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 |
|---|---|---|---|---|---|
| 17 | g.31260395_31260396delinsAA | CA2580093079 | NF1 | c.245_246delinsAA (p.Cys82Ter) c.4439_4440delinsAA (p.Cys1480Ter) n.563_564delinsAA c.448_449delinsAA n.1102_1103delinsAA c.4487_4488delinsAA (p.Cys1496Ter) n.1668_1669delinsAA c.4457_4458delinsAA (p.Cys1486Ter) c.4394_4395delinsAA (p.Cys1465Ter) c.3392_3393delinsAA (p.Cys1131Ter) c.973_974delinsAA c.910_911delinsAA n.2930_2931delinsAA c.4496_4497delinsAA (p.Cys1499Ter) c.4448_4449delinsAA (p.Cys1483Ter) c.4424_4425delinsAA (p.Cys1475Ter) c.4484_4485delinsAA (p.Cys1495Ter) | ClinVar |
| 17 | g.31260396T>A | CA398999266 | NF1 | c.246T>A (p.Cys82Ter) c.4440T>A (p.Cys1480Ter) n.564T>A c.449T>A n.1103T>A c.4488T>A (p.Cys1496Ter) n.1669T>A c.4458T>A (p.Cys1486Ter) c.4395T>A (p.Cys1465Ter) c.3393T>A (p.Cys1131Ter) c.974T>A c.911T>A n.2931T>A c.4497T>A (p.Cys1499Ter) c.4449T>A (p.Cys1483Ter) c.4425T>A (p.Cys1475Ter) c.4485T>A (p.Cys1495Ter) | dbSNP |
| 17 | g.31260396T>C | CA499233644 | NF1 | c.246T>C (p.Cys82=) c.4440T>C (p.Cys1480=) n.564T>C c.449T>C n.1103T>C c.4488T>C (p.Cys1496=) n.1669T>C c.4458T>C (p.Cys1486=) c.4395T>C (p.Cys1465=) c.3393T>C (p.Cys1131=) c.974T>C c.911T>C n.2931T>C c.4497T>C (p.Cys1499=) c.4449T>C (p.Cys1483=) c.4425T>C (p.Cys1475=) c.4485T>C (p.Cys1495=) | |
| 17 | g.31260396T>G | CA398999267 | NF1 | c.246T>G (p.Cys82Trp) c.4440T>G (p.Cys1480Trp) n.564T>G c.449T>G n.1103T>G c.4488T>G (p.Cys1496Trp) n.1669T>G c.4458T>G (p.Cys1486Trp) c.4395T>G (p.Cys1465Trp) c.3393T>G (p.Cys1131Trp) c.974T>G c.911T>G n.2931T>G c.4497T>G (p.Cys1499Trp) c.4449T>G (p.Cys1483Trp) c.4425T>G (p.Cys1475Trp) c.4485T>G (p.Cys1495Trp) | dbSNP |
| 17 | g.31260396_31260397delinsTC | CA2255575995 | NF1 | c.246_247delinsTC (p.Cys82=) c.4440_4441delinsTC (p.Cys1480=) n.564_565delinsTC c.449_450delinsTC n.1103_1104delinsTC c.4488_4489delinsTC (p.Cys1496=) n.1669_1670delinsTC c.4458_4459delinsTC (p.Cys1486=) c.4395_4396delinsTC (p.Cys1465=) c.3393_3394delinsTC (p.Cys1131=) c.974_975delinsTC c.911_912delinsTC n.2931_2932delinsTC c.4497_4498delinsTC (p.Cys1499=) c.4449_4450delinsTC (p.Cys1483=) c.4425_4426delinsTC (p.Cys1475=) c.4485_4486delinsTC (p.Cys1495=) | |
