c.257A>T (p.Asp86Val) c.484A>T | |
4 | g.150844143T>C | CA358450575 | LRBA | c.4526A>G (p.Asp1509Gly) n.2853A>G c.2240A>G (p.Asp747Gly) c.257A>G (p.Asp86Gly) c.484A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.150844143T>G | CA358450576 | LRBA | c.4526A>C (p.Asp1509Ala) n.2853A>C c.2240A>C (p.Asp747Ala) c.257A>C (p.Asp86Ala) c.484A>C | |
4 | g.150844143T= | CA1503628171 | LRBA | c.4526A= (p.Asp1509=) n.2853A= c.2240A= (p.Asp747=) c.257A= (p.Asp86=) c.484A= | |
4 | g.150844144C>A | CA358450577 | LRBA | c.4525G>T (p.Asp1509Tyr) n.2852G>T c.2239G>T (p.Asp747Tyr) c.256G>T (p.Asp86Tyr) c.483G>T | |
4 | g.150844144C= | CA1503628177 | LRBA | c.4525G= (p.Asp1509=) n.2852G= c.2239G= (p.Asp747=) c.256G= (p.Asp86=) c.483G= | |
4 | g.150844144C>G | CA358450578 | LRBA | c.4525G>C (p.Asp1509His) n.2852G>C c.2239G>C (p.Asp747His) c.256G>C (p.Asp86His) c.483G>C | |
4 | g.150844144C>T | CA3102734 | LRBA | c.4525G>A (p.Asp1509Asn) n.2852G>A c.2239G>A (p.Asp747Asn) c.256G>A (p.Asp86Asn) c.483G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844145C>A | CA358450579 | LRBA | c.4524G>T (p.Gln1508His) n.2851G>T c.2238G>T (p.Gln746His) c.255G>T (p.Gln85His) c.482G>T | |
4 | g.150844145C>G | CA358450580 | LRBA | c.4524G>C (p.Gln1508His) n.2851G>C c.2238G>C (p.Gln746His) c.255G>C (p.Gln85His) c.482G>C | |
4 | g.150844145C>T | CA441758247 | LRBA | c.4524G>A (p.Gln1508=) n.2851G>A c.2238G>A (p.Gln746=) c.255G>A (p.Gln85=) c.482G>A | gnomAD v4 |
4 | g.150844146T>A | CA358450581 | LRBA | c.4523A>T (p.Gln1508Leu) n.2850A>T c.2237A>T (p.Gln746Leu) c.254A>T (p.Gln85Leu) c.481A>T | gnomAD v4 |
4 | g.150844146T>C | CA358450582 | LRBA | c.4523A>G (p.Gln1508Arg) n.2850A>G c.2237A>G (p.Gln746Arg) c.254A>G (p.Gln85Arg) c.481A>G | dbSNP COSMIC |
4 | g.150844146T>G | CA358450583 | LRBA | c.4523A>C (p.Gln1508Pro) n.2850A>C c.2237A>C (p.Gln746Pro) c.254A>C (p.Gln85Pro) c.481A>C | |
4 | g.150844146T= | CA1503628183 | LRBA | c.4523A= (p.Gln1508=) n.2850A= c.2237A= (p.Gln746=) c.254A= (p.Gln85=) c.481A= | |
4 | g.150844147G>A | CA358450586 | LRBA | c.4522C>T (p.Gln1508Ter) n.2849C>T c.2236C>T (p.Gln746Ter) c.253C>T (p.Gln85Ter) c.480C>T | ClinVar dbSNP gnomAD v4 |
4 | g.150844147G>C | CA358450585 | LRBA | c.4522C>G (p.Gln1508Glu) n.2849C>G c.2236C>G (p.Gln746Glu) c.253C>G (p.Gln85Glu) c.480C>G | |
4 | g.150844147G= | CA1503628192 | LRBA | c.4522C= (p.Gln1508=) n.2849C= c.2236C= (p.Gln746=) c.253C= (p.Gln85=) c.480C= | |
4 | g.150844147G>T | CA358450584 | LRBA | c.4522C>A (p.Gln1508Lys) n.2849C>A c.2236C>A (p.Gln746Lys) c.253C>A (p.Gln85Lys) c.480C>A | |
4 | g.150844148T>A | CA441758249 | LRBA | c.4521A>T (p.Leu1507=) n.2848A>T c.2235A>T (p.Leu745=) c.252A>T (p.Leu84=) c.479A>T | |
4 | g.150844148T>C | CA441758250 | LRBA | c.4521A>G (p.Leu1507=) n.2848A>G c.2235A>G (p.Leu745=) c.252A>G (p.Leu84=) c.479A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.150844148T>G | CA441758251 | LRBA | c.4521A>C (p.Leu1507=) n.2848A>C c.2235A>C (p.Leu745=) c.252A>C (p.Leu84=) c.479A>C | dbSNP |
4 | g.150844148T= | CA1503628200 | LRBA | c.4521A= (p.Leu1507=) n.2848A= c.2235A= (p.Leu745=) c.252A= (p.Leu84=) c.479A= | |
4 | g.150844149A>C | CA358450587 | LRBA | c.4520T>G (p.Leu1507Arg) n.2847T>G c.2234T>G (p.Leu745Arg) c.251T>G (p.Leu84Arg) c.478T>G | |
4 | g.150844149A>G | CA358450588 | LRBA | c.4520T>C (p.Leu1507Pro) n.2847T>C c.2234T>C (p.Leu745Pro) c.251T>C (p.Leu84Pro) c.478T>C | |
4 | g.150844149A>T | CA358450589 | LRBA | c.4520T>A (p.Leu1507Gln) n.2847T>A c.2234T>A (p.Leu745Gln) c.251T>A (p.Leu84Gln) c.478T>A | |
4 | g.150844150G>A | CA441758253 | LRBA | c.4519C>T (p.Leu1507=) n.2846C>T c.2233C>T (p.Leu745=) c.250C>T (p.Leu84=) c.477C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.150844150G>C | CA358450590 | LRBA | c.4519C>G (p.Leu1507Val) n.2846C>G c.2233C>G (p.Leu745Val) c.250C>G (p.Leu84Val) c.477C>G | |
4 | g.150844150G= | CA1503628209 | LRBA | c.4519C= (p.Leu1507=) n.2846C= c.2233C= (p.Leu745=) c.250C= (p.Leu84=) c.477C= | |
4 | g.150844150G>T | CA358450591 | LRBA | c.4519C>A (p.Leu1507Ile) n.2846C>A c.2233C>A (p.Leu745Ile) c.250C>A (p.Leu84Ile) c.477C>A | |
4 | g.150844151A>C | CA441758255 | LRBA | c.4518T>G (p.Leu1506=) n.2845T>G c.2232T>G (p.Leu744=) c.249T>G (p.Leu83=) c.476T>G | |
4 | g.150844151A>G | CA441758257 | LRBA | c.4518T>C (p.Leu1506=) n.2845T>C c.2232T>C (p.Leu744=) c.249T>C (p.Leu83=) c.476T>C | |
4 | g.150844151A>T | CA441758260 | LRBA | c.4518T>A (p.Leu1506=) n.2845T>A c.2232T>A (p.Leu744=) c.249T>A (p.Leu83=) c.476T>A | |
4 | g.150844152A>C | CA358450592 | LRBA | c.4517T>G (p.Leu1506Arg) n.2844T>G c.2231T>G (p.Leu744Arg) c.248T>G (p.Leu83Arg) c.475T>G | |
4 | g.150844152A>G | CA358450593 | LRBA | c.4517T>C (p.Leu1506Pro) n.2844T>C c.2231T>C (p.Leu744Pro) c.248T>C (p.Leu83Pro) c.475T>C | |
4 | g.150844152A>T | CA358450594 | LRBA | c.4517T>A (p.Leu1506His) n.2844T>A c.2231T>A (p.Leu744His) c.248T>A (p.Leu83His) c.475T>A | |
4 | g.150844153G>A | CA358450595 | LRBA | c.4516C>T (p.Leu1506Phe) n.2843C>T c.2230C>T (p.Leu744Phe) c.247C>T (p.Leu83Phe) c.474C>T | |
4 | g.150844153G>C | CA358450596 | LRBA | c.4516C>G (p.Leu1506Val) n.2843C>G c.2230C>G (p.Leu744Val) c.247C>G (p.Leu83Val) c.474C>G | |
4 | g.150844153G>T | CA358450597 | LRBA | c.4516C>A (p.Leu1506Ile) n.2843C>A c.2230C>A (p.Leu744Ile) c.247C>A (p.Leu83Ile) c.474C>A | |
4 | g.150844153_150844154delinsGC | CA1503628214 | LRBA | c.4515_4516delinsGC (p.Arg1505=) n.2842_2843delinsGC c.2229_2230delinsGC (p.Arg743=) c.246_247delinsGC (p.Arg82=) c.473_474delinsGC | |
4 | g.150844154C>A | CA358450599 | LRBA | c.4515G>T (p.Arg1505Ser) n.2842G>T c.2229G>T (p.Arg743Ser) c.246G>T (p.Arg82Ser) c.473G>T | |
4 | g.150844154C= | CA1503628223 | LRBA | c.4515G= (p.Arg1505=) n.2842G= c.2229G= (p.Arg743=) c.246G= (p.Arg82=) c.473G= | |
4 | g.150844154C>G | CA358450598 | LRBA | c.4515G>C (p.Arg1505Ser) n.2842G>C c.2229G>C (p.Arg743Ser) c.246G>C (p.Arg82Ser) c.473G>C | gnomAD v4 |
4 | g.150844154C>T | CA3102735 | LRBA | c.4515G>A (p.Arg1505=) n.2842G>A c.2229G>A (p.Arg743=) c.246G>A (p.Arg82=) c.473G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844155del | CA1503628222 | LRBA | c.4515del (p.Arg1505SerfsTer19) n.2842del c.2229del (p.Arg743SerfsTer19) c.246del (p.Arg82SerfsTer19) c.473del | dbSNP |
