| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.150844090_150844092del | CA2672339874 | LRBA | c.4569+9_4569+11del (n.4569+9_4569+11del) n.2896+9_2896+11del c.2283+9_2283+11del (n.2283+9_2283+11del) c.300+9_300+11del (n.300+9_300+11del) c.527+9_527+11del | gnomAD v4 |
| 4 | g.150844091G>A | CA202158 | LRBA | c.4569+9C>T (n.4569+9C>T) n.2896+9C>T c.2283+9C>T (n.2283+9C>T) c.300+9C>T (n.300+9C>T) c.527+9C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.150844091G>C | CA2581439459 | LRBA | c.4569+9C>G (n.4569+9C>G) n.2896+9C>G c.2283+9C>G (n.2283+9C>G) c.300+9C>G (n.300+9C>G) c.527+9C>G | gnomAD v4 |
| 4 | g.150844091G= | CA1503628045 | LRBA | c.4569+9C= (n.4569+9C=) n.2896+9C= c.2283+9C= (n.2283+9C=) c.300+9C= (n.300+9C=) c.527+9C= | |
| 4 | g.150844091G>T | CA2581439458 | LRBA | c.4569+9C>A (n.4569+9C>A) n.2896+9C>A c.2283+9C>A (n.2283+9C>A) c.300+9C>A (n.300+9C>A) c.527+9C>A | gnomAD v4 |
| 4 | g.150844092T>C | CA645539874 | LRBA | c.4569+8A>G (n.4569+8A>G) n.2896+8A>G c.2283+8A>G (n.2283+8A>G) c.300+8A>G (n.300+8A>G) c.527+8A>G | gnomAD v4 COSMIC |
| 4 | g.150844093A>G | CA2672339877 | LRBA | c.4569+7T>C (n.4569+7T>C) n.2896+7T>C c.2283+7T>C (n.2283+7T>C) c.300+7T>C (n.300+7T>C) c.527+7T>C | gnomAD v4 |
| 4 | g.150844094A>G | CA2672339878 | LRBA | c.4569+6T>C (n.4569+6T>C) n.2896+6T>C c.2283+6T>C (n.2283+6T>C) c.300+6T>C (n.300+6T>C) c.527+6T>C | gnomAD v4 |
| 4 | g.150844095C>A | CA2672339879 | LRBA | c.4569+5G>T (n.4569+5G>T) n.2896+5G>T c.2283+5G>T (n.2283+5G>T) c.300+5G>T (n.300+5G>T) c.527+5G>T | gnomAD v4 |
| 4 | g.150844095C= | CA1503628053 | LRBA | c.4569+5G= (n.4569+5G=) n.2896+5G= c.2283+5G= (n.2283+5G=) c.300+5G= (n.300+5G=) c.527+5G= | |
| 4 | g.150844095C>G | CA915042366 | LRBA | c.4569+5G>C (n.4569+5G>C) n.2896+5G>C c.2283+5G>C (n.2283+5G>C) c.300+5G>C (n.300+5G>C) c.527+5G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.150844096T>C | CA2672339881 | LRBA | c.4569+4A>G (n.4569+4A>G) n.2896+4A>G c.2283+4A>G (n.2283+4A>G) c.300+4A>G (n.300+4A>G) c.527+4A>G | gnomAD v4 |
| 4 | g.150844097del | CA2672339880 | LRBA | c.4569+4del (n.4569+4del) n.2896+4del c.2283+4del (n.2283+4del) c.300+4del (n.300+4del) c.527+4del | gnomAD v4 |
| 4 | g.150844097T>C | CA2672339882 | LRBA | c.4569+3A>G (n.4569+3A>G) n.2896+3A>G c.2283+3A>G (n.2283+3A>G) c.300+3A>G (n.300+3A>G) c.527+3A>G | gnomAD v4 |
| 4 | g.150844098A>C | CA358450476 | LRBA | c.4569+2T>G (n.4569+2T>G) n.2896+2T>G c.2283+2T>G (n.2283+2T>G) c.300+2T>G (n.300+2T>G) c.527+2T>G | |
| 4 | g.150844098A>G | CA358450477 | LRBA | c.4569+2T>C (n.4569+2T>C) n.2896+2T>C c.2283+2T>C (n.2283+2T>C) c.300+2T>C (n.300+2T>C) c.527+2T>C | gnomAD v4 |
