UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72225007_72225104del | CA2614950795 | INPPL1 | c.23_120del (p.Pro8ArgfsTer?) c.-99_-2del (n.-99_-2del) | gnomAD v4 |
| 11 | g.72225063_72225089del | CA2614950808 | INPPL1 | c.79_105del (p.Ser27_Leu35del) c.-43_-17del (n.-43_-17del) | gnomAD v4 |
| 11 | g.72225073_72225099del | CA2614950810 | INPPL1 | c.89_115del (p.Ala30_Ala38del) c.-33_-7del (n.-33_-7del) | gnomAD v4 |
| 11 | g.72225070_72225098delinsCGGCCGCGGAGGAGCTGCTGGCCCGGGCG | CA1981895430 | INPPL1 | c.86_114delinsCGGCCGCGGAGGAGCTGCTGGCCCGGGCG (p.Ala29=) n.2_30delinsCGGCCGCGGAGGAGCTGCTGGCCCGGGCG c.-36_-8delinsCGGCCGCGGAGGAGCTGCTGGCCCGGGCG (n.-36_-8delinsCGGCCGCGGAGGAGCTGCTGGCCCGGGCG) | |
| 11 | g.72225078_72225105del | CA213058 | INPPL1 | c.94_121del (p.Glu32MetfsTer?) n.10_37del c.-28_-1del (n.-28_-1del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225074_72225081del | CA2614950813 | INPPL1 | c.90_97del (p.Glu32AlafsTer?) n.6_13del c.-32_-25del (n.-32_-25del) | gnomAD v4 |
| 11 | g.72225078G>A | CA381755258 | INPPL1 | c.94G>A (p.Glu32Lys) n.10G>A c.-28G>A (n.-28G>A) | gnomAD v4 |
| 11 | g.72225078G>C | CA381755259 | INPPL1 | c.94G>C (p.Glu32Gln) n.10G>C c.-28G>C (n.-28G>C) | gnomAD v4 |
| 11 | g.72225078G>T | CA381755260 | INPPL1 | c.94G>T (p.Glu32Ter) n.10G>T c.-28G>T (n.-28G>T) | gnomAD v4 |
| 11 | g.72225079A>C | CA381755264 | INPPL1 | c.95A>C (p.Glu32Ala) n.11A>C c.-27A>C (n.-27A>C) | |
| 11 | g.72225079A>G | CA381755272 | INPPL1 | c.95A>G (p.Glu32Gly) n.11A>G c.-27A>G (n.-27A>G) | gnomAD v4 |
| 11 | g.72225079A>T | CA381755275 | INPPL1 | c.95A>T (p.Glu32Val) n.11A>T c.-27A>T (n.-27A>T) | gnomAD v4 |
| 11 | g.72225080G>A | CA475606292 | INPPL1 | c.96G>A (p.Glu32=) n.12G>A c.-26G>A (n.-26G>A) | gnomAD v4 |
| 11 | g.72225080G>C | CA381755287 | INPPL1 | c.96G>C (p.Glu32Asp) n.12G>C c.-26G>C (n.-26G>C) | |
| 11 | g.72225080G>T | CA381755279 | INPPL1 | c.96G>T (p.Glu32Asp) n.12G>T c.-26G>T (n.-26G>T) | gnomAD v4 |
| 11 | g.72225081G>A | CA381755292 | INPPL1 | c.97G>A (p.Glu33Lys) n.13G>A c.-25G>A (n.-25G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225081G>C | CA381755295 | INPPL1 | c.97G>C (p.Glu33Gln) n.13G>C c.-25G>C (n.-25G>C) | |
| 11 | g.72225081G= | CA1981895436 | INPPL1 | c.97G= (p.Glu33=) n.13G= c.-25G= (n.-25G=) | |
| 11 | g.72225081G>T | CA381755299 | INPPL1 | c.97G>T (p.Glu33Ter) n.13G>T c.-25G>T (n.-25G>T) | gnomAD v4 |
| 11 | g.72225082A>C | CA381755301 | INPPL1 | c.98A>C (p.Glu33Ala) n.14A>C c.-24A>C (n.-24A>C) | gnomAD v4 |
| 11 | g.72225082A>G | CA381755305 | INPPL1 | c.98A>G (p.Glu33Gly) n.14A>G c.-24A>G (n.-24A>G) | gnomAD v4 |
| 11 | g.72225082A>T | CA381755306 | INPPL1 | c.98A>T (p.Glu33Val) n.14A>T c.-24A>T (n.-24A>T) | |
| 11 | g.72225083G>A | CA475606293 | INPPL1 | c.99G>A (p.Glu33=) n.15G>A c.-23G>A (n.-23G>A) | gnomAD v4 |
| 11 | g.72225083G>C | CA381755310 | INPPL1 | c.99G>C (p.Glu33Asp) n.15G>C c.-23G>C (n.-23G>C) | |
| 11 | g.72225083G>T | CA381755313 | INPPL1 | c.99G>T (p.Glu33Asp) n.15G>T c.-23G>T (n.-23G>T) | gnomAD v4 |
| 11 | g.72225084C>A | CA381755316 | INPPL1 | c.100C>A (p.Leu34Met) n.16C>A c.-22C>A (n.-22C>A) | gnomAD v4 |
| 11 | g.72225084C= | CA1981895437 | INPPL1 | c.100C= (p.Leu34=) n.16C= c.-22C= (n.-22C=) | |
| 11 | g.72225084C>G | CA381755319 | INPPL1 | c.100C>G (p.Leu34Val) n.16C>G c.-22C>G (n.-22C>G) | |
| 11 | g.72225084C>T | CA475606294 | INPPL1 | c.100C>T (p.Leu34=) n.16C>T c.-22C>T (n.-22C>T) | dbSNP gnomAD v4 |
| 11 | g.72225085T>A | CA381755323 | INPPL1 | c.101T>A (p.Leu34Gln) n.17T>A c.-21T>A (n.-21T>A) | |
| 11 | g.72225085T>C | CA381755324 | INPPL1 | c.101T>C (p.Leu34Pro) n.17T>C c.-21T>C (n.-21T>C) | gnomAD v4 |
| 11 | g.72225085T>G | CA381755326 | INPPL1 | c.101T>G (p.Leu34Arg) n.17T>G c.-21T>G (n.-21T>G) | ClinVar |
| 11 | g.72225086G>A | CA475606295 | INPPL1 | c.102G>A (p.Leu34=) n.18G>A c.-20G>A (n.-20G>A) | gnomAD v4 |
| 11 | g.72225086G>C | CA475606296 | INPPL1 | c.102G>C (p.Leu34=) n.18G>C c.-20G>C (n.-20G>C) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.72225086G= | CA1981895438 | INPPL1 | c.102G= (p.Leu34=) n.18G= c.-20G= (n.-20G=) | |
| 11 | g.72225086G>T | CA475606297 | INPPL1 | c.102G>T (p.Leu34=) n.18G>T c.-20G>T (n.-20G>T) | gnomAD v4 |
| 11 | g.72225087C>A | CA381755327 | INPPL1 | c.103C>A (p.Leu35Met) n.19C>A c.-19C>A (n.-19C>A) | gnomAD v4 |
| 11 | g.72225087C= | CA1981895439 | INPPL1 | c.103C= (p.Leu35=) n.19C= c.-19C= (n.-19C=) | |
| 11 | g.72225087C>G | CA381755328 | INPPL1 | c.103C>G (p.Leu35Val) n.19C>G c.-19C>G (n.-19C>G) | |
| 11 | g.72225087C>T | CA475606298 | INPPL1 | c.103C>T (p.Leu35=) n.19C>T c.-19C>T (n.-19C>T) | dbSNP gnomAD v4 |
| 11 | g.72225088T>A | CA381755333 | INPPL1 | c.104T>A (p.Leu35Gln) n.20T>A c.-18T>A (n.-18T>A) | gnomAD v4 |
| 11 | g.72225088T>C | CA381755337 | INPPL1 | c.104T>C (p.Leu35Pro) n.20T>C c.-18T>C (n.-18T>C) | gnomAD v4 |
| 11 | g.72225088T>G | CA381755334 | INPPL1 | c.104T>G (p.Leu35Arg) n.20T>G c.-18T>G (n.-18T>G) | |
| 11 | g.72225089G>A | CA475606299 | INPPL1 | c.105G>A (p.Leu35=) n.21G>A c.-17G>A (n.-17G>A) | gnomAD v4 |