4 | g.150844155C>A | CA358450600 | LRBA | c.4514G>T (p.Arg1505Met) n.2841G>T c.2228G>T (p.Arg743Met) c.245G>T (p.Arg82Met) c.472G>T | |
4 | g.150844155C>G | CA358450601 | LRBA | c.4514G>C (p.Arg1505Thr) n.2841G>C c.2228G>C (p.Arg743Thr) c.245G>C (p.Arg82Thr) c.472G>C | |
4 | g.150844155C>T | CA358450602 | LRBA | c.4514G>A (p.Arg1505Lys) n.2841G>A c.2228G>A (p.Arg743Lys) c.245G>A (p.Arg82Lys) c.472G>A | |
4 | g.150844156T>A | CA358450603 | LRBA | c.4513A>T (p.Arg1505Trp) n.2840A>T c.2227A>T (p.Arg743Trp) c.244A>T (p.Arg82Trp) c.471A>T | |
4 | g.150844156T>C | CA3102736 | LRBA | c.4513A>G (p.Arg1505Gly) n.2840A>G c.2227A>G (p.Arg743Gly) c.244A>G (p.Arg82Gly) c.471A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844156T>G | CA441758268 | LRBA | c.4513A>C (p.Arg1505=) n.2840A>C c.2227A>C (p.Arg743=) c.244A>C (p.Arg82=) c.471A>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.150844156T= | CA1503628234 | LRBA | c.4513A= (p.Arg1505=) n.2840A= c.2227A= (p.Arg743=) c.244A= (p.Arg82=) c.471A= | |
4 | g.150844157G>A | CA441758269 | LRBA | c.4512C>T (p.Asp1504=) n.2839C>T c.2226C>T (p.Asp742=) c.243C>T (p.Asp81=) c.470C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844157G>C | CA358450604 | LRBA | c.4512C>G (p.Asp1504Glu) n.2839C>G c.2226C>G (p.Asp742Glu) c.243C>G (p.Asp81Glu) c.470C>G | dbSNP |
4 | g.150844157G= | CA1503628241 | LRBA | c.4512C= (p.Asp1504=) n.2839C= c.2226C= (p.Asp742=) c.243C= (p.Asp81=) c.470C= | |
4 | g.150844157G>T | CA358450605 | LRBA | c.4512C>A (p.Asp1504Glu) n.2839C>A c.2226C>A (p.Asp742Glu) c.243C>A (p.Asp81Glu) c.470C>A | gnomAD v4 |
4 | g.150844158T>A | CA358450606 | LRBA | c.4511A>T (p.Asp1504Val) n.2838A>T c.2225A>T (p.Asp742Val) c.242A>T (p.Asp81Val) c.469A>T | |
4 | g.150844158T>C | CA358450607 | LRBA | c.4511A>G (p.Asp1504Gly) n.2838A>G c.2225A>G (p.Asp742Gly) c.242A>G (p.Asp81Gly) c.469A>G | |
4 | g.150844158T>G | CA358450608 | LRBA | c.4511A>C (p.Asp1504Ala) n.2838A>C c.2225A>C (p.Asp742Ala) c.242A>C (p.Asp81Ala) c.469A>C | |
4 | g.150844159C>A | CA358450609 | LRBA | c.4510G>T (p.Asp1504Tyr) n.2837G>T c.2224G>T (p.Asp742Tyr) c.241G>T (p.Asp81Tyr) c.468G>T | |
4 | g.150844159C= | CA1503628249 | LRBA | c.4510G= (p.Asp1504=) n.2837G= c.2224G= (p.Asp742=) c.241G= (p.Asp81=) c.468G= | |
4 | g.150844159C>G | CA358450610 | LRBA | c.4510G>C (p.Asp1504His) n.2837G>C c.2224G>C (p.Asp742His) c.241G>C (p.Asp81His) c.468G>C | |
4 | g.150844159C>T | CA358450611 | LRBA | c.4510G>A (p.Asp1504Asn) n.2837G>A c.2224G>A (p.Asp742Asn) c.241G>A (p.Asp81Asn) c.468G>A | dbSNP |
4 | g.150844160A>C | CA441758273 | LRBA | c.4509T>G (p.Leu1503=) n.2836T>G c.2223T>G (p.Leu741=) c.240T>G (p.Leu80=) c.467T>G | |
4 | g.150844160A>G | CA441758278 | LRBA | c.4509T>C (p.Leu1503=) n.2836T>C c.2223T>C (p.Leu741=) c.240T>C (p.Leu80=) c.467T>C | |
4 | g.150844160A>T | CA441758279 | LRBA | c.4509T>A (p.Leu1503=) n.2836T>A c.2223T>A (p.Leu741=) c.240T>A (p.Leu80=) c.467T>A | |
4 | g.150844161A>C | CA358450613 | LRBA | c.4508T>G (p.Leu1503Arg) n.2835T>G c.2222T>G (p.Leu741Arg) c.239T>G (p.Leu80Arg) c.466T>G | |
4 | g.150844161A>G | CA358450614 | LRBA | c.4508T>C (p.Leu1503Pro) n.2835T>C c.2222T>C (p.Leu741Pro) c.239T>C (p.Leu80Pro) c.466T>C | |
4 | g.150844161A>T | CA358450612 | LRBA | c.4508T>A (p.Leu1503His) n.2835T>A c.2222T>A (p.Leu741His) c.239T>A (p.Leu80His) c.466T>A | COSMIC |
4 | g.150844162G>A | CA358450617 | LRBA | c.4507C>T (p.Leu1503Phe) n.2834C>T c.2221C>T (p.Leu741Phe) c.238C>T (p.Leu80Phe) c.465C>T | |
4 | g.150844162G>C | CA358450615 | LRBA | c.4507C>G (p.Leu1503Val) n.2834C>G c.2221C>G (p.Leu741Val) c.238C>G (p.Leu80Val) c.465C>G | |
4 | g.150844162G>T | CA358450616 | LRBA | c.4507C>A (p.Leu1503Ile) n.2834C>A c.2221C>A (p.Leu741Ile) c.238C>A (p.Leu80Ile) c.465C>A | |
4 | g.150844163A>C | CA358450618 | LRBA | c.4506T>G (p.Asp1502Glu) n.2833T>G c.2220T>G (p.Asp740Glu) c.237T>G (p.Asp79Glu) c.464T>G | |
4 | g.150844163A>G | CA441758290 | LRBA | c.4506T>C (p.Asp1502=) n.2833T>C c.2220T>C (p.Asp740=) c.237T>C (p.Asp79=) c.464T>C | |
4 | g.150844163A>T | CA358450619 | LRBA | c.4506T>A (p.Asp1502Glu) n.2833T>A c.2220T>A (p.Asp740Glu) c.237T>A (p.Asp79Glu) c.464T>A | |
4 | g.150844164T>A | CA358450620 | LRBA | c.4505A>T (p.Asp1502Val) n.2832A>T c.2219A>T (p.Asp740Val) c.236A>T (p.Asp79Val) c.463A>T | gnomAD v4 |
4 | g.150844164T>C | CA358450621 | LRBA | c.4505A>G (p.Asp1502Gly) n.2832A>G c.2219A>G (p.Asp740Gly) c.236A>G (p.Asp79Gly) c.463A>G | |
4 | g.150844164T>G | CA358450622 | LRBA | c.4505A>C (p.Asp1502Ala) n.2832A>C c.2219A>C (p.Asp740Ala) c.236A>C (p.Asp79Ala) c.463A>C | |
4 | g.150844165C>A | CA358450623 | LRBA | c.4504G>T (p.Asp1502Tyr) n.2831G>T c.2218G>T (p.Asp740Tyr) c.235G>T (p.Asp79Tyr) c.462G>T | |
4 | g.150844165C= | CA1503628254 | LRBA | c.4504G= (p.Asp1502=) n.2831G= c.2218G= (p.Asp740=) c.235G= (p.Asp79=) c.462G= | |
4 | g.150844165C>G | CA358450624 | LRBA | c.4504G>C (p.Asp1502His) n.2831G>C c.2218G>C (p.Asp740His) c.235G>C (p.Asp79His) c.462G>C | |
4 | g.150844165C>T | CA358450625 | LRBA | c.4504G>A (p.Asp1502Asn) n.2831G>A c.2218G>A (p.Asp740Asn) c.235G>A (p.Asp79Asn) c.462G>A | dbSNP gnomAD v4 |
4 | g.150844166T>A | CA358450626 | LRBA | c.4503A>T (p.Arg1501Ser) n.2830A>T c.2217A>T (p.Arg739Ser) c.234A>T (p.Arg78Ser) c.461A>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.150844166T>C | CA441758303 | LRBA | c.4503A>G (p.Arg1501=) n.2830A>G c.2217A>G (p.Arg739=) c.234A>G (p.Arg78=) c.461A>G | gnomAD v4 |
4 | g.150844166T>G | CA358450627 | LRBA | c.4503A>C (p.Arg1501Ser) n.2830A>C c.2217A>C (p.Arg739Ser) c.234A>C (p.Arg78Ser) c.461A>C | |
4 | g.150844166T= | CA1503628264 | LRBA | c.4503A= (p.Arg1501=) n.2830A= c.2217A= (p.Arg739=) c.234A= (p.Arg78=) c.461A= | |
4 | g.150844167C>A | CA358450629 | LRBA | c.4502G>T (p.Arg1501Ile) n.2829G>T c.2216G>T (p.Arg739Ile) c.233G>T (p.Arg78Ile) c.460G>T | gnomAD v4 |
4 | g.150844167C= | CA1503628267 | LRBA | c.4502G= (p.Arg1501=) n.2829G= c.2216G= (p.Arg739=) c.233G= (p.Arg78=) c.460G= | |
4 | g.150844167C>G | CA358450628 | LRBA | c.4502G>C (p.Arg1501Thr) n.2829G>C c.2216G>C (p.Arg739Thr) c.233G>C (p.Arg78Thr) c.460G>C | |