| 4 | g.150844098A>T | CA358450478 | LRBA | c.4569+2T>A (n.4569+2T>A) n.2896+2T>A c.2283+2T>A (n.2283+2T>A) c.300+2T>A (n.300+2T>A) c.527+2T>A | gnomAD v4 |
| 4 | g.150844099C>A | CA358450479 | LRBA | c.4569+1G>T (n.4569+1G>T) n.2896+1G>T c.2283+1G>T (n.2283+1G>T) c.300+1G>T (n.300+1G>T) c.527+1G>T | gnomAD v4 |
| 4 | g.150844099C>G | CA358450481 | LRBA | c.4569+1G>C (n.4569+1G>C) n.2896+1G>C c.2283+1G>C (n.2283+1G>C) c.300+1G>C (n.300+1G>C) c.527+1G>C | |
| 4 | g.150844099C>T | CA358450480 | LRBA | c.4569+1G>A (n.4569+1G>A) n.2896+1G>A c.2283+1G>A (n.2283+1G>A) c.300+1G>A (n.300+1G>A) c.527+1G>A | |
| 4 | g.150844100T>A | CA441758175 | LRBA | c.4569A>T (p.Ile1523=) n.2896A>T c.2283A>T (p.Ile761=) c.300A>T (p.Ile100=) c.527A>T | gnomAD v4 |
| 4 | g.150844100T>C | CA3102726 | LRBA | c.4569A>G (p.Ile1523Met) n.2896A>G c.2283A>G (p.Ile761Met) c.300A>G (p.Ile100Met) c.527A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.150844100T>G | CA441758177 | LRBA | c.4569A>C (p.Ile1523=) n.2896A>C c.2283A>C (p.Ile761=) c.300A>C (p.Ile100=) c.527A>C | |
| 4 | g.150844100T= | CA1503628056 | LRBA | c.4569A= (p.Ile1523=) n.2896A= c.2283A= (p.Ile761=) c.300A= (p.Ile100=) c.527A= | |
| 4 | g.150844101A= | CA1503628060 | LRBA | c.4568T= (p.Ile1523=) n.2895T= c.2282T= (p.Ile761=) c.299T= (p.Ile100=) c.526T= | |
| 4 | g.150844101A>C | CA358450482 | LRBA | c.4568T>G (p.Ile1523Arg) n.2895T>G c.2282T>G (p.Ile761Arg) c.299T>G (p.Ile100Arg) c.526T>G | |
| 4 | g.150844101A>G | CA358450483 | LRBA | c.4568T>C (p.Ile1523Thr) n.2895T>C c.2282T>C (p.Ile761Thr) c.299T>C (p.Ile100Thr) c.526T>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.150844101A>T | CA358450484 | LRBA | c.4568T>A (p.Ile1523Lys) n.2895T>A c.2282T>A (p.Ile761Lys) c.299T>A (p.Ile100Lys) c.526T>A | |
| 4 | g.150844102T>A | CA358450485 | LRBA | c.4567A>T (p.Ile1523Leu) n.2894A>T c.2281A>T (p.Ile761Leu) c.298A>T (p.Ile100Leu) c.525A>T | |
| 4 | g.150844102T>C | CA358450487 | LRBA | c.4567A>G (p.Ile1523Val) n.2894A>G c.2281A>G (p.Ile761Val) c.298A>G (p.Ile100Val) c.525A>G | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.150844102T>G | CA358450486 | LRBA | c.4567A>C (p.Ile1523Leu) n.2894A>C c.2281A>C (p.Ile761Leu) c.298A>C (p.Ile100Leu) c.525A>C | |
| 4 | g.150844102T= | CA1503628064 | LRBA | c.4567A= (p.Ile1523=) n.2894A= c.2281A= (p.Ile761=) c.298A= (p.Ile100=) c.525A= | |
| 4 | g.150844103G>A | CA441758181 | LRBA | c.4566C>T (p.Asp1522=) n.2893C>T c.2280C>T (p.Asp760=) c.297C>T (p.Asp99=) c.524C>T | gnomAD v4 |
| 4 | g.150844103G>C | CA358450488 | LRBA | c.4566C>G (p.Asp1522Glu) n.2893C>G c.2280C>G (p.Asp760Glu) c.297C>G (p.Asp99Glu) c.524C>G | dbSNP |
| 4 | g.150844103G= | CA1503628069 | LRBA | c.4566C= (p.Asp1522=) n.2893C= c.2280C= (p.Asp760=) c.297C= (p.Asp99=) c.524C= | |