| 11 | g.72225089G>C | CA475606300 | INPPL1 | c.105G>C (p.Leu35=) n.21G>C c.-17G>C (n.-17G>C) | |
| 11 | g.72225089G>T | CA475606301 | INPPL1 | c.105G>T (p.Leu35=) n.21G>T c.-17G>T (n.-17G>T) | gnomAD v4 |
| 11 | g.72225089_72225096del | CA2614950814 | INPPL1 | c.105_112del (p.Ala36GlyfsTer?) n.21_28del c.-17_-10del (n.-17_-10del) | gnomAD v4 |
| 11 | g.72225090G>A | CA381755340 | INPPL1 | c.106G>A (p.Ala36Thr) n.22G>A c.-16G>A (n.-16G>A) | dbSNP gnomAD v4 |
| 11 | g.72225090G>C | CA381755342 | INPPL1 | c.106G>C (p.Ala36Pro) n.22G>C c.-16G>C (n.-16G>C) | |
| 11 | g.72225090G= | CA1981895440 | INPPL1 | c.106G= (p.Ala36=) n.22G= c.-16G= (n.-16G=) | |
| 11 | g.72225090G>T | CA381755341 | INPPL1 | c.106G>T (p.Ala36Ser) n.22G>T c.-16G>T (n.-16G>T) | gnomAD v4 |
| 11 | g.72225091C>A | CA6169558 | INPPL1 | c.107C>A (p.Ala36Asp) n.23C>A c.-15C>A (n.-15C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72225091C= | CA1981895441 | INPPL1 | c.107C= (p.Ala36=) n.23C= c.-15C= (n.-15C=) | |
| 11 | g.72225091C>G | CA381755350 | INPPL1 | c.107C>G (p.Ala36Gly) n.23C>G c.-15C>G (n.-15C>G) | |
| 11 | g.72225091C>T | CA381755348 | INPPL1 | c.107C>T (p.Ala36Val) n.23C>T c.-15C>T (n.-15C>T) | gnomAD v4 |
| 11 | g.72225092C>A | CA475606302 | INPPL1 | c.108C>A (p.Ala36=) n.24C>A c.-14C>A (n.-14C>A) | gnomAD v4 |
| 11 | g.72225092C>G | CA475606303 | INPPL1 | c.108C>G (p.Ala36=) n.24C>G c.-14C>G (n.-14C>G) | gnomAD v4 |
| 11 | g.72225092C>T | CA475606304 | INPPL1 | c.108C>T (p.Ala36=) n.24C>T c.-14C>T (n.-14C>T) | gnomAD v4 |
| 11 | g.72225093C>A | CA475606305 | INPPL1 | c.109C>A (p.Arg37=) n.25C>A c.-13C>A (n.-13C>A) | gnomAD v4 |
| 11 | g.72225093C= | CA1981895442 | INPPL1 | c.109C= (p.Arg37=) n.25C= c.-13C= (n.-13C=) | |
| 11 | g.72225093C>G | CA381755352 | INPPL1 | c.109C>G (p.Arg37Gly) n.25C>G c.-13C>G (n.-13C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72225093C>T | CA381755354 | INPPL1 | c.109C>T (p.Arg37Trp) n.25C>T c.-13C>T (n.-13C>T) | dbSNP gnomAD v4 |
| 11 | g.72225094G>A | CA381755356 | INPPL1 | c.110G>A (p.Arg37Gln) n.26G>A c.-12G>A (n.-12G>A) | dbSNP gnomAD v4 |
| 11 | g.72225094G>C | CA381755363 | INPPL1 | c.110G>C (p.Arg37Pro) n.26G>C c.-12G>C (n.-12G>C) | dbSNP gnomAD v4 |
| 11 | g.72225094G= | CA1981895443 | INPPL1 | c.110G= (p.Arg37=) n.26G= c.-12G= (n.-12G=) | |
| 11 | g.72225094G>T | CA381755366 | INPPL1 | c.110G>T (p.Arg37Leu) n.26G>T c.-12G>T (n.-12G>T) | gnomAD v4 |
| 11 | g.72225095G>A | CA475606306 | INPPL1 | c.111G>A (p.Arg37=) n.27G>A c.-11G>A (n.-11G>A) | ClinVar gnomAD v4 |
| 11 | g.72225095G>C | CA475606307 | INPPL1 | c.111G>C (p.Arg37=) n.27G>C c.-11G>C (n.-11G>C) | |
| 11 | g.72225095G>T | CA475606308 | INPPL1 | c.111G>T (p.Arg37=) n.27G>T c.-11G>T (n.-11G>T) | gnomAD v4 |
| 11 | g.72225096G>A | CA381755369 | INPPL1 | c.112G>A (p.Ala38Thr) n.28G>A c.-10G>A (n.-10G>A) | gnomAD v4 |
| 11 | g.72225096G>C | CA381755371 | INPPL1 | c.112G>C (p.Ala38Pro) n.28G>C c.-10G>C (n.-10G>C) | |
| 11 | g.72225096G>T | CA381755441 | INPPL1 | c.112G>T (p.Ala38Ser) n.28G>T c.-10G>T (n.-10G>T) | gnomAD v4 |
| 11 | g.72225097C>A | CA381755445 | INPPL1 | c.113C>A (p.Ala38Glu) n.29C>A c.-9C>A (n.-9C>A) | gnomAD v4 |
| 11 | g.72225097C= | CA1981895444 | INPPL1 | c.113C= (p.Ala38=) n.29C= c.-9C= (n.-9C=) | |
| 11 | g.72225097C>G | CA381755449 | INPPL1 | c.113C>G (p.Ala38Gly) n.29C>G c.-9C>G (n.-9C>G) | gnomAD v4 |
| 11 | g.72225097C>T | CA224429175 | INPPL1 | c.113C>T (p.Ala38Val) n.29C>T c.-9C>T (n.-9C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225098G>A | CA475606311 | INPPL1 | c.114G>A (p.Ala38=) n.30G>A c.-8G>A (n.-8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72225098G>C | CA475606310 | INPPL1 | c.114G>C (p.Ala38=) n.30G>C c.-8G>C (n.-8G>C) | |
| 11 | g.72225098G= | CA1981895445 | INPPL1 | c.114G= (p.Ala38=) n.30G= c.-8G= (n.-8G=) | |
| 11 | g.72225098G>T | CA475606309 | INPPL1 | c.114G>T (p.Ala38=) n.30G>T c.-8G>T (n.-8G>T) | gnomAD v4 |
| 11 | g.72225100del | CA2614950815 | INPPL1 | c.116del (p.Gly39AlafsTer?) n.32del c.-6del (n.-6del) | gnomAD v4 |
| 11 | g.72225099_72225112del | CA2573147661 | INPPL1 | c.115_128del (p.Gly39LeufsTer?) n.31_44del c.-7_7del | ClinVar dbSNP |
| 11 | g.72225099G>A | CA381755460 | INPPL1 | c.115G>A (p.Gly39Ser) n.31G>A c.-7G>A (n.-7G>A) | gnomAD v4 |
| 11 | g.72225099G>C | CA381755459 | INPPL1 | c.115G>C (p.Gly39Arg) n.31G>C c.-7G>C (n.-7G>C) | |
| 11 | g.72225099G>T | CA381755451 | INPPL1 | c.115G>T (p.Gly39Cys) n.31G>T c.-7G>T (n.-7G>T) | gnomAD v4 |
| 11 | g.72225100G>A | CA381755462 | INPPL1 | c.116G>A (p.Gly39Asp) n.32G>A c.-6G>A (n.-6G>A) | gnomAD v4 |
| 11 | g.72225100G>C | CA381755463 | INPPL1 | c.116G>C (p.Gly39Ala) n.32G>C c.-6G>C (n.-6G>C) | dbSNP |
| 11 | g.72225100G= | CA1981895446 | INPPL1 | c.116G= (p.Gly39=) n.32G= c.-6G= (n.-6G=) | |
| 11 | g.72225100G>T | CA381755464 | INPPL1 | c.116G>T (p.Gly39Val) n.32G>T c.-6G>T (n.-6G>T) | gnomAD v4 |
| 11 | g.72225101C>A | CA475606314 | INPPL1 | c.117C>A (p.Gly39=) n.33C>A c.-5C>A (n.-5C>A) | gnomAD v4 |