4 | g.150844167C>T | CA3102737 | LRBA | c.4502G>A (p.Arg1501Lys) n.2829G>A c.2216G>A (p.Arg739Lys) c.233G>A (p.Arg78Lys) c.460G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844168T>A | CA358450630 | LRBA | c.4501A>T (p.Arg1501Ter) n.2828A>T c.2215A>T (p.Arg739Ter) c.232A>T (p.Arg78Ter) c.459A>T | |
4 | g.150844168T>C | CA358450631 | LRBA | c.4501A>G (p.Arg1501Gly) n.2828A>G c.2215A>G (p.Arg739Gly) c.232A>G (p.Arg78Gly) c.459A>G | |
4 | g.150844168T>G | CA441758310 | LRBA | c.4501A>C (p.Arg1501=) n.2828A>C c.2215A>C (p.Arg739=) c.232A>C (p.Arg78=) c.459A>C | gnomAD v4 |
4 | g.150844168_150844169del | CA2672339886 | LRBA | c.4500_4501del (p.Asp1502SerfsTer2) n.2827_2828del c.2214_2215del (p.Asp740SerfsTer2) c.231_232del (p.Asp79SerfsTer2) c.458_459del | gnomAD v4 |
4 | g.150844169T>A | CA441758311 | LRBA | c.4500A>T (p.Val1500=) n.2827A>T c.2214A>T (p.Val738=) c.231A>T (p.Val77=) c.458A>T | |
4 | g.150844169T>C | CA3102738 | LRBA | c.4500A>G (p.Val1500=) n.2827A>G c.2214A>G (p.Val738=) c.231A>G (p.Val77=) c.458A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844169T>G | CA441758312 | LRBA | c.4500A>C (p.Val1500=) n.2827A>C c.2214A>C (p.Val738=) c.231A>C (p.Val77=) c.458A>C | |
4 | g.150844169T= | CA1503628278 | LRBA | c.4500A= (p.Val1500=) n.2827A= c.2214A= (p.Val738=) c.231A= (p.Val77=) c.458A= | |
4 | g.150844170A>C | CA358450632 | LRBA | c.4499T>G (p.Val1500Gly) n.2826T>G c.2213T>G (p.Val738Gly) c.230T>G (p.Val77Gly) c.457T>G | |
4 | g.150844170A>G | CA358450633 | LRBA | c.4499T>C (p.Val1500Ala) n.2826T>C c.2213T>C (p.Val738Ala) c.230T>C (p.Val77Ala) c.457T>C | |
4 | g.150844170A>T | CA358450634 | LRBA | c.4499T>A (p.Val1500Glu) n.2826T>A c.2213T>A (p.Val738Glu) c.230T>A (p.Val77Glu) c.457T>A | |
4 | g.150844171C>A | CA358450635 | LRBA | c.4498G>T (p.Val1500Leu) n.2825G>T c.2212G>T (p.Val738Leu) c.229G>T (p.Val77Leu) c.456G>T | gnomAD v4 |
4 | g.150844171C>G | CA358450636 | LRBA | c.4498G>C (p.Val1500Leu) n.2825G>C c.2212G>C (p.Val738Leu) c.229G>C (p.Val77Leu) c.456G>C | |
4 | g.150844171C>T | CA358450637 | LRBA | c.4498G>A (p.Val1500Ile) n.2825G>A c.2212G>A (p.Val738Ile) c.229G>A (p.Val77Ile) c.456G>A | |
4 | g.150844172T>A | CA441758315 | LRBA | c.4497A>T (p.Pro1499=) n.2824A>T c.2211A>T (p.Pro737=) c.228A>T (p.Pro76=) c.455A>T | dbSNP |
4 | g.150844172T>C | CA441758318 | LRBA | c.4497A>G (p.Pro1499=) n.2824A>G c.2211A>G (p.Pro737=) c.228A>G (p.Pro76=) c.455A>G | gnomAD v4 |
4 | g.150844172T>G | CA441758316 | LRBA | c.4497A>C (p.Pro1499=) n.2824A>C c.2211A>C (p.Pro737=) c.228A>C (p.Pro76=) c.455A>C | |
4 | g.150844172T= | CA1503628281 | LRBA | c.4497A= (p.Pro1499=) n.2824A= c.2211A= (p.Pro737=) c.228A= (p.Pro76=) c.455A= | |
4 | g.150844173G>A | CA358450638 | LRBA | c.4496C>T (p.Pro1499Leu) n.2823C>T c.2210C>T (p.Pro737Leu) c.227C>T (p.Pro76Leu) c.454C>T | dbSNP gnomAD v4 |
4 | g.150844173G>C | CA358450639 | LRBA | c.4496C>G (p.Pro1499Arg) n.2823C>G c.2210C>G (p.Pro737Arg) c.227C>G (p.Pro76Arg) c.454C>G | |
4 | g.150844173G= | CA1503628285 | LRBA | c.4496C= (p.Pro1499=) n.2823C= c.2210C= (p.Pro737=) c.227C= (p.Pro76=) c.454C= | |
4 | g.150844173G>T | CA358450640 | LRBA | c.4496C>A (p.Pro1499Gln) n.2823C>A c.2210C>A (p.Pro737Gln) c.227C>A (p.Pro76Gln) c.454C>A | |
4 | g.150844174G>A | CA358450642 | LRBA | c.4495C>T (p.Pro1499Ser) n.2822C>T c.2209C>T (p.Pro737Ser) c.226C>T (p.Pro76Ser) c.453C>T | |
4 | g.150844174G>C | CA358450643 | LRBA | c.4495C>G (p.Pro1499Ala) n.2822C>G c.2209C>G (p.Pro737Ala) c.226C>G (p.Pro76Ala) c.453C>G | |
4 | g.150844174G>T | CA358450641 | LRBA | c.4495C>A (p.Pro1499Thr) n.2822C>A c.2209C>A (p.Pro737Thr) c.226C>A (p.Pro76Thr) c.453C>A | |
4 | g.150844175A>C | CA441758322 | LRBA | c.4494T>G (p.Ser1498=) n.2821T>G c.2208T>G (p.Ser736=) c.225T>G (p.Ser75=) c.452T>G | |
4 | g.150844175A>G | CA441758321 | LRBA | c.4494T>C (p.Ser1498=) n.2821T>C c.2208T>C (p.Ser736=) c.225T>C (p.Ser75=) c.452T>C | |
4 | g.150844175A>T | CA441758320 | LRBA | c.4494T>A (p.Ser1498=) n.2821T>A c.2208T>A (p.Ser736=) c.225T>A (p.Ser75=) c.452T>A | |
4 | g.150844176G>A | CA358450644 | LRBA | c.4493C>T (p.Ser1498Phe) n.2820C>T c.2207C>T (p.Ser736Phe) c.224C>T (p.Ser75Phe) c.451C>T | gnomAD v4 |
4 | g.150844176G>C | CA358450645 | LRBA | c.4493C>G (p.Ser1498Cys) n.2820C>G c.2207C>G (p.Ser736Cys) c.224C>G (p.Ser75Cys) c.451C>G | |
4 | g.150844176G>T | CA358450646 | LRBA | c.4493C>A (p.Ser1498Tyr) n.2820C>A c.2207C>A (p.Ser736Tyr) c.224C>A (p.Ser75Tyr) c.451C>A | |
4 | g.150844177A>C | CA358450647 | LRBA | c.4492T>G (p.Ser1498Ala) n.2819T>G c.2206T>G (p.Ser736Ala) c.223T>G (p.Ser75Ala) c.450T>G | |
4 | g.150844177A>G | CA358450648 | LRBA | c.4492T>C (p.Ser1498Pro) n.2819T>C c.2206T>C (p.Ser736Pro) c.223T>C (p.Ser75Pro) c.450T>C | gnomAD v4 |
4 | g.150844177A>T | CA358450649 | LRBA | c.4492T>A (p.Ser1498Thr) n.2819T>A c.2206T>A (p.Ser736Thr) c.223T>A (p.Ser75Thr) c.450T>A | gnomAD v4 |
4 | g.150844178T>A | CA441758327 | LRBA | c.4491A>T (p.Ile1497=) n.2818A>T c.2205A>T (p.Ile735=) c.222A>T (p.Ile74=) c.449A>T | dbSNP gnomAD v4 |
4 | g.150844178T>C | CA358450650 | LRBA | c.4491A>G (p.Ile1497Met) n.2818A>G c.2205A>G (p.Ile735Met) c.222A>G (p.Ile74Met) c.449A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.150844178T>G | CA441758328 | LRBA | c.4491A>C (p.Ile1497=) n.2818A>C c.2205A>C (p.Ile735=) c.222A>C (p.Ile74=) c.449A>C | |
4 | g.150844178T= | CA1503628295 | LRBA | c.4491A= (p.Ile1497=) n.2818A= c.2205A= (p.Ile735=) c.222A= (p.Ile74=) c.449A= | |
4 | g.150844179A>C | CA358450651 | LRBA | c.4490T>G (p.Ile1497Arg) n.2817T>G c.2204T>G (p.Ile735Arg) c.221T>G (p.Ile74Arg) c.448T>G | |
4 | g.150844179A>G | CA358450652 | LRBA | c.4490T>C (p.Ile1497Thr) n.2817T>C c.2204T>C (p.Ile735Thr) c.221T>C (p.Ile74Thr) c.448T>C | |
4 | g.150844179A>T | CA358450653 | LRBA | c.4490T>A (p.Ile1497Lys) n.2817T>A c.2204T>A (p.Ile735Lys) c.221T>A (p.Ile74Lys) c.448T>A | |
4 | g.150844180T>A | CA358450654 | LRBA | c.4489A>T (p.Ile1497Leu) n.2816A>T c.2203A>T (p.Ile735Leu) c.220A>T (p.Ile74Leu) c.447A>T | |
4 | g.150844180T>C | CA358450655 | LRBA | c.4489A>G (p.Ile1497Val) n.2816A>G c.2203A>G (p.Ile735Val) c.220A>G (p.Ile74Val) c.447A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.150844180T>G | CA358450656 | LRBA | c.4489A>C (p.Ile1497Leu) n.2816A>C c.2203A>C (p.Ile735Leu) c.220A>C (p.Ile74Leu) c.447A>C | |