| 17 | g.31260397C>A | CA398999269 | NF1 | c.247C>A (p.Pro83Thr) c.4441C>A (p.Pro1481Thr) n.565C>A c.450C>A n.1104C>A c.4489C>A (p.Pro1497Thr) n.1670C>A c.4459C>A (p.Pro1487Thr) c.4396C>A (p.Pro1466Thr) c.3394C>A (p.Pro1132Thr) c.975C>A c.912C>A n.2932C>A c.4498C>A (p.Pro1500Thr) c.4450C>A (p.Pro1484Thr) c.4426C>A (p.Pro1476Thr) c.4486C>A (p.Pro1496Thr) | dbSNP |
| 17 | g.31260397C= | CA2255576002 | NF1 | c.247C= (p.Pro83=) c.4441C= (p.Pro1481=) n.565C= c.450C= n.1104C= c.4489C= (p.Pro1497=) n.1670C= c.4459C= (p.Pro1487=) c.4396C= (p.Pro1466=) c.3394C= (p.Pro1132=) c.975C= c.912C= n.2932C= c.4498C= (p.Pro1500=) c.4450C= (p.Pro1484=) c.4426C= (p.Pro1476=) c.4486C= (p.Pro1496=) | |
| 17 | g.31260397C>G | CA398999270 | NF1 | c.247C>G (p.Pro83Ala) c.4441C>G (p.Pro1481Ala) n.565C>G c.450C>G n.1104C>G c.4489C>G (p.Pro1497Ala) n.1670C>G c.4459C>G (p.Pro1487Ala) c.4396C>G (p.Pro1466Ala) c.3394C>G (p.Pro1132Ala) c.975C>G c.912C>G n.2932C>G c.4498C>G (p.Pro1500Ala) c.4450C>G (p.Pro1484Ala) c.4426C>G (p.Pro1476Ala) c.4486C>G (p.Pro1496Ala) | dbSNP |
| 17 | g.31260397C>T | CA398999271 | NF1 | c.247C>T (p.Pro83Ser) c.4441C>T (p.Pro1481Ser) n.565C>T c.450C>T n.1104C>T c.4489C>T (p.Pro1497Ser) n.1670C>T c.4459C>T (p.Pro1487Ser) c.4396C>T (p.Pro1466Ser) c.3394C>T (p.Pro1132Ser) c.975C>T c.912C>T n.2932C>T c.4498C>T (p.Pro1500Ser) c.4450C>T (p.Pro1484Ser) c.4426C>T (p.Pro1476Ser) c.4486C>T (p.Pro1496Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.31260398del | CA645373128 | NF1 | c.248del (p.Pro83LeufsTer6) c.4442del (p.Pro1481LeufsTer6) n.566del c.451del n.1105del c.4490del (p.Pro1497LeufsTer6) n.1671del c.4460del (p.Pro1487LeufsTer6) c.4397del (p.Pro1466LeufsTer6) c.3395del (p.Pro1132LeufsTer6) c.976del c.913del n.2933del c.4499del (p.Pro1500LeufsTer6) c.4451del (p.Pro1484LeufsTer6) c.4427del (p.Pro1476LeufsTer6) c.4487del (p.Pro1496LeufsTer6) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.31260398C>A | CA398999274 | NF1 | c.248C>A (p.Pro83His) c.4442C>A (p.Pro1481His) n.566C>A c.451C>A n.1105C>A c.4490C>A (p.Pro1497His) n.1671C>A c.4460C>A (p.Pro1487His) c.4397C>A (p.Pro1466His) c.3395C>A (p.Pro1132His) c.976C>A c.913C>A n.2933C>A c.4499C>A (p.Pro1500His) c.4451C>A (p.Pro1484His) c.4427C>A (p.Pro1476His) c.4487C>A (p.Pro1496His) | dbSNP |
| 17 | g.31260398C= | CA2255576014 | NF1 | c.248C= (p.Pro83=) c.4442C= (p.Pro1481=) n.566C= c.451C= n.1105C= c.4490C= (p.Pro1497=) n.1671C= c.4460C= (p.Pro1487=) c.4397C= (p.Pro1466=) c.3395C= (p.Pro1132=) c.976C= c.913C= n.2933C= c.4499C= (p.Pro1500=) c.4451C= (p.Pro1484=) c.4427C= (p.Pro1476=) c.4487C= (p.Pro1496=) | |