| 11 | g.72225101C= | CA1981895447 | INPPL1 | c.117C= (p.Gly39=) n.33C= c.-5C= (n.-5C=) | |
| 11 | g.72225101C>G | CA475606313 | INPPL1 | c.117C>G (p.Gly39=) n.33C>G c.-5C>G (n.-5C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72225101C>T | CA475606312 | INPPL1 | c.117C>T (p.Gly39=) n.33C>T c.-5C>T (n.-5C>T) | gnomAD v4 |
| 11 | g.72225102C>A | CA381755466 | INPPL1 | c.118C>A (p.Arg40Ser) n.34C>A c.-4C>A (n.-4C>A) | gnomAD v4 |
| 11 | g.72225102C>G | CA381755470 | INPPL1 | c.118C>G (p.Arg40Gly) n.34C>G c.-4C>G (n.-4C>G) | |
| 11 | g.72225102C>T | CA381755472 | INPPL1 | c.118C>T (p.Arg40Cys) n.34C>T c.-4C>T (n.-4C>T) | gnomAD v4 |
| 11 | g.72225103G>A | CA381755477 | INPPL1 | c.119G>A (p.Arg40His) n.35G>A c.-3G>A (n.-3G>A) | gnomAD v4 |
| 11 | g.72225103G>C | CA381755481 | INPPL1 | c.119G>C (p.Arg40Pro) n.35G>C c.-3G>C (n.-3G>C) | |
| 11 | g.72225103G>T | CA381755484 | INPPL1 | c.119G>T (p.Arg40Leu) n.35G>T c.-3G>T (n.-3G>T) | gnomAD v4 |
| 11 | g.72225104C>A | CA475606315 | INPPL1 | c.120C>A (p.Arg40=) n.36C>A c.-2C>A (n.-2C>A) | gnomAD v4 |
| 11 | g.72225104C>G | CA475606317 | INPPL1 | c.120C>G (p.Arg40=) n.36C>G c.-2C>G (n.-2C>G) | |
| 11 | g.72225104C>T | CA475606316 | INPPL1 | c.120C>T (p.Arg40=) n.36C>T c.-2C>T (n.-2C>T) | gnomAD v4 |
| 11 | g.72225105G>A | CA381755485 | INPPL1 | c.121G>A (p.Asp41Asn) n.37G>A c.-1G>A (n.-1G>A) | dbSNP gnomAD v4 |
| 11 | g.72225105G>C | CA381755488 | INPPL1 | c.121G>C (p.Asp41His) n.37G>C c.-1G>C (n.-1G>C) | |
| 11 | g.72225105G= | CA1981895448 | INPPL1 | c.121G= (p.Asp41=) n.37G= c.-1G= (n.-1G=) | |
| 11 | g.72225105G>T | CA381755489 | INPPL1 | c.121G>T (p.Asp41Tyr) n.37G>T c.-1G>T (n.-1G>T) | gnomAD v4 |
| 11 | g.72225106A>C | CA381755502 | INPPL1 | c.122A>C (p.Asp41Ala) n.38A>C c.1A>C (p.Met1Leu) | |
| 11 | g.72225106A>G | CA381755499 | INPPL1 | c.122A>G (p.Asp41Gly) n.38A>G c.1A>G (p.Met1Val) | gnomAD v4 |
| 11 | g.72225106A>T | CA381755496 | INPPL1 | c.122A>T (p.Asp41Val) n.38A>T c.1A>T (p.Met1Leu) | |
| 11 | g.72225107T>A | CA381755510 | INPPL1 | c.123T>A (p.Asp41Glu) n.39T>A c.2T>A (p.Met1Lys) | gnomAD v4 |
| 11 | g.72225107T>C | CA475606318 | INPPL1 | c.123T>C (p.Asp41=) n.39T>C c.2T>C (p.Met1Thr) | dbSNP gnomAD v4 |
| 11 | g.72225107T>G | CA381755505 | INPPL1 | c.123T>G (p.Asp41Glu) n.39T>G c.2T>G (p.Met1Arg) | |
| 11 | g.72225107T= | CA1981895449 | INPPL1 | c.123T= (p.Asp41=) n.39T= c.2T= (p.Met1=) | |
| 11 | g.72225108G>A | CA381755512 | INPPL1 | c.124G>A (p.Gly42Ser) n.40G>A c.3G>A (p.Met1Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225108G>C | CA381755515 | INPPL1 | c.124G>C (p.Gly42Arg) n.40G>C c.3G>C (p.Met1Ile) | |
| 11 | g.72225108G= | CA1981895450 | INPPL1 | c.124G= (p.Gly42=) n.40G= c.3G= (p.Met1=) | |
| 11 | g.72225108G>T | CA381755517 | INPPL1 | c.124G>T (p.Gly42Cys) n.40G>T c.3G>T (p.Met1Ile) | gnomAD v4 |
| 11 | g.72225109del | CA2614950816 | INPPL1 | c.125del (p.Gly42AlafsTer?) n.41del c.4del (p.Ala2GlnfsTer?) | gnomAD v4 |
| 11 | g.72225109G>A | CA381755520 | INPPL1 | c.125G>A (p.Gly42Asp) n.41G>A c.4G>A (p.Ala2Thr) | gnomAD v4 |
| 11 | g.72225109G>C | CA381755523 | INPPL1 | c.125G>C (p.Gly42Ala) n.41G>C c.4G>C (p.Ala2Pro) | gnomAD v4 |
| 11 | g.72225109G>T | CA381755524 | INPPL1 | c.125G>T (p.Gly42Val) n.41G>T c.4G>T (p.Ala2Ser) | gnomAD v4 |
| 11 | g.72225110C>A | CA475606319 | INPPL1 | c.126C>A (p.Gly42=) n.42C>A c.5C>A (p.Ala2Glu) | gnomAD v4 |
| 11 | g.72225110C= | CA1981895451 | INPPL1 | c.126C= (p.Gly42=) n.42C= c.5C= (p.Ala2=) | |
| 11 | g.72225110C>G | CA475606320 | INPPL1 | c.126C>G (p.Gly42=) n.42C>G c.5C>G (p.Ala2Gly) | gnomAD v4 |
| 11 | g.72225110C>T | CA475606321 | INPPL1 | c.126C>T (p.Gly42=) n.42C>T c.5C>T (p.Ala2Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72225111A>C | CA381755529 | INPPL1 | c.127A>C (p.Ser43Arg) n.43A>C c.6A>C (p.Ala2=) | gnomAD v4 |
| 11 | g.72225111A>G | CA381755531 | INPPL1 | c.127A>G (p.Ser43Gly) n.43A>G c.6A>G (p.Ala2=) | gnomAD v4 |
| 11 | g.72225111A>T | CA381755535 | INPPL1 | c.127A>T (p.Ser43Cys) n.43A>T c.6A>T (p.Ala2=) | gnomAD v4 |
| 11 | g.72225112G>A | CA381755539 | INPPL1 | c.128G>A (p.Ser43Asn) n.44G>A c.7G>A (p.Ala3Thr) | gnomAD v4 |
| 11 | g.72225112G>C | CA381755542 | INPPL1 | c.128G>C (p.Ser43Thr) n.44G>C c.7G>C (p.Ala3Pro) | |
| 11 | g.72225112G>T | CA381755544 | INPPL1 | c.128G>T (p.Ser43Ile) n.44G>T c.7G>T (p.Ala3Ser) | gnomAD v4 |
| 11 | g.72225113C>A | CA381755550 | INPPL1 | c.129C>A (p.Ser43Arg) n.45C>A c.8C>A (p.Ala3Asp) | gnomAD v4 |
| 11 | g.72225113C= | CA1981895452 | INPPL1 | c.129C= (p.Ser43=) n.45C= c.8C= (p.Ala3=) | |
| 11 | g.72225113C>G | CA381755547 | INPPL1 | c.129C>G (p.Ser43Arg) n.45C>G c.8C>G (p.Ala3Gly) | |
| 11 | g.72225113C>T | CA475606322 | INPPL1 | c.129C>T (p.Ser43=) n.45C>T c.8C>T (p.Ala3Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225114T>A | CA381755555 | INPPL1 | c.130T>A (p.Phe44Ile) n.46T>A c.9T>A (p.Ala3=) | |
| 11 | g.72225114T>C | CA381755558 | INPPL1 | c.130T>C (p.Phe44Leu) n.46T>C c.9T>C (p.Ala3=) | gnomAD v4 |