4 | g.150844180T= | CA1503628304 | LRBA | c.4489A= (p.Ile1497=) n.2816A= c.2203A= (p.Ile735=) c.220A= (p.Ile74=) c.447A= | |
4 | g.150844181A= | CA1503628318 | LRBA | c.4488T= (p.Gly1496=) n.2815T= c.2202T= (p.Gly734=) c.219T= (p.Gly73=) c.446T= | |
4 | g.150844181A>C | CA441758334 | LRBA | c.4488T>G (p.Gly1496=) n.2815T>G c.2202T>G (p.Gly734=) c.219T>G (p.Gly73=) c.446T>G | dbSNP gnomAD v2 |
4 | g.150844181A>G | CA441758336 | LRBA | c.4488T>C (p.Gly1496=) n.2815T>C c.2202T>C (p.Gly734=) c.219T>C (p.Gly73=) c.446T>C | gnomAD v4 |
4 | g.150844181A>T | CA441758337 | LRBA | c.4488T>A (p.Gly1496=) n.2815T>A c.2202T>A (p.Gly734=) c.219T>A (p.Gly73=) c.446T>A | |
4 | g.150844182C>A | CA358450658 | LRBA | c.4487G>T (p.Gly1496Val) n.2814G>T c.2201G>T (p.Gly734Val) c.218G>T (p.Gly73Val) c.445G>T | gnomAD v4 |
4 | g.150844182C= | CA1503628327 | LRBA | c.4487G= (p.Gly1496=) n.2814G= c.2201G= (p.Gly734=) c.218G= (p.Gly73=) c.445G= | |
4 | g.150844182C>G | CA358450657 | LRBA | c.4487G>C (p.Gly1496Ala) n.2814G>C c.2201G>C (p.Gly734Ala) c.218G>C (p.Gly73Ala) c.445G>C | |
4 | g.150844182C>T | CA3102739 | LRBA | c.4487G>A (p.Gly1496Asp) n.2814G>A c.2201G>A (p.Gly734Asp) c.218G>A (p.Gly73Asp) c.445G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844183C>A | CA3102740 | LRBA | c.4486G>T (p.Gly1496Cys) n.2813G>T c.2200G>T (p.Gly734Cys) c.217G>T (p.Gly73Cys) c.444G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844183C= | CA1503628328 | LRBA | c.4486G= (p.Gly1496=) n.2813G= c.2200G= (p.Gly734=) c.217G= (p.Gly73=) c.444G= | |
4 | g.150844183C>G | CA358450659 | LRBA | c.4486G>C (p.Gly1496Arg) n.2813G>C c.2200G>C (p.Gly734Arg) c.217G>C (p.Gly73Arg) c.444G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.150844183C>T | CA3102741 | LRBA | c.4486G>A (p.Gly1496Ser) n.2813G>A c.2200G>A (p.Gly734Ser) c.217G>A (p.Gly73Ser) c.444G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844184del | CA2672339887 | LRBA | c.4485del (p.Gly1496ValfsTer5) n.2812del c.2199del (p.Gly734ValfsTer5) c.216del (p.Gly73ValfsTer5) c.443del | gnomAD v4 |
4 | g.150844184G>A | CA3102742 | LRBA | c.4485C>T (p.Gly1495=) n.2812C>T c.2199C>T (p.Gly733=) c.216C>T (p.Gly72=) c.443C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844184G>C | CA441758342 | LRBA | c.4485C>G (p.Gly1495=) n.2812C>G c.2199C>G (p.Gly733=) c.216C>G (p.Gly72=) c.443C>G | |
4 | g.150844184G= | CA1503628333 | LRBA | c.4485C= (p.Gly1495=) n.2812C= c.2199C= (p.Gly733=) c.216C= (p.Gly72=) c.443C= | |
4 | g.150844184G>T | CA441758343 | LRBA | c.4485C>A (p.Gly1495=) n.2812C>A c.2199C>A (p.Gly733=) c.216C>A (p.Gly72=) c.443C>A | gnomAD v4 |
4 | g.150844185C>A | CA358450660 | LRBA | c.4484G>T (p.Gly1495Val) n.2811G>T c.2198G>T (p.Gly733Val) c.215G>T (p.Gly72Val) c.442G>T | |
4 | g.150844185C>G | CA358450661 | LRBA | c.4484G>C (p.Gly1495Ala) n.2811G>C c.2198G>C (p.Gly733Ala) c.215G>C (p.Gly72Ala) c.442G>C | |
4 | g.150844185C>T | CA358450662 | LRBA | c.4484G>A (p.Gly1495Asp) n.2811G>A c.2198G>A (p.Gly733Asp) c.215G>A (p.Gly72Asp) c.442G>A | gnomAD v4 |
4 | g.150844186C>A | CA358450663 | LRBA | c.4483G>T (p.Gly1495Cys) n.2810G>T c.2197G>T (p.Gly733Cys) c.214G>T (p.Gly72Cys) c.441G>T | |
4 | g.150844186C>G | CA358450664 | LRBA | c.4483G>C (p.Gly1495Arg) n.2810G>C c.2197G>C (p.Gly733Arg) c.214G>C (p.Gly72Arg) c.441G>C | |
4 | g.150844186C>T | CA358450665 | LRBA | c.4483G>A (p.Gly1495Ser) n.2810G>A c.2197G>A (p.Gly733Ser) c.214G>A (p.Gly72Ser) c.441G>A | |
4 | g.150844187A>C | CA441758350 | LRBA | c.4482T>G (p.Thr1494=) n.2809T>G c.2196T>G (p.Thr732=) c.213T>G (p.Thr71=) c.440T>G | |
4 | g.150844187A>G | CA441758354 | LRBA | c.4482T>C (p.Thr1494=) n.2809T>C c.2196T>C (p.Thr732=) c.213T>C (p.Thr71=) c.440T>C | |
4 | g.150844187A>T | CA441758355 | LRBA | c.4482T>A (p.Thr1494=) n.2809T>A c.2196T>A (p.Thr732=) c.213T>A (p.Thr71=) c.440T>A | |
4 | g.150844188G>A | CA3102743 | LRBA | c.4481C>T (p.Thr1494Ile) n.2808C>T c.2195C>T (p.Thr732Ile) c.212C>T (p.Thr71Ile) c.439C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844188G>C | CA358450666 | LRBA | c.4481C>G (p.Thr1494Ser) n.2808C>G c.2195C>G (p.Thr732Ser) c.212C>G (p.Thr71Ser) c.439C>G | |
4 | g.150844188G= | CA1503628361 | LRBA | c.4481C= (p.Thr1494=) n.2808C= c.2195C= (p.Thr732=) c.212C= (p.Thr71=) c.439C= | |
4 | g.150844188G>T | CA358450667 | LRBA | c.4481C>A (p.Thr1494Asn) n.2808C>A c.2195C>A (p.Thr732Asn) c.212C>A (p.Thr71Asn) c.439C>A | gnomAD v4 |
4 | g.150844189T>A | CA358450669 | LRBA | c.4480A>T (p.Thr1494Ser) n.2807A>T c.2194A>T (p.Thr732Ser) c.211A>T (p.Thr71Ser) c.438A>T | |
4 | g.150844189T>C | CA358450668 | LRBA | c.4480A>G (p.Thr1494Ala) n.2807A>G c.2194A>G (p.Thr732Ala) c.211A>G (p.Thr71Ala) c.438A>G | |
4 | g.150844189T>G | CA3102744 | LRBA | c.4480A>C (p.Thr1494Pro) n.2807A>C c.2194A>C (p.Thr732Pro) c.211A>C (p.Thr71Pro) c.438A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844189T= | CA1503628368 | LRBA | c.4480A= (p.Thr1494=) n.2807A= c.2194A= (p.Thr732=) c.211A= (p.Thr71=) c.438A= | |
4 | g.150844190C>A | CA441758360 | LRBA | c.4479G>T (p.Val1493=) n.2806G>T c.2193G>T (p.Val731=) c.210G>T (p.Val70=) c.437G>T | |
4 | g.150844190C>G | CA441758362 | LRBA | c.4479G>C (p.Val1493=) n.2806G>C c.2193G>C (p.Val731=) c.210G>C (p.Val70=) c.437G>C | |
4 | g.150844190C>T | CA441758364 | LRBA | c.4479G>A (p.Val1493=) n.2806G>A c.2193G>A (p.Val731=) c.210G>A (p.Val70=) c.437G>A | |
4 | g.150844191A>C | CA358450670 | LRBA | c.4478T>G (p.Val1493Gly) n.2805T>G c.2192T>G (p.Val731Gly) c.209T>G (p.Val70Gly) c.436T>G | |
4 | g.150844191A>G | CA358450672 | LRBA | c.4478T>C (p.Val1493Ala) n.2805T>C c.2192T>C (p.Val731Ala) c.209T>C (p.Val70Ala) c.436T>C | gnomAD v4 |
4 | g.150844191A>T | CA358450671 | LRBA | c.4478T>A (p.Val1493Glu) n.2805T>A c.2192T>A (p.Val731Glu) c.209T>A (p.Val70Glu) c.436T>A | |
4 | g.150844192C>A | CA358450673 | LRBA | c.4477G>T (p.Val1493Leu) n.2804G>T c.2191G>T (p.Val731Leu) c.208G>T (p.Val70Leu) c.435G>T | gnomAD v4 |
4 | g.150844192C>G | CA358450675 | LRBA | c.4477G>C (p.Val1493Leu) n.2804G>C c.2191G>C (p.Val731Leu) c.208G>C (p.Val70Leu) c.435G>C | |
4 | g.150844192C>T | CA358450674 | LRBA | c.4477G>A (p.Val1493Met) n.2804G>A c.2191G>A (p.Val731Met) c.208G>A (p.Val70Met) c.435G>A | |
4 | g.150844193A= | CA1503628394 | LRBA | c.4476T= (p.Ile1492=) n.2803T= c.2190T= (p.Ile730=) c.207T= (p.Ile69=) c.434T= | |