| 17 | g.31260398C>G | CA398999276 | NF1 | c.248C>G (p.Pro83Arg) c.4442C>G (p.Pro1481Arg) n.566C>G c.451C>G n.1105C>G c.4490C>G (p.Pro1497Arg) n.1671C>G c.4460C>G (p.Pro1487Arg) c.4397C>G (p.Pro1466Arg) c.3395C>G (p.Pro1132Arg) c.976C>G c.913C>G n.2933C>G c.4499C>G (p.Pro1500Arg) c.4451C>G (p.Pro1484Arg) c.4427C>G (p.Pro1476Arg) c.4487C>G (p.Pro1496Arg) | dbSNP |
| 17 | g.31260398C>T | CA398999278 | NF1 | c.248C>T (p.Pro83Leu) c.4442C>T (p.Pro1481Leu) n.566C>T c.451C>T n.1105C>T c.4490C>T (p.Pro1497Leu) n.1671C>T c.4460C>T (p.Pro1487Leu) c.4397C>T (p.Pro1466Leu) c.3395C>T (p.Pro1132Leu) c.976C>T c.913C>T n.2933C>T c.4499C>T (p.Pro1500Leu) c.4451C>T (p.Pro1484Leu) c.4427C>T (p.Pro1476Leu) c.4487C>T (p.Pro1496Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.31260399T>A | CA499233647 | NF1 | c.249T>A (p.Pro83=) c.4443T>A (p.Pro1481=) n.567T>A c.452T>A n.1106T>A c.4491T>A (p.Pro1497=) n.1672T>A c.4461T>A (p.Pro1487=) c.4398T>A (p.Pro1466=) c.3396T>A (p.Pro1132=) c.977T>A c.914T>A n.2934T>A c.4500T>A (p.Pro1500=) c.4452T>A (p.Pro1484=) c.4428T>A (p.Pro1476=) c.4488T>A (p.Pro1496=) | dbSNP |
| 17 | g.31260399T>C | CA499233646 | NF1 | c.249T>C (p.Pro83=) c.4443T>C (p.Pro1481=) n.567T>C c.452T>C n.1106T>C c.4491T>C (p.Pro1497=) n.1672T>C c.4461T>C (p.Pro1487=) c.4398T>C (p.Pro1466=) c.3396T>C (p.Pro1132=) c.977T>C c.914T>C n.2934T>C c.4500T>C (p.Pro1500=) c.4452T>C (p.Pro1484=) c.4428T>C (p.Pro1476=) c.4488T>C (p.Pro1496=) | dbSNP |
| 17 | g.31260399T>G | CA499233645 | NF1 | c.249T>G (p.Pro83=) c.4443T>G (p.Pro1481=) n.567T>G c.452T>G n.1106T>G c.4491T>G (p.Pro1497=) n.1672T>G c.4461T>G (p.Pro1487=) c.4398T>G (p.Pro1466=) c.3396T>G (p.Pro1132=) c.977T>G c.914T>G n.2934T>G c.4500T>G (p.Pro1500=) c.4452T>G (p.Pro1484=) c.4428T>G (p.Pro1476=) c.4488T>G (p.Pro1496=) | |
| 17 | g.31260400A= | CA2255576019 | NF1 | c.250A= (p.Thr84=) c.4444A= (p.Thr1482=) n.568A= c.453A= n.1107A= c.4492A= (p.Thr1498=) n.1673A= c.4462A= (p.Thr1488=) c.4399A= (p.Thr1467=) c.3397A= (p.Thr1133=) c.978A= c.915A= n.2935A= c.4501A= (p.Thr1501=) c.4453A= (p.Thr1485=) c.4429A= (p.Thr1477=) c.4489A= (p.Thr1497=) | |