| 11 | g.72225114T>G | CA381755561 | INPPL1 | c.130T>G (p.Phe44Val) n.46T>G c.9T>G (p.Ala3=) | |
| 11 | g.72225115T>A | CA381755562 | INPPL1 | c.131T>A (p.Phe44Tyr) n.47T>A c.10T>A (p.Ser4Thr) | |
| 11 | g.72225115T>C | CA381755565 | INPPL1 | c.131T>C (p.Phe44Ser) n.47T>C c.10T>C (p.Ser4Pro) | gnomAD v4 |
| 11 | g.72225115T>G | CA381755567 | INPPL1 | c.131T>G (p.Phe44Cys) n.47T>G c.10T>G (p.Ser4Ala) | |
| 11 | g.72225116C>A | CA381755570 | INPPL1 | c.132C>A (p.Phe44Leu) n.48C>A c.11C>A (p.Ser4Tyr) | gnomAD v4 |
| 11 | g.72225116C>G | CA381755572 | INPPL1 | c.132C>G (p.Phe44Leu) n.48C>G c.11C>G (p.Ser4Cys) | |
| 11 | g.72225116C>T | CA475606323 | INPPL1 | c.132C>T (p.Phe44=) n.48C>T c.11C>T (p.Ser4Phe) | gnomAD v4 |
| 11 | g.72225117C>A | CA381755574 | INPPL1 | c.133C>A (p.Leu45Met) n.49C>A c.12C>A (p.Ser4=) | gnomAD v4 |
| 11 | g.72225117C>G | CA381755575 | INPPL1 | c.133C>G (p.Leu45Val) n.49C>G c.12C>G (p.Ser4=) | gnomAD v4 |
| 11 | g.72225117C>T | CA475606324 | INPPL1 | c.133C>T (p.Leu45=) n.49C>T c.12C>T (p.Ser4=) | gnomAD v4 |
| 11 | g.72225118T>A | CA381755576 | INPPL1 | c.134T>A (p.Leu45Gln) n.50T>A c.13T>A (p.Trp5Arg) | gnomAD v4 |
| 11 | g.72225118T>C | CA381755577 | INPPL1 | c.134T>C (p.Leu45Pro) n.50T>C c.13T>C (p.Trp5Arg) | gnomAD v4 |
| 11 | g.72225118T>G | CA381755578 | INPPL1 | c.134T>G (p.Leu45Arg) n.50T>G c.13T>G (p.Trp5Gly) | gnomAD v4 |
| 11 | g.72225119G>A | CA475606326 | INPPL1 | c.135G>A (p.Leu45=) n.51G>A c.14G>A (p.Trp5Ter) | gnomAD v4 |
| 11 | g.72225119G>C | CA475606327 | INPPL1 | c.135G>C (p.Leu45=) n.51G>C c.14G>C (p.Trp5Ser) | |
| 11 | g.72225119G>T | CA475606325 | INPPL1 | c.135G>T (p.Leu45=) n.51G>T c.14G>T (p.Trp5Leu) | gnomAD v4 |
| 11 | g.72225120G>A | CA224429178 | INPPL1 | c.136G>A (p.Val46Ile) n.52G>A c.15G>A (p.Trp5Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72225120G>C | CA381755580 | INPPL1 | c.136G>C (p.Val46Leu) n.52G>C c.15G>C (p.Trp5Cys) | |
| 11 | g.72225120G= | CA1981895453 | INPPL1 | c.136G= (p.Val46=) n.52G= c.15G= (p.Trp5=) | |
| 11 | g.72225120G>T | CA381755579 | INPPL1 | c.136G>T (p.Val46Phe) n.52G>T c.15G>T (p.Trp5Cys) | gnomAD v4 |
| 11 | g.72225121T>A | CA381755582 | INPPL1 | c.137T>A (p.Val46Asp) n.53T>A c.16T>A (p.Ser6Thr) | gnomAD v4 |
| 11 | g.72225121T>C | CA381755584 | INPPL1 | c.137T>C (p.Val46Ala) n.53T>C c.16T>C (p.Ser6Pro) | dbSNP gnomAD v4 |
| 11 | g.72225121T>G | CA381755583 | INPPL1 | c.137T>G (p.Val46Gly) n.53T>G c.16T>G (p.Ser6Ala) | |
| 11 | g.72225121T= | CA1981895454 | INPPL1 | c.137T= (p.Val46=) n.53T= c.16T= (p.Ser6=) | |
| 11 | g.72225122C>A | CA475606328 | INPPL1 | c.138C>A (p.Val46=) n.54C>A c.17C>A (p.Ser6Tyr) | ClinVar gnomAD v4 |
| 11 | g.72225122C>G | CA475606330 | INPPL1 | c.138C>G (p.Val46=) n.54C>G c.17C>G (p.Ser6Cys) | |
| 11 | g.72225122C>T | CA475606329 | INPPL1 | c.138C>T (p.Val46=) n.54C>T c.17C>T (p.Ser6Phe) | gnomAD v4 |
| 11 | g.72225123C>A | CA475606331 | INPPL1 | c.139C>A (p.Arg47=) n.55C>A c.18C>A (p.Ser6=) | gnomAD v4 |
| 11 | g.72225123C= | CA1981895455 | INPPL1 | c.139C= (p.Arg47=) n.55C= c.18C= (p.Ser6=) | |
| 11 | g.72225123C>G | CA381755585 | INPPL1 | c.139C>G (p.Arg47Gly) n.55C>G c.18C>G (p.Ser6=) | |
| 11 | g.72225123C>T | CA381755587 | INPPL1 | c.139C>T (p.Arg47Ter) n.55C>T c.18C>T (p.Ser6=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72225124G>A | CA381755589 | INPPL1 | c.140G>A (p.Arg47Gln) n.56G>A c.19G>A (p.Glu7Lys) | gnomAD v4 |
| 11 | g.72225124G>C | CA381755590 | INPPL1 | c.140G>C (p.Arg47Pro) n.56G>C c.19G>C (p.Glu7Gln) | gnomAD v4 |
| 11 | g.72225124G>T | CA381755591 | INPPL1 | c.140G>T (p.Arg47Leu) n.56G>T c.19G>T (p.Glu7Ter) | gnomAD v4 |
| 11 | g.72225125A>C | CA475606332 | INPPL1 | c.141A>C (p.Arg47=) n.57A>C c.20A>C (p.Glu7Ala) | gnomAD v4 |
| 11 | g.72225125A>G | CA475606333 | INPPL1 | c.141A>G (p.Arg47=) n.57A>G c.20A>G (p.Glu7Gly) | gnomAD v4 |
| 11 | g.72225125A>T | CA475606334 | INPPL1 | c.141A>T (p.Arg47=) n.57A>T c.20A>T (p.Glu7Val) | gnomAD v4 |
| 11 | g.72225126G>A | CA381755592 | INPPL1 | c.142G>A (p.Asp48Asn) n.58G>A c.21G>A (p.Glu7=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225126G>C | CA381755594 | INPPL1 | c.142G>C (p.Asp48His) n.58G>C c.21G>C (p.Glu7Asp) | gnomAD v4 |
| 11 | g.72225126G= | CA1981895456 | INPPL1 | c.142G= (p.Asp48=) n.58G= c.21G= (p.Glu7=) | |
| 11 | g.72225126G>T | CA381755595 | INPPL1 | c.142G>T (p.Asp48Tyr) n.58G>T c.21G>T (p.Glu7Asp) | gnomAD v4 |
| 11 | g.72225127A>C | CA381755597 | INPPL1 | c.143A>C (p.Asp48Ala) n.59A>C c.22A>C (p.Thr8Pro) | gnomAD v4 |
| 11 | g.72225127A>G | CA381755599 | INPPL1 | c.143A>G (p.Asp48Gly) n.59A>G c.22A>G (p.Thr8Ala) | gnomAD v4 |
| 11 | g.72225127A>T | CA381755601 | INPPL1 | c.143A>T (p.Asp48Val) n.59A>T c.22A>T (p.Thr8Ser) | gnomAD v4 |
| 11 | g.72225128C>A | CA381755606 | INPPL1 | c.144C>A (p.Asp48Glu) n.60C>A c.23C>A (p.Thr8Lys) | gnomAD v4 |
| 11 | g.72225128C>G | CA381755604 | INPPL1 | c.144C>G (p.Asp48Glu) n.60C>G c.23C>G (p.Thr8Arg) | gnomAD v4 |
| 11 | g.72225128C>T | CA475606335 | INPPL1 | c.144C>T (p.Asp48=) n.60C>T c.23C>T (p.Thr8Ile) | gnomAD v4 |
