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 |
|---|---|---|---|---|---|
| 16 | g.1510905del | CA2631006454 | IFT140 | c.*40del (n.*40del) c.*2867del (n.*2867del) n.4253del | gnomAD v4 |
| 16 | g.1510907T>C | CA2631006457 | IFT140 | c.*37A>G (n.*37A>G) c.*2864A>G (n.*2864A>G) n.4250A>G | gnomAD v4 |
| 16 | g.1510908T>A | CA620700840 | IFT140 | c.*36A>T (n.*36A>T) c.*2863A>T (n.*2863A>T) n.4249A>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510908T>C | CA2631006459 | IFT140 | c.*36A>G (n.*36A>G) c.*2863A>G (n.*2863A>G) n.4249A>G | gnomAD v4 |
| 16 | g.1510908T= | CA2201718303 | IFT140 | c.*36A= (n.*36A=) c.*2863A= (n.*2863A=) n.4249A= | |
| 16 | g.1510909C>G | CA2575869120 | IFT140 | c.*35G>C (n.*35G>C) c.*2862G>C (n.*2862G>C) n.4248G>C | |
| 16 | g.1510909C>T | CA2575869121 | IFT140 | c.*35G>A (n.*35G>A) c.*2862G>A (n.*2862G>A) n.4248G>A | gnomAD v4 |
| 16 | g.1510910T>A | CA2631006460 | IFT140 | c.*34A>T (n.*34A>T) c.*2861A>T (n.*2861A>T) n.4247A>T | gnomAD v4 |
| 16 | g.1510910T>C | CA2631006461 | IFT140 | c.*34A>G (n.*34A>G) c.*2861A>G (n.*2861A>G) n.4247A>G | gnomAD v4 |
| 16 | g.1510911G>A | CA620700841 | IFT140 | c.*33C>T (n.*33C>T) c.*2860C>T (n.*2860C>T) n.4246C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510911G= | CA2201718304 | IFT140 | c.*33C= (n.*33C=) c.*2860C= (n.*2860C=) n.4246C= | |
| 16 | g.1510911G>T | CA2631006463 | IFT140 | c.*33C>A (n.*33C>A) c.*2860C>A (n.*2860C>A) n.4246C>A | gnomAD v4 |
| 16 | g.1510917_1510919del | CA2631006462 | IFT140 | c.*31_*33del (n.*31_*33del) c.*2858_*2860del (n.*2858_*2860del) n.4244_4246del | gnomAD v4 |
| 16 | g.1510912C>A | CA620700842 | IFT140 | c.*32G>T (n.*32G>T) c.*2859G>T (n.*2859G>T) n.4245G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510912C= | CA2201718306 | IFT140 | c.*32G= (n.*32G=) c.*2859G= (n.*2859G=) n.4245G= | |
| 16 | g.1510912C>T | CA2201718305 | IFT140 | c.*32G>A (n.*32G>A) c.*2859G>A (n.*2859G>A) n.4245G>A | dbSNP gnomAD v4 |
| 16 | g.1510912_1510913insT | CA2805557677 | IFT140 | c.*31_*32insA (n.*31_*32insA) c.*2858_*2859insA (n.*2858_*2859insA) n.4244_4245insA | |
| 16 | g.1510913A= | CA2201718307 | IFT140 | c.*31T= (n.*31T=) c.*2858T= (n.*2858T=) n.4244T= | |
| 16 | g.1510913A>G | CA620700843 | IFT140 | c.*31T>C (n.*31T>C) c.*2858T>C (n.*2858T>C) n.4244T>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510914G>A | CA620700844 | IFT140 | c.*30C>T (n.*30C>T) c.*2857C>T (n.*2857C>T) n.4243C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510914G= | CA2201718308 | IFT140 | c.*30C= (n.*30C=) c.*2857C= (n.*2857C=) n.4243C= | |
| 16 | g.1510914G>T | CA2631006465 | IFT140 | c.*30C>A (n.*30C>A) c.*2857C>A (n.*2857C>A) n.4243C>A | gnomAD v4 |
| 16 | g.1510915C>A | CA2631006466 | IFT140 | c.*29G>T (n.*29G>T) c.*2856G>T (n.*2856G>T) n.4242G>T | gnomAD v4 |
| 16 | g.1510915C= | CA2201718309 | IFT140 | c.*29G= (n.*29G=) c.*2856G= (n.*2856G=) n.4242G= | |
| 16 | g.1510915C>T | CA620700845 | IFT140 | c.*29G>A (n.*29G>A) c.*2856G>A (n.*2856G>A) n.4242G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510916A= | CA2201718310 | IFT140 | c.*28T= (n.*28T=) c.*2855T= (n.*2855T=) n.4241T= | |
| 16 | g.1510916A>G | CA7812747 | IFT140 | c.*28T>C (n.*28T>C) c.*2855T>C (n.*2855T>C) n.4241T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1510917G>A | CA2631006467 | IFT140 | c.*27C>T (n.*27C>T) c.*2854C>T (n.*2854C>T) n.4240C>T | gnomAD v4 |
| 16 | g.1510917G>T | CA2631006468 | IFT140 | c.*27C>A (n.*27C>A) c.*2854C>A (n.*2854C>A) n.4240C>A | gnomAD v4 |
| 16 | g.1510918C>A | CA2631006469 | IFT140 | c.*26G>T (n.*26G>T) c.*2853G>T (n.*2853G>T) n.4239G>T | gnomAD v4 |
| 16 | g.1510918C>T | CA2631006470 | IFT140 | c.*26G>A (n.*26G>A) c.*2853G>A (n.*2853G>A) n.4239G>A | gnomAD v4 |
| 16 | g.1510919A>C | CA656608313 | IFT140 | c.*25T>G (n.*25T>G) c.*2852T>G (n.*2852T>G) n.4238T>G | gnomAD v4 COSMIC |
| 16 | g.1510920C>A | CA7812749 | IFT140 | c.*24G>T (n.*24G>T) c.*2851G>T (n.*2851G>T) n.4237G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1510920C= | CA2201718311 | IFT140 | c.*24G= (n.*24G=) c.*2851G= (n.*2851G=) n.4237G= | |
| 16 | g.1510920C>T | CA7812748 | IFT140 | c.*24G>A (n.*24G>A) c.*2851G>A (n.*2851G>A) n.4237G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510921G>A | CA7812750 | IFT140 | c.*23C>T (n.*23C>T) c.*2850C>T (n.*2850C>T) n.4236C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510921G>C | CA973715031 | IFT140 | c.*23C>G (n.*23C>G) c.*2850C>G (n.*2850C>G) n.4236C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1510921G= | CA2201718312 | IFT140 | c.*23C= (n.*23C=) c.*2850C= (n.*2850C=) n.4236C= | |
| 16 | g.1510921G>T | CA2631006474 | IFT140 | c.*23C>A (n.*23C>A) c.*2850C>A (n.*2850C>A) n.4236C>A | gnomAD v4 |
| 16 | g.1510922C= | CA2201718313 | IFT140 | c.*22G= (n.*22G=) c.*2849G= (n.*2849G=) n.4235G= | |
| 16 | g.1510922C>T | CA2201718314 | IFT140 | c.*22G>A (n.*22G>A) c.*2849G>A (n.*2849G>A) n.4235G>A | dbSNP gnomAD v4 |
| 16 | g.1510923T>C | CA7812751 | IFT140 | c.*21A>G (n.*21A>G) c.*2848A>G (n.*2848A>G) n.4234A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1510923T= | CA2201718315 | IFT140 | c.*21A= (n.*21A=) c.*2848A= (n.*2848A=) n.4234A= | |
| 16 | g.1510924G>T | CA2631006475 | IFT140 | c.*20C>A (n.*20C>A) c.*2847C>A (n.*2847C>A) n.4233C>A | gnomAD v4 |
| 16 | g.1510925G>C | CA718375753 | IFT140 | c.*19C>G (n.*19C>G) c.*2846C>G (n.*2846C>G) n.4232C>G | dbSNP |
| 16 | g.1510925G= | CA2201718316 | IFT140 | c.*19C= (n.*19C=) c.*2846C= (n.*2846C=) n.4232C= | |
| 16 | g.1510925G>T | CA2631006476 | IFT140 | c.*19C>A (n.*19C>A) c.*2846C>A (n.*2846C>A) n.4232C>A | gnomAD v4 |
| 16 | g.1510927C= | CA2201718317 | IFT140 | c.*17G= (n.*17G=) c.*2844G= (n.*2844G=) n.4230G= | |
| 16 | g.1510927C>T | CA7812752 | IFT140 | c.*17G>A (n.*17G>A) c.*2844G>A (n.*2844G>A) n.4230G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510928C>A | CA2805557682 | IFT140 | c.*16G>T (n.*16G>T) c.*2843G>T (n.*2843G>T) n.4229G>T | |
| 16 | g.1510928C= | CA2201718318 | IFT140 | c.*16G= (n.*16G=) c.*2843G= (n.*2843G=) n.4229G= | |
| 16 | g.1510928C>G | CA2201718319 | IFT140 | c.*16G>C (n.*16G>C) c.*2843G>C (n.*2843G>C) n.4229G>C | dbSNP |
| 16 | g.1510928C>T | CA7812753 | IFT140 | c.*16G>A (n.*16G>A) c.*2843G>A (n.*2843G>A) n.4229G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510930G>T | CA2575869123 | IFT140 | c.*14C>A (n.*14C>A) c.*2841C>A (n.*2841C>A) n.4227C>A | |
| 16 | g.1510933del | CA2575869122 | IFT140 | c.*14del (n.*14del) c.*2841del (n.*2841del) n.4227del | |
| 16 | g.1510931G>A | CA7812754 | IFT140 | c.*13C>T (n.*13C>T) c.*2840C>T (n.*2840C>T) n.4226C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510931G= | CA2201718320 | IFT140 | c.*13C= (n.*13C=) c.*2840C= (n.*2840C=) n.4226C= | |
| 16 | g.1510932G>A | CA7812755 | IFT140 | c.*12C>T (n.*12C>T) c.*2839C>T (n.*2839C>T) n.4225C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510932G= | CA2201718321 | IFT140 | c.*12C= (n.*12C=) c.*2839C= (n.*2839C=) n.4225C= | |
| 16 | g.1510933G>A | CA7812756 | IFT140 | c.*11C>T (n.*11C>T) c.*2838C>T (n.*2838C>T) n.4224C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510933G>C | CA2575869124 | IFT140 | c.*11C>G (n.*11C>G) c.*2838C>G (n.*2838C>G) n.4224C>G | |
| 16 | g.1510933G= | CA2201718322 | IFT140 | c.*11C= (n.*11C=) c.*2838C= (n.*2838C=) n.4224C= | |
| 16 | g.1510934C>T | CA2631006481 | IFT140 | c.*10G>A (n.*10G>A) c.*2837G>A (n.*2837G>A) n.4223G>A | gnomAD v4 |
| 16 | g.1510936del | CA2575869125 | IFT140 | c.*10del (n.*10del) c.*2837del (n.*2837del) n.4223del | gnomAD v4 |
| 16 | g.1510935C>T | CA2631006482 | IFT140 | c.*9G>A (n.*9G>A) c.*2836G>A (n.*2836G>A) n.4222G>A | gnomAD v4 |
| 16 | g.1510936C>A | CA2631006484 | IFT140 | c.*8G>T (n.*8G>T) c.*2835G>T (n.*2835G>T) n.4221G>T | gnomAD v4 |
| 16 | g.1510936C= | CA2201718323 | IFT140 | c.*8G= (n.*8G=) c.*2835G= (n.*2835G=) n.4221G= | |
| 16 | g.1510936C>G | CA2575869126 | IFT140 | c.*8G>C (n.*8G>C) c.*2835G>C (n.*2835G>C) n.4221G>C | |
| 16 | g.1510936C>T | CA718375764 | IFT140 | c.*8G>A (n.*8G>A) c.*2835G>A (n.*2835G>A) n.4221G>A | dbSNP |
| 16 | g.1510937A= | CA2201718324 | IFT140 | c.*7T= (n.*7T=) c.*2834T= (n.*2834T=) n.4220T= | |
| 16 | g.1510937A>G | CA7812757 | IFT140 | c.*7T>C (n.*7T>C) c.*2834T>C (n.*2834T>C) n.4220T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1510938G>T | CA2631006486 | IFT140 | c.*6C>A (n.*6C>A) c.*2833C>A (n.*2833C>A) n.4219C>A | gnomAD v4 |