| 17 | g.31260400A>C | CA398999280 | NF1 | c.250A>C (p.Thr84Pro) c.4444A>C (p.Thr1482Pro) n.568A>C c.453A>C n.1107A>C c.4492A>C (p.Thr1498Pro) n.1673A>C c.4462A>C (p.Thr1488Pro) c.4399A>C (p.Thr1467Pro) c.3397A>C (p.Thr1133Pro) c.978A>C c.915A>C n.2935A>C c.4501A>C (p.Thr1501Pro) c.4453A>C (p.Thr1485Pro) c.4429A>C (p.Thr1477Pro) c.4489A>C (p.Thr1497Pro) | ClinVar dbSNP |
| 17 | g.31260400A>G | CA10580318 | NF1 | c.250A>G (p.Thr84Ala) c.4444A>G (p.Thr1482Ala) n.568A>G c.453A>G n.1107A>G c.4492A>G (p.Thr1498Ala) n.1673A>G c.4462A>G (p.Thr1488Ala) c.4399A>G (p.Thr1467Ala) c.3397A>G (p.Thr1133Ala) c.978A>G c.915A>G n.2935A>G c.4501A>G (p.Thr1501Ala) c.4453A>G (p.Thr1485Ala) c.4429A>G (p.Thr1477Ala) c.4489A>G (p.Thr1497Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31260400A>T | CA398999284 | NF1 | c.250A>T (p.Thr84Ser) c.4444A>T (p.Thr1482Ser) n.568A>T c.453A>T n.1107A>T c.4492A>T (p.Thr1498Ser) n.1673A>T c.4462A>T (p.Thr1488Ser) c.4399A>T (p.Thr1467Ser) c.3397A>T (p.Thr1133Ser) c.978A>T c.915A>T n.2935A>T c.4501A>T (p.Thr1501Ser) c.4453A>T (p.Thr1485Ser) c.4429A>T (p.Thr1477Ser) c.4489A>T (p.Thr1497Ser) | dbSNP |
| 17 | g.31260400_31260401delinsAC | CA2255576022 | NF1 | c.250_251delinsAC (p.Thr84=) c.4444_4445delinsAC (p.Thr1482=) n.568_569delinsAC c.453_454delinsAC n.1107_1108delinsAC c.4492_4493delinsAC (p.Thr1498=) n.1673_1674delinsAC c.4462_4463delinsAC (p.Thr1488=) c.4399_4400delinsAC (p.Thr1467=) c.3397_3398delinsAC (p.Thr1133=) c.978_979delinsAC c.915_916delinsAC n.2935_2936delinsAC c.4501_4502delinsAC (p.Thr1501=) c.4453_4454delinsAC (p.Thr1485=) c.4429_4430delinsAC (p.Thr1477=) c.4489_4490delinsAC (p.Thr1497=) | |
| 17 | g.31260401del | CA915949652 | NF1 | c.251del (p.Thr84LysfsTer5) c.4445del (p.Thr1482LysfsTer5) n.569del c.454del n.1108del c.4493del (p.Thr1498LysfsTer5) n.1674del c.4463del (p.Thr1488LysfsTer5) c.4400del (p.Thr1467LysfsTer5) c.3398del (p.Thr1133LysfsTer5) c.979del c.916del n.2936del c.4502del (p.Thr1501LysfsTer5) c.4454del (p.Thr1485LysfsTer5) c.4430del (p.Thr1477LysfsTer5) c.4490del (p.Thr1497LysfsTer5) | ClinVar dbSNP |
| 17 | g.31260401C>A | CA398999291 | NF1 | c.251C>A (p.Thr84Lys) c.4445C>A (p.Thr1482Lys) n.569C>A c.454C>A n.1108C>A c.4493C>A (p.Thr1498Lys) n.1674C>A c.4463C>A (p.Thr1488Lys) c.4400C>A (p.Thr1467Lys) c.3398C>A (p.Thr1133Lys) c.979C>A c.916C>A n.2936C>A c.4502C>A (p.Thr1501Lys) c.4454C>A (p.Thr1485Lys) c.4430C>A (p.Thr1477Lys) c.4490C>A (p.Thr1497Lys) | dbSNP |