| 11 | g.72225129A>C | CA381755608 | INPPL1 | c.145A>C (p.Ser49Arg) n.61A>C c.24A>C (p.Thr8=) | |
| 11 | g.72225129A>G | CA381755610 | INPPL1 | c.145A>G (p.Ser49Gly) n.61A>G c.24A>G (p.Thr8=) | gnomAD v4 |
| 11 | g.72225129A>T | CA381755611 | INPPL1 | c.145A>T (p.Ser49Cys) n.61A>T c.24A>T (p.Thr8=) | |
| 11 | g.72225130G>A | CA381755614 | INPPL1 | c.146G>A (p.Ser49Asn) n.62G>A c.25G>A (p.Ala9Thr) | gnomAD v4 |
| 11 | g.72225130G>C | CA381755615 | INPPL1 | c.146G>C (p.Ser49Thr) n.62G>C c.25G>C (p.Ala9Pro) | |
| 11 | g.72225130G>T | CA381755617 | INPPL1 | c.146G>T (p.Ser49Ile) n.62G>T c.25G>T (p.Ala9Ser) | gnomAD v4 |
| 11 | g.72225131C>A | CA381755619 | INPPL1 | c.147C>A (p.Ser49Arg) n.63C>A c.26C>A (p.Ala9Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72225131C= | CA1981895457 | INPPL1 | c.147C= (p.Ser49=) n.63C= c.26C= (p.Ala9=) | |
| 11 | g.72225131C>G | CA381755620 | INPPL1 | c.147C>G (p.Ser49Arg) n.63C>G c.26C>G (p.Ala9Gly) | |
| 11 | g.72225131C>T | CA475606336 | INPPL1 | c.147C>T (p.Ser49=) n.63C>T c.26C>T (p.Ala9Val) | gnomAD v4 |
| 11 | g.72225132G>A | CA381755622 | INPPL1 | c.148G>A (p.Glu50Lys) n.64G>A c.27G>A (p.Ala9=) | gnomAD v4 |
| 11 | g.72225132G>C | CA381755624 | INPPL1 | c.148G>C (p.Glu50Gln) n.64G>C c.27G>C (p.Ala9=) | |
| 11 | g.72225132G>T | CA381755626 | INPPL1 | c.148G>T (p.Glu50Ter) n.64G>T c.27G>T (p.Ala9=) | gnomAD v4 |
| 11 | g.72225135_72225136del | CA2614950817 | INPPL1 | c.151_152del (p.Ser51ArgfsTer23) n.67_68del c.30_31del (p.Arg10SerfsTer19) | gnomAD v4 |
| 11 | g.72225133A>C | CA381755630 | INPPL1 | c.149A>C (p.Glu50Ala) n.65A>C c.28A>C (p.Arg10=) | |
| 11 | g.72225133A>G | CA381755633 | INPPL1 | c.149A>G (p.Glu50Gly) n.65A>G c.28A>G (p.Arg10Gly) | gnomAD v4 |
| 11 | g.72225133A>T | CA381755628 | INPPL1 | c.149A>T (p.Glu50Val) n.65A>T c.28A>T (p.Arg10Ter) | |
| 11 | g.72225134G>A | CA475606337 | INPPL1 | c.150G>A (p.Glu50=) n.66G>A c.29G>A (p.Arg10Lys) | gnomAD v4 |
| 11 | g.72225134G>C | CA381755635 | INPPL1 | c.150G>C (p.Glu50Asp) n.66G>C c.29G>C (p.Arg10Thr) | |
| 11 | g.72225134G>T | CA381755639 | INPPL1 | c.150G>T (p.Glu50Asp) n.66G>T c.29G>T (p.Arg10Ile) | gnomAD v4 |
| 11 | g.72225135A>C | CA381755643 | INPPL1 | c.151A>C (p.Ser51Arg) n.67A>C c.30A>C (p.Arg10Ser) | |
| 11 | g.72225135A>G | CA381755646 | INPPL1 | c.151A>G (p.Ser51Gly) n.67A>G c.30A>G (p.Arg10=) | gnomAD v4 |
| 11 | g.72225135A>T | CA381755649 | INPPL1 | c.151A>T (p.Ser51Cys) n.67A>T c.30A>T (p.Arg10Ser) | gnomAD v4 |
| 11 | g.72225136G>A | CA381755654 | INPPL1 | c.152G>A (p.Ser51Asn) n.68G>A c.31G>A (p.Ala11Thr) | gnomAD v4 |
| 11 | g.72225136G>C | CA381755655 | INPPL1 | c.152G>C (p.Ser51Thr) n.68G>C c.31G>C (p.Ala11Pro) | |
| 11 | g.72225136G>T | CA381755657 | INPPL1 | c.152G>T (p.Ser51Ile) n.68G>T c.31G>T (p.Ala11Ser) | gnomAD v4 |
| 11 | g.72225137C>A | CA381755659 | INPPL1 | c.153C>A (p.Ser51Arg) n.69C>A c.32C>A (p.Ala11Glu) | gnomAD v4 |
| 11 | g.72225137C= | CA1981895458 | INPPL1 | c.153C= (p.Ser51=) n.69C= c.32C= (p.Ala11=) | |
| 11 | g.72225137C>G | CA381755662 | INPPL1 | c.153C>G (p.Ser51Arg) n.69C>G c.32C>G (p.Ala11Gly) | gnomAD v4 |
| 11 | g.72225137C>T | CA475606338 | INPPL1 | c.153C>T (p.Ser51=) n.69C>T c.32C>T (p.Ala11Val) | dbSNP gnomAD v4 |
| 11 | g.72225138G>A | CA381755663 | INPPL1 | c.154G>A (p.Val52Met) n.70G>A c.33G>A (p.Ala11=) | dbSNP gnomAD v4 |
| 11 | g.72225138G>C | CA381755665 | INPPL1 | c.154G>C (p.Val52Leu) n.70G>C c.33G>C (p.Ala11=) | gnomAD v4 |
| 11 | g.72225138G= | CA1981895459 | INPPL1 | c.154G= (p.Val52=) n.70G= c.33G= (p.Ala11=) | |
| 11 | g.72225138G>T | CA381755667 | INPPL1 | c.154G>T (p.Val52Leu) n.70G>T c.33G>T (p.Ala11=) | gnomAD v4 |
| 11 | g.72225138_72225151del | CA2614950818 | INPPL1 | c.154_167del (p.Val52ArgfsTer18) n.70_83del c.33_46del (p.Trp12AlafsTer13) | gnomAD v4 |
| 11 | g.72225139T>A | CA381755675 | INPPL1 | c.155T>A (p.Val52Glu) n.71T>A c.34T>A (p.Trp12Arg) | gnomAD v4 |
| 11 | g.72225139T>C | CA381755674 | INPPL1 | c.155T>C (p.Val52Ala) n.71T>C c.34T>C (p.Trp12Arg) | gnomAD v4 |
| 11 | g.72225139T>G | CA381755671 | INPPL1 | c.155T>G (p.Val52Gly) n.71T>G c.34T>G (p.Trp12Gly) | |
| 11 | g.72225140G>A | CA475606339 | INPPL1 | c.156G>A (p.Val52=) n.72G>A c.35G>A (p.Trp12Ter) | gnomAD v4 |
| 11 | g.72225140G>C | CA475606340 | INPPL1 | c.156G>C (p.Val52=) n.72G>C c.35G>C (p.Trp12Ser) | |
| 11 | g.72225140G>T | CA475606341 | INPPL1 | c.156G>T (p.Val52=) n.72G>T c.35G>T (p.Trp12Leu) | gnomAD v4 |
| 11 | g.72225141G>A | CA381755679 | INPPL1 | c.157G>A (p.Ala53Thr) n.73G>A c.36G>A (p.Trp12Ter) | gnomAD v4 |
| 11 | g.72225141G>C | CA381755680 | INPPL1 | c.157G>C (p.Ala53Pro) n.73G>C c.36G>C (p.Trp12Cys) | |
| 11 | g.72225141G= | CA1981895460 | INPPL1 | c.157G= (p.Ala53=) n.73G= c.36G= (p.Trp12=) | |
| 11 | g.72225141G>T | CA381755682 | INPPL1 | c.157G>T (p.Ala53Ser) n.73G>T c.36G>T (p.Trp12Cys) | dbSNP gnomAD v4 |
| 11 | g.72225142C>A | CA381755685 | INPPL1 | c.158C>A (p.Ala53Glu) n.74C>A c.37C>A (p.Arg13=) | gnomAD v4 |