4 | g.150844193A>C | CA3102745 | LRBA | c.4476T>G (p.Ile1492Met) n.2803T>G c.2190T>G (p.Ile730Met) c.207T>G (p.Ile69Met) c.434T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844193A>G | CA441758370 | LRBA | c.4476T>C (p.Ile1492=) n.2803T>C c.2190T>C (p.Ile730=) c.207T>C (p.Ile69=) c.434T>C | |
4 | g.150844193A>T | CA441758368 | LRBA | c.4476T>A (p.Ile1492=) n.2803T>A c.2190T>A (p.Ile730=) c.207T>A (p.Ile69=) c.434T>A | |
4 | g.150844194A>C | CA358450676 | LRBA | c.4475T>G (p.Ile1492Ser) n.2802T>G c.2189T>G (p.Ile730Ser) c.206T>G (p.Ile69Ser) c.433T>G | |
4 | g.150844194A>G | CA358450677 | LRBA | c.4475T>C (p.Ile1492Thr) n.2802T>C c.2189T>C (p.Ile730Thr) c.206T>C (p.Ile69Thr) c.433T>C | gnomAD v4 |
4 | g.150844194A>T | CA358450678 | LRBA | c.4475T>A (p.Ile1492Asn) n.2802T>A c.2189T>A (p.Ile730Asn) c.206T>A (p.Ile69Asn) c.433T>A | |
4 | g.150844195T>A | CA358450679 | LRBA | c.4474A>T (p.Ile1492Phe) n.2801A>T c.2188A>T (p.Ile730Phe) c.205A>T (p.Ile69Phe) c.432A>T | |
4 | g.150844195T>C | CA3102746 | LRBA | c.4474A>G (p.Ile1492Val) n.2801A>G c.2188A>G (p.Ile730Val) c.205A>G (p.Ile69Val) c.432A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844195T>G | CA358450680 | LRBA | c.4474A>C (p.Ile1492Leu) n.2801A>C c.2188A>C (p.Ile730Leu) c.205A>C (p.Ile69Leu) c.432A>C | |
4 | g.150844195T= | CA1503628397 | LRBA | c.4474A= (p.Ile1492=) n.2801A= c.2188A= (p.Ile730=) c.205A= (p.Ile69=) c.432A= | |
4 | g.150844196G>A | CA441758374 | LRBA | c.4473C>T (p.Asp1491=) n.2800C>T c.2187C>T (p.Asp729=) c.204C>T (p.Asp68=) c.431C>T | |
4 | g.150844196G>C | CA358450682 | LRBA | c.4473C>G (p.Asp1491Glu) n.2800C>G c.2187C>G (p.Asp729Glu) c.204C>G (p.Asp68Glu) c.431C>G | |
4 | g.150844196G>T | CA358450681 | LRBA | c.4473C>A (p.Asp1491Glu) n.2800C>A c.2187C>A (p.Asp729Glu) c.204C>A (p.Asp68Glu) c.431C>A | gnomAD v4 |
4 | g.150844197T>A | CA358450683 | LRBA | c.4472A>T (p.Asp1491Val) n.2799A>T c.2186A>T (p.Asp729Val) c.203A>T (p.Asp68Val) c.430A>T | |
4 | g.150844197T>C | CA358450684 | LRBA | c.4472A>G (p.Asp1491Gly) n.2799A>G c.2186A>G (p.Asp729Gly) c.203A>G (p.Asp68Gly) c.430A>G | ClinVar dbSNP gnomAD v4 |
4 | g.150844197T>G | CA358450685 | LRBA | c.4472A>C (p.Asp1491Ala) n.2799A>C c.2186A>C (p.Asp729Ala) c.203A>C (p.Asp68Ala) c.430A>C | |
4 | g.150844197T= | CA1503628398 | LRBA | c.4472A= (p.Asp1491=) n.2799A= c.2186A= (p.Asp729=) c.203A= (p.Asp68=) c.430A= | |
4 | g.150844197_150844199delinsTCC | CA1503628403 | LRBA | c.4470_4472delinsGGA (p.Val1490=) n.2797_2799delinsGGA c.2184_2186delinsGGA (p.Val728=) c.201_203delinsGGA (p.Val67=) c.428_430delinsGGA | |
4 | g.150844198C>A | CA358450686 | LRBA | c.4471G>T (p.Asp1491Tyr) n.2798G>T c.2185G>T (p.Asp729Tyr) c.202G>T (p.Asp68Tyr) c.429G>T | dbSNP gnomAD v4 |
4 | g.150844198C= | CA1503628417 | LRBA | c.4471G= (p.Asp1491=) n.2798G= c.2185G= (p.Asp729=) c.202G= (p.Asp68=) c.429G= | |
4 | g.150844198C>G | CA358450687 | LRBA | c.4471G>C (p.Asp1491His) n.2798G>C c.2185G>C (p.Asp729His) c.202G>C (p.Asp68His) c.429G>C | |
4 | g.150844198C>T | CA3102747 | LRBA | c.4471G>A (p.Asp1491Asn) n.2798G>A c.2185G>A (p.Asp729Asn) c.202G>A (p.Asp68Asn) c.429G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844198_150844199del | CA1503628415 | LRBA | c.4470_4471del (p.Asp1491HisfsTer13) n.2797_2798del c.2184_2185del (p.Asp729HisfsTer13) c.201_202del (p.Asp68HisfsTer13) c.428_429del | dbSNP |
4 | g.150844199C>A | CA441758380 | LRBA | c.4470G>T (p.Val1490=) n.2797G>T c.2184G>T (p.Val728=) c.201G>T (p.Val67=) c.428G>T | gnomAD v4 |
4 | g.150844199C>G | CA441758384 | LRBA | c.4470G>C (p.Val1490=) n.2797G>C c.2184G>C (p.Val728=) c.201G>C (p.Val67=) c.428G>C | |
4 | g.150844199C>T | CA441758382 | LRBA | c.4470G>A (p.Val1490=) n.2797G>A c.2184G>A (p.Val728=) c.201G>A (p.Val67=) c.428G>A | gnomAD v4 |
4 | g.150844200A>C | CA358450688 | LRBA | c.4469T>G (p.Val1490Gly) n.2796T>G c.2183T>G (p.Val728Gly) c.200T>G (p.Val67Gly) c.427T>G | |
4 | g.150844200A>G | CA358450690 | LRBA | c.4469T>C (p.Val1490Ala) n.2796T>C c.2183T>C (p.Val728Ala) c.200T>C (p.Val67Ala) c.427T>C | gnomAD v4 |
4 | g.150844200A>T | CA358450689 | LRBA | c.4469T>A (p.Val1490Glu) n.2796T>A c.2183T>A (p.Val728Glu) c.200T>A (p.Val67Glu) c.427T>A | |
4 | g.150844200_150844211delinsACTGGGCTCTAT | CA1503628427 | LRBA | c.4462-4_4469delinsATAGAGCCCAGT n.2789-4_2796delinsATAGAGCCCAGT c.2176-4_2183delinsATAGAGCCCAGT c.193-4_200delinsATAGAGCCCAGT c.420-4_427delinsATAGAGCCCAGT | |
4 | g.150844201C>A | CA358450691 | LRBA | c.4468G>T (p.Val1490Leu) n.2795G>T c.2182G>T (p.Val728Leu) c.199G>T (p.Val67Leu) c.426G>T | |
4 | g.150844201C= | CA1503628431 | LRBA | c.4468G= (p.Val1490=) n.2795G= c.2182G= (p.Val728=) c.199G= (p.Val67=) c.426G= | |
4 | g.150844201C>G | CA358450692 | LRBA | c.4468G>C (p.Val1490Leu) n.2795G>C c.2182G>C (p.Val728Leu) c.199G>C (p.Val67Leu) c.426G>C | |
4 | g.150844201C>T | CA3102748 | LRBA | c.4468G>A (p.Val1490Met) n.2795G>A c.2182G>A (p.Val728Met) c.199G>A (p.Val67Met) c.426G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844201_150844211del | CA1503628430 | LRBA | c.4462-4_4468del n.2789-4_2795del c.2176-4_2182del c.193-4_199del c.420-4_426del | dbSNP |
4 | g.150844202T>A | CA441758388 | LRBA | c.4467A>T (p.Pro1489=) n.2794A>T c.2181A>T (p.Pro727=) c.198A>T (p.Pro66=) c.425A>T | |
4 | g.150844202T>C | CA441758389 | LRBA | c.4467A>G (p.Pro1489=) n.2794A>G c.2181A>G (p.Pro727=) c.198A>G (p.Pro66=) c.425A>G | gnomAD v4 |
4 | g.150844202T>G | CA441758391 | LRBA | c.4467A>C (p.Pro1489=) n.2794A>C c.2181A>C (p.Pro727=) c.198A>C (p.Pro66=) c.425A>C | |
4 | g.150844202_150844203delinsTG | CA1503628435 | LRBA | c.4466_4467delinsCA (p.Pro1489=) n.2793_2794delinsCA c.2180_2181delinsCA (p.Pro727=) c.197_198delinsCA (p.Pro66=) c.424_425delinsCA | |
4 | g.150844203G>A | CA358450693 | LRBA | c.4466C>T (p.Pro1489Leu) n.2793C>T c.2180C>T (p.Pro727Leu) c.197C>T (p.Pro66Leu) c.424C>T | gnomAD v4 |
4 | g.150844203G>C | CA358450694 | LRBA | c.4466C>G (p.Pro1489Arg) n.2793C>G c.2180C>G (p.Pro727Arg) c.197C>G (p.Pro66Arg) c.424C>G | |
4 | g.150844203G>T | CA358450695 | LRBA | c.4466C>A (p.Pro1489Gln) n.2793C>A c.2180C>A (p.Pro727Gln) c.197C>A (p.Pro66Gln) c.424C>A | gnomAD v4 |