| 17 | g.31260401C= | CA2255576030 | NF1 | c.251C= (p.Thr84=) c.4445C= (p.Thr1482=) n.569C= c.454C= n.1108C= c.4493C= (p.Thr1498=) n.1674C= c.4463C= (p.Thr1488=) c.4400C= (p.Thr1467=) c.3398C= (p.Thr1133=) c.979C= c.916C= n.2936C= c.4502C= (p.Thr1501=) c.4454C= (p.Thr1485=) c.4430C= (p.Thr1477=) c.4490C= (p.Thr1497=) | |
| 17 | g.31260401C>G | CA398999287 | NF1 | c.251C>G (p.Thr84Arg) c.4445C>G (p.Thr1482Arg) n.569C>G c.454C>G n.1108C>G c.4493C>G (p.Thr1498Arg) n.1674C>G c.4463C>G (p.Thr1488Arg) c.4400C>G (p.Thr1467Arg) c.3398C>G (p.Thr1133Arg) c.979C>G c.916C>G n.2936C>G c.4502C>G (p.Thr1501Arg) c.4454C>G (p.Thr1485Arg) c.4430C>G (p.Thr1477Arg) c.4490C>G (p.Thr1497Arg) | dbSNP |
| 17 | g.31260401C>T | CA398999290 | NF1 | c.251C>T (p.Thr84Ile) c.4445C>T (p.Thr1482Ile) n.569C>T c.454C>T n.1108C>T c.4493C>T (p.Thr1498Ile) n.1674C>T c.4463C>T (p.Thr1488Ile) c.4400C>T (p.Thr1467Ile) c.3398C>T (p.Thr1133Ile) c.979C>T c.916C>T n.2936C>T c.4502C>T (p.Thr1501Ile) c.4454C>T (p.Thr1485Ile) c.4430C>T (p.Thr1477Ile) c.4490C>T (p.Thr1497Ile) | ClinVar dbSNP |
| 17 | g.31260402A>C | CA499233648 | NF1 | c.252A>C (p.Thr84=) c.4446A>C (p.Thr1482=) n.570A>C c.455A>C n.1109A>C c.4494A>C (p.Thr1498=) n.1675A>C c.4464A>C (p.Thr1488=) c.4401A>C (p.Thr1467=) c.3399A>C (p.Thr1133=) c.980A>C c.917A>C n.2937A>C c.4503A>C (p.Thr1501=) c.4455A>C (p.Thr1485=) c.4431A>C (p.Thr1477=) c.4491A>C (p.Thr1497=) | |
| 17 | g.31260402A>G | CA499233650 | NF1 | c.252A>G (p.Thr84=) c.4446A>G (p.Thr1482=) n.570A>G c.455A>G n.1109A>G c.4494A>G (p.Thr1498=) n.1675A>G c.4464A>G (p.Thr1488=) c.4401A>G (p.Thr1467=) c.3399A>G (p.Thr1133=) c.980A>G c.917A>G n.2937A>G c.4503A>G (p.Thr1501=) c.4455A>G (p.Thr1485=) c.4431A>G (p.Thr1477=) c.4491A>G (p.Thr1497=) | |
| 17 | g.31260402A>T | CA499233649 | NF1 | c.252A>T (p.Thr84=) c.4446A>T (p.Thr1482=) n.570A>T c.455A>T n.1109A>T c.4494A>T (p.Thr1498=) n.1675A>T c.4464A>T (p.Thr1488=) c.4401A>T (p.Thr1467=) c.3399A>T (p.Thr1133=) c.980A>T c.917A>T n.2937A>T c.4503A>T (p.Thr1501=) c.4455A>T (p.Thr1485=) c.4431A>T (p.Thr1477=) c.4491A>T (p.Thr1497=) | |
| 17 | g.31260403_31260407del | CA2695225689 | NF1 | c.253_257del (p.Ser85CysfsTer5) c.4447_4451del (p.Ser1483CysfsTer5) n.571_575del c.456_460del n.1110_1114del c.4495_4499del (p.Ser1499CysfsTer5) n.1676_1680del c.4465_4469del (p.Ser1489CysfsTer5) c.4402_4406del (p.Ser1468CysfsTer5) c.3400_3404del (p.Ser1134CysfsTer5) c.981_985del c.918_922del n.2938_2942del c.4504_4508del (p.Ser1502CysfsTer5) c.4456_4460del (p.Ser1486CysfsTer5) c.4432_4436del (p.Ser1478CysfsTer5) c.4492_4496del (p.Ser1498CysfsTer5) | |