| 11 | g.72225142C= | CA1981895461 | INPPL1 | c.158C= (p.Ala53=) n.74C= c.37C= (p.Arg13=) | |
| 11 | g.72225142C>G | CA381755688 | INPPL1 | c.158C>G (p.Ala53Gly) n.74C>G c.37C>G (p.Arg13Gly) | |
| 11 | g.72225142C>T | CA381755692 | INPPL1 | c.158C>T (p.Ala53Val) n.74C>T c.37C>T (p.Arg13Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225143G>A | CA475606342 | INPPL1 | c.159G>A (p.Ala53=) n.75G>A c.38G>A (p.Arg13Gln) | gnomAD v4 |
| 11 | g.72225143G>C | CA475606344 | INPPL1 | c.159G>C (p.Ala53=) n.75G>C c.38G>C (p.Arg13Pro) | gnomAD v4 |
| 11 | g.72225143G>T | CA475606343 | INPPL1 | c.159G>T (p.Ala53=) n.75G>T c.38G>T (p.Arg13Leu) | gnomAD v4 |
| 11 | g.72225147dup | CA2792650521 | INPPL1 | c.163dup (p.Ala55GlyfsTer20) n.79dup c.42dup (p.Pro15AlafsTer15) | |
| 11 | g.72225147del | CA2574912676 | INPPL1 | c.163del (p.Ala55ProfsTer?) n.79del c.42del (p.Pro15LeufsTer?) | gnomAD v4 |
| 11 | g.72225144G>A | CA381755696 | INPPL1 | c.160G>A (p.Gly54Arg) n.76G>A c.39G>A (p.Arg13=) | gnomAD v4 |
| 11 | g.72225144G>C | CA381755698 | INPPL1 | c.160G>C (p.Gly54Arg) n.76G>C c.39G>C (p.Arg13=) | |
| 11 | g.72225144G>T | CA381755701 | INPPL1 | c.160G>T (p.Gly54Trp) n.76G>T c.39G>T (p.Arg13=) | gnomAD v4 |
| 11 | g.72225145G>A | CA381755705 | INPPL1 | c.161G>A (p.Gly54Glu) n.77G>A c.40G>A (p.Gly14Arg) | gnomAD v4 |
| 11 | g.72225145G>C | CA381755708 | INPPL1 | c.161G>C (p.Gly54Ala) n.77G>C c.40G>C (p.Gly14Arg) | gnomAD v4 |
| 11 | g.72225145G>T | CA381755711 | INPPL1 | c.161G>T (p.Gly54Val) n.77G>T c.40G>T (p.Gly14Trp) | gnomAD v4 |
| 11 | g.72225146G>A | CA475606345 | INPPL1 | c.162G>A (p.Gly54=) n.78G>A c.41G>A (p.Gly14Glu) | dbSNP gnomAD v4 |
| 11 | g.72225146G>C | CA475606346 | INPPL1 | c.162G>C (p.Gly54=) n.78G>C c.41G>C (p.Gly14Ala) | |
| 11 | g.72225146G= | CA1981895462 | INPPL1 | c.162G= (p.Gly54=) n.78G= c.41G= (p.Gly14=) | |
| 11 | g.72225146G>T | CA475606347 | INPPL1 | c.162G>T (p.Gly54=) n.78G>T c.41G>T (p.Gly14Val) | gnomAD v4 |
| 11 | g.72225146_72225183delinsGGCCTTCGCGCTCTGCGTCCTGTGAGTGGGGCGGGGGC | CA1981895463 | INPPL1 | c.162_182+17delinsGGCCTTCGCGCTCTGCGTCCTGTGAGTGGGGCGGGGGC n.78_98+17delinsGGCCTTCGCGCTCTGCGTCCTGTGAGTGGGGCGGGGGC c.41_61+17delinsGGCCTTCGCGCTCTGCGTCCTGTGAGTGGGGCGGGGGC | |
| 11 | g.72225147G>A | CA381755720 | INPPL1 | c.163G>A (p.Ala55Thr) n.79G>A c.42G>A (p.Gly14=) | gnomAD v4 |
| 11 | g.72225147G>C | CA381755717 | INPPL1 | c.163G>C (p.Ala55Pro) n.79G>C c.42G>C (p.Gly14=) | |
| 11 | g.72225147G>T | CA381755723 | INPPL1 | c.163G>T (p.Ala55Ser) n.79G>T c.42G>T (p.Gly14=) | gnomAD v4 |
| 11 | g.72225147_72225183del | CA224429183 | INPPL1 | c.163_182+17del n.79_98+17del c.42_61+17del | dbSNP |
| 11 | g.72225149_72225211del | CA2614950819 | INPPL1 | c.165_182+45del n.81_98+45del c.44_61+45del | gnomAD v4 |
| 11 | g.72225148C>A | CA381755731 | INPPL1 | c.164C>A (p.Ala55Asp) n.80C>A c.43C>A (p.Pro15Thr) | gnomAD v4 |
| 11 | g.72225148C= | CA1981895464 | INPPL1 | c.164C= (p.Ala55=) n.80C= c.43C= (p.Pro15=) | |
| 11 | g.72225148C>G | CA381755728 | INPPL1 | c.164C>G (p.Ala55Gly) n.80C>G c.43C>G (p.Pro15Ala) | dbSNP gnomAD v4 |
| 11 | g.72225148C>T | CA381755733 | INPPL1 | c.164C>T (p.Ala55Val) n.80C>T c.43C>T (p.Pro15Ser) | gnomAD v4 |
| 11 | g.72225149C>A | CA475606348 | INPPL1 | c.165C>A (p.Ala55=) n.81C>A c.44C>A (p.Pro15His) | gnomAD v4 |
| 11 | g.72225149C= | CA1981895465 | INPPL1 | c.165C= (p.Ala55=) n.81C= c.44C= (p.Pro15=) | |
| 11 | g.72225149C>G | CA475606349 | INPPL1 | c.165C>G (p.Ala55=) n.81C>G c.44C>G (p.Pro15Arg) | gnomAD v4 |
| 11 | g.72225149C>T | CA224429189 | INPPL1 | c.165C>T (p.Ala55=) n.81C>T c.44C>T (p.Pro15Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225150T>A | CA381755737 | INPPL1 | c.166T>A (p.Phe56Ile) n.82T>A c.45T>A (p.Pro15=) | gnomAD v4 |
| 11 | g.72225150T>C | CA381755740 | INPPL1 | c.166T>C (p.Phe56Leu) n.82T>C c.45T>C (p.Pro15=) | gnomAD v4 |
| 11 | g.72225150T>G | CA381755742 | INPPL1 | c.166T>G (p.Phe56Val) n.82T>G c.45T>G (p.Pro15=) | gnomAD v4 |
| 11 | g.72225151dup | CA2574912677 | INPPL1 | c.167dup (p.Ala57ArgfsTer18) n.83dup c.46dup (p.Ser16PhefsTer14) | |
| 11 | g.72225151T>A | CA381755745 | INPPL1 | c.167T>A (p.Phe56Tyr) n.83T>A c.46T>A (p.Ser16Thr) | |
| 11 | g.72225151T>C | CA381755746 | INPPL1 | c.167T>C (p.Phe56Ser) n.83T>C c.46T>C (p.Ser16Pro) | dbSNP gnomAD v4 |
| 11 | g.72225151T>G | CA381755747 | INPPL1 | c.167T>G (p.Phe56Cys) n.83T>G c.46T>G (p.Ser16Ala) | |
| 11 | g.72225151T= | CA1981895466 | INPPL1 | c.167T= (p.Phe56=) n.83T= c.46T= (p.Ser16=) | |
| 11 | g.72225152C>A | CA381755749 | INPPL1 | c.168C>A (p.Phe56Leu) n.84C>A c.47C>A (p.Ser16Ter) | gnomAD v4 |
| 11 | g.72225152C= | CA1981895467 | INPPL1 | c.168C= (p.Phe56=) n.84C= c.47C= (p.Ser16=) | |
| 11 | g.72225152C>G | CA381755750 | INPPL1 | c.168C>G (p.Phe56Leu) n.84C>G c.47C>G (p.Ser16Trp) | gnomAD v4 |
| 11 | g.72225152C>T | CA6169559 | INPPL1 | c.168C>T (p.Phe56=) n.84C>T c.47C>T (p.Ser16Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72225152_72225158dup | CA2574912678 | INPPL1 | c.168_174dup (p.Cys59ArgfsTer18) n.84_90dup c.47_53dup (p.Ser20LeufsTer12) | |