4 | g.150844205del | CA789055811 | LRBA | c.4466del (p.Pro1489GlnfsTer5) n.2793del c.2180del (p.Pro727GlnfsTer5) c.197del (p.Pro66GlnfsTer5) c.424del | ClinVar dbSNP gnomAD v4 |
4 | g.150844204G>A | CA358450696 | LRBA | c.4465C>T (p.Pro1489Ser) n.2792C>T c.2179C>T (p.Pro727Ser) c.196C>T (p.Pro66Ser) c.423C>T | |
4 | g.150844204G>C | CA358450697 | LRBA | c.4465C>G (p.Pro1489Ala) n.2792C>G c.2179C>G (p.Pro727Ala) c.196C>G (p.Pro66Ala) c.423C>G | gnomAD v4 |
4 | g.150844204G>T | CA358450698 | LRBA | c.4465C>A (p.Pro1489Thr) n.2792C>A c.2179C>A (p.Pro727Thr) c.196C>A (p.Pro66Thr) c.423C>A | gnomAD v4 |
4 | g.150844205G>A | CA441758396 | LRBA | c.4464C>T (p.Ser1488=) n.2791C>T c.2178C>T (p.Ser726=) c.195C>T (p.Ser65=) c.422C>T | gnomAD v4 COSMIC |
4 | g.150844205G>C | CA358450699 | LRBA | c.4464C>G (p.Ser1488Arg) n.2791C>G c.2178C>G (p.Ser726Arg) c.195C>G (p.Ser65Arg) c.422C>G | |
4 | g.150844205G>T | CA358450700 | LRBA | c.4464C>A (p.Ser1488Arg) n.2791C>A c.2178C>A (p.Ser726Arg) c.195C>A (p.Ser65Arg) c.422C>A | gnomAD v4 |
4 | g.150844206C>A | CA358450701 | LRBA | c.4463G>T (p.Ser1488Ile) n.2790G>T c.2177G>T (p.Ser726Ile) c.194G>T (p.Ser65Ile) c.421G>T | gnomAD v4 |
4 | g.150844206C>G | CA358450703 | LRBA | c.4463G>C (p.Ser1488Thr) n.2790G>C c.2177G>C (p.Ser726Thr) c.194G>C (p.Ser65Thr) c.421G>C | |
4 | g.150844206C>T | CA358450702 | LRBA | c.4463G>A (p.Ser1488Asn) n.2790G>A c.2177G>A (p.Ser726Asn) c.194G>A (p.Ser65Asn) c.421G>A | gnomAD v4 |
4 | g.150844206_150844207insCTG | CA2672339888 | LRBA | c.4462_4463insCAG (p.Ser1488delinsThrGly) n.2789_2790insCAG c.2176_2177insCAG (p.Ser726delinsThrGly) c.193_194insCAG (p.Ser65delinsThrGly) c.420_421insCAG | gnomAD v4 |
4 | g.150844207T>A | CA358450704 | LRBA | c.4462A>T (p.Ser1488Cys) n.2789A>T c.2176A>T (p.Ser726Cys) c.193A>T (p.Ser65Cys) c.420A>T | |
4 | g.150844207T>C | CA358450705 | LRBA | c.4462A>G (p.Ser1488Gly) n.2789A>G c.2176A>G (p.Ser726Gly) c.193A>G (p.Ser65Gly) c.420A>G | gnomAD v4 |
4 | g.150844207T>G | CA358450706 | LRBA | c.4462A>C (p.Ser1488Arg) n.2789A>C c.2176A>C (p.Ser726Arg) c.193A>C (p.Ser65Arg) c.420A>C | |
4 | g.150844208C>A | CA358450707 | LRBA | c.4462-1G>T (n.4462-1G>T) n.2789-1G>T c.2176-1G>T (n.2176-1G>T) c.193-1G>T (n.193-1G>T) c.420-1G>T | gnomAD v4 |
4 | g.150844208C>G | CA358450708 | LRBA | c.4462-1G>C (n.4462-1G>C) n.2789-1G>C c.2176-1G>C (n.2176-1G>C) c.193-1G>C (n.193-1G>C) c.420-1G>C | |
4 | g.150844208C>T | CA358450709 | LRBA | c.4462-1G>A (n.4462-1G>A) n.2789-1G>A c.2176-1G>A (n.2176-1G>A) c.193-1G>A (n.193-1G>A) c.420-1G>A | |
4 | g.150844209T>A | CA358450710 | LRBA | c.4462-2A>T (n.4462-2A>T) n.2789-2A>T c.2176-2A>T (n.2176-2A>T) c.193-2A>T (n.193-2A>T) c.420-2A>T | |
4 | g.150844209T>C | CA358450711 | LRBA | c.4462-2A>G (n.4462-2A>G) n.2789-2A>G c.2176-2A>G (n.2176-2A>G) c.193-2A>G (n.193-2A>G) c.420-2A>G | gnomAD v4 |
4 | g.150844209T>G | CA358450712 | LRBA | c.4462-2A>C (n.4462-2A>C) n.2789-2A>C c.2176-2A>C (n.2176-2A>C) c.193-2A>C (n.193-2A>C) c.420-2A>C | gnomAD v4 |
4 | g.150844210A>G | CA2672339889 | LRBA | c.4462-3T>C (n.4462-3T>C) n.2789-3T>C c.2176-3T>C (n.2176-3T>C) c.193-3T>C (n.193-3T>C) c.420-3T>C | gnomAD v4 |
4 | g.150844211T>A | CA2764024141 | LRBA | c.4462-4A>T (n.4462-4A>T) n.2789-4A>T c.2176-4A>T (n.2176-4A>T) c.193-4A>T (n.193-4A>T) c.420-4A>T | |
4 | g.150844211T>C | CA3102749 | LRBA | c.4462-4A>G (n.4462-4A>G) n.2789-4A>G c.2176-4A>G (n.2176-4A>G) c.193-4A>G (n.193-4A>G) c.420-4A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844211T= | CA1503628445 | LRBA | c.4462-4A= (n.4462-4A=) n.2789-4A= c.2176-4A= (n.2176-4A=) c.193-4A= (n.193-4A=) c.420-4A= | |
4 | g.150844213del | CA2578210532 | LRBA | c.4462-4del (n.4462-4del) n.2789-4del c.2176-4del (n.2176-4del) c.193-4del (n.193-4del) c.420-4del | gnomAD v4 |
4 | g.150844212T>A | CA2672339890 | LRBA | c.4462-5A>T (n.4462-5A>T) n.2789-5A>T c.2176-5A>T (n.2176-5A>T) c.193-5A>T (n.193-5A>T) c.420-5A>T | gnomAD v4 |
4 | g.150844212T>C | CA2672339892 | LRBA | c.4462-5A>G (n.4462-5A>G) n.2789-5A>G c.2176-5A>G (n.2176-5A>G) c.193-5A>G (n.193-5A>G) c.420-5A>G | gnomAD v4 |
4 | g.150844212T>G | CA2672339891 | LRBA | c.4462-5A>C (n.4462-5A>C) n.2789-5A>C c.2176-5A>C (n.2176-5A>C) c.193-5A>C (n.193-5A>C) c.420-5A>C | gnomAD v4 |
4 | g.150844212_150844213insAAAAAAAAATTG | CA2672339893 | LRBA | c.4462-6_4462-5insCAATTTTTTTTT (n.4462-6_4462-5insCAATTTTTTTTT) n.2789-6_2789-5insCAATTTTTTTTT c.2176-6_2176-5insCAATTTTTTTTT (n.2176-6_2176-5insCAATTTTTTTTT) c.193-6_193-5insCAATTTTTTTTT (n.193-6_193-5insCAATTTTTTTTT) c.420-6_420-5insCAATTTTTTTTT | gnomAD v4 |
4 | g.150844213T>A | CA2764024142 | LRBA | c.4462-6A>T (n.4462-6A>T) n.2789-6A>T c.2176-6A>T (n.2176-6A>T) c.193-6A>T (n.193-6A>T) c.420-6A>T | |
4 | g.150844213T>C | CA789055825 | LRBA | c.4462-6A>G (n.4462-6A>G) n.2789-6A>G c.2176-6A>G (n.2176-6A>G) c.193-6A>G (n.193-6A>G) c.420-6A>G | dbSNP gnomAD v4 |
4 | g.150844213T>G | CA1503628453 | LRBA | c.4462-6A>C (n.4462-6A>C) n.2789-6A>C c.2176-6A>C (n.2176-6A>C) c.193-6A>C (n.193-6A>C) c.420-6A>C | dbSNP |
4 | g.150844213T= | CA1503628452 | LRBA | c.4462-6A= (n.4462-6A=) n.2789-6A= c.2176-6A= (n.2176-6A=) c.193-6A= (n.193-6A=) c.420-6A= | |
4 | g.150844214A= | CA1503628454 | LRBA | c.4462-7T= (n.4462-7T=) n.2789-7T= c.2176-7T= (n.2176-7T=) c.193-7T= (n.193-7T=) c.420-7T= | |
4 | g.150844214A>G | CA555549306 | LRBA | c.4462-7T>C (n.4462-7T>C) n.2789-7T>C c.2176-7T>C (n.2176-7T>C) c.193-7T>C (n.193-7T>C) c.420-7T>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.150844214A>T | CA2672339894 | LRBA | c.4462-7T>A (n.4462-7T>A) n.2789-7T>A c.2176-7T>A (n.2176-7T>A) c.193-7T>A (n.193-7T>A) c.420-7T>A | gnomAD v4 |
4 | g.150844214_150844215insTAT | CA2672339895 | LRBA | c.4462-8_4462-7insATA (n.4462-8_4462-7insATA) n.2789-8_2789-7insATA c.2176-8_2176-7insATA (n.2176-8_2176-7insATA) c.193-8_193-7insATA (n.193-8_193-7insATA) c.420-8_420-7insATA | gnomAD v4 |
4 | g.150844215A= | CA1503628463 | LRBA | c.4462-8T= (n.4462-8T=) n.2789-8T= c.2176-8T= (n.2176-8T=) c.193-8T= (n.193-8T=) c.420-8T= | |
4 | g.150844215A>G | CA3102750 | LRBA | c.4462-8T>C (n.4462-8T>C) n.2789-8T>C c.2176-8T>C (n.2176-8T>C) c.193-8T>C (n.193-8T>C) c.420-8T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844216G>A | CA2672339896 | LRBA | c.4462-9C>T (n.4462-9C>T) n.2789-9C>T c.2176-9C>T (n.2176-9C>T) c.193-9C>T (n.193-9C>T) c.420-9C>T | gnomAD v4 |