| 16 | g.1510939G>A | CA620700846 | IFT140 | c.*5C>T (n.*5C>T) c.*2832C>T (n.*2832C>T) n.4218C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510939G= | CA2201718325 | IFT140 | c.*5C= (n.*5C=) c.*2832C= (n.*2832C=) n.4218C= | |
| 16 | g.1510939G>T | CA2631006487 | IFT140 | c.*5C>A (n.*5C>A) c.*2832C>A (n.*2832C>A) n.4218C>A | gnomAD v4 |
| 16 | g.1510940C>A | CA2575869127 | IFT140 | c.*4G>T (n.*4G>T) c.*2831G>T (n.*2831G>T) n.4217G>T | gnomAD v4 |
| 16 | g.1510940C= | CA2201718326 | IFT140 | c.*4G= (n.*4G=) c.*2831G= (n.*2831G=) n.4217G= | |
| 16 | g.1510940C>T | CA620700847 | IFT140 | c.*4G>A (n.*4G>A) c.*2831G>A (n.*2831G>A) n.4217G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510942C>A | CA2581243025 | IFT140 | c.*2G>T (n.*2G>T) c.*2829G>T (n.*2829G>T) n.4215G>T | |
| 16 | g.1510942C= | CA2201718327 | IFT140 | c.*2G= (n.*2G=) c.*2829G= (n.*2829G=) n.4215G= | |
| 16 | g.1510942C>G | CA2581243026 | IFT140 | c.*2G>C (n.*2G>C) c.*2829G>C (n.*2829G>C) n.4215G>C | |
| 16 | g.1510942C>T | CA7812758 | IFT140 | c.*2G>A (n.*2G>A) c.*2829G>A (n.*2829G>A) n.4215G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510943C>A | CA2631006488 | IFT140 | c.*1G>T (n.*1G>T) c.*2828G>T (n.*2828G>T) n.4214G>T | gnomAD v4 |
| 16 | g.1510944T>A | CA394222168 | IFT140 | c.4389A>T (p.Ter1463Cys) c.1971A>T (p.Ter657Cys) c.*2827A>T (n.*2827A>T) n.4213A>T c.2022A>T (p.Ter674Cys) c.4143A>T (p.Ter1381Cys) c.3414A>T (p.Ter1138Cys) c.2574A>T (p.Ter858Cys) | gnomAD v4 |
| 16 | g.1510944T>C | CA394222169 | IFT140 | c.4389A>G (p.Ter1463Trp) c.1971A>G (p.Ter657Trp) c.*2827A>G (n.*2827A>G) n.4213A>G c.2022A>G (p.Ter674Trp) c.4143A>G (p.Ter1381Trp) c.3414A>G (p.Ter1138Trp) c.2574A>G (p.Ter858Trp) | |
| 16 | g.1510944T>G | CA394222170 | IFT140 | c.4389A>C (p.Ter1463Cys) c.1971A>C (p.Ter657Cys) c.*2827A>C (n.*2827A>C) n.4213A>C c.2022A>C (p.Ter674Cys) c.4143A>C (p.Ter1381Cys) c.3414A>C (p.Ter1138Cys) c.2574A>C (p.Ter858Cys) | |
| 16 | g.1510945C>A | CA394222171 | IFT140 | c.4388G>T (p.Ter1463Leu) c.1970G>T (p.Ter657Leu) c.*2826G>T (n.*2826G>T) n.4212G>T c.2021G>T (p.Ter674Leu) c.4142G>T (p.Ter1381Leu) c.3413G>T (p.Ter1138Leu) c.2573G>T (p.Ter858Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1510945C= | CA2201718329 | IFT140 | c.4388G= (p.Ter1463=) c.1970G= (p.Ter657=) c.*2826G= (n.*2826G=) n.4212G= c.2021G= (p.Ter674=) c.4142G= (p.Ter1381=) c.3413G= (p.Ter1138=) c.2573G= (p.Ter858=) | |
| 16 | g.1510945C>G | CA394222172 | IFT140 | c.4388G>C (p.Ter1463Ser) c.1970G>C (p.Ter657Ser) c.*2826G>C (n.*2826G>C) n.4212G>C c.2021G>C (p.Ter674Ser) c.4142G>C (p.Ter1381Ser) c.3413G>C (p.Ter1138Ser) c.2573G>C (p.Ter858Ser) | |
| 16 | g.1510945C>T | CA7812759 | IFT140 | c.4388G>A (p.Ter1463=) c.1970G>A (p.Ter657=) c.*2826G>A (n.*2826G>A) n.4212G>A c.2021G>A (p.Ter674=) c.4142G>A (p.Ter1381=) c.3413G>A (p.Ter1138=) c.2573G>A (p.Ter858=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510945_1510946delinsCA | CA2201718328 | IFT140 | c.4387_4388delinsTG (p.Ter1463=) c.1969_1970delinsTG (p.Ter657=) c.*2825_*2826delinsTG (n.*2825_*2826delinsTG) n.4211_4212delinsTG c.2020_2021delinsTG (p.Ter674=) c.4141_4142delinsTG (p.Ter1381=) c.3412_3413delinsTG (p.Ter1138=) c.2572_2573delinsTG (p.Ter858=) | |
| 16 | g.1510945_1510947delinsCAG | CA2201718330 | IFT140 | c.4386_4388delinsCTG (p.Pro1462=) c.1968_1970delinsCTG (p.Pro656=) c.*2824_*2826delinsCTG (n.*2824_*2826delinsCTG) n.4210_4212delinsCTG c.2019_2021delinsCTG (p.Pro673=) c.4140_4142delinsCTG (p.Pro1380=) c.3411_3413delinsCTG (p.Pro1137=) c.2571_2573delinsCTG (p.Pro857=) | |
| 16 | g.1510946del | CA7812760 | IFT140 | c.4387del (p.Ter1463GluextTer?) c.1969del (p.Ter657GluextTer?) c.*2825del (n.*2825del) n.4211del c.2020del (p.Ter674GluextTer?) c.4141del (p.Ter1381GluextTer?) c.3412del (p.Ter1138GluextTer?) c.2572del (p.Ter858GluextTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510946A>C | CA394222173 | IFT140 | c.4387T>G (p.Ter1463Gly) c.1969T>G (p.Ter657Gly) c.*2825T>G (n.*2825T>G) n.4211T>G c.2020T>G (p.Ter674Gly) c.4141T>G (p.Ter1381Gly) c.3412T>G (p.Ter1138Gly) c.2572T>G (p.Ter858Gly) | |
| 16 | g.1510946A>G | CA394222174 | IFT140 | c.4387T>C (p.Ter1463Arg) c.1969T>C (p.Ter657Arg) c.*2825T>C (n.*2825T>C) n.4211T>C c.2020T>C (p.Ter674Arg) c.4141T>C (p.Ter1381Arg) c.3412T>C (p.Ter1138Arg) c.2572T>C (p.Ter858Arg) | |
| 16 | g.1510946A>T | CA394222175 | IFT140 | c.4387T>A (p.Ter1463Arg) c.1969T>A (p.Ter657Arg) c.*2825T>A (n.*2825T>A) n.4211T>A c.2020T>A (p.Ter674Arg) c.4141T>A (p.Ter1381Arg) c.3412T>A (p.Ter1138Arg) c.2572T>A (p.Ter858Arg) | |
| 16 | g.1510946_1510947del | CA2201718331 | IFT140 | c.4386_4387del (p.Ter1463ArgextTer?) c.1968_1969del (p.Ter657ArgextTer?) c.*2824_*2825del (n.*2824_*2825del) n.4210_4211del c.2019_2020del (p.Ter674ArgextTer?) c.4140_4141del (p.Ter1381ArgextTer?) c.3411_3412del (p.Ter1138ArgextTer?) c.2571_2572del (p.Ter858ArgextTer?) | ClinVar dbSNP |
| 16 | g.1510947G>A | CA493031319 | IFT140 | c.4386C>T (p.Pro1462=) c.1968C>T (p.Pro656=) c.*2824C>T (n.*2824C>T) n.4210C>T c.2019C>T (p.Pro673=) c.4140C>T (p.Pro1380=) c.3411C>T (p.Pro1137=) c.2571C>T (p.Pro857=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510947G>C | CA7812761 | IFT140 | c.4386C>G (p.Pro1462=) c.1968C>G (p.Pro656=) c.*2824C>G (n.*2824C>G) n.4210C>G c.2019C>G (p.Pro673=) c.4140C>G (p.Pro1380=) c.3411C>G (p.Pro1137=) c.2571C>G (p.Pro857=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510947G= | CA2201718332 | IFT140 | c.4386C= (p.Pro1462=) c.1968C= (p.Pro656=) c.*2824C= (n.*2824C=) n.4210C= c.2019C= (p.Pro673=) c.4140C= (p.Pro1380=) c.3411C= (p.Pro1137=) c.2571C= (p.Pro857=) | |
| 16 | g.1510947G>T | CA493031320 | IFT140 | c.4386C>A (p.Pro1462=) c.1968C>A (p.Pro656=) c.*2824C>A (n.*2824C>A) n.4210C>A c.2019C>A (p.Pro673=) c.4140C>A (p.Pro1380=) c.3411C>A (p.Pro1137=) c.2571C>A (p.Pro857=) | |
| 16 | g.1510948G>A | CA394222176 | IFT140 | c.4385C>T (p.Pro1462Leu) c.1967C>T (p.Pro656Leu) c.*2823C>T (n.*2823C>T) n.4209C>T c.2018C>T (p.Pro673Leu) c.4139C>T (p.Pro1380Leu) c.3410C>T (p.Pro1137Leu) c.2570C>T (p.Pro857Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510948G>C | CA394222177 | IFT140 | c.4385C>G (p.Pro1462Arg) c.1967C>G (p.Pro656Arg) c.*2823C>G (n.*2823C>G) n.4209C>G c.2018C>G (p.Pro673Arg) c.4139C>G (p.Pro1380Arg) c.3410C>G (p.Pro1137Arg) c.2570C>G (p.Pro857Arg) | |
| 16 | g.1510948G= | CA2201718333 | IFT140 | c.4385C= (p.Pro1462=) c.1967C= (p.Pro656=) c.*2823C= (n.*2823C=) n.4209C= c.2018C= (p.Pro673=) c.4139C= (p.Pro1380=) c.3410C= (p.Pro1137=) c.2570C= (p.Pro857=) | |
| 16 | g.1510948G>T | CA394222178 | IFT140 | c.4385C>A (p.Pro1462His) c.1967C>A (p.Pro656His) c.*2823C>A (n.*2823C>A) n.4209C>A c.2018C>A (p.Pro673His) c.4139C>A (p.Pro1380His) c.3410C>A (p.Pro1137His) c.2570C>A (p.Pro857His) | |
| 16 | g.1510949G>A | CA394222179 | IFT140 | c.4384C>T (p.Pro1462Ser) c.1966C>T (p.Pro656Ser) c.*2822C>T (n.*2822C>T) n.4208C>T c.2017C>T (p.Pro673Ser) c.4138C>T (p.Pro1380Ser) c.3409C>T (p.Pro1137Ser) c.2569C>T (p.Pro857Ser) | |
| 16 | g.1510949G>C | CA394222180 | IFT140 | c.4384C>G (p.Pro1462Ala) c.1966C>G (p.Pro656Ala) c.*2822C>G (n.*2822C>G) n.4208C>G c.2017C>G (p.Pro673Ala) c.4138C>G (p.Pro1380Ala) c.3409C>G (p.Pro1137Ala) c.2569C>G (p.Pro857Ala) | |
| 16 | g.1510949G= | CA2201718335 | IFT140 | c.4384C= (p.Pro1462=) c.1966C= (p.Pro656=) c.*2822C= (n.*2822C=) n.4208C= c.2017C= (p.Pro673=) c.4138C= (p.Pro1380=) c.3409C= (p.Pro1137=) c.2569C= (p.Pro857=) | |
| 16 | g.1510949G>T | CA394222181 | IFT140 | c.4384C>A (p.Pro1462Thr) c.1966C>A (p.Pro656Thr) c.*2822C>A (n.*2822C>A) n.4208C>A c.2017C>A (p.Pro673Thr) c.4138C>A (p.Pro1380Thr) c.3409C>A (p.Pro1137Thr) c.2569C>A (p.Pro857Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510949_1510952delinsGGTC | CA2201718334 | IFT140 | c.4381_4384delinsGACC (p.Asp1461=) c.1963_1966delinsGACC (p.Asp655=) c.*2819_*2822delinsGACC (n.*2819_*2822delinsGACC) n.4205_4208delinsGACC c.2014_2017delinsGACC (p.Asp672=) c.4135_4138delinsGACC (p.Asp1379=) c.3406_3409delinsGACC (p.Asp1136=) c.2566_2569delinsGACC (p.Asp856=) | |
| 16 | g.1510950G>A | CA7812763 | IFT140 | c.4383C>T (p.Asp1461=) c.1965C>T (p.Asp655=) c.*2821C>T (n.*2821C>T) n.4207C>T c.2016C>T (p.Asp672=) c.4137C>T (p.Asp1379=) c.3408C>T (p.Asp1136=) c.2568C>T (p.Asp856=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510950G>C | CA394222183 | IFT140 | c.4383C>G (p.Asp1461Glu) c.1965C>G (p.Asp655Glu) c.*2821C>G (n.*2821C>G) n.4207C>G c.2016C>G (p.Asp672Glu) c.4137C>G (p.Asp1379Glu) c.3408C>G (p.Asp1136Glu) c.2568C>G (p.Asp856Glu) | |
