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 |
|---|---|---|---|---|---|
| 14 | g.75980830G>A | CA390471751 | IFT43,TGFB3 | c.64C>T (p.Leu22Phe) n.295C>T n.90-8055G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75980830G>C | CA390471753 | IFT43,TGFB3 | c.64C>G (p.Leu22Val) n.295C>G n.90-8055G>C | |
| 14 | g.75980830G= | CA2147729149 | IFT43,TGFB3 | c.64C= (p.Leu22=) n.295C= n.90-8055G= | |
| 14 | g.75980830G>T | CA390471754 | IFT43,TGFB3 | c.64C>A (p.Leu22Ile) n.295C>A n.90-8055G>T | |
| 14 | g.75980831G>A | CA487275895 | IFT43,TGFB3 | c.63C>T (p.Ser21=) n.294C>T n.90-8054G>A | |
| 14 | g.75980831G>C | CA390471757 | IFT43,TGFB3 | c.63C>G (p.Ser21Arg) n.294C>G n.90-8054G>C | |
| 14 | g.75980831G>T | CA390471759 | IFT43,TGFB3 | c.63C>A (p.Ser21Arg) n.294C>A n.90-8054G>T | |
| 14 | g.75980832C>A | CA390471761 | IFT43,TGFB3 | c.62G>T (p.Ser21Ile) n.293G>T n.90-8053C>A | |
| 14 | g.75980832C>G | CA390471765 | IFT43,TGFB3 | c.62G>C (p.Ser21Thr) n.293G>C n.90-8053C>G | |
| 14 | g.75980832C>T | CA390471763 | IFT43,TGFB3 | c.62G>A (p.Ser21Asn) n.293G>A n.90-8053C>T | |
| 14 | g.75980833T>A | CA390471766 | IFT43,TGFB3 | c.61A>T (p.Ser21Cys) n.292A>T n.90-8052T>A | |
| 14 | g.75980833T>C | CA390471767 | IFT43,TGFB3 | c.61A>G (p.Ser21Gly) n.292A>G n.90-8052T>C | |
| 14 | g.75980833T>G | CA390471769 | IFT43,TGFB3 | c.61A>C (p.Ser21Arg) n.292A>C n.90-8052T>G | |
| 14 | g.75980834G>A | CA487275897 | IFT43,TGFB3 | c.60C>T (p.Val20=) n.291C>T n.90-8051G>A | gnomAD v4 |
| 14 | g.75980834G>C | CA487275898 | IFT43,TGFB3 | c.60C>G (p.Val20=) n.291C>G n.90-8051G>C | |
| 14 | g.75980834G>T | CA487275899 | IFT43,TGFB3 | c.60C>A (p.Val20=) n.291C>A n.90-8051G>T | |
| 14 | g.75980835A>C | CA390471772 | IFT43,TGFB3 | c.59T>G (p.Val20Gly) n.290T>G n.90-8050A>C | |
| 14 | g.75980835A>G | CA390471773 | IFT43,TGFB3 | c.59T>C (p.Val20Ala) n.290T>C n.90-8050A>G | |
| 14 | g.75980835A>T | CA390471775 | IFT43,TGFB3 | c.59T>A (p.Val20Asp) n.290T>A n.90-8050A>T | |
| 14 | g.75980836C>A | CA390471776 | IFT43,TGFB3 | c.58G>T (p.Val20Phe) n.289G>T n.90-8049C>A | |
| 14 | g.75980836C>G | CA390471777 | IFT43,TGFB3 | c.58G>C (p.Val20Leu) n.289G>C n.90-8049C>G | |
| 14 | g.75980836C>T | CA390471778 | IFT43,TGFB3 | c.58G>A (p.Val20Ile) n.289G>A n.90-8049C>T | |
| 14 | g.75980837C>A | CA487275902 | IFT43,TGFB3 | c.57G>T (p.Thr19=) n.288G>T n.90-8048C>A | |
| 14 | g.75980837C= | CA2147729150 | IFT43,TGFB3 | c.57G= (p.Thr19=) n.288G= n.90-8048C= | |
| 14 | g.75980837C>G | CA487275904 | IFT43,TGFB3 | c.57G>C (p.Thr19=) n.288G>C n.90-8048C>G | ClinVar dbSNP |
| 14 | g.75980837C>T | CA487275905 | IFT43,TGFB3 | c.57G>A (p.Thr19=) n.288G>A n.90-8048C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75980838G>A | CA7280526 | IFT43,TGFB3 | c.56C>T (p.Thr19Met) n.287C>T n.90-8047G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980838G>C | CA390471779 | IFT43,TGFB3 | c.56C>G (p.Thr19Arg) n.287C>G n.90-8047G>C | |
| 14 | g.75980838G= | CA2147729151 | IFT43,TGFB3 | c.56C= (p.Thr19=) n.287C= n.90-8047G= | |
| 14 | g.75980838G>T | CA390471780 | IFT43,TGFB3 | c.56C>A (p.Thr19Lys) n.287C>A n.90-8047G>T | |
| 14 | g.75980839T>A | CA390471784 | IFT43,TGFB3 | c.55A>T (p.Thr19Ser) n.286A>T n.90-8046T>A | |
| 14 | g.75980839T>C | CA390471781 | IFT43,TGFB3 | c.55A>G (p.Thr19Ala) n.286A>G n.90-8046T>C | ClinVar |
| 14 | g.75980839T>G | CA390471782 | IFT43,TGFB3 | c.55A>C (p.Thr19Pro) n.286A>C n.90-8046T>G | |
| 14 | g.75980840G>A | CA487275906 | IFT43,TGFB3 | c.54C>T (p.Ala18=) n.285C>T n.90-8045G>A | dbSNP |