| 11 | g.72225153G>A | CA381755752 | INPPL1 | c.169G>A (p.Ala57Thr) n.85G>A c.48G>A (p.Ser16=) | gnomAD v4 |
| 11 | g.72225153G>C | CA381755755 | INPPL1 | c.169G>C (p.Ala57Pro) n.85G>C c.48G>C (p.Ser16=) | gnomAD v4 |
| 11 | g.72225153G>T | CA381755757 | INPPL1 | c.169G>T (p.Ala57Ser) n.85G>T c.48G>T (p.Ser16=) | gnomAD v4 |
| 11 | g.72225154C>A | CA381755767 | INPPL1 | c.170C>A (p.Ala57Glu) n.86C>A c.49C>A (p.Arg17Ser) | gnomAD v4 |
| 11 | g.72225154C>G | CA381755765 | INPPL1 | c.170C>G (p.Ala57Gly) n.86C>G c.49C>G (p.Arg17Gly) | |
| 11 | g.72225154C>T | CA381755763 | INPPL1 | c.170C>T (p.Ala57Val) n.86C>T c.49C>T (p.Arg17Cys) | gnomAD v4 |
| 11 | g.72225155G>A | CA6169560 | INPPL1 | c.171G>A (p.Ala57=) n.87G>A c.50G>A (p.Arg17His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72225155G>C | CA475606350 | INPPL1 | c.171G>C (p.Ala57=) n.87G>C c.50G>C (p.Arg17Pro) | |
| 11 | g.72225155G= | CA1981895468 | INPPL1 | c.171G= (p.Ala57=) n.87G= c.50G= (p.Arg17=) | |
| 11 | g.72225155G>T | CA475606351 | INPPL1 | c.171G>T (p.Ala57=) n.87G>T c.50G>T (p.Arg17Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225156C>A | CA381755773 | INPPL1 | c.172C>A (p.Leu58Ile) n.88C>A c.51C>A (p.Arg17=) | gnomAD v4 |
| 11 | g.72225156C>G | CA381755776 | INPPL1 | c.172C>G (p.Leu58Val) n.88C>G c.51C>G (p.Arg17=) | |
| 11 | g.72225156C>T | CA381755778 | INPPL1 | c.172C>T (p.Leu58Phe) n.88C>T c.51C>T (p.Arg17=) | gnomAD v4 |
| 11 | g.72225157T>A | CA381755783 | INPPL1 | c.173T>A (p.Leu58His) n.89T>A c.52T>A (p.Ser18Thr) | |
| 11 | g.72225157T>C | CA381755785 | INPPL1 | c.173T>C (p.Leu58Pro) n.89T>C c.52T>C (p.Ser18Pro) | gnomAD v4 |
| 11 | g.72225157T>G | CA381755786 | INPPL1 | c.173T>G (p.Leu58Arg) n.89T>G c.52T>G (p.Ser18Ala) | |
| 11 | g.72225158C>A | CA475606353 | INPPL1 | c.174C>A (p.Leu58=) n.90C>A c.53C>A (p.Ser18Tyr) | gnomAD v4 |
| 11 | g.72225158C>G | CA475606354 | INPPL1 | c.174C>G (p.Leu58=) n.90C>G c.53C>G (p.Ser18Cys) | |
| 11 | g.72225158C>T | CA475606355 | INPPL1 | c.174C>T (p.Leu58=) n.90C>T c.53C>T (p.Ser18Phe) | gnomAD v4 |
| 11 | g.72225159T>A | CA381755792 | INPPL1 | c.175T>A (p.Cys59Ser) n.91T>A c.54T>A (p.Ser18=) | gnomAD v4 |
| 11 | g.72225159T>C | CA381755794 | INPPL1 | c.175T>C (p.Cys59Arg) n.91T>C c.54T>C (p.Ser18=) | gnomAD v4 |
| 11 | g.72225159T>G | CA381755795 | INPPL1 | c.175T>G (p.Cys59Gly) n.91T>G c.54T>G (p.Ser18=) | ClinVar |
| 11 | g.72225160G>A | CA381755799 | INPPL1 | c.176G>A (p.Cys59Tyr) n.92G>A c.55G>A (p.Ala19Thr) | gnomAD v4 |
| 11 | g.72225160G>C | CA381755802 | INPPL1 | c.176G>C (p.Cys59Ser) n.92G>C c.55G>C (p.Ala19Pro) | |
| 11 | g.72225160G>T | CA381755804 | INPPL1 | c.176G>T (p.Cys59Phe) n.92G>T c.55G>T (p.Ala19Ser) | gnomAD v4 |
| 11 | g.72225161C>A | CA381755805 | INPPL1 | c.177C>A (p.Cys59Ter) n.93C>A c.56C>A (p.Ala19Glu) | gnomAD v4 |
| 11 | g.72225161C= | CA1981895469 | INPPL1 | c.177C= (p.Cys59=) n.93C= c.56C= (p.Ala19=) | |
| 11 | g.72225161C>G | CA381755806 | INPPL1 | c.177C>G (p.Cys59Trp) n.93C>G c.56C>G (p.Ala19Gly) | |
| 11 | g.72225161C>T | CA475606357 | INPPL1 | c.177C>T (p.Cys59=) n.93C>T c.56C>T (p.Ala19Val) | dbSNP gnomAD v4 |
| 11 | g.72225162G>A | CA381755812 | INPPL1 | c.178G>A (p.Val60Ile) n.94G>A c.57G>A (p.Ala19=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225162G>C | CA224429211 | INPPL1 | c.178G>C (p.Val60Leu) n.94G>C c.57G>C (p.Ala19=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72225162G= | CA1981895470 | INPPL1 | c.178G= (p.Val60=) n.94G= c.57G= (p.Ala19=) | |
| 11 | g.72225162G>T | CA381755818 | INPPL1 | c.178G>T (p.Val60Phe) n.94G>T c.57G>T (p.Ala19=) | gnomAD v4 |
| 11 | g.72225163T>A | CA381755821 | INPPL1 | c.179T>A (p.Val60Asp) n.95T>A c.58T>A (p.Ser20Thr) | |
| 11 | g.72225163T>C | CA381755825 | INPPL1 | c.179T>C (p.Val60Ala) n.95T>C c.58T>C (p.Ser20Pro) | dbSNP gnomAD v4 |
| 11 | g.72225163T>G | CA381755828 | INPPL1 | c.179T>G (p.Val60Gly) n.95T>G c.58T>G (p.Ser20Ala) | |
| 11 | g.72225163T= | CA1981895471 | INPPL1 | c.179T= (p.Val60=) n.95T= c.58T= (p.Ser20=) | |
| 11 | g.72225164C>A | CA475606358 | INPPL1 | c.180C>A (p.Val60=) n.96C>A c.59C>A (p.Ser20Tyr) | gnomAD v4 |
| 11 | g.72225164C= | CA1981895472 | INPPL1 | c.180C= (p.Val60=) n.96C= c.59C= (p.Ser20=) | |
| 11 | g.72225164C>G | CA475606360 | INPPL1 | c.180C>G (p.Val60=) n.96C>G c.59C>G (p.Ser20Cys) | gnomAD v4 |
| 11 | g.72225164C>T | CA475606359 | INPPL1 | c.180C>T (p.Val60=) n.96C>T c.59C>T (p.Ser20Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225165C>A | CA381755835 | INPPL1 | c.181C>A (p.Leu61Met) n.97C>A c.60C>A (p.Ser20=) | gnomAD v4 |
| 11 | g.72225165C= | CA1981895473 | INPPL1 | c.181C= (p.Leu61=) n.97C= c.60C= (p.Ser20=) | |
| 11 | g.72225165C>G | CA381755832 | INPPL1 | c.181C>G (p.Leu61Val) n.97C>G c.60C>G (p.Ser20=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.72225165C>T | CA475606361 | INPPL1 | c.181C>T (p.Leu61=) n.97C>T c.60C>T (p.Ser20=) | gnomAD v4 |
| 11 | g.72225166T>A | CA381755839 | INPPL1 | c.182T>A (p.Leu61Gln) n.98T>A c.61T>A (p.Tyr21Asn) | gnomAD v4 |