| 16 | g.1510950G= | CA2201718336 | IFT140 | c.4383C= (p.Asp1461=) c.1965C= (p.Asp655=) c.*2821C= (n.*2821C=) n.4207C= c.2016C= (p.Asp672=) c.4137C= (p.Asp1379=) c.3408C= (p.Asp1136=) c.2568C= (p.Asp856=) | |
| 16 | g.1510950G>T | CA394222182 | IFT140 | c.4383C>A (p.Asp1461Glu) c.1965C>A (p.Asp655Glu) c.*2821C>A (n.*2821C>A) n.4207C>A c.2016C>A (p.Asp672Glu) c.4137C>A (p.Asp1379Glu) c.3408C>A (p.Asp1136Glu) c.2568C>A (p.Asp856Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510953_1510955del | CA7812762 | IFT140 | c.4381_4383del (p.Asp1461del) c.1963_1965del (p.Asp655del) c.*2819_*2821del (n.*2819_*2821del) n.4205_4207del c.2014_2016del (p.Asp672del) c.4135_4137del (p.Asp1379del) c.3406_3408del (p.Asp1136del) c.2566_2568del (p.Asp856del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510951T>A | CA394222184 | IFT140 | c.4382A>T (p.Asp1461Val) c.1964A>T (p.Asp655Val) c.*2820A>T (n.*2820A>T) n.4206A>T c.2015A>T (p.Asp672Val) c.4136A>T (p.Asp1379Val) c.3407A>T (p.Asp1136Val) c.2567A>T (p.Asp856Val) | |
| 16 | g.1510951T>C | CA394222185 | IFT140 | c.4382A>G (p.Asp1461Gly) c.1964A>G (p.Asp655Gly) c.*2820A>G (n.*2820A>G) n.4206A>G c.2015A>G (p.Asp672Gly) c.4136A>G (p.Asp1379Gly) c.3407A>G (p.Asp1136Gly) c.2567A>G (p.Asp856Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510951T>G | CA394222186 | IFT140 | c.4382A>C (p.Asp1461Ala) c.1964A>C (p.Asp655Ala) c.*2820A>C (n.*2820A>C) n.4206A>C c.2015A>C (p.Asp672Ala) c.4136A>C (p.Asp1379Ala) c.3407A>C (p.Asp1136Ala) c.2567A>C (p.Asp856Ala) | |
| 16 | g.1510951T= | CA2201718337 | IFT140 | c.4382A= (p.Asp1461=) c.1964A= (p.Asp655=) c.*2820A= (n.*2820A=) n.4206A= c.2015A= (p.Asp672=) c.4136A= (p.Asp1379=) c.3407A= (p.Asp1136=) c.2567A= (p.Asp856=) | |
| 16 | g.1510952C>A | CA394222187 | IFT140 | c.4381G>T (p.Asp1461Tyr) c.1963G>T (p.Asp655Tyr) c.*2819G>T (n.*2819G>T) n.4205G>T c.2014G>T (p.Asp672Tyr) c.4135G>T (p.Asp1379Tyr) c.3406G>T (p.Asp1136Tyr) c.2566G>T (p.Asp856Tyr) | |
| 16 | g.1510952C= | CA2201718338 | IFT140 | c.4381G= (p.Asp1461=) c.1963G= (p.Asp655=) c.*2819G= (n.*2819G=) n.4205G= c.2014G= (p.Asp672=) c.4135G= (p.Asp1379=) c.3406G= (p.Asp1136=) c.2566G= (p.Asp856=) | |
| 16 | g.1510952C>G | CA394222188 | IFT140 | c.4381G>C (p.Asp1461His) c.1963G>C (p.Asp655His) c.*2819G>C (n.*2819G>C) n.4205G>C c.2014G>C (p.Asp672His) c.4135G>C (p.Asp1379His) c.3406G>C (p.Asp1136His) c.2566G>C (p.Asp856His) | dbSNP gnomAD v4 |
| 16 | g.1510952C>T | CA7812764 | IFT140 | c.4381G>A (p.Asp1461Asn) c.1963G>A (p.Asp655Asn) c.*2819G>A (n.*2819G>A) n.4205G>A c.2014G>A (p.Asp672Asn) c.4135G>A (p.Asp1379Asn) c.3406G>A (p.Asp1136Asn) c.2566G>A (p.Asp856Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510953G>A | CA7812765 | IFT140 | c.4380C>T (p.Asp1460=) c.1962C>T (p.Asp654=) c.*2818C>T (n.*2818C>T) n.4204C>T c.2013C>T (p.Asp671=) c.4134C>T (p.Asp1378=) c.3405C>T (p.Asp1135=) c.2565C>T (p.Asp855=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.1510953G>C | CA394222189 | IFT140 | c.4380C>G (p.Asp1460Glu) c.1962C>G (p.Asp654Glu) c.*2818C>G (n.*2818C>G) n.4204C>G c.2013C>G (p.Asp671Glu) c.4134C>G (p.Asp1378Glu) c.3405C>G (p.Asp1135Glu) c.2565C>G (p.Asp855Glu) | |
| 16 | g.1510953G= | CA2201718339 | IFT140 | c.4380C= (p.Asp1460=) c.1962C= (p.Asp654=) c.*2818C= (n.*2818C=) n.4204C= c.2013C= (p.Asp671=) c.4134C= (p.Asp1378=) c.3405C= (p.Asp1135=) c.2565C= (p.Asp855=) | |
| 16 | g.1510953G>T | CA394222190 | IFT140 | c.4380C>A (p.Asp1460Glu) c.1962C>A (p.Asp654Glu) c.*2818C>A (n.*2818C>A) n.4204C>A c.2013C>A (p.Asp671Glu) c.4134C>A (p.Asp1378Glu) c.3405C>A (p.Asp1135Glu) c.2565C>A (p.Asp855Glu) | |
| 16 | g.1510954T>A | CA394222191 | IFT140 | c.4379A>T (p.Asp1460Val) c.1961A>T (p.Asp654Val) c.*2817A>T (n.*2817A>T) n.4203A>T c.2012A>T (p.Asp671Val) c.4133A>T (p.Asp1378Val) c.3404A>T (p.Asp1135Val) c.2564A>T (p.Asp855Val) | |
| 16 | g.1510954T>C | CA7812766 | IFT140 | c.4379A>G (p.Asp1460Gly) c.1961A>G (p.Asp654Gly) c.*2817A>G (n.*2817A>G) n.4203A>G c.2012A>G (p.Asp671Gly) c.4133A>G (p.Asp1378Gly) c.3404A>G (p.Asp1135Gly) c.2564A>G (p.Asp855Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510954T>G | CA394222192 | IFT140 | c.4379A>C (p.Asp1460Ala) c.1961A>C (p.Asp654Ala) c.*2817A>C (n.*2817A>C) n.4203A>C c.2012A>C (p.Asp671Ala) c.4133A>C (p.Asp1378Ala) c.3404A>C (p.Asp1135Ala) c.2564A>C (p.Asp855Ala) | |
| 16 | g.1510954T= | CA2201718340 | IFT140 | c.4379A= (p.Asp1460=) c.1961A= (p.Asp654=) c.*2817A= (n.*2817A=) n.4203A= c.2012A= (p.Asp671=) c.4133A= (p.Asp1378=) c.3404A= (p.Asp1135=) c.2564A= (p.Asp855=) | |
| 16 | g.1510955C>A | CA394222193 | IFT140 | c.4378G>T (p.Asp1460Tyr) c.1960G>T (p.Asp654Tyr) c.*2816G>T (n.*2816G>T) n.4202G>T c.2011G>T (p.Asp671Tyr) c.4132G>T (p.Asp1378Tyr) c.3403G>T (p.Asp1135Tyr) c.2563G>T (p.Asp855Tyr) | gnomAD v4 |
| 16 | g.1510955C= | CA2201718341 | IFT140 | c.4378G= (p.Asp1460=) c.1960G= (p.Asp654=) c.*2816G= (n.*2816G=) n.4202G= c.2011G= (p.Asp671=) c.4132G= (p.Asp1378=) c.3403G= (p.Asp1135=) c.2563G= (p.Asp855=) | |
| 16 | g.1510955C>G | CA7812769 | IFT140 | c.4378G>C (p.Asp1460His) c.1960G>C (p.Asp654His) c.*2816G>C (n.*2816G>C) n.4202G>C c.2011G>C (p.Asp671His) c.4132G>C (p.Asp1378His) c.3403G>C (p.Asp1135His) c.2563G>C (p.Asp855His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1510955C>T | CA7812767 | IFT140 | c.4378G>A (p.Asp1460Asn) c.1960G>A (p.Asp654Asn) c.*2816G>A (n.*2816G>A) n.4202G>A c.2011G>A (p.Asp671Asn) c.4132G>A (p.Asp1378Asn) c.3403G>A (p.Asp1135Asn) c.2563G>A (p.Asp855Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510955_1510956insT | CA7812768 | IFT140 | c.4377_4378insA (p.Asp1460ArgfsTer?) c.1959_1960insA (p.Asp654ArgfsTer?) c.*2815_*2816insA (n.*2815_*2816insA) n.4201_4202insA c.2010_2011insA (p.Asp671ArgfsTer?) c.4131_4132insA (p.Asp1378ArgfsTer?) c.3402_3403insA (p.Asp1135ArgfsTer?) c.2562_2563insA (p.Asp855ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510956A>C | CA394222194 | IFT140 | c.4377T>G (p.Asp1459Glu) c.1959T>G (p.Asp653Glu) c.*2815T>G (n.*2815T>G) n.4201T>G c.2010T>G (p.Asp670Glu) c.4131T>G (p.Asp1377Glu) c.3402T>G (p.Asp1134Glu) c.2562T>G (p.Asp854Glu) | |
| 16 | g.1510956A>G | CA493031326 | IFT140 | c.4377T>C (p.Asp1459=) c.1959T>C (p.Asp653=) c.*2815T>C (n.*2815T>C) n.4201T>C c.2010T>C (p.Asp670=) c.4131T>C (p.Asp1377=) c.3402T>C (p.Asp1134=) c.2562T>C (p.Asp854=) | |
| 16 | g.1510956A>T | CA394222195 | IFT140 | c.4377T>A (p.Asp1459Glu) c.1959T>A (p.Asp653Glu) c.*2815T>A (n.*2815T>A) n.4201T>A c.2010T>A (p.Asp670Glu) c.4131T>A (p.Asp1377Glu) c.3402T>A (p.Asp1134Glu) c.2562T>A (p.Asp854Glu) | |
| 16 | g.1510957T>A | CA394222196 | IFT140 | c.4376A>T (p.Asp1459Val) c.1958A>T (p.Asp653Val) c.*2814A>T (n.*2814A>T) n.4200A>T c.2009A>T (p.Asp670Val) c.4130A>T (p.Asp1377Val) c.3401A>T (p.Asp1134Val) c.2561A>T (p.Asp854Val) | gnomAD v4 |
| 16 | g.1510957T>C | CA394222197 | IFT140 | c.4376A>G (p.Asp1459Gly) c.1958A>G (p.Asp653Gly) c.*2814A>G (n.*2814A>G) n.4200A>G c.2009A>G (p.Asp670Gly) c.4130A>G (p.Asp1377Gly) c.3401A>G (p.Asp1134Gly) c.2561A>G (p.Asp854Gly) | |
| 16 | g.1510957T>G | CA394222198 | IFT140 | c.4376A>C (p.Asp1459Ala) c.1958A>C (p.Asp653Ala) c.*2814A>C (n.*2814A>C) n.4200A>C c.2009A>C (p.Asp670Ala) c.4130A>C (p.Asp1377Ala) c.3401A>C (p.Asp1134Ala) c.2561A>C (p.Asp854Ala) | |
| 16 | g.1510958C>A | CA394222199 | IFT140 | c.4375G>T (p.Asp1459Tyr) c.1957G>T (p.Asp653Tyr) c.*2813G>T (n.*2813G>T) n.4199G>T c.2008G>T (p.Asp670Tyr) c.4129G>T (p.Asp1377Tyr) c.3400G>T (p.Asp1134Tyr) c.2560G>T (p.Asp854Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510958C= | CA2201718342 | IFT140 | c.4375G= (p.Asp1459=) c.1957G= (p.Asp653=) c.*2813G= (n.*2813G=) n.4199G= c.2008G= (p.Asp670=) c.4129G= (p.Asp1377=) c.3400G= (p.Asp1134=) c.2560G= (p.Asp854=) | |
| 16 | g.1510958C>G | CA7812770 | IFT140 | c.4375G>C (p.Asp1459His) c.1957G>C (p.Asp653His) c.*2813G>C (n.*2813G>C) n.4199G>C c.2008G>C (p.Asp670His) c.4129G>C (p.Asp1377His) c.3400G>C (p.Asp1134His) c.2560G>C (p.Asp854His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1510958C>T | CA394222200 | IFT140 | c.4375G>A (p.Asp1459Asn) c.1957G>A (p.Asp653Asn) c.*2813G>A (n.*2813G>A) n.4199G>A c.2008G>A (p.Asp670Asn) c.4129G>A (p.Asp1377Asn) c.3400G>A (p.Asp1134Asn) c.2560G>A (p.Asp854Asn) | |
| 16 | g.1510958_1510959insAGA | CA2805557692 | IFT140 | c.4374_4375insTCT (p.Ala1458_Asp1459insSer) c.1956_1957insTCT (p.Ala652_Asp653insSer) c.*2812_*2813insTCT (n.*2812_*2813insTCT) n.4198_4199insTCT c.2007_2008insTCT (p.Ala669_Asp670insSer) c.4128_4129insTCT (p.Ala1376_Asp1377insSer) c.3399_3400insTCT (p.Ala1133_Asp1134insSer) c.2559_2560insTCT (p.Ala853_Asp854insSer) | |