| 14 | g.75980840G>C | CA487275907 | IFT43,TGFB3 | c.54C>G (p.Ala18=) n.285C>G n.90-8045G>C | |
| 14 | g.75980840G= | CA2147729152 | IFT43,TGFB3 | c.54C= (p.Ala18=) n.285C= n.90-8045G= | |
| 14 | g.75980840G>T | CA487275908 | IFT43,TGFB3 | c.54C>A (p.Ala18=) n.285C>A n.90-8045G>T | |
| 14 | g.75980841G>A | CA390471785 | IFT43,TGFB3 | c.53C>T (p.Ala18Val) n.284C>T n.90-8044G>A | dbSNP COSMIC |
| 14 | g.75980841G>C | CA390471787 | IFT43,TGFB3 | c.53C>G (p.Ala18Gly) n.284C>G n.90-8044G>C | |
| 14 | g.75980841G= | CA2147729153 | IFT43,TGFB3 | c.53C= (p.Ala18=) n.284C= n.90-8044G= | |
| 14 | g.75980841G>T | CA390471788 | IFT43,TGFB3 | c.53C>A (p.Ala18Asp) n.284C>A n.90-8044G>T | |
| 14 | g.75980842C>A | CA390471789 | IFT43,TGFB3 | c.52G>T (p.Ala18Ser) n.283G>T n.90-8043C>A | |
| 14 | g.75980842C>G | CA390471791 | IFT43,TGFB3 | c.52G>C (p.Ala18Pro) n.283G>C n.90-8043C>G | |
| 14 | g.75980842C>T | CA390471792 | IFT43,TGFB3 | c.52G>A (p.Ala18Thr) n.283G>A n.90-8043C>T | |
| 14 | g.75980843A>C | CA390471794 | IFT43,TGFB3 | c.51T>G (p.Phe17Leu) n.282T>G n.90-8042A>C | |
| 14 | g.75980843A>G | CA487275910 | IFT43,TGFB3 | c.51T>C (p.Phe17=) n.282T>C n.90-8042A>G | |
| 14 | g.75980843A>T | CA390471796 | IFT43,TGFB3 | c.51T>A (p.Phe17Leu) n.282T>A n.90-8042A>T | |
| 14 | g.75980844A= | CA2147729154 | IFT43,TGFB3 | c.50T= (p.Phe17=) n.281T= n.90-8041A= | |
| 14 | g.75980844A>C | CA7280527 | IFT43,TGFB3 | c.50T>G (p.Phe17Cys) n.281T>G n.90-8041A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980844A>G | CA390471798 | IFT43,TGFB3 | c.50T>C (p.Phe17Ser) n.281T>C n.90-8041A>G | |
| 14 | g.75980844A>T | CA390471800 | IFT43,TGFB3 | c.50T>A (p.Phe17Tyr) n.281T>A n.90-8041A>T | |
| 14 | g.75980845A>C | CA390471812 | IFT43,TGFB3 | c.49T>G (p.Phe17Val) n.280T>G n.90-8040A>C | gnomAD v4 |
| 14 | g.75980845A>G | CA390471804 | IFT43,TGFB3 | c.49T>C (p.Phe17Leu) n.280T>C n.90-8040A>G | |
| 14 | g.75980845A>T | CA390471802 | IFT43,TGFB3 | c.49T>A (p.Phe17Ile) n.280T>A n.90-8040A>T | |
| 14 | g.75980846G>A | CA487275913 | IFT43,TGFB3 | c.48C>T (p.Asn16=) n.279C>T n.90-8039G>A | |
| 14 | g.75980846G>C | CA7280529 | IFT43,TGFB3 | c.48C>G (p.Asn16Lys) n.279C>G n.90-8039G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980846G= | CA2147729155 | IFT43,TGFB3 | c.48C= (p.Asn16=) n.279C= n.90-8039G= | |
| 14 | g.75980846G>T | CA7280528 | IFT43,TGFB3 | c.48C>A (p.Asn16Lys) n.279C>A n.90-8039G>T | dbSNP ExAC gnomAD v4 |
| 14 | g.75980847T>A | CA390471816 | IFT43,TGFB3 | c.47A>T (p.Asn16Ile) n.278A>T n.90-8038T>A | gnomAD v4 |
| 14 | g.75980847T>C | CA390471819 | IFT43,TGFB3 | c.47A>G (p.Asn16Ser) n.278A>G n.90-8038T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.75980847T>G | CA390471821 | IFT43,TGFB3 | c.47A>C (p.Asn16Thr) n.278A>C n.90-8038T>G | |
| 14 | g.75980847T= | CA2147729156 | IFT43,TGFB3 | c.47A= (p.Asn16=) n.278A= n.90-8038T= | |
| 14 | g.75980848T>A | CA390471823 | IFT43,TGFB3 | c.46A>T (p.Asn16Tyr) n.277A>T n.90-8037T>A | |
| 14 | g.75980848T>C | CA390471826 | IFT43,TGFB3 | c.46A>G (p.Asn16Asp) n.277A>G n.90-8037T>C | |
| 14 | g.75980848T>G | CA390471831 | IFT43,TGFB3 | c.46A>C (p.Asn16His) n.277A>C n.90-8037T>G | |
| 14 | g.75980849C>A | CA487275917 | IFT43,TGFB3 | c.45G>T (p.Leu15=) n.276G>T n.90-8036C>A | gnomAD v4 |
| 14 | g.75980849C>G | CA487275919 | IFT43,TGFB3 | c.45G>C (p.Leu15=) n.276G>C n.90-8036C>G | |
| 14 | g.75980849C>T | CA487275918 | IFT43,TGFB3 | c.45G>A (p.Leu15=) n.276G>A n.90-8036C>T | |