| 4 | g.150844103G>T | CA3102727 | LRBA | c.4566C>A (p.Asp1522Glu) n.2893C>A c.2280C>A (p.Asp760Glu) c.297C>A (p.Asp99Glu) c.524C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.150844104T>A | CA358450489 | LRBA | c.4565A>T (p.Asp1522Val) n.2892A>T c.2279A>T (p.Asp760Val) c.296A>T (p.Asp99Val) c.523A>T | |
| 4 | g.150844104T>C | CA358450490 | LRBA | c.4565A>G (p.Asp1522Gly) n.2892A>G c.2279A>G (p.Asp760Gly) c.296A>G (p.Asp99Gly) c.523A>G | dbSNP gnomAD v4 |
| 4 | g.150844104T>G | CA358450491 | LRBA | c.4565A>C (p.Asp1522Ala) n.2892A>C c.2279A>C (p.Asp760Ala) c.296A>C (p.Asp99Ala) c.523A>C | |
| 4 | g.150844104T= | CA1503628076 | LRBA | c.4565A= (p.Asp1522=) n.2892A= c.2279A= (p.Asp760=) c.296A= (p.Asp99=) c.523A= | |
| 4 | g.150844107_150844108del | CA2672339883 | LRBA | c.4564_4565del (p.Asp1522HisfsTer4) n.2891_2892del c.2278_2279del (p.Asp760HisfsTer4) c.295_296del (p.Asp99HisfsTer3) c.522_523del c.4564_4565del (p.Asp1522HisfsTer3) | gnomAD v4 |
| 4 | g.150844105C>A | CA358450492 | LRBA | c.4564G>T (p.Asp1522Tyr) n.2891G>T c.2278G>T (p.Asp760Tyr) c.295G>T (p.Asp99Tyr) c.522G>T | gnomAD v4 |
| 4 | g.150844105C>G | CA358450493 | LRBA | c.4564G>C (p.Asp1522His) n.2891G>C c.2278G>C (p.Asp760His) c.295G>C (p.Asp99His) c.522G>C | |
| 4 | g.150844105C>T | CA358450494 | LRBA | c.4564G>A (p.Asp1522Asn) n.2891G>A c.2278G>A (p.Asp760Asn) c.295G>A (p.Asp99Asn) c.522G>A | |
| 4 | g.150844106T>A | CA3102728 | LRBA | c.4563A>T (p.Arg1521Ser) n.2890A>T c.2277A>T (p.Arg759Ser) c.294A>T (p.Arg98Ser) c.521A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.150844106T>C | CA441758186 | LRBA | c.4563A>G (p.Arg1521=) n.2890A>G c.2277A>G (p.Arg759=) c.294A>G (p.Arg98=) c.521A>G | gnomAD v4 |
| 4 | g.150844106T>G | CA358450495 | LRBA | c.4563A>C (p.Arg1521Ser) n.2890A>C c.2277A>C (p.Arg759Ser) c.294A>C (p.Arg98Ser) c.521A>C | |
| 4 | g.150844106T= | CA1503628086 | LRBA | c.4563A= (p.Arg1521=) n.2890A= c.2277A= (p.Arg759=) c.294A= (p.Arg98=) c.521A= | |
| 4 | g.150844107C>A | CA358450498 | LRBA | c.4562G>T (p.Arg1521Ile) n.2889G>T c.2276G>T (p.Arg759Ile) c.293G>T (p.Arg98Ile) c.520G>T | gnomAD v4 |
| 4 | g.150844107C>G | CA358450497 | LRBA | c.4562G>C (p.Arg1521Thr) n.2889G>C c.2276G>C (p.Arg759Thr) c.293G>C (p.Arg98Thr) c.520G>C | |
| 4 | g.150844107C>T | CA358450496 | LRBA | c.4562G>A (p.Arg1521Lys) n.2889G>A c.2276G>A (p.Arg759Lys) c.293G>A (p.Arg98Lys) c.520G>A | |
| 4 | g.150844108T>A | CA358450499 | LRBA | c.4561A>T (p.Arg1521Ter) n.2888A>T c.2275A>T (p.Arg759Ter) c.292A>T (p.Arg98Ter) c.519A>T | |