| 16 | g.1510959T>A | CA493031330 | IFT140 | c.4374A>T (p.Ala1458=) c.1956A>T (p.Ala652=) c.*2812A>T (n.*2812A>T) n.4198A>T c.2007A>T (p.Ala669=) c.4128A>T (p.Ala1376=) c.3399A>T (p.Ala1133=) c.2559A>T (p.Ala853=) | |
| 16 | g.1510959T>C | CA493031331 | IFT140 | c.4374A>G (p.Ala1458=) c.1956A>G (p.Ala652=) c.*2812A>G (n.*2812A>G) n.4198A>G c.2007A>G (p.Ala669=) c.4128A>G (p.Ala1376=) c.3399A>G (p.Ala1133=) c.2559A>G (p.Ala853=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510959T>G | CA493031332 | IFT140 | c.4374A>C (p.Ala1458=) c.1956A>C (p.Ala652=) c.*2812A>C (n.*2812A>C) n.4198A>C c.2007A>C (p.Ala669=) c.4128A>C (p.Ala1376=) c.3399A>C (p.Ala1133=) c.2559A>C (p.Ala853=) | |
| 16 | g.1510959T= | CA2201718343 | IFT140 | c.4374A= (p.Ala1458=) c.1956A= (p.Ala652=) c.*2812A= (n.*2812A=) n.4198A= c.2007A= (p.Ala669=) c.4128A= (p.Ala1376=) c.3399A= (p.Ala1133=) c.2559A= (p.Ala853=) | |
| 16 | g.1510960G>A | CA394222201 | IFT140 | c.4373C>T (p.Ala1458Val) c.1955C>T (p.Ala652Val) c.*2811C>T (n.*2811C>T) n.4197C>T c.2006C>T (p.Ala669Val) c.4127C>T (p.Ala1376Val) c.3398C>T (p.Ala1133Val) c.2558C>T (p.Ala853Val) | dbSNP |
| 16 | g.1510960G>C | CA394222202 | IFT140 | c.4373C>G (p.Ala1458Gly) c.1955C>G (p.Ala652Gly) c.*2811C>G (n.*2811C>G) n.4197C>G c.2006C>G (p.Ala669Gly) c.4127C>G (p.Ala1376Gly) c.3398C>G (p.Ala1133Gly) c.2558C>G (p.Ala853Gly) | |
| 16 | g.1510960G= | CA2201718344 | IFT140 | c.4373C= (p.Ala1458=) c.1955C= (p.Ala652=) c.*2811C= (n.*2811C=) n.4197C= c.2006C= (p.Ala669=) c.4127C= (p.Ala1376=) c.3398C= (p.Ala1133=) c.2558C= (p.Ala853=) | |
| 16 | g.1510960G>T | CA394222203 | IFT140 | c.4373C>A (p.Ala1458Glu) c.1955C>A (p.Ala652Glu) c.*2811C>A (n.*2811C>A) n.4197C>A c.2006C>A (p.Ala669Glu) c.4127C>A (p.Ala1376Glu) c.3398C>A (p.Ala1133Glu) c.2558C>A (p.Ala853Glu) | |
| 16 | g.1510961C>A | CA394222206 | IFT140 | c.4372G>T (p.Ala1458Ser) c.1954G>T (p.Ala652Ser) c.*2810G>T (n.*2810G>T) n.4196G>T c.2005G>T (p.Ala669Ser) c.4126G>T (p.Ala1376Ser) c.3397G>T (p.Ala1133Ser) c.2557G>T (p.Ala853Ser) | |
| 16 | g.1510961C= | CA2201718345 | IFT140 | c.4372G= (p.Ala1458=) c.1954G= (p.Ala652=) c.*2810G= (n.*2810G=) n.4196G= c.2005G= (p.Ala669=) c.4126G= (p.Ala1376=) c.3397G= (p.Ala1133=) c.2557G= (p.Ala853=) | |
| 16 | g.1510961C>G | CA394222205 | IFT140 | c.4372G>C (p.Ala1458Pro) c.1954G>C (p.Ala652Pro) c.*2810G>C (n.*2810G>C) n.4196G>C c.2005G>C (p.Ala669Pro) c.4126G>C (p.Ala1376Pro) c.3397G>C (p.Ala1133Pro) c.2557G>C (p.Ala853Pro) | |
| 16 | g.1510961C>T | CA394222204 | IFT140 | c.4372G>A (p.Ala1458Thr) c.1954G>A (p.Ala652Thr) c.*2810G>A (n.*2810G>A) n.4196G>A c.2005G>A (p.Ala669Thr) c.4126G>A (p.Ala1376Thr) c.3397G>A (p.Ala1133Thr) c.2557G>A (p.Ala853Thr) | dbSNP gnomAD v4 |
| 16 | g.1510962C>A | CA394222207 | IFT140 | c.4371G>T (p.Glu1457Asp) c.1953G>T (p.Glu651Asp) c.*2809G>T (n.*2809G>T) n.4195G>T c.2004G>T (p.Glu668Asp) c.4125G>T (p.Glu1375Asp) c.3396G>T (p.Glu1132Asp) c.2556G>T (p.Glu852Asp) | |
| 16 | g.1510962C= | CA2201718346 | IFT140 | c.4371G= (p.Glu1457=) c.1953G= (p.Glu651=) c.*2809G= (n.*2809G=) n.4195G= c.2004G= (p.Glu668=) c.4125G= (p.Glu1375=) c.3396G= (p.Glu1132=) c.2556G= (p.Glu852=) | |
| 16 | g.1510962C>G | CA394222208 | IFT140 | c.4371G>C (p.Glu1457Asp) c.1953G>C (p.Glu651Asp) c.*2809G>C (n.*2809G>C) n.4195G>C c.2004G>C (p.Glu668Asp) c.4125G>C (p.Glu1375Asp) c.3396G>C (p.Glu1132Asp) c.2556G>C (p.Glu852Asp) | |
| 16 | g.1510962C>T | CA493031335 | IFT140 | c.4371G>A (p.Glu1457=) c.1953G>A (p.Glu651=) c.*2809G>A (n.*2809G>A) n.4195G>A c.2004G>A (p.Glu668=) c.4125G>A (p.Glu1375=) c.3396G>A (p.Glu1132=) c.2556G>A (p.Glu852=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1510963T>A | CA394222209 | IFT140 | c.4370A>T (p.Glu1457Val) c.1952A>T (p.Glu651Val) c.*2808A>T (n.*2808A>T) n.4194A>T c.2003A>T (p.Glu668Val) c.4124A>T (p.Glu1375Val) c.3395A>T (p.Glu1132Val) c.2555A>T (p.Glu852Val) | gnomAD v4 |
| 16 | g.1510963T>C | CA394222211 | IFT140 | c.4370A>G (p.Glu1457Gly) c.1952A>G (p.Glu651Gly) c.*2808A>G (n.*2808A>G) n.4194A>G c.2003A>G (p.Glu668Gly) c.4124A>G (p.Glu1375Gly) c.3395A>G (p.Glu1132Gly) c.2555A>G (p.Glu852Gly) | |
| 16 | g.1510963T>G | CA394222210 | IFT140 | c.4370A>C (p.Glu1457Ala) c.1952A>C (p.Glu651Ala) c.*2808A>C (n.*2808A>C) n.4194A>C c.2003A>C (p.Glu668Ala) c.4124A>C (p.Glu1375Ala) c.3395A>C (p.Glu1132Ala) c.2555A>C (p.Glu852Ala) | |
| 16 | g.1510964C>A | CA394222212 | IFT140 | c.4369G>T (p.Glu1457Ter) c.1951G>T (p.Glu651Ter) c.*2807G>T (n.*2807G>T) n.4193G>T c.2002G>T (p.Glu668Ter) c.4123G>T (p.Glu1375Ter) c.3394G>T (p.Glu1132Ter) c.2554G>T (p.Glu852Ter) | |
| 16 | g.1510964C>G | CA394222213 | IFT140 | c.4369G>C (p.Glu1457Gln) c.1951G>C (p.Glu651Gln) c.*2807G>C (n.*2807G>C) n.4193G>C c.2002G>C (p.Glu668Gln) c.4123G>C (p.Glu1375Gln) c.3394G>C (p.Glu1132Gln) c.2554G>C (p.Glu852Gln) | gnomAD v4 |
| 16 | g.1510964C>T | CA394222214 | IFT140 | c.4369G>A (p.Glu1457Lys) c.1951G>A (p.Glu651Lys) c.*2807G>A (n.*2807G>A) n.4193G>A c.2002G>A (p.Glu668Lys) c.4123G>A (p.Glu1375Lys) c.3394G>A (p.Glu1132Lys) c.2554G>A (p.Glu852Lys) | |
| 16 | g.1510965T>A | CA394222215 | IFT140 | c.4368A>T (p.Glu1456Asp) c.1950A>T (p.Glu650Asp) c.*2806A>T (n.*2806A>T) n.4192A>T c.2001A>T (p.Glu667Asp) c.4122A>T (p.Glu1374Asp) c.3393A>T (p.Glu1131Asp) c.2553A>T (p.Glu851Asp) | |
| 16 | g.1510965T>C | CA493031338 | IFT140 | c.4368A>G (p.Glu1456=) c.1950A>G (p.Glu650=) c.*2806A>G (n.*2806A>G) n.4192A>G c.2001A>G (p.Glu667=) c.4122A>G (p.Glu1374=) c.3393A>G (p.Glu1131=) c.2553A>G (p.Glu851=) | |
| 16 | g.1510965T>G | CA394222216 | IFT140 | c.4368A>C (p.Glu1456Asp) c.1950A>C (p.Glu650Asp) c.*2806A>C (n.*2806A>C) n.4192A>C c.2001A>C (p.Glu667Asp) c.4122A>C (p.Glu1374Asp) c.3393A>C (p.Glu1131Asp) c.2553A>C (p.Glu851Asp) | |
| 16 | g.1510965_1510986delinsTTCCACCACCTCCTCGTCCAGC | CA2201718347 | IFT140 | c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu1449=) c.1929_1950delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu643=) c.*2785_*2806delinsGCTGGACGAGGAGGTGGTGGAA (n.*2785_*2806delinsGCTGGACGAGGAGGTGGTGGAA) n.4171_4192delinsGCTGGACGAGGAGGTGGTGGAA c.1980_2001delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu660=) c.4101_4122delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu1367=) c.3372_3393delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu1124=) c.2532_2553delinsGCTGGACGAGGAGGTGGTGGAA (p.Glu844=) | |
| 16 | g.1510965_1510966insAG | CA2805557697 | IFT140 | c.4367_4368insCT (p.Glu1456AspfsTer2) c.1949_1950insCT (p.Glu650AspfsTer2) c.*2805_*2806insCT (n.*2805_*2806insCT) n.4191_4192insCT c.2000_2001insCT (p.Glu667AspfsTer2) c.4121_4122insCT (p.Glu1374AspfsTer2) c.3392_3393insCT (p.Glu1131AspfsTer2) c.2552_2553insCT (p.Glu851AspfsTer2) | |
| 16 | g.1510966T>A | CA394222217 | IFT140 | c.4367A>T (p.Glu1456Val) c.1949A>T (p.Glu650Val) c.*2805A>T (n.*2805A>T) n.4191A>T c.2000A>T (p.Glu667Val) c.4121A>T (p.Glu1374Val) c.3392A>T (p.Glu1131Val) c.2552A>T (p.Glu851Val) | |
| 16 | g.1510966T>C | CA394222218 | IFT140 | c.4367A>G (p.Glu1456Gly) c.1949A>G (p.Glu650Gly) c.*2805A>G (n.*2805A>G) n.4191A>G c.2000A>G (p.Glu667Gly) c.4121A>G (p.Glu1374Gly) c.3392A>G (p.Glu1131Gly) c.2552A>G (p.Glu851Gly) | |
| 16 | g.1510966T>G | CA394222219 | IFT140 | c.4367A>C (p.Glu1456Ala) c.1949A>C (p.Glu650Ala) c.*2805A>C (n.*2805A>C) n.4191A>C c.2000A>C (p.Glu667Ala) c.4121A>C (p.Glu1374Ala) c.3392A>C (p.Glu1131Ala) c.2552A>C (p.Glu851Ala) | |
| 16 | g.1510966_1510969delinsTCCA | CA2201718348 | IFT140 | c.4364_4367delinsTGGA (p.Val1455=) c.1946_1949delinsTGGA (p.Val649=) c.*2802_*2805delinsTGGA (n.*2802_*2805delinsTGGA) n.4188_4191delinsTGGA c.1997_2000delinsTGGA (p.Val666=) c.4118_4121delinsTGGA (p.Val1373=) c.3389_3392delinsTGGA (p.Val1130=) c.2549_2552delinsTGGA (p.Val850=) | |
| 16 | g.1510970_1510984del | CA2631006489 | IFT140 | c.4353_4367del (p.Asp1451_Val1455del) c.1935_1949del (p.Asp645_Val649del) c.*2791_*2805del (n.*2791_*2805del) n.4177_4191del c.1986_2000del (p.Asp662_Val666del) c.4107_4121del (p.Asp1369_Val1373del) c.3378_3392del (p.Asp1126_Val1130del) c.2538_2552del (p.Asp846_Val850del) | gnomAD v4 |
| 16 | g.1510969_1510989del | CA7812771 | IFT140 | c.4347_4367del (p.Leu1450_Glu1456del) c.1929_1949del (p.Leu644_Glu650del) c.*2785_*2805del (n.*2785_*2805del) n.4171_4191del c.1980_2000del (p.Leu661_Glu667del) c.4101_4121del (p.Leu1368_Glu1374del) c.3372_3392del (p.Leu1125_Glu1131del) c.2532_2552del (p.Leu845_Glu851del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510967C>A | CA394222220 | IFT140 | c.4366G>T (p.Glu1456Ter) c.1948G>T (p.Glu650Ter) c.*2804G>T (n.*2804G>T) n.4190G>T c.1999G>T (p.Glu667Ter) c.4120G>T (p.Glu1374Ter) c.3391G>T (p.Glu1131Ter) c.2551G>T (p.Glu851Ter) | |