| 14 | g.75980850A>C | CA390471834 | IFT43,TGFB3 | c.44T>G (p.Leu15Arg) n.275T>G n.90-8035A>C | |
| 14 | g.75980850A>G | CA390471836 | IFT43,TGFB3 | c.44T>C (p.Leu15Pro) n.275T>C n.90-8035A>G | |
| 14 | g.75980850A>T | CA390471839 | IFT43,TGFB3 | c.44T>A (p.Leu15Gln) n.275T>A n.90-8035A>T | |
| 14 | g.75980851G>A | CA487275922 | IFT43,TGFB3 | c.43C>T (p.Leu15=) n.274C>T n.90-8034G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75980851G>C | CA390471847 | IFT43,TGFB3 | c.43C>G (p.Leu15Val) n.274C>G n.90-8034G>C | |
| 14 | g.75980851G= | CA2147729157 | IFT43,TGFB3 | c.43C= (p.Leu15=) n.274C= n.90-8034G= | |
| 14 | g.75980851G>T | CA390471850 | IFT43,TGFB3 | c.43C>A (p.Leu15Met) n.274C>A n.90-8034G>T | ClinVar |
| 14 | g.75980852C>A | CA487275925 | IFT43,TGFB3 | c.42G>T (p.Leu14=) n.273G>T n.90-8033C>A | |
| 14 | g.75980852C>G | CA487275926 | IFT43,TGFB3 | c.42G>C (p.Leu14=) n.273G>C n.90-8033C>G | |
| 14 | g.75980852C>T | CA487275927 | IFT43,TGFB3 | c.42G>A (p.Leu14=) n.273G>A n.90-8033C>T | |
| 14 | g.75980853A>C | CA390471852 | IFT43,TGFB3 | c.41T>G (p.Leu14Arg) n.272T>G n.90-8032A>C | |
| 14 | g.75980853A>G | CA390471854 | IFT43,TGFB3 | c.41T>C (p.Leu14Pro) n.272T>C n.90-8032A>G | ClinVar dbSNP |
| 14 | g.75980853A>T | CA390471861 | IFT43,TGFB3 | c.41T>A (p.Leu14Gln) n.272T>A n.90-8032A>T | |
| 14 | g.75980854G>A | CA487275929 | IFT43,TGFB3 | c.40C>T (p.Leu14=) n.271C>T n.90-8031G>A | gnomAD v4 |
| 14 | g.75980854G>C | CA390471863 | IFT43,TGFB3 | c.40C>G (p.Leu14Val) n.271C>G n.90-8031G>C | |
| 14 | g.75980854G= | CA2147729158 | IFT43,TGFB3 | c.40C= (p.Leu14=) n.271C= n.90-8031G= | |
| 14 | g.75980854G>T | CA7280530 | IFT43,TGFB3 | c.40C>A (p.Leu14Met) n.271C>A n.90-8031G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75980855G>A | CA7280531 | IFT43,TGFB3 | c.39C>T (p.Ala13=) n.270C>T n.90-8030G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980855G>C | CA487275930 | IFT43,TGFB3 | c.39C>G (p.Ala13=) n.270C>G n.90-8030G>C | |
| 14 | g.75980855G= | CA2147729159 | IFT43,TGFB3 | c.39C= (p.Ala13=) n.270C= n.90-8030G= | |
| 14 | g.75980855G>T | CA487275931 | IFT43,TGFB3 | c.39C>A (p.Ala13=) n.270C>A n.90-8030G>T | |
| 14 | g.75980856G>A | CA390471868 | IFT43,TGFB3 | c.38C>T (p.Ala13Val) n.269C>T n.90-8029G>A | |
| 14 | g.75980856G>C | CA390471871 | IFT43,TGFB3 | c.38C>G (p.Ala13Gly) n.269C>G n.90-8029G>C | |
| 14 | g.75980856G>T | CA390471872 | IFT43,TGFB3 | c.38C>A (p.Ala13Asp) n.269C>A n.90-8029G>T | |
| 14 | g.75980857C>A | CA7280532 | IFT43,TGFB3 | c.37G>T (p.Ala13Ser) n.268G>T n.90-8028C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75980857C= | CA2147729160 | IFT43,TGFB3 | c.37G= (p.Ala13=) n.268G= n.90-8028C= | |
| 14 | g.75980857C>G | CA390471876 | IFT43,TGFB3 | c.37G>C (p.Ala13Pro) n.268G>C n.90-8028C>G | |
| 14 | g.75980857C>T | CA390471878 | IFT43,TGFB3 | c.37G>A (p.Ala13Thr) n.268G>A n.90-8028C>T | |
| 14 | g.75980858C>A | CA487275935 | IFT43,TGFB3 | c.36G>T (p.Leu12=) n.267G>T n.90-8027C>A | |
| 14 | g.75980858C= | CA2147729161 | IFT43,TGFB3 | c.36G= (p.Leu12=) n.267G= n.90-8027C= | |
| 14 | g.75980858C>G | CA487275936 | IFT43,TGFB3 | c.36G>C (p.Leu12=) n.267G>C n.90-8027C>G | |
| 14 | g.75980858C>T | CA7280533 | IFT43,TGFB3 | c.36G>A (p.Leu12=) n.267G>A n.90-8027C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75980859A>C | CA390471880 | IFT43,TGFB3 | c.35T>G (p.Leu12Arg) n.266T>G n.90-8026A>C | |
| 14 | g.75980859A>G | CA390471881 | IFT43,TGFB3 | c.35T>C (p.Leu12Pro) n.266T>C n.90-8026A>G | |