| 4 | g.150844108T>C | CA358450500 | LRBA | c.4561A>G (p.Arg1521Gly) n.2888A>G c.2275A>G (p.Arg759Gly) c.292A>G (p.Arg98Gly) c.519A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.150844108T>G | CA441758188 | LRBA | c.4561A>C (p.Arg1521=) n.2888A>C c.2275A>C (p.Arg759=) c.292A>C (p.Arg98=) c.519A>C | |
| 4 | g.150844108T= | CA1503628093 | LRBA | c.4561A= (p.Arg1521=) n.2888A= c.2275A= (p.Arg759=) c.292A= (p.Arg98=) c.519A= | |
| 4 | g.150844109G>A | CA441758190 | LRBA | c.4560C>T (p.Phe1520=) n.2887C>T c.2274C>T (p.Phe758=) c.291C>T (p.Phe97=) c.518C>T | gnomAD v4 |
| 4 | g.150844109G>C | CA358450501 | LRBA | c.4560C>G (p.Phe1520Leu) n.2887C>G c.2274C>G (p.Phe758Leu) c.291C>G (p.Phe97Leu) c.518C>G | |
| 4 | g.150844109G>T | CA358450502 | LRBA | c.4560C>A (p.Phe1520Leu) n.2887C>A c.2274C>A (p.Phe758Leu) c.291C>A (p.Phe97Leu) c.518C>A | gnomAD v4 |
| 4 | g.150844110A>C | CA358450503 | LRBA | c.4559T>G (p.Phe1520Cys) n.2886T>G c.2273T>G (p.Phe758Cys) c.290T>G (p.Phe97Cys) c.517T>G | |
| 4 | g.150844110A>G | CA358450504 | LRBA | c.4559T>C (p.Phe1520Ser) n.2886T>C c.2273T>C (p.Phe758Ser) c.290T>C (p.Phe97Ser) c.517T>C | gnomAD v4 |
| 4 | g.150844110A>T | CA358450505 | LRBA | c.4559T>A (p.Phe1520Tyr) n.2886T>A c.2273T>A (p.Phe758Tyr) c.290T>A (p.Phe97Tyr) c.517T>A | |
| 4 | g.150844111A>C | CA358450506 | LRBA | c.4558T>G (p.Phe1520Val) n.2885T>G c.2272T>G (p.Phe758Val) c.289T>G (p.Phe97Val) c.516T>G | |
| 4 | g.150844111A>G | CA358450507 | LRBA | c.4558T>C (p.Phe1520Leu) n.2885T>C c.2272T>C (p.Phe758Leu) c.289T>C (p.Phe97Leu) c.516T>C | |
| 4 | g.150844111A>T | CA358450508 | LRBA | c.4558T>A (p.Phe1520Ile) n.2885T>A c.2272T>A (p.Phe758Ile) c.289T>A (p.Phe97Ile) c.516T>A | |
| 4 | g.150844112A>C | CA441758196 | LRBA | c.4557T>G (p.Val1519=) n.2884T>G c.2271T>G (p.Val757=) c.288T>G (p.Val96=) c.515T>G | |
| 4 | g.150844112A>G | CA441758197 | LRBA | c.4557T>C (p.Val1519=) n.2884T>C c.2271T>C (p.Val757=) c.288T>C (p.Val96=) c.515T>C | gnomAD v4 |
| 4 | g.150844112A>T | CA441758198 | LRBA | c.4557T>A (p.Val1519=) n.2884T>A c.2271T>A (p.Val757=) c.288T>A (p.Val96=) c.515T>A | |
| 4 | g.150844113A>C | CA358450509 | LRBA | c.4556T>G (p.Val1519Gly) n.2883T>G c.2270T>G (p.Val757Gly) c.287T>G (p.Val96Gly) c.514T>G | |
| 4 | g.150844113A>G | CA358450510 | LRBA | c.4556T>C (p.Val1519Ala) n.2883T>C c.2270T>C (p.Val757Ala) c.287T>C (p.Val96Ala) c.514T>C | |
| 4 | g.150844113A>T | CA358450511 | LRBA | c.4556T>A (p.Val1519Asp) n.2883T>A c.2270T>A (p.Val757Asp) c.287T>A (p.Val96Asp) c.514T>A | |
| 4 | g.150844114C>A | CA358450514 | LRBA | c.4555G>T (p.Val1519Phe) n.2882G>T c.2269G>T (p.Val757Phe) c.286G>T (p.Val96Phe) c.513G>T | |
| 4 | g.150844114C= | CA1503628100 | LRBA | c.4555G= (p.Val1519=) n.2882G= c.2269G= (p.Val757=) c.286G= (p.Val96=) c.513G= | |