| 17 | g.31260403A= | CA2255576038 | NF1 | c.253A= (p.Ser85=) c.4447A= (p.Ser1483=) n.571A= c.456A= n.1110A= c.4495A= (p.Ser1499=) n.1676A= c.4465A= (p.Ser1489=) c.4402A= (p.Ser1468=) c.3400A= (p.Ser1134=) c.981A= c.918A= n.2938A= c.4504A= (p.Ser1502=) c.4456A= (p.Ser1486=) c.4432A= (p.Ser1478=) c.4492A= (p.Ser1498=) | |
| 17 | g.31260403A>C | CA398999294 | NF1 | c.253A>C (p.Ser85Arg) c.4447A>C (p.Ser1483Arg) n.571A>C c.456A>C n.1110A>C c.4495A>C (p.Ser1499Arg) n.1676A>C c.4465A>C (p.Ser1489Arg) c.4402A>C (p.Ser1468Arg) c.3400A>C (p.Ser1134Arg) c.981A>C c.918A>C n.2938A>C c.4504A>C (p.Ser1502Arg) c.4456A>C (p.Ser1486Arg) c.4432A>C (p.Ser1478Arg) c.4492A>C (p.Ser1498Arg) | |
| 17 | g.31260403A>G | CA219587 | NF1 | c.253A>G (p.Ser85Gly) c.4447A>G (p.Ser1483Gly) n.571A>G c.456A>G n.1110A>G c.4495A>G (p.Ser1499Gly) n.1676A>G c.4465A>G (p.Ser1489Gly) c.4402A>G (p.Ser1468Gly) c.3400A>G (p.Ser1134Gly) c.981A>G c.918A>G n.2938A>G c.4504A>G (p.Ser1502Gly) c.4456A>G (p.Ser1486Gly) c.4432A>G (p.Ser1478Gly) c.4492A>G (p.Ser1498Gly) | ClinVar dbSNP |
| 17 | g.31260403A>T | CA398999298 | NF1 | c.253A>T (p.Ser85Cys) c.4447A>T (p.Ser1483Cys) n.571A>T c.456A>T n.1110A>T c.4495A>T (p.Ser1499Cys) n.1676A>T c.4465A>T (p.Ser1489Cys) c.4402A>T (p.Ser1468Cys) c.3400A>T (p.Ser1134Cys) c.981A>T c.918A>T n.2938A>T c.4504A>T (p.Ser1502Cys) c.4456A>T (p.Ser1486Cys) c.4432A>T (p.Ser1478Cys) c.4492A>T (p.Ser1498Cys) | dbSNP |
| 17 | g.31260406_31260413dup | CA2536980134 | NF1 | c.256_263dup (p.Asn89MetfsTer3) c.4450_4457dup (p.Asn1487MetfsTer3) n.574_581dup c.459_466dup n.1113_1120dup c.4498_4505dup (p.Asn1503MetfsTer3) n.1679_1686dup c.4468_4475dup (p.Asn1493MetfsTer3) c.4405_4412dup (p.Asn1472MetfsTer3) c.3403_3410dup (p.Asn1138MetfsTer3) c.984_991dup c.921_928dup n.2941_2948dup c.4507_4514dup (p.Asn1506MetfsTer3) c.4459_4466dup (p.Asn1490MetfsTer3) c.4435_4442dup (p.Asn1482MetfsTer3) c.4495_4502dup (p.Asn1502MetfsTer3) | |
| 17 | g.31260404G>A | CA398999304 | NF1 | c.254G>A (p.Ser85Asn) c.4448G>A (p.Ser1483Asn) n.572G>A c.457G>A n.1111G>A c.4496G>A (p.Ser1499Asn) n.1677G>A c.4466G>A (p.Ser1489Asn) c.4403G>A (p.Ser1468Asn) c.3401G>A (p.Ser1134Asn) c.982G>A c.919G>A n.2939G>A c.4505G>A (p.Ser1502Asn) c.4457G>A (p.Ser1486Asn) c.4433G>A (p.Ser1478Asn) c.4493G>A (p.Ser1498Asn) | ClinVar dbSNP |