| 14 | g.75980859A>T | CA390471882 | IFT43,TGFB3 | c.35T>A (p.Leu12Gln) n.266T>A n.90-8026A>T | |
| 14 | g.75980860G>A | CA7280534 | IFT43,TGFB3 | c.34C>T (p.Leu12=) n.265C>T n.90-8025G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980860G>C | CA390471886 | IFT43,TGFB3 | c.34C>G (p.Leu12Val) n.265C>G n.90-8025G>C | gnomAD v4 |
| 14 | g.75980860G= | CA2147729162 | IFT43,TGFB3 | c.34C= (p.Leu12=) n.265C= n.90-8025G= | |
| 14 | g.75980860G>T | CA390471884 | IFT43,TGFB3 | c.34C>A (p.Leu12Met) n.265C>A n.90-8025G>T | |
| 14 | g.75980861G>A | CA487275941 | IFT43,TGFB3 | c.33C>T (p.Val11=) n.264C>T n.90-8024G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.75980861G>C | CA487275942 | IFT43,TGFB3 | c.33C>G (p.Val11=) n.264C>G n.90-8024G>C | |
| 14 | g.75980861G= | CA2147729163 | IFT43,TGFB3 | c.33C= (p.Val11=) n.264C= n.90-8024G= | |
| 14 | g.75980861G>T | CA487275943 | IFT43,TGFB3 | c.33C>A (p.Val11=) n.264C>A n.90-8024G>T | |
| 14 | g.75980862A>C | CA390471889 | IFT43,TGFB3 | c.32T>G (p.Val11Gly) n.263T>G n.90-8023A>C | |
| 14 | g.75980862A>G | CA390471896 | IFT43,TGFB3 | c.32T>C (p.Val11Ala) n.263T>C n.90-8023A>G | |
| 14 | g.75980862A>T | CA390471898 | IFT43,TGFB3 | c.32T>A (p.Val11Asp) n.263T>A n.90-8023A>T | |
| 14 | g.75980863C>A | CA390471901 | IFT43,TGFB3 | c.31G>T (p.Val11Phe) n.262G>T n.90-8022C>A | |
| 14 | g.75980863C>G | CA390471903 | IFT43,TGFB3 | c.31G>C (p.Val11Leu) n.262G>C n.90-8022C>G | |
| 14 | g.75980863C>T | CA390471904 | IFT43,TGFB3 | c.31G>A (p.Val11Ile) n.262G>A n.90-8022C>T | |
| 14 | g.75980864C>A | CA487275946 | IFT43,TGFB3 | c.30G>T (p.Val10=) n.261G>T n.90-8021C>A | |
| 14 | g.75980864C>G | CA487275948 | IFT43,TGFB3 | c.30G>C (p.Val10=) n.261G>C n.90-8021C>G | |
| 14 | g.75980864C>T | CA487275950 | IFT43,TGFB3 | c.30G>A (p.Val10=) n.261G>A n.90-8021C>T | |
| 14 | g.75980865A>C | CA390471908 | IFT43,TGFB3 | c.29T>G (p.Val10Gly) n.260T>G n.90-8020A>C | |
| 14 | g.75980865A>G | CA390471910 | IFT43,TGFB3 | c.29T>C (p.Val10Ala) n.260T>C n.90-8020A>G | |
| 14 | g.75980865A>T | CA390471912 | IFT43,TGFB3 | c.29T>A (p.Val10Glu) n.260T>A n.90-8020A>T | |
| 14 | g.75980866C>A | CA390471914 | IFT43,TGFB3 | c.28G>T (p.Val10Leu) n.259G>T n.90-8019C>A | |
| 14 | g.75980866C>G | CA390471915 | IFT43,TGFB3 | c.28G>C (p.Val10Leu) n.259G>C n.90-8019C>G | |
| 14 | g.75980866C>T | CA390471916 | IFT43,TGFB3 | c.28G>A (p.Val10Met) n.259G>A n.90-8019C>T | |
| 14 | g.75980867C>A | CA487275951 | IFT43,TGFB3 | c.27G>T (p.Leu9=) n.258G>T n.90-8018C>A | |
| 14 | g.75980867C>G | CA487275952 | IFT43,TGFB3 | c.27G>C (p.Leu9=) n.258G>C n.90-8018C>G | |
| 14 | g.75980867C>T | CA487275954 | IFT43,TGFB3 | c.27G>A (p.Leu9=) n.258G>A n.90-8018C>T | |
| 14 | g.75980868A>C | CA390471921 | IFT43,TGFB3 | c.26T>G (p.Leu9Arg) n.257T>G n.90-8017A>C | |
| 14 | g.75980868A>G | CA390471922 | IFT43,TGFB3 | c.26T>C (p.Leu9Pro) n.257T>C n.90-8017A>G | |
| 14 | g.75980868A>T | CA390471918 | IFT43,TGFB3 | c.26T>A (p.Leu9Gln) n.257T>A n.90-8017A>T | |
| 14 | g.75980869G>A | CA7280535 | IFT43,TGFB3 | c.25C>T (p.Leu9=) n.256C>T n.90-8016G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75980869G>C | CA390471926 | IFT43,TGFB3 | c.25C>G (p.Leu9Val) n.256C>G n.90-8016G>C | |
| 14 | g.75980869G= | CA2147729164 | IFT43,TGFB3 | c.25C= (p.Leu9=) n.256C= n.90-8016G= | |
| 14 | g.75980869G>T | CA390471928 | IFT43,TGFB3 | c.25C>A (p.Leu9Met) n.256C>A n.90-8016G>T | |
| 14 | g.75980870A= | CA2147729165 | IFT43,TGFB3 | c.24T= (p.Ala8=) n.255T= n.90-8015A= | |