4 | g.150844216G>T | CA1069459634 | LRBA | c.4462-9C>A (n.4462-9C>A) n.2789-9C>A c.2176-9C>A (n.2176-9C>A) c.193-9C>A (n.193-9C>A) c.420-9C>A | gnomAD v3 gnomAD v4 |
4 | g.150844216_150844217insGAA | CA2764024143 | LRBA | c.4462-10_4462-9insTTC (n.4462-10_4462-9insTTC) n.2789-10_2789-9insTTC c.2176-10_2176-9insTTC (n.2176-10_2176-9insTTC) c.193-10_193-9insTTC (n.193-10_193-9insTTC) c.420-10_420-9insTTC | |
4 | g.150844217A= | CA1503628468 | LRBA | c.4462-10T= (n.4462-10T=) n.2789-10T= c.2176-10T= (n.2176-10T=) c.193-10T= (n.193-10T=) c.420-10T= | |
4 | g.150844217A>G | CA2672339897 | LRBA | c.4462-10T>C (n.4462-10T>C) n.2789-10T>C c.2176-10T>C (n.2176-10T>C) c.193-10T>C (n.193-10T>C) c.420-10T>C | gnomAD v4 |
4 | g.150844217A>T | CA2672339898 | LRBA | c.4462-10T>A (n.4462-10T>A) n.2789-10T>A c.2176-10T>A (n.2176-10T>A) c.193-10T>A (n.193-10T>A) c.420-10T>A | gnomAD v4 |
4 | g.150844218T>A | CA2672339899 | LRBA | c.4462-11A>T (n.4462-11A>T) n.2789-11A>T c.2176-11A>T (n.2176-11A>T) c.193-11A>T (n.193-11A>T) c.420-11A>T | gnomAD v4 |
4 | g.150844218T>C | CA3102752 | LRBA | c.4462-11A>G (n.4462-11A>G) n.2789-11A>G c.2176-11A>G (n.2176-11A>G) c.193-11A>G (n.193-11A>G) c.420-11A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844218T= | CA1503628478 | LRBA | c.4462-11A= (n.4462-11A=) n.2789-11A= c.2176-11A= (n.2176-11A=) c.193-11A= (n.193-11A=) c.420-11A= | |
4 | g.150844219dup | CA3102751 | LRBA | c.4462-11dup (n.4462-11dup) n.2789-11dup c.2176-11dup (n.2176-11dup) c.193-11dup (n.193-11dup) c.420-11dup | dbSNP ExAC |
4 | g.150844219del | CA2578210533 | LRBA | c.4462-11del (n.4462-11del) n.2789-11del c.2176-11del (n.2176-11del) c.193-11del (n.193-11del) c.420-11del | gnomAD v4 |
4 | g.150844219T>A | CA2672339900 | LRBA | c.4462-12A>T (n.4462-12A>T) n.2789-12A>T c.2176-12A>T (n.2176-12A>T) c.193-12A>T (n.193-12A>T) c.420-12A>T | gnomAD v4 |
4 | g.150844219T>C | CA3102756 | LRBA | c.4462-12A>G (n.4462-12A>G) n.2789-12A>G c.2176-12A>G (n.2176-12A>G) c.193-12A>G (n.193-12A>G) c.420-12A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844219T= | CA1503628487 | LRBA | c.4462-12A= (n.4462-12A=) n.2789-12A= c.2176-12A= (n.2176-12A=) c.193-12A= (n.193-12A=) c.420-12A= | |
4 | g.150844219_150844223delinsTAAAA | CA1503628484 | LRBA | c.4462-16_4462-12delinsTTTTA (n.4462-16_4462-12delinsTTTTA) n.2789-16_2789-12delinsTTTTA c.2176-16_2176-12delinsTTTTA (n.2176-16_2176-12delinsTTTTA) c.193-16_193-12delinsTTTTA (n.193-16_193-12delinsTTTTA) c.420-16_420-12delinsTTTTA | |
4 | g.150844220A= | CA1503628504 | LRBA | c.4462-13T= (n.4462-13T=) n.2789-13T= c.2176-13T= (n.2176-13T=) c.193-13T= (n.193-13T=) c.420-13T= | |
4 | g.150844220A>C | CA3102759 | LRBA | c.4462-13T>G (n.4462-13T>G) n.2789-13T>G c.2176-13T>G (n.2176-13T>G) c.193-13T>G (n.193-13T>G) c.420-13T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844220A>G | CA3102757 | LRBA | c.4462-13T>C (n.4462-13T>C) n.2789-13T>C c.2176-13T>C (n.2176-13T>C) c.193-13T>C (n.193-13T>C) c.420-13T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844220A>T | CA3102758 | LRBA | c.4462-13T>A (n.4462-13T>A) n.2789-13T>A c.2176-13T>A (n.2176-13T>A) c.193-13T>A (n.193-13T>A) c.420-13T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844228dup | CA3102753 | LRBA | c.4462-13dup (n.4462-13dup) n.2789-13dup c.2176-13dup (n.2176-13dup) c.193-13dup (n.193-13dup) c.420-13dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844227_150844228dup | CA2672339901 | LRBA | c.4462-14_4462-13dup (n.4462-14_4462-13dup) n.2789-14_2789-13dup c.2176-14_2176-13dup (n.2176-14_2176-13dup) c.193-14_193-13dup (n.193-14_193-13dup) c.420-14_420-13dup | gnomAD v4 |
4 | g.150844228del | CA3102755 | LRBA | c.4462-13del (n.4462-13del) n.2789-13del c.2176-13del (n.2176-13del) c.193-13del (n.193-13del) c.420-13del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.150844227_150844228del | CA2672339902 | LRBA | c.4462-14_4462-13del (n.4462-14_4462-13del) n.2789-14_2789-13del c.2176-14_2176-13del (n.2176-14_2176-13del) c.193-14_193-13del (n.193-14_193-13del) c.420-14_420-13del | gnomAD v4 |
4 | g.150844225_150844228del | CA3102754 | LRBA | c.4462-16_4462-13del (n.4462-16_4462-13del) n.2789-16_2789-13del c.2176-16_2176-13del (n.2176-16_2176-13del) c.193-16_193-13del (n.193-16_193-13del) c.420-16_420-13del | dbSNP ExAC gnomAD v2 |
4 | g.150844221A= | CA1503628511 | LRBA | c.4462-14T= (n.4462-14T=) n.2789-14T= c.2176-14T= (n.2176-14T=) c.193-14T= (n.193-14T=) c.420-14T= | |
4 | g.150844221A>C | CA1503628512 | LRBA | c.4462-14T>G (n.4462-14T>G) n.2789-14T>G c.2176-14T>G (n.2176-14T>G) c.193-14T>G (n.193-14T>G) c.420-14T>G | dbSNP |
4 | g.150844221A>G | CA789055878 | LRBA | c.4462-14T>C (n.4462-14T>C) n.2789-14T>C c.2176-14T>C (n.2176-14T>C) c.193-14T>C (n.193-14T>C) c.420-14T>C | dbSNP gnomAD v4 |
4 | g.150844222A>G | CA2672339903 | LRBA | c.4462-15T>C (n.4462-15T>C) n.2789-15T>C c.2176-15T>C (n.2176-15T>C) c.193-15T>C (n.193-15T>C) c.420-15T>C | gnomAD v4 |
4 | g.150844223A= | CA1503628514 | LRBA | c.4462-16T= (n.4462-16T=) n.2789-16T= c.2176-16T= (n.2176-16T=) c.193-16T= (n.193-16T=) c.420-16T= | |
4 | g.150844223A>G | CA555549317 | LRBA | c.4462-16T>C (n.4462-16T>C) n.2789-16T>C c.2176-16T>C (n.2176-16T>C) c.193-16T>C (n.193-16T>C) c.420-16T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844224A= | CA1503628516 | LRBA | c.4462-17T= (n.4462-17T=) n.2789-17T= c.2176-17T= (n.2176-17T=) c.193-17T= (n.193-17T=) c.420-17T= | |
4 | g.150844224_150844225insTTCTTTGTG | CA555549318 | LRBA | c.4462-18_4462-17insCACAAAGAA (n.4462-18_4462-17insCACAAAGAA) n.2789-18_2789-17insCACAAAGAA c.2176-18_2176-17insCACAAAGAA (n.2176-18_2176-17insCACAAAGAA) c.193-18_193-17insCACAAAGAA (n.193-18_193-17insCACAAAGAA) c.420-18_420-17insCACAAAGAA | dbSNP gnomAD v2 |
4 | g.150844225_150844226insC | CA2573138121 | LRBA | c.4462-19_4462-18insG (n.4462-19_4462-18insG) n.2789-19_2789-18insG c.2176-19_2176-18insG (n.2176-19_2176-18insG) c.193-19_193-18insG (n.193-19_193-18insG) c.420-19_420-18insG | ClinVar dbSNP |
4 | g.150844226A>G | CA2672339904 | LRBA | c.4462-19T>C (n.4462-19T>C) n.2789-19T>C c.2176-19T>C (n.2176-19T>C) c.193-19T>C (n.193-19T>C) c.420-19T>C | gnomAD v4 |