| 17 | g.31260404G>C | CA398999305 | NF1 | c.254G>C (p.Ser85Thr) c.4448G>C (p.Ser1483Thr) n.572G>C c.457G>C n.1111G>C c.4496G>C (p.Ser1499Thr) n.1677G>C c.4466G>C (p.Ser1489Thr) c.4403G>C (p.Ser1468Thr) c.3401G>C (p.Ser1134Thr) c.982G>C c.919G>C n.2939G>C c.4505G>C (p.Ser1502Thr) c.4457G>C (p.Ser1486Thr) c.4433G>C (p.Ser1478Thr) c.4493G>C (p.Ser1498Thr) | dbSNP |
| 17 | g.31260404G= | CA2255576045 | NF1 | c.254G= (p.Ser85=) c.4448G= (p.Ser1483=) n.572G= c.457G= n.1111G= c.4496G= (p.Ser1499=) n.1677G= c.4466G= (p.Ser1489=) c.4403G= (p.Ser1468=) c.3401G= (p.Ser1134=) c.982G= c.919G= n.2939G= c.4505G= (p.Ser1502=) c.4457G= (p.Ser1486=) c.4433G= (p.Ser1478=) c.4493G= (p.Ser1498=) | |
| 17 | g.31260404G>T | CA398999310 | NF1 | c.254G>T (p.Ser85Ile) c.4448G>T (p.Ser1483Ile) n.572G>T c.457G>T n.1111G>T c.4496G>T (p.Ser1499Ile) n.1677G>T c.4466G>T (p.Ser1489Ile) c.4403G>T (p.Ser1468Ile) c.3401G>T (p.Ser1134Ile) c.982G>T c.919G>T n.2939G>T c.4505G>T (p.Ser1502Ile) c.4457G>T (p.Ser1486Ile) c.4433G>T (p.Ser1478Ile) c.4493G>T (p.Ser1498Ile) | |
| 17 | g.31260405T>A | CA398999314 | NF1 | c.255T>A (p.Ser85Arg) c.4449T>A (p.Ser1483Arg) n.573T>A c.458T>A n.1112T>A c.4497T>A (p.Ser1499Arg) n.1678T>A c.4467T>A (p.Ser1489Arg) c.4404T>A (p.Ser1468Arg) c.3402T>A (p.Ser1134Arg) c.983T>A c.920T>A n.2940T>A c.4506T>A (p.Ser1502Arg) c.4458T>A (p.Ser1486Arg) c.4434T>A (p.Ser1478Arg) c.4494T>A (p.Ser1498Arg) | dbSNP |
| 17 | g.31260405T>C | CA499233651 | NF1 | c.255T>C (p.Ser85=) c.4449T>C (p.Ser1483=) n.573T>C c.458T>C n.1112T>C c.4497T>C (p.Ser1499=) n.1678T>C c.4467T>C (p.Ser1489=) c.4404T>C (p.Ser1468=) c.3402T>C (p.Ser1134=) c.983T>C c.920T>C n.2940T>C c.4506T>C (p.Ser1502=) c.4458T>C (p.Ser1486=) c.4434T>C (p.Ser1478=) c.4494T>C (p.Ser1498=) | ClinVar dbSNP |
| 17 | g.31260405T>G | CA398999319 | NF1 | c.255T>G (p.Ser85Arg) c.4449T>G (p.Ser1483Arg) n.573T>G c.458T>G n.1112T>G c.4497T>G (p.Ser1499Arg) n.1678T>G c.4467T>G (p.Ser1489Arg) c.4404T>G (p.Ser1468Arg) c.3402T>G (p.Ser1134Arg) c.983T>G c.920T>G n.2940T>G c.4506T>G (p.Ser1502Arg) c.4458T>G (p.Ser1486Arg) c.4434T>G (p.Ser1478Arg) c.4494T>G (p.Ser1498Arg) | dbSNP |
| 17 | g.31260406G>A | CA398999321 | NF1 | c.256G>A (p.Asp86Asn) c.4450G>A (p.Asp1484Asn) n.574G>A c.459G>A n.1113G>A c.4498G>A (p.Asp1500Asn) n.1679G>A c.4468G>A (p.Asp1490Asn) c.4405G>A (p.Asp1469Asn) c.3403G>A (p.Asp1135Asn) c.984G>A c.921G>A n.2941G>A c.4507G>A (p.Asp1503Asn) c.4459G>A (p.Asp1487Asn) c.4435G>A (p.Asp1479Asn) c.4495G>A (p.Asp1499Asn) | dbSNP gnomAD v4 |