| 4 | g.150844114C>G | CA358450513 | LRBA | c.4555G>C (p.Val1519Leu) n.2882G>C c.2269G>C (p.Val757Leu) c.286G>C (p.Val96Leu) c.513G>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.150844114C>T | CA358450512 | LRBA | c.4555G>A (p.Val1519Ile) n.2882G>A c.2269G>A (p.Val757Ile) c.286G>A (p.Val96Ile) c.513G>A | |
| 4 | g.150844115A>C | CA441758202 | LRBA | c.4554T>G (p.Val1518=) n.2881T>G c.2268T>G (p.Val756=) c.285T>G (p.Val95=) c.512T>G | |
| 4 | g.150844115A>G | CA441758203 | LRBA | c.4554T>C (p.Val1518=) n.2881T>C c.2268T>C (p.Val756=) c.285T>C (p.Val95=) c.512T>C | |
| 4 | g.150844115A>T | CA441758205 | LRBA | c.4554T>A (p.Val1518=) n.2881T>A c.2268T>A (p.Val756=) c.285T>A (p.Val95=) c.512T>A | |
| 4 | g.150844116A>C | CA358450515 | LRBA | c.4553T>G (p.Val1518Gly) n.2880T>G c.2267T>G (p.Val756Gly) c.284T>G (p.Val95Gly) c.511T>G | |
| 4 | g.150844116A>G | CA358450516 | LRBA | c.4553T>C (p.Val1518Ala) n.2880T>C c.2267T>C (p.Val756Ala) c.284T>C (p.Val95Ala) c.511T>C | |
| 4 | g.150844116A>T | CA358450517 | LRBA | c.4553T>A (p.Val1518Asp) n.2880T>A c.2267T>A (p.Val756Asp) c.284T>A (p.Val95Asp) c.511T>A | |
| 4 | g.150844117C>A | CA358450518 | LRBA | c.4552G>T (p.Val1518Phe) n.2879G>T c.2266G>T (p.Val756Phe) c.283G>T (p.Val95Phe) c.510G>T | dbSNP gnomAD v4 |
| 4 | g.150844117C= | CA1503628108 | LRBA | c.4552G= (p.Val1518=) n.2879G= c.2266G= (p.Val756=) c.283G= (p.Val95=) c.510G= | |
| 4 | g.150844117C>G | CA358450519 | LRBA | c.4552G>C (p.Val1518Leu) n.2879G>C c.2266G>C (p.Val756Leu) c.283G>C (p.Val95Leu) c.510G>C | |
| 4 | g.150844117C>T | CA358450520 | LRBA | c.4552G>A (p.Val1518Ile) n.2879G>A c.2266G>A (p.Val756Ile) c.283G>A (p.Val95Ile) c.510G>A | gnomAD v4 |
| 4 | g.150844118T>A | CA441758210 | LRBA | c.4551A>T (p.Ala1517=) n.2878A>T c.2265A>T (p.Ala755=) c.282A>T (p.Ala94=) c.509A>T | |
| 4 | g.150844118T>C | CA441758212 | LRBA | c.4551A>G (p.Ala1517=) n.2878A>G c.2265A>G (p.Ala755=) c.282A>G (p.Ala94=) c.509A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.150844118T>G | CA441758211 | LRBA | c.4551A>C (p.Ala1517=) n.2878A>C c.2265A>C (p.Ala755=) c.282A>C (p.Ala94=) c.509A>C | |
| 4 | g.150844118T= | CA1503628113 | LRBA | c.4551A= (p.Ala1517=) n.2878A= c.2265A= (p.Ala755=) c.282A= (p.Ala94=) c.509A= | |
| 4 | g.150844119G>A | CA358450521 | LRBA | c.4550C>T (p.Ala1517Val) n.2877C>T c.2264C>T (p.Ala755Val) c.281C>T (p.Ala94Val) c.508C>T | gnomAD v4 |
| 4 | g.150844119G>C | CA358450522 | LRBA | c.4550C>G (p.Ala1517Gly) n.2877C>G c.2264C>G (p.Ala755Gly) c.281C>G (p.Ala94Gly) c.508C>G | gnomAD v4 |
| 4 | g.150844119G>T | CA358450523 | LRBA | c.4550C>A (p.Ala1517Glu) n.2877C>A c.2264C>A (p.Ala755Glu) c.281C>A (p.Ala94Glu) c.508C>A | dbSNP gnomAD v4 |