| 14 | g.75980870A>C | CA487275958 | IFT43,TGFB3 | c.24T>G (p.Ala8=) n.255T>G n.90-8015A>C | |
| 14 | g.75980870A>G | CA487275957 | IFT43,TGFB3 | c.24T>C (p.Ala8=) n.255T>C n.90-8015A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75980870A>T | CA487275955 | IFT43,TGFB3 | c.24T>A (p.Ala8=) n.255T>A n.90-8015A>T | |
| 14 | g.75980871G>A | CA390471930 | IFT43,TGFB3 | c.23C>T (p.Ala8Val) n.254C>T n.90-8014G>A | ClinVar |
| 14 | g.75980871G>C | CA390471932 | IFT43,TGFB3 | c.23C>G (p.Ala8Gly) n.254C>G n.90-8014G>C | |
| 14 | g.75980871G>T | CA390471941 | IFT43,TGFB3 | c.23C>A (p.Ala8Asp) n.254C>A n.90-8014G>T | |
| 14 | g.75980872C>A | CA390471942 | IFT43,TGFB3 | c.22G>T (p.Ala8Ser) n.253G>T n.90-8013C>A | |
| 14 | g.75980872C>G | CA390471952 | IFT43,TGFB3 | c.22G>C (p.Ala8Pro) n.253G>C n.90-8013C>G | |
| 14 | g.75980872C>T | CA390471945 | IFT43,TGFB3 | c.22G>A (p.Ala8Thr) n.253G>A n.90-8013C>T | ClinVar |
| 14 | g.75980873C>A | CA390471954 | IFT43,TGFB3 | c.21G>T (p.Arg7Ser) n.252G>T n.90-8012C>A | |
| 14 | g.75980873C>G | CA390471956 | IFT43,TGFB3 | c.21G>C (p.Arg7Ser) n.252G>C n.90-8012C>G | |
| 14 | g.75980873C>T | CA487275962 | IFT43,TGFB3 | c.21G>A (p.Arg7=) n.252G>A n.90-8012C>T | gnomAD v4 |
| 14 | g.75980874C>A | CA390471976 | IFT43,TGFB3 | c.20G>T (p.Arg7Met) n.251G>T n.90-8011C>A | |
| 14 | g.75980874C>G | CA390471977 | IFT43,TGFB3 | c.20G>C (p.Arg7Thr) n.251G>C n.90-8011C>G | |
| 14 | g.75980874C>T | CA390471979 | IFT43,TGFB3 | c.20G>A (p.Arg7Lys) n.251G>A n.90-8011C>T | |
| 14 | g.75980875T>A | CA390471983 | IFT43,TGFB3 | c.19A>T (p.Arg7Trp) n.250A>T n.90-8010T>A | |
| 14 | g.75980875T>C | CA390471990 | IFT43,TGFB3 | c.19A>G (p.Arg7Gly) n.250A>G n.90-8010T>C | |
| 14 | g.75980875T>G | CA487275965 | IFT43,TGFB3 | c.19A>C (p.Arg7=) n.250A>C n.90-8010T>G | |
| 14 | g.75980876T>A | CA390471992 | IFT43,TGFB3 | c.18A>T (p.Gln6His) n.249A>T n.90-8009T>A | |
| 14 | g.75980876T>C | CA487275970 | IFT43,TGFB3 | c.18A>G (p.Gln6=) n.249A>G n.90-8009T>C | |
| 14 | g.75980876T>G | CA390471993 | IFT43,TGFB3 | c.18A>C (p.Gln6His) n.249A>C n.90-8009T>G | |
| 14 | g.75980877T>A | CA390471997 | IFT43,TGFB3 | c.17A>T (p.Gln6Leu) n.248A>T n.90-8008T>A | |
| 14 | g.75980877T>C | CA390472001 | IFT43,TGFB3 | c.17A>G (p.Gln6Arg) n.248A>G n.90-8008T>C | |
| 14 | g.75980877T>G | CA390472000 | IFT43,TGFB3 | c.17A>C (p.Gln6Pro) n.248A>C n.90-8008T>G | |
| 14 | g.75980878G>A | CA390472004 | IFT43,TGFB3 | c.16C>T (p.Gln6Ter) n.247C>T n.90-8007G>A | |
| 14 | g.75980878G>C | CA7280536 | IFT43,TGFB3 | c.16C>G (p.Gln6Glu) n.247C>G n.90-8007G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980878G= | CA2147729166 | IFT43,TGFB3 | c.16C= (p.Gln6=) n.247C= n.90-8007G= | |
| 14 | g.75980878G>T | CA390472006 | IFT43,TGFB3 | c.16C>A (p.Gln6Lys) n.247C>A n.90-8007G>T | |
| 14 | g.75980879C>A | CA390472009 | IFT43,TGFB3 | c.15G>T (p.Leu5Phe) n.246G>T n.90-8006C>A | |
| 14 | g.75980879C>G | CA390472012 | IFT43,TGFB3 | c.15G>C (p.Leu5Phe) n.246G>C n.90-8006C>G | |
| 14 | g.75980879C>T | CA487275975 | IFT43,TGFB3 | c.15G>A (p.Leu5=) n.246G>A n.90-8006C>T | |
| 14 | g.75980880A>C | CA390472016 | IFT43,TGFB3 | c.14T>G (p.Leu5Trp) n.245T>G n.90-8005A>C | |
| 14 | g.75980880A>G | CA390472019 | IFT43,TGFB3 | c.14T>C (p.Leu5Ser) n.245T>C n.90-8005A>G | COSMIC |
| 14 | g.75980880A>T | CA390472020 | IFT43,TGFB3 | c.14T>A (p.Leu5Ter) n.245T>A n.90-8005A>T | |
| 14 | g.75980881A>C | CA390472024 | IFT43,TGFB3 | c.13T>G (p.Leu5Val) n.244T>G n.90-8004A>C | |