| 17 | g.31260406G>C | CA398999325 | NF1 | c.256G>C (p.Asp86His) c.4450G>C (p.Asp1484His) n.574G>C c.459G>C n.1113G>C c.4498G>C (p.Asp1500His) n.1679G>C c.4468G>C (p.Asp1490His) c.4405G>C (p.Asp1469His) c.3403G>C (p.Asp1135His) c.984G>C c.921G>C n.2941G>C c.4507G>C (p.Asp1503His) c.4459G>C (p.Asp1487His) c.4435G>C (p.Asp1479His) c.4495G>C (p.Asp1499His) | dbSNP |
| 17 | g.31260406G>T | CA398999323 | NF1 | c.256G>T (p.Asp86Tyr) c.4450G>T (p.Asp1484Tyr) n.574G>T c.459G>T n.1113G>T c.4498G>T (p.Asp1500Tyr) n.1679G>T c.4468G>T (p.Asp1490Tyr) c.4405G>T (p.Asp1469Tyr) c.3403G>T (p.Asp1135Tyr) c.984G>T c.921G>T n.2941G>T c.4507G>T (p.Asp1503Tyr) c.4459G>T (p.Asp1487Tyr) c.4435G>T (p.Asp1479Tyr) c.4495G>T (p.Asp1499Tyr) | dbSNP |
| 17 | g.31260407A= | CA2255576047 | NF1 | c.257A= (p.Asp86=) c.4451A= (p.Asp1484=) n.575A= c.460A= n.1114A= c.4499A= (p.Asp1500=) n.1680A= c.4469A= (p.Asp1490=) c.4406A= (p.Asp1469=) c.3404A= (p.Asp1135=) c.985A= c.922A= n.2942A= c.4508A= (p.Asp1503=) c.4460A= (p.Asp1487=) c.4436A= (p.Asp1479=) c.4496A= (p.Asp1499=) | |
| 17 | g.31260407A>C | CA398999327 | NF1 | c.257A>C (p.Asp86Ala) c.4451A>C (p.Asp1484Ala) n.575A>C c.460A>C n.1114A>C c.4499A>C (p.Asp1500Ala) n.1680A>C c.4469A>C (p.Asp1490Ala) c.4406A>C (p.Asp1469Ala) c.3404A>C (p.Asp1135Ala) c.985A>C c.922A>C n.2942A>C c.4508A>C (p.Asp1503Ala) c.4460A>C (p.Asp1487Ala) c.4436A>C (p.Asp1479Ala) c.4496A>C (p.Asp1499Ala) | |
| 17 | g.31260407A>G | CA398999329 | NF1 | c.257A>G (p.Asp86Gly) c.4451A>G (p.Asp1484Gly) n.575A>G c.460A>G n.1114A>G c.4499A>G (p.Asp1500Gly) n.1680A>G c.4469A>G (p.Asp1490Gly) c.4406A>G (p.Asp1469Gly) c.3404A>G (p.Asp1135Gly) c.985A>G c.922A>G n.2942A>G c.4508A>G (p.Asp1503Gly) c.4460A>G (p.Asp1487Gly) c.4436A>G (p.Asp1479Gly) c.4496A>G (p.Asp1499Gly) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31260407A>T | CA398999330 | NF1 | c.257A>T (p.Asp86Val) c.4451A>T (p.Asp1484Val) n.575A>T c.460A>T n.1114A>T c.4499A>T (p.Asp1500Val) n.1680A>T c.4469A>T (p.Asp1490Val) c.4406A>T (p.Asp1469Val) c.3404A>T (p.Asp1135Val) c.985A>T c.922A>T n.2942A>T c.4508A>T (p.Asp1503Val) c.4460A>T (p.Asp1487Val) c.4436A>T (p.Asp1479Val) c.4496A>T (p.Asp1499Val) | dbSNP gnomAD v4 |