| 4 | g.150844120C>A | CA358450524 | LRBA | c.4549G>T (p.Ala1517Ser) n.2876G>T c.2263G>T (p.Ala755Ser) c.280G>T (p.Ala94Ser) c.507G>T | gnomAD v4 |
| 4 | g.150844120C= | CA1503628115 | LRBA | c.4549G= (p.Ala1517=) n.2876G= c.2263G= (p.Ala755=) c.280G= (p.Ala94=) c.507G= | |
| 4 | g.150844120C>G | CA358450525 | LRBA | c.4549G>C (p.Ala1517Pro) n.2876G>C c.2263G>C (p.Ala755Pro) c.280G>C (p.Ala94Pro) c.507G>C | |
| 4 | g.150844120C>T | CA107808725 | LRBA | c.4549G>A (p.Ala1517Thr) n.2876G>A c.2263G>A (p.Ala755Thr) c.280G>A (p.Ala94Thr) c.507G>A | dbSNP gnomAD v4 |
| 4 | g.150844122del | CA2672339884 | LRBA | c.4549del (p.Ala1517GlnfsTer7) n.2876del c.2263del (p.Ala755GlnfsTer7) c.280del (p.Ala94GlnfsTer7) c.507del | gnomAD v4 |
| 4 | g.150844121C>A | CA358450526 | LRBA | c.4548G>T (p.Arg1516Ser) n.2875G>T c.2262G>T (p.Arg754Ser) c.279G>T (p.Arg93Ser) c.506G>T | |
| 4 | g.150844121C= | CA1503628119 | LRBA | c.4548G= (p.Arg1516=) n.2875G= c.2262G= (p.Arg754=) c.279G= (p.Arg93=) c.506G= | |
| 4 | g.150844121C>G | CA358450527 | LRBA | c.4548G>C (p.Arg1516Ser) n.2875G>C c.2262G>C (p.Arg754Ser) c.279G>C (p.Arg93Ser) c.506G>C | |
| 4 | g.150844121C>T | CA441758215 | LRBA | c.4548G>A (p.Arg1516=) n.2875G>A c.2262G>A (p.Arg754=) c.279G>A (p.Arg93=) c.506G>A | dbSNP |
| 4 | g.150844122C>A | CA358450529 | LRBA | c.4547G>T (p.Arg1516Met) n.2874G>T c.2261G>T (p.Arg754Met) c.278G>T (p.Arg93Met) c.505G>T | gnomAD v4 |
| 4 | g.150844122C= | CA1503628122 | LRBA | c.4547G= (p.Arg1516=) n.2874G= c.2261G= (p.Arg754=) c.278G= (p.Arg93=) c.505G= | |
| 4 | g.150844122C>G | CA358450530 | LRBA | c.4547G>C (p.Arg1516Thr) n.2874G>C c.2261G>C (p.Arg754Thr) c.278G>C (p.Arg93Thr) c.505G>C | |
| 4 | g.150844122C>T | CA358450528 | LRBA | c.4547G>A (p.Arg1516Lys) n.2874G>A c.2261G>A (p.Arg754Lys) c.278G>A (p.Arg93Lys) c.505G>A | dbSNP |
| 4 | g.150844123T>A | CA358450531 | LRBA | c.4546A>T (p.Arg1516Trp) n.2873A>T c.2260A>T (p.Arg754Trp) c.277A>T (p.Arg93Trp) c.504A>T | |
| 4 | g.150844123T>C | CA358450532 | LRBA | c.4546A>G (p.Arg1516Gly) n.2873A>G c.2260A>G (p.Arg754Gly) c.277A>G (p.Arg93Gly) c.504A>G | |
| 4 | g.150844123T>G | CA441758216 | LRBA | c.4546A>C (p.Arg1516=) n.2873A>C c.2260A>C (p.Arg754=) c.277A>C (p.Arg93=) c.504A>C | |
| 4 | g.150844124A>C | CA441758219 | LRBA | c.4545T>G (p.Leu1515=) n.2872T>G c.2259T>G (p.Leu753=) c.276T>G (p.Leu92=) c.503T>G | |
| 4 | g.150844124A>G | CA441758220 | LRBA | c.4545T>C (p.Leu1515=) n.2872T>C c.2259T>C (p.Leu753=) c.276T>C (p.Leu92=) c.503T>C | |
| 4 | g.150844124A>T | CA441758221 | LRBA | c.4545T>A (p.Leu1515=) n.2872T>A c.2259T>A (p.Leu753=) c.276T>A (p.Leu92=) c.503T>A | |