| 14 | g.75980881A>G | CA487275976 | IFT43,TGFB3 | c.13T>C (p.Leu5=) n.244T>C n.90-8004A>G | |
| 14 | g.75980881A>T | CA390472026 | IFT43,TGFB3 | c.13T>A (p.Leu5Met) n.244T>A n.90-8004A>T | |
| 14 | g.75980882G>A | CA487275977 | IFT43,TGFB3 | c.12C>T (p.His4=) n.243C>T n.90-8003G>A | |
| 14 | g.75980882G>C | CA390472040 | IFT43,TGFB3 | c.12C>G (p.His4Gln) n.243C>G n.90-8003G>C | |
| 14 | g.75980882G>T | CA390472043 | IFT43,TGFB3 | c.12C>A (p.His4Gln) n.243C>A n.90-8003G>T | |
| 14 | g.75980883T>A | CA390472047 | IFT43,TGFB3 | c.11A>T (p.His4Leu) n.242A>T n.90-8002T>A | |
| 14 | g.75980883T>C | CA16607707 | IFT43,TGFB3 | c.11A>G (p.His4Arg) n.242A>G n.90-8002T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980883T>G | CA390472048 | IFT43,TGFB3 | c.11A>C (p.His4Pro) n.242A>C n.90-8002T>G | |
| 14 | g.75980883T= | CA2147729167 | IFT43,TGFB3 | c.11A= (p.His4=) n.242A= n.90-8002T= | |
| 14 | g.75980884G>A | CA263712387 | IFT43,TGFB3 | c.10C>T (p.His4Tyr) n.241C>T n.90-8001G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.75980884G>C | CA390472050 | IFT43,TGFB3 | c.10C>G (p.His4Asp) n.241C>G n.90-8001G>C | |
| 14 | g.75980884G= | CA2147729168 | IFT43,TGFB3 | c.10C= (p.His4=) n.241C= n.90-8001G= | |
| 14 | g.75980884G>T | CA390472049 | IFT43,TGFB3 | c.10C>A (p.His4Asn) n.241C>A n.90-8001G>T | |
| 14 | g.75980885C>A | CA390472052 | IFT43,TGFB3 | c.9G>T (p.Met3Ile) n.240G>T n.90-8000C>A | |
| 14 | g.75980885C>G | CA390472055 | IFT43,TGFB3 | c.9G>C (p.Met3Ile) n.240G>C n.90-8000C>G | |
| 14 | g.75980885C>T | CA390472073 | IFT43,TGFB3 | c.9G>A (p.Met3Ile) n.240G>A n.90-8000C>T | |
| 14 | g.75980886A>C | CA390472075 | IFT43,TGFB3 | c.8T>G (p.Met3Arg) n.239T>G n.90-7999A>C | |
| 14 | g.75980886A>G | CA390472077 | IFT43,TGFB3 | c.8T>C (p.Met3Thr) n.239T>C n.90-7999A>G | |
| 14 | g.75980886A>T | CA390472079 | IFT43,TGFB3 | c.8T>A (p.Met3Lys) n.239T>A n.90-7999A>T | |
| 14 | g.75980887T>A | CA390472080 | IFT43,TGFB3 | c.7A>T (p.Met3Leu) n.238A>T n.90-7998T>A | |
| 14 | g.75980887T>C | CA390472081 | IFT43,TGFB3 | c.7A>G (p.Met3Val) n.238A>G n.90-7998T>C | |
| 14 | g.75980887T>G | CA390472083 | IFT43,TGFB3 | c.7A>C (p.Met3Leu) n.238A>C n.90-7998T>G | |
| 14 | g.75980888C>A | CA390472085 | IFT43,TGFB3 | c.6G>T (p.Lys2Asn) n.237G>T n.90-7997C>A | COSMIC |
| 14 | g.75980888C>G | CA390472086 | IFT43,TGFB3 | c.6G>C (p.Lys2Asn) n.237G>C n.90-7997C>G | |
| 14 | g.75980888C>T | CA487275985 | IFT43,TGFB3 | c.6G>A (p.Lys2=) n.237G>A n.90-7997C>T | COSMIC |
| 14 | g.75980889T>A | CA390472088 | IFT43,TGFB3 | c.5A>T (p.Lys2Met) n.236A>T n.90-7996T>A | |
| 14 | g.75980889T>C | CA390472093 | IFT43,TGFB3 | c.5A>G (p.Lys2Arg) n.236A>G n.90-7996T>C | |
| 14 | g.75980889T>G | CA390472090 | IFT43,TGFB3 | c.5A>C (p.Lys2Thr) n.236A>C n.90-7996T>G | |
| 14 | g.75980890T>A | CA390472095 | IFT43,TGFB3 | c.4A>T (p.Lys2Ter) n.235A>T n.90-7995T>A | |
| 14 | g.75980890T>C | CA390472097 | IFT43,TGFB3 | c.4A>G (p.Lys2Glu) n.235A>G n.90-7995T>C | |
| 14 | g.75980890T>G | CA390472099 | IFT43,TGFB3 | c.4A>C (p.Lys2Gln) n.235A>C n.90-7995T>G | |
| 14 | g.75980891C>A | CA390472100 | IFT43,TGFB3 | c.3G>T (p.Met1Ile) n.234G>T n.90-7994C>A | |
| 14 | g.75980891C>G | CA390472102 | IFT43,TGFB3 | c.3G>C (p.Met1Ile) n.234G>C n.90-7994C>G | |
| 14 | g.75980891C>T | CA390472103 | IFT43,TGFB3 | c.3G>A (p.Met1Ile) n.234G>A n.90-7994C>T | |
| 14 | g.75980892A= | CA2147729169 | IFT43,TGFB3 | c.2T= (p.Met1=) n.233T= n.90-7993A= | |