4 | g.150844226A>T | CA2672339905 | LRBA | c.4462-19T>A (n.4462-19T>A) n.2789-19T>A c.2176-19T>A (n.2176-19T>A) c.193-19T>A (n.193-19T>A) c.420-19T>A | gnomAD v4 |
4 | g.150844227A= | CA1503628521 | LRBA | c.4462-20T= (n.4462-20T=) n.2789-20T= c.2176-20T= (n.2176-20T=) c.193-20T= (n.193-20T=) c.420-20T= | |
4 | g.150844227A>T | CA555549319 | LRBA | c.4462-20T>A (n.4462-20T>A) n.2789-20T>A c.2176-20T>A (n.2176-20T>A) c.193-20T>A (n.193-20T>A) c.420-20T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844228A= | CA1503628525 | LRBA | c.4462-21T= (n.4462-21T=) n.2789-21T= c.2176-21T= (n.2176-21T=) c.193-21T= (n.193-21T=) c.420-21T= | |
4 | g.150844228A>G | CA3102761 | LRBA | c.4462-21T>C (n.4462-21T>C) n.2789-21T>C c.2176-21T>C (n.2176-21T>C) c.193-21T>C (n.193-21T>C) c.420-21T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844228A>T | CA1503628527 | LRBA | c.4462-21T>A (n.4462-21T>A) n.2789-21T>A c.2176-21T>A (n.2176-21T>A) c.193-21T>A (n.193-21T>A) c.420-21T>A | dbSNP gnomAD v4 |
4 | g.150844228_150844229delinsAT | CA1503628524 | LRBA | c.4462-22_4462-21delinsAT (n.4462-22_4462-21delinsAT) n.2789-22_2789-21delinsAT c.2176-22_2176-21delinsAT (n.2176-22_2176-21delinsAT) c.193-22_193-21delinsAT (n.193-22_193-21delinsAT) c.420-22_420-21delinsAT | |
4 | g.150844229T>A | CA3102763 | LRBA | c.4462-22A>T (n.4462-22A>T) n.2789-22A>T c.2176-22A>T (n.2176-22A>T) c.193-22A>T (n.193-22A>T) c.420-22A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844229T>C | CA3102762 | LRBA | c.4462-22A>G (n.4462-22A>G) n.2789-22A>G c.2176-22A>G (n.2176-22A>G) c.193-22A>G (n.193-22A>G) c.420-22A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844229T= | CA1503628533 | LRBA | c.4462-22A= (n.4462-22A=) n.2789-22A= c.2176-22A= (n.2176-22A=) c.193-22A= (n.193-22A=) c.420-22A= | |
4 | g.150844230_150844231insCTTT | CA3102760 | LRBA | c.4462-22_4462-21insAGAA (n.4462-22_4462-21insAGAA) n.2789-22_2789-21insAGAA c.2176-22_2176-21insAGAA (n.2176-22_2176-21insAGAA) c.193-22_193-21insAGAA (n.193-22_193-21insAGAA) c.420-22_420-21insAGAA | dbSNP ExAC gnomAD v2 |
4 | g.150844230del | CA1069459651 | LRBA | c.4462-22del (n.4462-22del) n.2789-22del c.2176-22del (n.2176-22del) c.193-22del (n.193-22del) c.420-22del | dbSNP gnomAD v3 gnomAD v4 |
4 | g.150844230T>C | CA2672339906 | LRBA | c.4462-23A>G (n.4462-23A>G) n.2789-23A>G c.2176-23A>G (n.2176-23A>G) c.193-23A>G (n.193-23A>G) c.420-23A>G | gnomAD v4 |
4 | g.150844231G>A | CA3102767 | LRBA | c.4462-24C>T (n.4462-24C>T) n.2789-24C>T c.2176-24C>T (n.2176-24C>T) c.193-24C>T (n.193-24C>T) c.420-24C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844231G>C | CA3102766 | LRBA | c.4462-24C>G (n.4462-24C>G) n.2789-24C>G c.2176-24C>G (n.2176-24C>G) c.193-24C>G (n.193-24C>G) c.420-24C>G | dbSNP ExAC |
4 | g.150844231G= | CA1503628539 | LRBA | c.4462-24C= (n.4462-24C=) n.2789-24C= c.2176-24C= (n.2176-24C=) c.193-24C= (n.193-24C=) c.420-24C= | |
4 | g.150844231G>T | CA3102768 | LRBA | c.4462-24C>A (n.4462-24C>A) n.2789-24C>A c.2176-24C>A (n.2176-24C>A) c.193-24C>A (n.193-24C>A) c.420-24C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844231_150844233delinsGTA | CA1503628540 | LRBA | c.4462-26_4462-24delinsTAC (n.4462-26_4462-24delinsTAC) n.2789-26_2789-24delinsTAC c.2176-26_2176-24delinsTAC (n.2176-26_2176-24delinsTAC) c.193-26_193-24delinsTAC (n.193-26_193-24delinsTAC) c.420-26_420-24delinsTAC | |
4 | g.150844232T>C | CA3102769 | LRBA | c.4462-25A>G (n.4462-25A>G) n.2789-25A>G c.2176-25A>G (n.2176-25A>G) c.193-25A>G (n.193-25A>G) c.420-25A>G | dbSNP ExAC gnomAD v2 |
4 | g.150844232T= | CA1503628549 | LRBA | c.4462-25A= (n.4462-25A=) n.2789-25A= c.2176-25A= (n.2176-25A=) c.193-25A= (n.193-25A=) c.420-25A= | |
4 | g.150844243_150844244dup | CA3102765 | LRBA | c.4462-26_4462-25dup (n.4462-26_4462-25dup) n.2789-26_2789-25dup c.2176-26_2176-25dup (n.2176-26_2176-25dup) c.193-26_193-25dup (n.193-26_193-25dup) c.420-26_420-25dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844241_150844244dup | CA2672339907 | LRBA | c.4462-28_4462-25dup (n.4462-28_4462-25dup) n.2789-28_2789-25dup c.2176-28_2176-25dup (n.2176-28_2176-25dup) c.193-28_193-25dup (n.193-28_193-25dup) c.420-28_420-25dup | gnomAD v4 |
4 | g.150844243_150844244del | CA3102764 | LRBA | c.4462-26_4462-25del (n.4462-26_4462-25del) n.2789-26_2789-25del c.2176-26_2176-25del (n.2176-26_2176-25del) c.193-26_193-25del (n.193-26_193-25del) c.420-26_420-25del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844241_150844244del | CA2672339908 | LRBA | c.4462-28_4462-25del (n.4462-28_4462-25del) n.2789-28_2789-25del c.2176-28_2176-25del (n.2176-28_2176-25del) c.193-28_193-25del (n.193-28_193-25del) c.420-28_420-25del | gnomAD v4 |
4 | g.150844239_150844244del | CA2672339909 | LRBA | c.4462-30_4462-25del (n.4462-30_4462-25del) n.2789-30_2789-25del c.2176-30_2176-25del (n.2176-30_2176-25del) c.193-30_193-25del (n.193-30_193-25del) c.420-30_420-25del | gnomAD v4 |
4 | g.150844233A= | CA1503628552 | LRBA | c.4462-26T= (n.4462-26T=) n.2789-26T= c.2176-26T= (n.2176-26T=) c.193-26T= (n.193-26T=) c.420-26T= | |
4 | g.150844233A>G | CA3102770 | LRBA | c.4462-26T>C (n.4462-26T>C) n.2789-26T>C c.2176-26T>C (n.2176-26T>C) c.193-26T>C (n.193-26T>C) c.420-26T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.150844233A>T | CA2764024144 | LRBA | c.4462-26T>A (n.4462-26T>A) n.2789-26T>A c.2176-26T>A (n.2176-26T>A) c.193-26T>A (n.193-26T>A) c.420-26T>A | |
4 | g.150844234T>C | CA2672339910 | LRBA | c.4462-27A>G (n.4462-27A>G) n.2789-27A>G c.2176-27A>G (n.2176-27A>G) c.193-27A>G (n.193-27A>G) c.420-27A>G | gnomAD v4 |
4 | g.150844235A= | CA1503628562 | LRBA | c.4462-28T= (n.4462-28T=) n.2789-28T= c.2176-28T= (n.2176-28T=) c.193-28T= (n.193-28T=) c.420-28T= | |
4 | g.150844235A>G | CA555549320 | LRBA | c.4462-28T>C (n.4462-28T>C) n.2789-28T>C c.2176-28T>C (n.2176-28T>C) c.193-28T>C (n.193-28T>C) c.420-28T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.150844236T>C | CA1503628566 | LRBA | c.4462-29A>G (n.4462-29A>G) n.2789-29A>G c.2176-29A>G (n.2176-29A>G) c.193-29A>G (n.193-29A>G) c.420-29A>G | dbSNP gnomAD v4 |
4 | g.150844236T= | CA1503628567 | LRBA | c.4462-29A= (n.4462-29A=) n.2789-29A= c.2176-29A= (n.2176-29A=) c.193-29A= (n.193-29A=) c.420-29A= |