| 4 | g.150844125del | CA2672339885 | LRBA | c.4545del (p.Arg1516GlyfsTer8) n.2872del c.2259del (p.Arg754GlyfsTer8) c.276del (p.Arg93GlyfsTer8) c.503del | gnomAD v4 |
| 4 | g.150844125A>C | CA358450533 | LRBA | c.4544T>G (p.Leu1515Arg) n.2871T>G c.2258T>G (p.Leu753Arg) c.275T>G (p.Leu92Arg) c.502T>G | |
| 4 | g.150844125A>G | CA358450534 | LRBA | c.4544T>C (p.Leu1515Pro) n.2871T>C c.2258T>C (p.Leu753Pro) c.275T>C (p.Leu92Pro) c.502T>C | gnomAD v4 |
| 4 | g.150844125A>T | CA358450535 | LRBA | c.4544T>A (p.Leu1515His) n.2871T>A c.2258T>A (p.Leu753His) c.275T>A (p.Leu92His) c.502T>A | |
| 4 | g.150844126G>A | CA358450536 | LRBA | c.4543C>T (p.Leu1515Phe) n.2870C>T c.2257C>T (p.Leu753Phe) c.274C>T (p.Leu92Phe) c.501C>T | |
| 4 | g.150844126G>C | CA358450537 | LRBA | c.4543C>G (p.Leu1515Val) n.2870C>G c.2257C>G (p.Leu753Val) c.274C>G (p.Leu92Val) c.501C>G | |
| 4 | g.150844126G>T | CA358450538 | LRBA | c.4543C>A (p.Leu1515Ile) n.2870C>A c.2257C>A (p.Leu753Ile) c.274C>A (p.Leu92Ile) c.501C>A | gnomAD v4 |
| 4 | g.150844127C>A | CA3102729 | LRBA | c.4542G>T (p.Arg1514=) n.2869G>T c.2256G>T (p.Arg752=) c.273G>T (p.Arg91=) c.500G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.150844127C= | CA1503628131 | LRBA | c.4542G= (p.Arg1514=) n.2869G= c.2256G= (p.Arg752=) c.273G= (p.Arg91=) c.500G= | |
| 4 | g.150844127C>G | CA441758225 | LRBA | c.4542G>C (p.Arg1514=) n.2869G>C c.2256G>C (p.Arg752=) c.273G>C (p.Arg91=) c.500G>C | |
| 4 | g.150844127C>T | CA441758226 | LRBA | c.4542G>A (p.Arg1514=) n.2869G>A c.2256G>A (p.Arg752=) c.273G>A (p.Arg91=) c.500G>A | gnomAD v4 |
| 4 | g.150844128C>A | CA358450539 | LRBA | c.4541G>T (p.Arg1514Leu) n.2868G>T c.2255G>T (p.Arg752Leu) c.272G>T (p.Arg91Leu) c.499G>T | gnomAD v4 |
| 4 | g.150844128C= | CA1503628134 | LRBA | c.4541G= (p.Arg1514=) n.2868G= c.2255G= (p.Arg752=) c.272G= (p.Arg91=) c.499G= | |
| 4 | g.150844128C>G | CA358450540 | LRBA | c.4541G>C (p.Arg1514Pro) n.2868G>C c.2255G>C (p.Arg752Pro) c.272G>C (p.Arg91Pro) c.499G>C | |
| 4 | g.150844128C>T | CA3102730 | LRBA | c.4541G>A (p.Arg1514Gln) n.2868G>A c.2255G>A (p.Arg752Gln) c.272G>A (p.Arg91Gln) c.499G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.150844129G>A | CA3102731 | LRBA | c.4540C>T (p.Arg1514Trp) n.2867C>T c.2254C>T (p.Arg752Trp) c.271C>T (p.Arg91Trp) c.498C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.150844129G>C | CA358450541 | LRBA | c.4540C>G (p.Arg1514Gly) n.2867C>G c.2254C>G (p.Arg752Gly) c.271C>G (p.Arg91Gly) c.498C>G | |
| 4 | g.150844129G= | CA1503628135 | LRBA | c.4540C= (p.Arg1514=) n.2867C= c.2254C= (p.Arg752=) c.271C= (p.Arg91=) c.498C= | |
| 4 | g.150844129G>T | CA441758229 | LRBA | c.4540C>A (p.Arg1514=) n.2867C>A c.2254C>A (p.Arg752=) c.271C>A (p.Arg91=) c.498C>A | |