| 14 | g.75980892A>C | CA390472106 | IFT43,TGFB3 | c.2T>G (p.Met1Arg) n.233T>G n.90-7993A>C | |
| 14 | g.75980892A>G | CA390472112 | IFT43,TGFB3 | c.2T>C (p.Met1Thr) n.233T>C n.90-7993A>G | |
| 14 | g.75980892A>T | CA390472113 | IFT43,TGFB3 | c.2T>A (p.Met1Lys) n.233T>A n.90-7993A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.75980893T>A | CA390472115 | IFT43,TGFB3 | c.1A>T (p.Met1Leu) n.232A>T n.90-7992T>A | |
| 14 | g.75980893T>C | CA263712391 | IFT43,TGFB3 | c.1A>G (p.Met1Val) n.232A>G n.90-7992T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75980893T>G | CA390472121 | IFT43,TGFB3 | c.1A>C (p.Met1Leu) n.232A>C n.90-7992T>G | |
| 14 | g.75980893T= | CA2147729170 | IFT43,TGFB3 | c.1A= (p.Met1=) n.232A= n.90-7992T= | |
| 14 | g.75980897_75980898dup | CA708627416 | IFT43,TGFB3 | c.-1_1dup (p.Met1ThrfsTer2) n.231_232dup n.90-7988_90-7987dup | dbSNP |
| 14 | g.75980894G>A | CA7280537 | IFT43,TGFB3 | c.-1C>T (n.-1C>T) n.231C>T n.90-7991G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75980894G= | CA2147729171 | IFT43,TGFB3 | c.-1C= (n.-1C=) n.231C= n.90-7991G= | |
| 14 | g.75980895T>A | CA7280538 | IFT43,TGFB3 | c.-2A>T (n.-2A>T) n.230A>T n.90-7990T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980895T= | CA2147729172 | IFT43,TGFB3 | c.-2A= (n.-2A=) n.230A= n.90-7990T= | |
| 14 | g.75980897T>C | CA964847572 | IFT43,TGFB3 | c.-4A>G (n.-4A>G) n.228A>G n.90-7988T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.75980897T= | CA2147729173 | IFT43,TGFB3 | c.-4A= (n.-4A=) n.228A= n.90-7988T= | |
| 14 | g.75980898G>A | CA615194513 | IFT43,TGFB3 | c.-5C>T (n.-5C>T) n.227C>T n.90-7987G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980898G>C | CA2625774567 | IFT43,TGFB3 | c.-5C>G (n.-5C>G) n.227C>G n.90-7987G>C | gnomAD v4 |
| 14 | g.75980898G= | CA2147729174 | IFT43,TGFB3 | c.-5C= (n.-5C=) n.227C= n.90-7987G= | |
| 14 | g.75980898G>T | CA2625774568 | IFT43,TGFB3 | c.-5C>A (n.-5C>A) n.227C>A n.90-7987G>T | gnomAD v4 |
| 14 | g.75980900G>A | CA708627439 | IFT43,TGFB3 | c.-7C>T (n.-7C>T) n.225C>T n.90-7985G>A | dbSNP gnomAD v4 |
| 14 | g.75980900G= | CA2147729175 | IFT43,TGFB3 | c.-7C= (n.-7C=) n.225C= n.90-7985G= | |
| 14 | g.75980901C>A | CA2147729177 | IFT43,TGFB3 | c.-8G>T (n.-8G>T) n.224G>T n.90-7984C>A | dbSNP |
| 14 | g.75980901C= | CA2147729176 | IFT43,TGFB3 | c.-8G= (n.-8G=) n.224G= n.90-7984C= | |
| 14 | g.75980903G>A | CA615194514 | IFT43,TGFB3 | c.-10C>T (n.-10C>T) n.222C>T n.90-7982G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75980903G>C | CA658798234 | IFT43,TGFB3 | c.-10C>G (n.-10C>G) n.222C>G n.90-7982G>C | ClinVar dbSNP |
| 14 | g.75980903G= | CA2147729178 | IFT43,TGFB3 | c.-10C= (n.-10C=) n.222C= n.90-7982G= | |
| 14 | g.75980904G>A | CA2625774571 | IFT43,TGFB3 | c.-11C>T (n.-11C>T) n.221C>T n.90-7981G>A | gnomAD v4 |
| 14 | g.75980905G>A | CA655625572 | IFT43,TGFB3 | c.-12C>T (n.-12C>T) n.220C>T n.90-7980G>A | gnomAD v4 COSMIC |
| 14 | g.75980907_75980908insCATTCGTGCATACCCTCTTCCTTCCACACACACAGCTCACGTGGGTCTCGTGGGTCACGTGGGT | CA2625774573 | IFT43,TGFB3 | c.-15_-14insACCCACGTGACCCACGAGACCCACGTGAGCTGTGTGTGTGGAAGGAAGAGGGTATGCACGAATG (n.-15_-14insACCCACGTGACCCACGAGACCCACGTGAGCTGTGTGTGTGGAAGGAAGAGGGTATGCACGAATG) n.217_218insACCCACGTGACCCACGAGACCCACGTGAGCTGTGTGTGTGGAAGGAAGAGGGTATGCACGAATG n.90-7978_90-7977insCATTCGTGCATACCCTCTTCCTTCCACACACACAGCTCACGTGGGTCTCGTGGGTCACGTGGGT | gnomAD v4 |
| 14 | g.75980908G>A | CA2625774574 | IFT43,TGFB3 | c.-15C>T (n.-15C>T) n.217C>T n.90-7977G>A | gnomAD v4 |