| 16 | g.1510967C= | CA2201718349 | IFT140 | c.4366G= (p.Glu1456=) c.1948G= (p.Glu650=) c.*2804G= (n.*2804G=) n.4190G= c.1999G= (p.Glu667=) c.4120G= (p.Glu1374=) c.3391G= (p.Glu1131=) c.2551G= (p.Glu851=) | |
| 16 | g.1510967C>G | CA394222221 | IFT140 | c.4366G>C (p.Glu1456Gln) c.1948G>C (p.Glu650Gln) c.*2804G>C (n.*2804G>C) n.4190G>C c.1999G>C (p.Glu667Gln) c.4120G>C (p.Glu1374Gln) c.3391G>C (p.Glu1131Gln) c.2551G>C (p.Glu851Gln) | |
| 16 | g.1510967C>T | CA394222222 | IFT140 | c.4366G>A (p.Glu1456Lys) c.1948G>A (p.Glu650Lys) c.*2804G>A (n.*2804G>A) n.4190G>A c.1999G>A (p.Glu667Lys) c.4120G>A (p.Glu1374Lys) c.3391G>A (p.Glu1131Lys) c.2551G>A (p.Glu851Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510972_1510974del | CA912995420 | IFT140 | c.4364_4366del (p.Val1455del) c.1946_1948del (p.Val649del) c.*2802_*2804del (n.*2802_*2804del) n.4188_4190del c.1997_1999del (p.Val666del) c.4118_4120del (p.Val1373del) c.3389_3391del (p.Val1130del) c.2549_2551del (p.Val850del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1510968C>A | CA493031340 | IFT140 | c.4365G>T (p.Val1455=) c.1947G>T (p.Val649=) c.*2803G>T (n.*2803G>T) n.4189G>T c.1998G>T (p.Val666=) c.4119G>T (p.Val1373=) c.3390G>T (p.Val1130=) c.2550G>T (p.Val850=) | |
| 16 | g.1510968C= | CA2201718350 | IFT140 | c.4365G= (p.Val1455=) c.1947G= (p.Val649=) c.*2803G= (n.*2803G=) n.4189G= c.1998G= (p.Val666=) c.4119G= (p.Val1373=) c.3390G= (p.Val1130=) c.2550G= (p.Val850=) | |
| 16 | g.1510968C>G | CA493031341 | IFT140 | c.4365G>C (p.Val1455=) c.1947G>C (p.Val649=) c.*2803G>C (n.*2803G>C) n.4189G>C c.1998G>C (p.Val666=) c.4119G>C (p.Val1373=) c.3390G>C (p.Val1130=) c.2550G>C (p.Val850=) | |
| 16 | g.1510968C>T | CA7812772 | IFT140 | c.4365G>A (p.Val1455=) c.1947G>A (p.Val649=) c.*2803G>A (n.*2803G>A) n.4189G>A c.1998G>A (p.Val666=) c.4119G>A (p.Val1373=) c.3390G>A (p.Val1130=) c.2550G>A (p.Val850=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510969A= | CA2201718351 | IFT140 | c.4364T= (p.Val1455=) c.1946T= (p.Val649=) c.*2802T= (n.*2802T=) n.4188T= c.1997T= (p.Val666=) c.4118T= (p.Val1373=) c.3389T= (p.Val1130=) c.2549T= (p.Val850=) | |
| 16 | g.1510969A>C | CA394222225 | IFT140 | c.4364T>G (p.Val1455Gly) c.1946T>G (p.Val649Gly) c.*2802T>G (n.*2802T>G) n.4188T>G c.1997T>G (p.Val666Gly) c.4118T>G (p.Val1373Gly) c.3389T>G (p.Val1130Gly) c.2549T>G (p.Val850Gly) | dbSNP |
| 16 | g.1510969A>G | CA394222224 | IFT140 | c.4364T>C (p.Val1455Ala) c.1946T>C (p.Val649Ala) c.*2802T>C (n.*2802T>C) n.4188T>C c.1997T>C (p.Val666Ala) c.4118T>C (p.Val1373Ala) c.3389T>C (p.Val1130Ala) c.2549T>C (p.Val850Ala) | |
| 16 | g.1510969A>T | CA394222223 | IFT140 | c.4364T>A (p.Val1455Glu) c.1946T>A (p.Val649Glu) c.*2802T>A (n.*2802T>A) n.4188T>A c.1997T>A (p.Val666Glu) c.4118T>A (p.Val1373Glu) c.3389T>A (p.Val1130Glu) c.2549T>A (p.Val850Glu) | |
| 16 | g.1510970C>A | CA394222226 | IFT140 | c.4363G>T (p.Val1455Leu) c.1945G>T (p.Val649Leu) c.*2801G>T (n.*2801G>T) n.4187G>T c.1996G>T (p.Val666Leu) c.4117G>T (p.Val1373Leu) c.3388G>T (p.Val1130Leu) c.2548G>T (p.Val850Leu) | gnomAD v4 |
| 16 | g.1510970C>G | CA394222227 | IFT140 | c.4363G>C (p.Val1455Leu) c.1945G>C (p.Val649Leu) c.*2801G>C (n.*2801G>C) n.4187G>C c.1996G>C (p.Val666Leu) c.4117G>C (p.Val1373Leu) c.3388G>C (p.Val1130Leu) c.2548G>C (p.Val850Leu) | |
| 16 | g.1510970C>T | CA394222228 | IFT140 | c.4363G>A (p.Val1455Met) c.1945G>A (p.Val649Met) c.*2801G>A (n.*2801G>A) n.4187G>A c.1996G>A (p.Val666Met) c.4117G>A (p.Val1373Met) c.3388G>A (p.Val1130Met) c.2548G>A (p.Val850Met) | gnomAD v4 |
| 16 | g.1510971C>A | CA7812773 | IFT140 | c.4362G>T (p.Val1454=) c.1944G>T (p.Val648=) c.*2800G>T (n.*2800G>T) n.4186G>T c.1995G>T (p.Val665=) c.4116G>T (p.Val1372=) c.3387G>T (p.Val1129=) c.2547G>T (p.Val849=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510971C= | CA2201718352 | IFT140 | c.4362G= (p.Val1454=) c.1944G= (p.Val648=) c.*2800G= (n.*2800G=) n.4186G= c.1995G= (p.Val665=) c.4116G= (p.Val1372=) c.3387G= (p.Val1129=) c.2547G= (p.Val849=) | |
| 16 | g.1510971C>G | CA493031342 | IFT140 | c.4362G>C (p.Val1454=) c.1944G>C (p.Val648=) c.*2800G>C (n.*2800G>C) n.4186G>C c.1995G>C (p.Val665=) c.4116G>C (p.Val1372=) c.3387G>C (p.Val1129=) c.2547G>C (p.Val849=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510971C>T | CA7812774 | IFT140 | c.4362G>A (p.Val1454=) c.1944G>A (p.Val648=) c.*2800G>A (n.*2800G>A) n.4186G>A c.1995G>A (p.Val665=) c.4116G>A (p.Val1372=) c.3387G>A (p.Val1129=) c.2547G>A (p.Val849=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1510972A>C | CA394222229 | IFT140 | c.4361T>G (p.Val1454Gly) c.1943T>G (p.Val648Gly) c.*2799T>G (n.*2799T>G) n.4185T>G c.1994T>G (p.Val665Gly) c.4115T>G (p.Val1372Gly) c.3386T>G (p.Val1129Gly) c.2546T>G (p.Val849Gly) | |
| 16 | g.1510972A>G | CA394222230 | IFT140 | c.4361T>C (p.Val1454Ala) c.1943T>C (p.Val648Ala) c.*2799T>C (n.*2799T>C) n.4185T>C c.1994T>C (p.Val665Ala) c.4115T>C (p.Val1372Ala) c.3386T>C (p.Val1129Ala) c.2546T>C (p.Val849Ala) | |
| 16 | g.1510972A>T | CA394222231 | IFT140 | c.4361T>A (p.Val1454Glu) c.1943T>A (p.Val648Glu) c.*2799T>A (n.*2799T>A) n.4185T>A c.1994T>A (p.Val665Glu) c.4115T>A (p.Val1372Glu) c.3386T>A (p.Val1129Glu) c.2546T>A (p.Val849Glu) | gnomAD v4 |
| 16 | g.1510973C>A | CA394222232 | IFT140 | c.4360G>T (p.Val1454Leu) c.1942G>T (p.Val648Leu) c.*2798G>T (n.*2798G>T) n.4184G>T c.1993G>T (p.Val665Leu) c.4114G>T (p.Val1372Leu) c.3385G>T (p.Val1129Leu) c.2545G>T (p.Val849Leu) | |
| 16 | g.1510973C>G | CA394222233 | IFT140 | c.4360G>C (p.Val1454Leu) c.1942G>C (p.Val648Leu) c.*2798G>C (n.*2798G>C) n.4184G>C c.1993G>C (p.Val665Leu) c.4114G>C (p.Val1372Leu) c.3385G>C (p.Val1129Leu) c.2545G>C (p.Val849Leu) | |
| 16 | g.1510973C>T | CA394222234 | IFT140 | c.4360G>A (p.Val1454Met) c.1942G>A (p.Val648Met) c.*2798G>A (n.*2798G>A) n.4184G>A c.1993G>A (p.Val665Met) c.4114G>A (p.Val1372Met) c.3385G>A (p.Val1129Met) c.2545G>A (p.Val849Met) | gnomAD v4 |
| 16 | g.1510977_1510979del | CA2631006490 | IFT140 | c.4358_4360del (p.Glu1453del) c.1940_1942del (p.Glu647del) c.*2796_*2798del (n.*2796_*2798del) n.4182_4184del c.1991_1993del (p.Glu664del) c.4112_4114del (p.Glu1371del) c.3383_3385del (p.Glu1128del) c.2543_2545del (p.Glu848del) | gnomAD v4 |
| 16 | g.1510974C>A | CA394222235 | IFT140 | c.4359G>T (p.Glu1453Asp) c.1941G>T (p.Glu647Asp) c.*2797G>T (n.*2797G>T) n.4183G>T c.1992G>T (p.Glu664Asp) c.4113G>T (p.Glu1371Asp) c.3384G>T (p.Glu1128Asp) c.2544G>T (p.Glu848Asp) | |
| 16 | g.1510974C= | CA2201718353 | IFT140 | c.4359G= (p.Glu1453=) c.1941G= (p.Glu647=) c.*2797G= (n.*2797G=) n.4183G= c.1992G= (p.Glu664=) c.4113G= (p.Glu1371=) c.3384G= (p.Glu1128=) c.2544G= (p.Glu848=) | |
| 16 | g.1510974C>G | CA394222236 | IFT140 | c.4359G>C (p.Glu1453Asp) c.1941G>C (p.Glu647Asp) c.*2797G>C (n.*2797G>C) n.4183G>C c.1992G>C (p.Glu664Asp) c.4113G>C (p.Glu1371Asp) c.3384G>C (p.Glu1128Asp) c.2544G>C (p.Glu848Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1510974C>T | CA493031344 | IFT140 | c.4359G>A (p.Glu1453=) c.1941G>A (p.Glu647=) c.*2797G>A (n.*2797G>A) n.4183G>A c.1992G>A (p.Glu664=) c.4113G>A (p.Glu1371=) c.3384G>A (p.Glu1128=) c.2544G>A (p.Glu848=) | gnomAD v4 |
| 16 | g.1510975T>A | CA394222237 | IFT140 | c.4358A>T (p.Glu1453Val) c.1940A>T (p.Glu647Val) c.*2796A>T (n.*2796A>T) n.4182A>T c.1991A>T (p.Glu664Val) c.4112A>T (p.Glu1371Val) c.3383A>T (p.Glu1128Val) c.2543A>T (p.Glu848Val) | gnomAD v4 |
| 16 | g.1510975T>C | CA394222238 | IFT140 | c.4358A>G (p.Glu1453Gly) c.1940A>G (p.Glu647Gly) c.*2796A>G (n.*2796A>G) n.4182A>G c.1991A>G (p.Glu664Gly) c.4112A>G (p.Glu1371Gly) c.3383A>G (p.Glu1128Gly) c.2543A>G (p.Glu848Gly) | |
| 16 | g.1510975T>G | CA276668140 | IFT140 | c.4358A>C (p.Glu1453Ala) c.1940A>C (p.Glu647Ala) c.*2796A>C (n.*2796A>C) n.4182A>C c.1991A>C (p.Glu664Ala) c.4112A>C (p.Glu1371Ala) c.3383A>C (p.Glu1128Ala) c.2543A>C (p.Glu848Ala) | dbSNP gnomAD v2 |
| 16 | g.1510975T= | CA2201718354 | IFT140 | c.4358A= (p.Glu1453=) c.1940A= (p.Glu647=) c.*2796A= (n.*2796A=) n.4182A= c.1991A= (p.Glu664=) c.4112A= (p.Glu1371=) c.3383A= (p.Glu1128=) c.2543A= (p.Glu848=) | |
| 16 | g.1510976C>A | CA394222239 | IFT140 | c.4357G>T (p.Glu1453Ter) c.1939G>T (p.Glu647Ter) c.*2795G>T (n.*2795G>T) n.4181G>T c.1990G>T (p.Glu664Ter) c.4111G>T (p.Glu1371Ter) c.3382G>T (p.Glu1128Ter) c.2542G>T (p.Glu848Ter) | |