| 4 | g.150844130A>C | CA358450542 | LRBA | c.4539T>G (p.Asn1513Lys) n.2866T>G c.2253T>G (p.Asn751Lys) c.270T>G (p.Asn90Lys) c.497T>G | |
| 4 | g.150844130A>G | CA441758230 | LRBA | c.4539T>C (p.Asn1513=) n.2866T>C c.2253T>C (p.Asn751=) c.270T>C (p.Asn90=) c.497T>C | |
| 4 | g.150844130A>T | CA358450543 | LRBA | c.4539T>A (p.Asn1513Lys) n.2866T>A c.2253T>A (p.Asn751Lys) c.270T>A (p.Asn90Lys) c.497T>A | |
| 4 | g.150844131T>A | CA358450544 | LRBA | c.4538A>T (p.Asn1513Ile) n.2865A>T c.2252A>T (p.Asn751Ile) c.269A>T (p.Asn90Ile) c.496A>T | |
| 4 | g.150844131T>C | CA358450545 | LRBA | c.4538A>G (p.Asn1513Ser) n.2865A>G c.2252A>G (p.Asn751Ser) c.269A>G (p.Asn90Ser) c.496A>G | gnomAD v4 |
| 4 | g.150844131T>G | CA358450546 | LRBA | c.4538A>C (p.Asn1513Thr) n.2865A>C c.2252A>C (p.Asn751Thr) c.269A>C (p.Asn90Thr) c.496A>C | |
| 4 | g.150844132T>A | CA358450547 | LRBA | c.4537A>T (p.Asn1513Tyr) n.2864A>T c.2251A>T (p.Asn751Tyr) c.268A>T (p.Asn90Tyr) c.495A>T | |
| 4 | g.150844132T>C | CA358450548 | LRBA | c.4537A>G (p.Asn1513Asp) n.2864A>G c.2251A>G (p.Asn751Asp) c.268A>G (p.Asn90Asp) c.495A>G | |
| 4 | g.150844132T>G | CA358450549 | LRBA | c.4537A>C (p.Asn1513His) n.2864A>C c.2251A>C (p.Asn751His) c.268A>C (p.Asn90His) c.495A>C | |
| 4 | g.150844133A>C | CA358450550 | LRBA | c.4536T>G (p.Ile1512Met) n.2863T>G c.2250T>G (p.Ile750Met) c.267T>G (p.Ile89Met) c.494T>G | |
| 4 | g.150844133A>G | CA441758233 | LRBA | c.4536T>C (p.Ile1512=) n.2863T>C c.2250T>C (p.Ile750=) c.267T>C (p.Ile89=) c.494T>C | |
| 4 | g.150844133A>T | CA441758234 | LRBA | c.4536T>A (p.Ile1512=) n.2863T>A c.2250T>A (p.Ile750=) c.267T>A (p.Ile89=) c.494T>A | |
| 4 | g.150844134A>C | CA358450551 | LRBA | c.4535T>G (p.Ile1512Ser) n.2862T>G c.2249T>G (p.Ile750Ser) c.266T>G (p.Ile89Ser) c.493T>G | |
| 4 | g.150844134A>G | CA358450552 | LRBA | c.4535T>C (p.Ile1512Thr) n.2862T>C c.2249T>C (p.Ile750Thr) c.266T>C (p.Ile89Thr) c.493T>C | |
| 4 | g.150844134A>T | CA358450553 | LRBA | c.4535T>A (p.Ile1512Asn) n.2862T>A c.2249T>A (p.Ile750Asn) c.266T>A (p.Ile89Asn) c.493T>A | |
| 4 | g.150844135T>A | CA358450555 | LRBA | c.4534A>T (p.Ile1512Phe) n.2861A>T c.2248A>T (p.Ile750Phe) c.265A>T (p.Ile89Phe) c.492A>T | gnomAD v4 |
| 4 | g.150844135T>C | CA3102732 | LRBA | c.4534A>G (p.Ile1512Val) n.2861A>G c.2248A>G (p.Ile750Val) c.265A>G (p.Ile89Val) c.492A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.150844135T>G | CA358450554 | LRBA | c.4534A>C (p.Ile1512Leu) n.2861A>C c.2248A>C (p.Ile750Leu) c.265A>C (p.Ile89Leu) c.492A>C | |
| 4 | g.150844135T= | CA1503628142 | LRBA | c.4534A= (p.Ile1512=) n.2861A= c.2248A= (p.Ile750=) c.265A= (p.Ile89=) c.492A= | |
| 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 |