| 11 | g.72225166T>C | CA381755842 | INPPL1 | c.182T>C (p.Leu61Pro) n.98T>C c.61T>C (p.Tyr21His) | dbSNP gnomAD v4 |
| 11 | g.72225166T>G | CA381755846 | INPPL1 | c.182T>G (p.Leu61Arg) n.98T>G c.61T>G (p.Tyr21Asp) | gnomAD v4 |
| 11 | g.72225166T= | CA1981895474 | INPPL1 | c.182T= (p.Leu61=) n.98T= c.61T= (p.Tyr21=) | |
| 11 | g.72225168_72225169del | CA2614950820 | INPPL1 | c.182+2_182+3del n.98+2_98+3del c.61+2_61+3del | gnomAD v4 |
| 11 | g.72225167G>A | CA381755851 | INPPL1 | c.182+1G>A (n.182+1G>A) n.98+1G>A c.61+1G>A (n.61+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72225167G>C | CA381755854 | INPPL1 | c.182+1G>C (n.182+1G>C) n.98+1G>C c.61+1G>C (n.61+1G>C) | |
| 11 | g.72225167G= | CA1981895475 | INPPL1 | c.182+1G= (n.182+1G=) n.98+1G= c.61+1G= (n.61+1G=) | |
| 11 | g.72225167G>T | CA381755855 | INPPL1 | c.182+1G>T (n.182+1G>T) n.98+1G>T c.61+1G>T (n.61+1G>T) | gnomAD v4 |
| 11 | g.72225168T>A | CA381755860 | INPPL1 | c.182+2T>A (n.182+2T>A) n.98+2T>A c.61+2T>A (n.61+2T>A) | |
| 11 | g.72225168T>C | CA381755866 | INPPL1 | c.182+2T>C (n.182+2T>C) n.98+2T>C c.61+2T>C (n.61+2T>C) | gnomAD v4 |
| 11 | g.72225168T>G | CA381755863 | INPPL1 | c.182+2T>G (n.182+2T>G) n.98+2T>G c.61+2T>G (n.61+2T>G) | |
| 11 | g.72225169G>A | CA2614950821 | INPPL1 | c.182+3G>A (n.182+3G>A) n.98+3G>A c.61+3G>A (n.61+3G>A) | gnomAD v4 |
| 11 | g.72225169G>T | CA2614950822 | INPPL1 | c.182+3G>T (n.182+3G>T) n.98+3G>T c.61+3G>T (n.61+3G>T) | gnomAD v4 |
| 11 | g.72225170A>C | CA2614950825 | INPPL1 | c.182+4A>C (n.182+4A>C) n.98+4A>C c.61+4A>C (n.61+4A>C) | gnomAD v4 |
| 11 | g.72225170A>G | CA2614950824 | INPPL1 | c.182+4A>G (n.182+4A>G) n.98+4A>G c.61+4A>G (n.61+4A>G) | gnomAD v4 |
| 11 | g.72225170A>T | CA2614950823 | INPPL1 | c.182+4A>T (n.182+4A>T) n.98+4A>T c.61+4A>T (n.61+4A>T) | gnomAD v4 |
| 11 | g.72225170dup | CA2614950826 | INPPL1 | c.182+4dup (n.182+4dup) n.98+4dup c.61+4dup (n.61+4dup) | gnomAD v4 |
| 11 | g.72225171G>A | CA224429216 | INPPL1 | c.182+5G>A (n.182+5G>A) n.98+5G>A c.61+5G>A (n.61+5G>A) | dbSNP gnomAD v4 |
| 11 | g.72225171G= | CA1981895476 | INPPL1 | c.182+5G= (n.182+5G=) n.98+5G= c.61+5G= (n.61+5G=) | |
| 11 | g.72225171G>T | CA2614950827 | INPPL1 | c.182+5G>T (n.182+5G>T) n.98+5G>T c.61+5G>T (n.61+5G>T) | gnomAD v4 |
| 11 | g.72225172T>G | CA939439109 | INPPL1 | c.182+6T>G (n.182+6T>G) n.98+6T>G c.61+6T>G (n.61+6T>G) | gnomAD v3 gnomAD v4 |
| 11 | g.72225173G>A | CA2614950829 | INPPL1 | c.182+7G>A (n.182+7G>A) n.98+7G>A c.61+7G>A (n.61+7G>A) | gnomAD v4 |
| 11 | g.72225173G>C | CA2574912679 | INPPL1 | c.182+7G>C (n.182+7G>C) n.98+7G>C c.61+7G>C (n.61+7G>C) | gnomAD v4 |
| 11 | g.72225173G>T | CA2572616613 | INPPL1 | c.182+7G>T (n.182+7G>T) n.98+7G>T c.61+7G>T (n.61+7G>T) | gnomAD v4 |
| 11 | g.72225176del | CA2614950828 | INPPL1 | c.182+10del (n.182+10del) n.98+10del c.61+10del (n.61+10del) | gnomAD v4 |
| 11 | g.72225174G>A | CA2614950830 | INPPL1 | c.182+8G>A (n.182+8G>A) n.98+8G>A c.61+8G>A (n.61+8G>A) | gnomAD v4 |
| 11 | g.72225174G>T | CA2614950831 | INPPL1 | c.182+8G>T (n.182+8G>T) n.98+8G>T c.61+8G>T (n.61+8G>T) | gnomAD v4 |
| 11 | g.72225175G>A | CA2614950832 | INPPL1 | c.182+9G>A (n.182+9G>A) n.98+9G>A c.61+9G>A (n.61+9G>A) | gnomAD v4 |
| 11 | g.72225175G>T | CA2614950833 | INPPL1 | c.182+9G>T (n.182+9G>T) n.98+9G>T c.61+9G>T (n.61+9G>T) | gnomAD v4 |
| 11 | g.72225176G>A | CA2614950834 | INPPL1 | c.182+10G>A (n.182+10G>A) n.98+10G>A c.61+10G>A (n.61+10G>A) | gnomAD v4 |
| 11 | g.72225176G>T | CA2614950835 | INPPL1 | c.182+10G>T (n.182+10G>T) n.98+10G>T c.61+10G>T (n.61+10G>T) | gnomAD v4 |
| 11 | g.72225177del | CA2614950837 | INPPL1 | c.182+11del (n.182+11del) n.98+11del c.61+11del (n.61+11del) | gnomAD v4 |
| 11 | g.72225177C>A | CA2614950838 | INPPL1 | c.182+11C>A (n.182+11C>A) n.98+11C>A c.61+11C>A (n.61+11C>A) | gnomAD v4 |
| 11 | g.72225177C>T | CA2614950836 | INPPL1 | c.182+11C>T (n.182+11C>T) n.98+11C>T c.61+11C>T (n.61+11C>T) | gnomAD v4 |
| 11 | g.72225181_72225208del | CA2574912680 | INPPL1 | c.182+15_182+42del (n.182+15_182+42del) n.98+15_98+42del c.61+15_61+42del (n.61+15_61+42del) | dbSNP |
| 11 | g.72225178G>A | CA679972907 | INPPL1 | c.182+12G>A (n.182+12G>A) n.98+12G>A c.61+12G>A (n.61+12G>A) | dbSNP gnomAD v4 |
| 11 | g.72225178G>C | CA2566341119 | INPPL1 | c.182+12G>C (n.182+12G>C) n.98+12G>C c.61+12G>C (n.61+12G>C) | gnomAD v4 |
| 11 | g.72225178G= | CA1981895477 | INPPL1 | c.182+12G= (n.182+12G=) n.98+12G= c.61+12G= (n.61+12G=) | |
| 11 | g.72225178G>T | CA2614950842 | INPPL1 | c.182+12G>T (n.182+12G>T) n.98+12G>T c.61+12G>T (n.61+12G>T) | gnomAD v4 |
| 11 | g.72225182dup | CA2614950839 | INPPL1 | c.182+16dup (n.182+16dup) n.98+16dup c.61+16dup (n.61+16dup) | gnomAD v4 |
| 11 | g.72225182del | CA2614950840 | INPPL1 | c.182+16del (n.182+16del) n.98+16del c.61+16del (n.61+16del) | gnomAD v4 |
| 11 | g.72225181_72225182del | CA2614950841 | INPPL1 | c.182+15_182+16del (n.182+15_182+16del) n.98+15_98+16del c.61+15_61+16del (n.61+15_61+16del) | gnomAD v4 |