| 16 | g.1510976C>G | CA394222240 | IFT140 | c.4357G>C (p.Glu1453Gln) c.1939G>C (p.Glu647Gln) c.*2795G>C (n.*2795G>C) n.4181G>C c.1990G>C (p.Glu664Gln) c.4111G>C (p.Glu1371Gln) c.3382G>C (p.Glu1128Gln) c.2542G>C (p.Glu848Gln) | |
| 16 | g.1510976C>T | CA394222241 | IFT140 | c.4357G>A (p.Glu1453Lys) c.1939G>A (p.Glu647Lys) c.*2795G>A (n.*2795G>A) n.4181G>A c.1990G>A (p.Glu664Lys) c.4111G>A (p.Glu1371Lys) c.3382G>A (p.Glu1128Lys) c.2542G>A (p.Glu848Lys) | |
| 16 | g.1510977C>A | CA394222242 | IFT140 | c.4356G>T (p.Glu1452Asp) c.1938G>T (p.Glu646Asp) c.*2794G>T (n.*2794G>T) n.4180G>T c.1989G>T (p.Glu663Asp) c.4110G>T (p.Glu1370Asp) c.3381G>T (p.Glu1127Asp) c.2541G>T (p.Glu847Asp) | |
| 16 | g.1510977C= | CA2201718355 | IFT140 | c.4356G= (p.Glu1452=) c.1938G= (p.Glu646=) c.*2794G= (n.*2794G=) n.4180G= c.1989G= (p.Glu663=) c.4110G= (p.Glu1370=) c.3381G= (p.Glu1127=) c.2541G= (p.Glu847=) | |
| 16 | g.1510977C>G | CA394222243 | IFT140 | c.4356G>C (p.Glu1452Asp) c.1938G>C (p.Glu646Asp) c.*2794G>C (n.*2794G>C) n.4180G>C c.1989G>C (p.Glu663Asp) c.4110G>C (p.Glu1370Asp) c.3381G>C (p.Glu1127Asp) c.2541G>C (p.Glu847Asp) | |
| 16 | g.1510977C>T | CA493031348 | IFT140 | c.4356G>A (p.Glu1452=) c.1938G>A (p.Glu646=) c.*2794G>A (n.*2794G>A) n.4180G>A c.1989G>A (p.Glu663=) c.4110G>A (p.Glu1370=) c.3381G>A (p.Glu1127=) c.2541G>A (p.Glu847=) | dbSNP |
| 16 | g.1510978T>A | CA394222244 | IFT140 | c.4355A>T (p.Glu1452Val) c.1937A>T (p.Glu646Val) c.*2793A>T (n.*2793A>T) n.4179A>T c.1988A>T (p.Glu663Val) c.4109A>T (p.Glu1370Val) c.3380A>T (p.Glu1127Val) c.2540A>T (p.Glu847Val) | |
| 16 | g.1510978T>C | CA394222245 | IFT140 | c.4355A>G (p.Glu1452Gly) c.1937A>G (p.Glu646Gly) c.*2793A>G (n.*2793A>G) n.4179A>G c.1988A>G (p.Glu663Gly) c.4109A>G (p.Glu1370Gly) c.3380A>G (p.Glu1127Gly) c.2540A>G (p.Glu847Gly) | |
| 16 | g.1510978T>G | CA394222246 | IFT140 | c.4355A>C (p.Glu1452Ala) c.1937A>C (p.Glu646Ala) c.*2793A>C (n.*2793A>C) n.4179A>C c.1988A>C (p.Glu663Ala) c.4109A>C (p.Glu1370Ala) c.3380A>C (p.Glu1127Ala) c.2540A>C (p.Glu847Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.1510978T= | CA2201718356 | IFT140 | c.4355A= (p.Glu1452=) c.1937A= (p.Glu646=) c.*2793A= (n.*2793A=) n.4179A= c.1988A= (p.Glu663=) c.4109A= (p.Glu1370=) c.3380A= (p.Glu1127=) c.2540A= (p.Glu847=) | |
| 16 | g.1510979C>A | CA394222247 | IFT140 | c.4354G>T (p.Glu1452Ter) c.1936G>T (p.Glu646Ter) c.*2792G>T (n.*2792G>T) n.4178G>T c.1987G>T (p.Glu663Ter) c.4108G>T (p.Glu1370Ter) c.3379G>T (p.Glu1127Ter) c.2539G>T (p.Glu847Ter) | gnomAD v4 |
| 16 | g.1510979C= | CA2201718357 | IFT140 | c.4354G= (p.Glu1452=) c.1936G= (p.Glu646=) c.*2792G= (n.*2792G=) n.4178G= c.1987G= (p.Glu663=) c.4108G= (p.Glu1370=) c.3379G= (p.Glu1127=) c.2539G= (p.Glu847=) | |
| 16 | g.1510979C>G | CA394222248 | IFT140 | c.4354G>C (p.Glu1452Gln) c.1936G>C (p.Glu646Gln) c.*2792G>C (n.*2792G>C) n.4178G>C c.1987G>C (p.Glu663Gln) c.4108G>C (p.Glu1370Gln) c.3379G>C (p.Glu1127Gln) c.2539G>C (p.Glu847Gln) | |
| 16 | g.1510979C>T | CA7812775 | IFT140 | c.4354G>A (p.Glu1452Lys) c.1936G>A (p.Glu646Lys) c.*2792G>A (n.*2792G>A) n.4178G>A c.1987G>A (p.Glu663Lys) c.4108G>A (p.Glu1370Lys) c.3379G>A (p.Glu1127Lys) c.2539G>A (p.Glu847Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510980G>A | CA7812776 | IFT140 | c.4353C>T (p.Asp1451=) c.1935C>T (p.Asp645=) c.*2791C>T (n.*2791C>T) n.4177C>T c.1986C>T (p.Asp662=) c.4107C>T (p.Asp1369=) c.3378C>T (p.Asp1126=) c.2538C>T (p.Asp846=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1510980G>C | CA394222250 | IFT140 | c.4353C>G (p.Asp1451Glu) c.1935C>G (p.Asp645Glu) c.*2791C>G (n.*2791C>G) n.4177C>G c.1986C>G (p.Asp662Glu) c.4107C>G (p.Asp1369Glu) c.3378C>G (p.Asp1126Glu) c.2538C>G (p.Asp846Glu) | |
| 16 | g.1510980G= | CA2201718358 | IFT140 | c.4353C= (p.Asp1451=) c.1935C= (p.Asp645=) c.*2791C= (n.*2791C=) n.4177C= c.1986C= (p.Asp662=) c.4107C= (p.Asp1369=) c.3378C= (p.Asp1126=) c.2538C= (p.Asp846=) | |
| 16 | g.1510980G>T | CA394222249 | IFT140 | c.4353C>A (p.Asp1451Glu) c.1935C>A (p.Asp645Glu) c.*2791C>A (n.*2791C>A) n.4177C>A c.1986C>A (p.Asp662Glu) c.4107C>A (p.Asp1369Glu) c.3378C>A (p.Asp1126Glu) c.2538C>A (p.Asp846Glu) | gnomAD v4 |
| 16 | g.1510981T>A | CA394222251 | IFT140 | c.4352A>T (p.Asp1451Val) c.1934A>T (p.Asp645Val) c.*2790A>T (n.*2790A>T) n.4176A>T c.1985A>T (p.Asp662Val) c.4106A>T (p.Asp1369Val) c.3377A>T (p.Asp1126Val) c.2537A>T (p.Asp846Val) | |
| 16 | g.1510981T>C | CA7812777 | IFT140 | c.4352A>G (p.Asp1451Gly) c.1934A>G (p.Asp645Gly) c.*2790A>G (n.*2790A>G) n.4176A>G c.1985A>G (p.Asp662Gly) c.4106A>G (p.Asp1369Gly) c.3377A>G (p.Asp1126Gly) c.2537A>G (p.Asp846Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.1510981T>G | CA394222252 | IFT140 | c.4352A>C (p.Asp1451Ala) c.1934A>C (p.Asp645Ala) c.*2790A>C (n.*2790A>C) n.4176A>C c.1985A>C (p.Asp662Ala) c.4106A>C (p.Asp1369Ala) c.3377A>C (p.Asp1126Ala) c.2537A>C (p.Asp846Ala) | |
| 16 | g.1510981T= | CA2201718359 | IFT140 | c.4352A= (p.Asp1451=) c.1934A= (p.Asp645=) c.*2790A= (n.*2790A=) n.4176A= c.1985A= (p.Asp662=) c.4106A= (p.Asp1369=) c.3377A= (p.Asp1126=) c.2537A= (p.Asp846=) | |
| 16 | g.1510982C>A | CA394222253 | IFT140 | c.4351G>T (p.Asp1451Tyr) c.1933G>T (p.Asp645Tyr) c.*2789G>T (n.*2789G>T) n.4175G>T c.1984G>T (p.Asp662Tyr) c.4105G>T (p.Asp1369Tyr) c.3376G>T (p.Asp1126Tyr) c.2536G>T (p.Asp846Tyr) | |
| 16 | g.1510982C= | CA2201718360 | IFT140 | c.4351G= (p.Asp1451=) c.1933G= (p.Asp645=) c.*2789G= (n.*2789G=) n.4175G= c.1984G= (p.Asp662=) c.4105G= (p.Asp1369=) c.3376G= (p.Asp1126=) c.2536G= (p.Asp846=) | |
| 16 | g.1510982C>G | CA394222254 | IFT140 | c.4351G>C (p.Asp1451His) c.1933G>C (p.Asp645His) c.*2789G>C (n.*2789G>C) n.4175G>C c.1984G>C (p.Asp662His) c.4105G>C (p.Asp1369His) c.3376G>C (p.Asp1126His) c.2536G>C (p.Asp846His) | dbSNP gnomAD v2 |
| 16 | g.1510982C>T | CA394222255 | IFT140 | c.4351G>A (p.Asp1451Asn) c.1933G>A (p.Asp645Asn) c.*2789G>A (n.*2789G>A) n.4175G>A c.1984G>A (p.Asp662Asn) c.4105G>A (p.Asp1369Asn) c.3376G>A (p.Asp1126Asn) c.2536G>A (p.Asp846Asn) | |
| 16 | g.1510983C>A | CA493031351 | IFT140 | c.4350G>T (p.Leu1450=) c.1932G>T (p.Leu644=) c.*2788G>T (n.*2788G>T) n.4174G>T c.1983G>T (p.Leu661=) c.4104G>T (p.Leu1368=) c.3375G>T (p.Leu1125=) c.2535G>T (p.Leu845=) | |
| 16 | g.1510983C= | CA2201718361 | IFT140 | c.4350G= (p.Leu1450=) c.1932G= (p.Leu644=) c.*2788G= (n.*2788G=) n.4174G= c.1983G= (p.Leu661=) c.4104G= (p.Leu1368=) c.3375G= (p.Leu1125=) c.2535G= (p.Leu845=) | |
| 16 | g.1510983C>G | CA493031352 | IFT140 | c.4350G>C (p.Leu1450=) c.1932G>C (p.Leu644=) c.*2788G>C (n.*2788G>C) n.4174G>C c.1983G>C (p.Leu661=) c.4104G>C (p.Leu1368=) c.3375G>C (p.Leu1125=) c.2535G>C (p.Leu845=) | |
| 16 | g.1510983C>T | CA7812778 | IFT140 | c.4350G>A (p.Leu1450=) c.1932G>A (p.Leu644=) c.*2788G>A (n.*2788G>A) n.4174G>A c.1983G>A (p.Leu661=) c.4104G>A (p.Leu1368=) c.3375G>A (p.Leu1125=) c.2535G>A (p.Leu845=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510984A>C | CA394222256 | IFT140 | c.4349T>G (p.Leu1450Arg) c.1931T>G (p.Leu644Arg) c.*2787T>G (n.*2787T>G) n.4173T>G c.1982T>G (p.Leu661Arg) c.4103T>G (p.Leu1368Arg) c.3374T>G (p.Leu1125Arg) c.2534T>G (p.Leu845Arg) | |
| 16 | g.1510984A>G | CA394222257 | IFT140 | c.4349T>C (p.Leu1450Pro) c.1931T>C (p.Leu644Pro) c.*2787T>C (n.*2787T>C) n.4173T>C c.1982T>C (p.Leu661Pro) c.4103T>C (p.Leu1368Pro) c.3374T>C (p.Leu1125Pro) c.2534T>C (p.Leu845Pro) | |
| 16 | g.1510984A>T | CA394222258 | IFT140 | c.4349T>A (p.Leu1450Gln) c.1931T>A (p.Leu644Gln) c.*2787T>A (n.*2787T>A) n.4173T>A c.1982T>A (p.Leu661Gln) c.4103T>A (p.Leu1368Gln) c.3374T>A (p.Leu1125Gln) c.2534T>A (p.Leu845Gln) | |
| 16 | g.1510985G>A | CA493031353 | IFT140 | c.4348C>T (p.Leu1450=) c.1930C>T (p.Leu644=) c.*2786C>T (n.*2786C>T) n.4172C>T c.1981C>T (p.Leu661=) c.4102C>T (p.Leu1368=) c.3373C>T (p.Leu1125=) c.2533C>T (p.Leu845=) | dbSNP gnomAD v4 |
| 16 | g.1510985G>C | CA394222259 | IFT140 | c.4348C>G (p.Leu1450Val) c.1930C>G (p.Leu644Val) c.*2786C>G (n.*2786C>G) n.4172C>G c.1981C>G (p.Leu661Val) c.4102C>G (p.Leu1368Val) c.3373C>G (p.Leu1125Val) c.2533C>G (p.Leu845Val) | |
| 16 | g.1510985G= | CA2201718362 | IFT140 | c.4348C= (p.Leu1450=) c.1930C= (p.Leu644=) c.*2786C= (n.*2786C=) n.4172C= c.1981C= (p.Leu661=) c.4102C= (p.Leu1368=) c.3373C= (p.Leu1125=) c.2533C= (p.Leu845=) | |
| 16 | g.1510985G>T | CA394222260 | IFT140 | c.4348C>A (p.Leu1450Met) c.1930C>A (p.Leu644Met) c.*2786C>A (n.*2786C>A) n.4172C>A c.1981C>A (p.Leu661Met) c.4102C>A (p.Leu1368Met) c.3373C>A (p.Leu1125Met) c.2533C>A (p.Leu845Met) | |
| 16 | g.1510986C>A | CA394222262 | IFT140 | c.4347G>T (p.Glu1449Asp) c.1929G>T (p.Glu643Asp) c.*2785G>T (n.*2785G>T) n.4171G>T c.1980G>T (p.Glu660Asp) c.4101G>T (p.Glu1367Asp) c.3372G>T (p.Glu1124Asp) c.2532G>T (p.Glu844Asp) | |
| 16 | g.1510986C>G | CA394222261 | IFT140 | c.4347G>C (p.Glu1449Asp) c.1929G>C (p.Glu643Asp) c.*2785G>C (n.*2785G>C) n.4171G>C c.1980G>C (p.Glu660Asp) c.4101G>C (p.Glu1367Asp) c.3372G>C (p.Glu1124Asp) c.2532G>C (p.Glu844Asp) | |
| 16 | g.1510986C>T | CA493031357 | IFT140 | c.4347G>A (p.Glu1449=) c.1929G>A (p.Glu643=) c.*2785G>A (n.*2785G>A) n.4171G>A c.1980G>A (p.Glu660=) c.4101G>A (p.Glu1367=) c.3372G>A (p.Glu1124=) c.2532G>A (p.Glu844=) | |
| 16 | g.1510987T>A | CA394222263 | IFT140 | c.4346A>T (p.Glu1449Val) c.1928A>T (p.Glu643Val) c.*2784A>T (n.*2784A>T) n.4170A>T c.1979A>T (p.Glu660Val) c.4100A>T (p.Glu1367Val) c.3371A>T (p.Glu1124Val) c.2531A>T (p.Glu844Val) | |
| 16 | g.1510987T>C | CA394222264 | IFT140 | c.4346A>G (p.Glu1449Gly) c.1928A>G (p.Glu643Gly) c.*2784A>G (n.*2784A>G) n.4170A>G c.1979A>G (p.Glu660Gly) c.4100A>G (p.Glu1367Gly) c.3371A>G (p.Glu1124Gly) c.2531A>G (p.Glu844Gly) | |
| 16 | g.1510987T>G | CA394222265 | IFT140 | c.4346A>C (p.Glu1449Ala) c.1928A>C (p.Glu643Ala) c.*2784A>C (n.*2784A>C) n.4170A>C c.1979A>C (p.Glu660Ala) c.4100A>C (p.Glu1367Ala) c.3371A>C (p.Glu1124Ala) c.2531A>C (p.Glu844Ala) | |
| 16 | g.1510988C>A | CA394222266 | IFT140 | c.4345G>T (p.Glu1449Ter) c.1927G>T (p.Glu643Ter) c.*2783G>T (n.*2783G>T) n.4169G>T c.1978G>T (p.Glu660Ter) c.4099G>T (p.Glu1367Ter) c.3370G>T (p.Glu1124Ter) c.2530G>T (p.Glu844Ter) | |
| 16 | g.1510988C= | CA2201718363 | IFT140 | c.4345G= (p.Glu1449=) c.1927G= (p.Glu643=) c.*2783G= (n.*2783G=) n.4169G= c.1978G= (p.Glu660=) c.4099G= (p.Glu1367=) c.3370G= (p.Glu1124=) c.2530G= (p.Glu844=) | |
| 16 | g.1510988C>G | CA394222267 | IFT140 | c.4345G>C (p.Glu1449Gln) c.1927G>C (p.Glu643Gln) c.*2783G>C (n.*2783G>C) n.4169G>C c.1978G>C (p.Glu660Gln) c.4099G>C (p.Glu1367Gln) c.3370G>C (p.Glu1124Gln) c.2530G>C (p.Glu844Gln) | |
| 16 | g.1510988C>T | CA394222268 | IFT140 | c.4345G>A (p.Glu1449Lys) c.1927G>A (p.Glu643Lys) c.*2783G>A (n.*2783G>A) n.4169G>A c.1978G>A (p.Glu660Lys) c.4099G>A (p.Glu1367Lys) c.3370G>A (p.Glu1124Lys) c.2530G>A (p.Glu844Lys) | dbSNP gnomAD v4 |
| 16 | g.1510989C>A | CA394222269 | IFT140 | c.4344G>T (p.Arg1448Ser) c.1926G>T (p.Arg642Ser) c.*2782G>T (n.*2782G>T) n.4168G>T c.1977G>T (p.Arg659Ser) c.4098G>T (p.Arg1366Ser) c.3369G>T (p.Arg1123Ser) c.2529G>T (p.Arg843Ser) | |
| 16 | g.1510989C>G | CA394222270 | IFT140 | c.4344G>C (p.Arg1448Ser) c.1926G>C (p.Arg642Ser) c.*2782G>C (n.*2782G>C) n.4168G>C c.1977G>C (p.Arg659Ser) c.4098G>C (p.Arg1366Ser) c.3369G>C (p.Arg1123Ser) c.2529G>C (p.Arg843Ser) | |
| 16 | g.1510989C>T | CA493031362 | IFT140 | c.4344G>A (p.Arg1448=) c.1926G>A (p.Arg642=) c.*2782G>A (n.*2782G>A) n.4168G>A c.1977G>A (p.Arg659=) c.4098G>A (p.Arg1366=) c.3369G>A (p.Arg1123=) c.2529G>A (p.Arg843=) | |
| 16 | g.1510990C>A | CA394222271 | IFT140 | c.4343G>T (p.Arg1448Met) c.1925G>T (p.Arg642Met) c.*2781G>T (n.*2781G>T) n.4167G>T c.1976G>T (p.Arg659Met) c.4097G>T (p.Arg1366Met) c.3368G>T (p.Arg1123Met) c.2528G>T (p.Arg843Met) | |
| 16 | g.1510990C>G | CA394222272 | IFT140 | c.4343G>C (p.Arg1448Thr) c.1925G>C (p.Arg642Thr) c.*2781G>C (n.*2781G>C) n.4167G>C c.1976G>C (p.Arg659Thr) c.4097G>C (p.Arg1366Thr) c.3368G>C (p.Arg1123Thr) c.2528G>C (p.Arg843Thr) | |
| 16 | g.1510990C>T | CA394222273 | IFT140 | c.4343G>A (p.Arg1448Lys) c.1925G>A (p.Arg642Lys) c.*2781G>A (n.*2781G>A) n.4167G>A c.1976G>A (p.Arg659Lys) c.4097G>A (p.Arg1366Lys) c.3368G>A (p.Arg1123Lys) c.2528G>A (p.Arg843Lys) | |
| 16 | g.1510991T>A | CA394222274 | IFT140 | c.4342A>T (p.Arg1448Trp) c.1924A>T (p.Arg642Trp) c.*2780A>T (n.*2780A>T) n.4166A>T c.1975A>T (p.Arg659Trp) c.4096A>T (p.Arg1366Trp) c.3367A>T (p.Arg1123Trp) c.2527A>T (p.Arg843Trp) | |
| 16 | g.1510991T>C | CA394222275 | IFT140 | c.4342A>G (p.Arg1448Gly) c.1924A>G (p.Arg642Gly) c.*2780A>G (n.*2780A>G) n.4166A>G c.1975A>G (p.Arg659Gly) c.4096A>G (p.Arg1366Gly) c.3367A>G (p.Arg1123Gly) c.2527A>G (p.Arg843Gly) | |
| 16 | g.1510991T>G | CA493031366 | IFT140 | c.4342A>C (p.Arg1448=) c.1924A>C (p.Arg642=) c.*2780A>C (n.*2780A>C) n.4166A>C c.1975A>C (p.Arg659=) c.4096A>C (p.Arg1366=) c.3367A>C (p.Arg1123=) c.2527A>C (p.Arg843=) | |
| 16 | g.1510991_1510992delinsTG | CA2201718364 | IFT140 | c.4341_4342delinsCA (p.Ala1447=) c.1923_1924delinsCA (p.Ala641=) c.*2779_*2780delinsCA (n.*2779_*2780delinsCA) n.4165_4166delinsCA c.1974_1975delinsCA (p.Ala658=) c.4095_4096delinsCA (p.Ala1365=) c.3366_3367delinsCA (p.Ala1122=) c.2526_2527delinsCA (p.Ala842=) | |
| 16 | g.1510992G>A | CA493031372 | IFT140 | c.4341C>T (p.Ala1447=) c.1923C>T (p.Ala641=) c.*2779C>T (n.*2779C>T) n.4165C>T c.1974C>T (p.Ala658=) c.4095C>T (p.Ala1365=) c.3366C>T (p.Ala1122=) c.2526C>T (p.Ala842=) | gnomAD v4 |
| 16 | g.1510992G>C | CA493031371 | IFT140 | c.4341C>G (p.Ala1447=) c.1923C>G (p.Ala641=) c.*2779C>G (n.*2779C>G) n.4165C>G c.1974C>G (p.Ala658=) c.4095C>G (p.Ala1365=) c.3366C>G (p.Ala1122=) c.2526C>G (p.Ala842=) | |
| 16 | g.1510992G>T | CA493031369 | IFT140 | c.4341C>A (p.Ala1447=) c.1923C>A (p.Ala641=) c.*2779C>A (n.*2779C>A) n.4165C>A c.1974C>A (p.Ala658=) c.4095C>A (p.Ala1365=) c.3366C>A (p.Ala1122=) c.2526C>A (p.Ala842=) | |
| 16 | g.1510993del | CA620700848 | IFT140 | c.4341del (p.Arg1448GlyfsTer?) c.1923del (p.Arg642GlyfsTer?) c.*2779del (n.*2779del) n.4165del c.1974del (p.Arg659GlyfsTer?) c.4095del (p.Arg1366GlyfsTer?) c.3366del (p.Arg1123GlyfsTer?) c.2526del (p.Arg843GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510993G>A | CA394222278 | IFT140 | c.4340C>T (p.Ala1447Val) c.1922C>T (p.Ala641Val) c.*2778C>T (n.*2778C>T) n.4164C>T c.1973C>T (p.Ala658Val) c.4094C>T (p.Ala1365Val) c.3365C>T (p.Ala1122Val) c.2525C>T (p.Ala842Val) | |
| 16 | g.1510993G>C | CA394222277 | IFT140 | c.4340C>G (p.Ala1447Gly) c.1922C>G (p.Ala641Gly) c.*2778C>G (n.*2778C>G) n.4164C>G c.1973C>G (p.Ala658Gly) c.4094C>G (p.Ala1365Gly) c.3365C>G (p.Ala1122Gly) c.2525C>G (p.Ala842Gly) | |
| 16 | g.1510993G>T | CA394222276 | IFT140 | c.4340C>A (p.Ala1447Asp) c.1922C>A (p.Ala641Asp) c.*2778C>A (n.*2778C>A) n.4164C>A c.1973C>A (p.Ala658Asp) c.4094C>A (p.Ala1365Asp) c.3365C>A (p.Ala1122Asp) c.2525C>A (p.Ala842Asp) | |
| 16 | g.1510994C>A | CA394222279 | IFT140 | c.4339G>T (p.Ala1447Ser) c.1921G>T (p.Ala641Ser) c.*2777G>T (n.*2777G>T) n.4163G>T c.1972G>T (p.Ala658Ser) c.4093G>T (p.Ala1365Ser) c.3364G>T (p.Ala1122Ser) c.2524G>T (p.Ala842Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.1510994C= | CA2201718365 | IFT140 | c.4339G= (p.Ala1447=) c.1921G= (p.Ala641=) c.*2777G= (n.*2777G=) n.4163G= c.1972G= (p.Ala658=) c.4093G= (p.Ala1365=) c.3364G= (p.Ala1122=) c.2524G= (p.Ala842=) | |
| 16 | g.1510994C>G | CA394222280 | IFT140 | c.4339G>C (p.Ala1447Pro) c.1921G>C (p.Ala641Pro) c.*2777G>C (n.*2777G>C) n.4163G>C c.1972G>C (p.Ala658Pro) c.4093G>C (p.Ala1365Pro) c.3364G>C (p.Ala1122Pro) c.2524G>C (p.Ala842Pro) | |
| 16 | g.1510994C>T | CA7812779 | IFT140 | c.4339G>A (p.Ala1447Thr) c.1921G>A (p.Ala641Thr) c.*2777G>A (n.*2777G>A) n.4163G>A c.1972G>A (p.Ala658Thr) c.4093G>A (p.Ala1365Thr) c.3364G>A (p.Ala1122Thr) c.2524G>A (p.Ala842Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510995G>A | CA7812780 | IFT140 | c.4338C>T (p.Asp1446=) c.1920C>T (p.Asp640=) c.*2776C>T (n.*2776C>T) n.4162C>T c.1971C>T (p.Asp657=) c.4092C>T (p.Asp1364=) c.3363C>T (p.Asp1121=) c.2523C>T (p.Asp841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1510995G>C | CA394222281 | IFT140 | c.4338C>G (p.Asp1446Glu) c.1920C>G (p.Asp640Glu) c.*2776C>G (n.*2776C>G) n.4162C>G c.1971C>G (p.Asp657Glu) c.4092C>G (p.Asp1364Glu) c.3363C>G (p.Asp1121Glu) c.2523C>G (p.Asp841Glu) | |
| 16 | g.1510995G= | CA2201718366 | IFT140 | c.4338C= (p.Asp1446=) c.1920C= (p.Asp640=) c.*2776C= (n.*2776C=) n.4162C= c.1971C= (p.Asp657=) c.4092C= (p.Asp1364=) c.3363C= (p.Asp1121=) c.2523C= (p.Asp841=) | |
| 16 | g.1510995G>T | CA394222282 | IFT140 | c.4338C>A (p.Asp1446Glu) c.1920C>A (p.Asp640Glu) c.*2776C>A (n.*2776C>A) n.4162C>A c.1971C>A (p.Asp657Glu) c.4092C>A (p.Asp1364Glu) c.3363C>A (p.Asp1121Glu) c.2523C>A (p.Asp841Glu) | |
| 16 | g.1510996T>A | CA394222283 | IFT140 | c.4337A>T (p.Asp1446Val) c.1919A>T (p.Asp640Val) c.*2775A>T (n.*2775A>T) n.4161A>T c.1970A>T (p.Asp657Val) c.4091A>T (p.Asp1364Val) c.3362A>T (p.Asp1121Val) c.2522A>T (p.Asp841Val) | |
| 16 | g.1510996T>C | CA394222284 | IFT140 | c.4337A>G (p.Asp1446Gly) c.1919A>G (p.Asp640Gly) c.*2775A>G (n.*2775A>G) n.4161A>G c.1970A>G (p.Asp657Gly) c.4091A>G (p.Asp1364Gly) c.3362A>G (p.Asp1121Gly) c.2522A>G (p.Asp841Gly) | |
| 16 | g.1510996T>G | CA394222285 | IFT140 | c.4337A>C (p.Asp1446Ala) c.1919A>C (p.Asp640Ala) c.*2775A>C (n.*2775A>C) n.4161A>C c.1970A>C (p.Asp657Ala) c.4091A>C (p.Asp1364Ala) c.3362A>C (p.Asp1121Ala) c.2522A>C (p.Asp841Ala) | |
| 16 | g.1510996_1510997insTGGGGATCGCGCCCCAGCC | CA2805557712 | IFT140 | c.4336_4337insGGCTGGGGCGCGATCCCCA (p.Asp1446GlyfsTer21) c.1918_1919insGGCTGGGGCGCGATCCCCA (p.Asp640GlyfsTer21) c.*2774_*2775insGGCTGGGGCGCGATCCCCA (n.*2774_*2775insGGCTGGGGCGCGATCCCCA) n.4160_4161insGGCTGGGGCGCGATCCCCA c.1969_1970insGGCTGGGGCGCGATCCCCA (p.Asp657GlyfsTer21) c.4090_4091insGGCTGGGGCGCGATCCCCA (p.Asp1364GlyfsTer21) c.3361_3362insGGCTGGGGCGCGATCCCCA (p.Asp1121GlyfsTer21) c.2521_2522insGGCTGGGGCGCGATCCCCA (p.Asp841GlyfsTer21) | |
| 16 | g.1510997C>A | CA394222286 | IFT140 | c.4336G>T (p.Asp1446Tyr) c.1918G>T (p.Asp640Tyr) c.*2774G>T (n.*2774G>T) n.4160G>T c.1969G>T (p.Asp657Tyr) c.4090G>T (p.Asp1364Tyr) c.3361G>T (p.Asp1121Tyr) c.2521G>T (p.Asp841Tyr) | |
| 16 | g.1510997C= | CA2201718367 | IFT140 | c.4336G= (p.Asp1446=) c.1918G= (p.Asp640=) c.*2774G= (n.*2774G=) n.4160G= c.1969G= (p.Asp657=) c.4090G= (p.Asp1364=) c.3361G= (p.Asp1121=) c.2521G= (p.Asp841=) | |
| 16 | g.1510997C>G | CA394222287 | IFT140 | c.4336G>C (p.Asp1446His) c.1918G>C (p.Asp640His) c.*2774G>C (n.*2774G>C) n.4160G>C c.1969G>C (p.Asp657His) c.4090G>C (p.Asp1364His) c.3361G>C (p.Asp1121His) c.2521G>C (p.Asp841His) | |
| 16 | g.1510997C>T | CA7812781 | IFT140 | c.4336G>A (p.Asp1446Asn) c.1918G>A (p.Asp640Asn) c.*2774G>A (n.*2774G>A) n.4160G>A c.1969G>A (p.Asp657Asn) c.4090G>A (p.Asp1364Asn) c.3361G>A (p.Asp1121Asn) c.2521G>A (p.Asp841Asn) | dbSNP ExAC gnomAD v4 |
| 16 | g.1510998C>A | CA394222288 | IFT140 | c.4335G>T (p.Glu1445Asp) c.1917G>T (p.Glu639Asp) c.*2773G>T (n.*2773G>T) n.4159G>T c.1968G>T (p.Glu656Asp) c.4089G>T (p.Glu1363Asp) c.3360G>T (p.Glu1120Asp) c.2520G>T (p.Glu840Asp) | |
| 16 | g.1510998C>G | CA394222289 | IFT140 | c.4335G>C (p.Glu1445Asp) c.1917G>C (p.Glu639Asp) c.*2773G>C (n.*2773G>C) n.4159G>C c.1968G>C (p.Glu656Asp) c.4089G>C (p.Glu1363Asp) c.3360G>C (p.Glu1120Asp) c.2520G>C (p.Glu840Asp) | |
| 16 | g.1510998C>T | CA493031379 | IFT140 | c.4335G>A (p.Glu1445=) c.1917G>A (p.Glu639=) c.*2773G>A (n.*2773G>A) n.4159G>A c.1968G>A (p.Glu656=) c.4089G>A (p.Glu1363=) c.3360G>A (p.Glu1120=) c.2520G>A (p.Glu840=) | dbSNP gnomAD v4 |
| 16 | g.1510999T>A | CA394222291 | IFT140 | c.4334A>T (p.Glu1445Val) c.1916A>T (p.Glu639Val) c.*2772A>T (n.*2772A>T) n.4158A>T c.1967A>T (p.Glu656Val) c.4088A>T (p.Glu1363Val) c.3359A>T (p.Glu1120Val) c.2519A>T (p.Glu840Val) | |
| 16 | g.1510999T>C | CA394222292 | IFT140 | c.4334A>G (p.Glu1445Gly) c.1916A>G (p.Glu639Gly) c.*2772A>G (n.*2772A>G) n.4158A>G c.1967A>G (p.Glu656Gly) c.4088A>G (p.Glu1363Gly) c.3359A>G (p.Glu1120Gly) c.2519A>G (p.Glu840Gly) | |
| 16 | g.1510999T>G | CA394222290 | IFT140 | c.4334A>C (p.Glu1445Ala) c.1916A>C (p.Glu639Ala) c.*2772A>C (n.*2772A>C) n.4158A>C c.1967A>C (p.Glu656Ala) c.4088A>C (p.Glu1363Ala) c.3359A>C (p.Glu1120Ala) c.2519A>C (p.Glu840Ala) | |
| 16 | g.1510999_1511000insGCCCGTCGTGGCCGCCGGCGCCCTCCTGACCG | CA2805557714 | IFT140 | c.4333_4334insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu1445AlafsTer?) c.1915_1916insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu639AlafsTer?) c.*2771_*2772insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (n.*2771_*2772insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC) n.4157_4158insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC c.1966_1967insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu656AlafsTer?) c.4087_4088insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu1363AlafsTer?) c.3358_3359insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu1120AlafsTer?) c.2518_2519insCGGTCAGGAGGGCGCCGGCGGCCACGACGGGC (p.Glu840AlafsTer?) | |
| 16 | g.1511000C>A | CA7812782 | IFT140 | c.4333G>T (p.Glu1445Ter) c.1915G>T (p.Glu639Ter) c.*2771G>T (n.*2771G>T) n.4157G>T c.1966G>T (p.Glu656Ter) c.4087G>T (p.Glu1363Ter) c.3358G>T (p.Glu1120Ter) c.2518G>T (p.Glu840Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.1511000C= | CA2201718368 | IFT140 | c.4333G= (p.Glu1445=) c.1915G= (p.Glu639=) c.*2771G= (n.*2771G=) n.4157G= c.1966G= (p.Glu656=) c.4087G= (p.Glu1363=) c.3358G= (p.Glu1120=) c.2518G= (p.Glu840=) | |
| 16 | g.1511000C>G | CA394222293 | IFT140 | c.4333G>C (p.Glu1445Gln) c.1915G>C (p.Glu639Gln) c.*2771G>C (n.*2771G>C) n.4157G>C c.1966G>C (p.Glu656Gln) c.4087G>C (p.Glu1363Gln) c.3358G>C (p.Glu1120Gln) c.2518G>C (p.Glu840Gln) | |
| 16 | g.1511000C>T | CA394222294 | IFT140 | c.4333G>A (p.Glu1445Lys) c.1915G>A (p.Glu639Lys) c.*2771G>A (n.*2771G>A) n.4157G>A c.1966G>A (p.Glu656Lys) c.4087G>A (p.Glu1363Lys) c.3358G>A (p.Glu1120Lys) c.2518G>A (p.Glu840Lys) | |
| 16 | g.1511001C>A | CA394222295 | IFT140 | c.4332G>T (p.Met1444Ile) c.1914G>T (p.Met638Ile) c.*2770G>T (n.*2770G>T) n.4156G>T c.1965G>T (p.Met655Ile) c.4086G>T (p.Met1362Ile) c.3357G>T (p.Met1119Ile) c.2517G>T (p.Met839Ile) | |
| 16 | g.1511001C>G | CA394222296 | IFT140 | c.4332G>C (p.Met1444Ile) c.1914G>C (p.Met638Ile) c.*2770G>C (n.*2770G>C) n.4156G>C c.1965G>C (p.Met655Ile) c.4086G>C (p.Met1362Ile) c.3357G>C (p.Met1119Ile) c.2517G>C (p.Met839Ile) | |
| 16 | g.1511001C>T | CA394222297 | IFT140 | c.4332G>A (p.Met1444Ile) c.1914G>A (p.Met638Ile) c.*2770G>A (n.*2770G>A) n.4156G>A c.1965G>A (p.Met655Ile) c.4086G>A (p.Met1362Ile) c.3357G>A (p.Met1119Ile) c.2517G>A (p.Met839Ile) | |
| 16 | g.1511002A>C | CA394222300 | IFT140 | c.4331T>G (p.Met1444Arg) c.1913T>G (p.Met638Arg) c.*2769T>G (n.*2769T>G) n.4155T>G c.1964T>G (p.Met655Arg) c.4085T>G (p.Met1362Arg) c.3356T>G (p.Met1119Arg) c.2516T>G (p.Met839Arg) | gnomAD v4 |
| 16 | g.1511002A>G | CA394222298 | IFT140 | c.4331T>C (p.Met1444Thr) c.1913T>C (p.Met638Thr) c.*2769T>C (n.*2769T>C) n.4155T>C c.1964T>C (p.Met655Thr) c.4085T>C (p.Met1362Thr) c.3356T>C (p.Met1119Thr) c.2516T>C (p.Met839Thr) | gnomAD v4 |
| 16 | g.1511002A>T | CA394222299 | IFT140 | c.4331T>A (p.Met1444Lys) c.1913T>A (p.Met638Lys) c.*2769T>A (n.*2769T>A) n.4155T>A c.1964T>A (p.Met655Lys) c.4085T>A (p.Met1362Lys) c.3356T>A (p.Met1119Lys) c.2516T>A (p.Met839Lys) | |
| 16 | g.1511003T>A | CA394222301 | IFT140 | c.4330A>T (p.Met1444Leu) c.1912A>T (p.Met638Leu) c.*2768A>T (n.*2768A>T) n.4154A>T c.1963A>T (p.Met655Leu) c.4084A>T (p.Met1362Leu) c.3355A>T (p.Met1119Leu) c.2515A>T (p.Met839Leu) | |
| 16 | g.1511003T>C | CA7812783 | IFT140 | c.4330A>G (p.Met1444Val) c.1912A>G (p.Met638Val) c.*2768A>G (n.*2768A>G) n.4154A>G c.1963A>G (p.Met655Val) c.4084A>G (p.Met1362Val) c.3355A>G (p.Met1119Val) c.2515A>G (p.Met839Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.1511003T>G | CA394222302 | IFT140 | c.4330A>C (p.Met1444Leu) c.1912A>C (p.Met638Leu) c.*2768A>C (n.*2768A>C) n.4154A>C c.1963A>C (p.Met655Leu) c.4084A>C (p.Met1362Leu) c.3355A>C (p.Met1119Leu) c.2515A>C (p.Met839Leu) | |
| 16 | g.1511003T= | CA2201718369 | IFT140 | c.4330A= (p.Met1444=) c.1912A= (p.Met638=) c.*2768A= (n.*2768A=) n.4154A= c.1963A= (p.Met655=) c.4084A= (p.Met1362=) c.3355A= (p.Met1119=) c.2515A= (p.Met839=) | |
| 16 | g.1511004G>A | CA493031381 | IFT140 | c.4329C>T (p.Ser1443=) c.1911C>T (p.Ser637=) c.*2767C>T (n.*2767C>T) n.4153C>T c.1962C>T (p.Ser654=) c.4083C>T (p.Ser1361=) c.3354C>T (p.Ser1118=) c.2514C>T (p.Ser838=) | |
| 16 | g.1511004G>C | CA394222303 | IFT140 | c.4329C>G (p.Ser1443Arg) c.1911C>G (p.Ser637Arg) c.*2767C>G (n.*2767C>G) n.4153C>G c.1962C>G (p.Ser654Arg) c.4083C>G (p.Ser1361Arg) c.3354C>G (p.Ser1118Arg) c.2514C>G (p.Ser838Arg) | |
| 16 | g.1511004G>T | CA394222304 | IFT140 | c.4329C>A (p.Ser1443Arg) c.1911C>A (p.Ser637Arg) c.*2767C>A (n.*2767C>A) n.4153C>A c.1962C>A (p.Ser654Arg) c.4083C>A (p.Ser1361Arg) c.3354C>A (p.Ser1118Arg) c.2514C>A (p.Ser838Arg) | |
| 16 | g.1511005C>A | CA394222305 | IFT140 | c.4328G>T (p.Ser1443Ile) c.1910G>T (p.Ser637Ile) c.*2766G>T (n.*2766G>T) n.4152G>T c.1961G>T (p.Ser654Ile) c.4082G>T (p.Ser1361Ile) c.3353G>T (p.Ser1118Ile) c.2513G>T (p.Ser838Ile) | |
| 16 | g.1511005C>G | CA394222307 | IFT140 | c.4328G>C (p.Ser1443Thr) c.1910G>C (p.Ser637Thr) c.*2766G>C (n.*2766G>C) n.4152G>C c.1961G>C (p.Ser654Thr) c.4082G>C (p.Ser1361Thr) c.3353G>C (p.Ser1118Thr) c.2513G>C (p.Ser838Thr) | |
| 16 | g.1511005C>T | CA394222306 | IFT140 | c.4328G>A (p.Ser1443Asn) c.1910G>A (p.Ser637Asn) c.*2766G>A (n.*2766G>A) n.4152G>A c.1961G>A (p.Ser654Asn) c.4082G>A (p.Ser1361Asn) c.3353G>A (p.Ser1118Asn) c.2513G>A (p.Ser838Asn) | gnomAD v4 |