| 14 | g.75980912G>A | CA7280540 | IFT43,TGFB3 | c.-19C>T (n.-19C>T) n.213C>T n.90-7973G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75980912G>C | CA7280539 | IFT43,TGFB3 | c.-19C>G (n.-19C>G) n.213C>G n.90-7973G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75980912G= | CA2147729179 | IFT43,TGFB3 | c.-19C= (n.-19C=) n.213C= n.90-7973G= | |
| 14 | g.75980913G>A | CA2625774577 | IFT43,TGFB3 | c.-20C>T (n.-20C>T) n.212C>T n.90-7972G>A | gnomAD v4 |
| 14 | g.75980914C>T | CA2625774578 | IFT43,TGFB3 | c.-21G>A (n.-21G>A) n.211G>A n.90-7971C>T | gnomAD v4 |
| 14 | g.75980915_75980916delinsCA | CA2147729180 | IFT43,TGFB3 | c.-23_-22delinsTG (n.-23_-22delinsTG) n.209_210delinsTG n.90-7970_90-7969delinsCA | |
| 14 | g.75980916del | CA615194515 | IFT43,TGFB3 | c.-23del (n.-23del) n.209del n.90-7969del | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75980916A= | CA2147729181 | IFT43,TGFB3 | c.-23T= (n.-23T=) n.209T= n.90-7969A= | |
| 14 | g.75980916A>G | CA7280542 | IFT43,TGFB3 | c.-23T>C (n.-23T>C) n.209T>C n.90-7969A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75980917G>A | CA7280543 | IFT43,TGFB3 | c.-24C>T (n.-24C>T) n.208C>T n.90-7968G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980917G>C | CA263712403 | IFT43,TGFB3 | c.-24C>G (n.-24C>G) n.208C>G n.90-7968G>C | dbSNP |
| 14 | g.75980917G= | CA2147729182 | IFT43,TGFB3 | c.-24C= (n.-24C=) n.208C= n.90-7968G= | |
| 14 | g.75980921dup | CA7280541 | IFT43,TGFB3 | c.-24dup (n.-24dup) n.208dup n.90-7964dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.75980921del | CA2625774585 | IFT43,TGFB3 | c.-24del (n.-24del) n.208del n.90-7964del | gnomAD v4 |
| 14 | g.75980918G>T | CA2625774586 | IFT43,TGFB3 | c.-25C>A (n.-25C>A) n.207C>A n.90-7967G>T | gnomAD v4 |
| 14 | g.75980919G>A | CA964847576 | IFT43,TGFB3 | c.-26C>T (n.-26C>T) n.206C>T n.90-7966G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.75980919G>C | CA615194516 | IFT43,TGFB3 | c.-26C>G (n.-26C>G) n.206C>G n.90-7966G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.75980919G= | CA2147729183 | IFT43,TGFB3 | c.-26C= (n.-26C=) n.206C= n.90-7966G= | |
| 14 | g.75980920G>A | CA615194517 | IFT43,TGFB3 | c.-27C>T (n.-27C>T) n.205C>T n.90-7965G>A | dbSNP gnomAD v2 |
| 14 | g.75980920G= | CA2147729184 | IFT43,TGFB3 | c.-27C= (n.-27C=) n.205C= n.90-7965G= | |
| 14 | g.75980921G>A | CA2625774589 | IFT43,TGFB3 | c.-28C>T (n.-28C>T) n.204C>T n.90-7964G>A | gnomAD v4 |
| 14 | g.75980921G>T | CA2625774590 | IFT43,TGFB3 | c.-28C>A (n.-28C>A) n.204C>A n.90-7964G>T | gnomAD v4 |
| 14 | g.75980921_75980922delinsGA | CA2147729185 | IFT43,TGFB3 | c.-29_-28delinsTC (n.-29_-28delinsTC) n.203_204delinsTC n.90-7964_90-7963delinsGA | |
| 14 | g.75980922del | CA2147729186 | IFT43,TGFB3 | c.-29del (n.-29del) n.203del n.90-7963del | dbSNP |
| 14 | g.75980922A>G | CA2625774591 | IFT43,TGFB3 | c.-29T>C (n.-29T>C) n.203T>C n.90-7963A>G | gnomAD v4 |
| 14 | g.75980923C= | CA2147729187 | IFT43,TGFB3 | c.-30G= (n.-30G=) n.202G= n.90-7962C= | |
| 14 | g.75980923C>T | CA256456 | IFT43,TGFB3 | c.-30G>A (n.-30G>A) n.202G>A n.90-7962C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980924G>A | CA7280544 | IFT43,TGFB3 | c.-31C>T (n.-31C>T) n.201C>T n.90-7961G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.75980924G>C | CA708627466 | IFT43,TGFB3 | c.-31C>G (n.-31C>G) n.201C>G n.90-7961G>C | dbSNP |
| 14 | g.75980924G= | CA2147729188 | IFT43,TGFB3 | c.-31C= (n.-31C=) n.201C= n.90-7961G= | |
| 14 | g.75980924G>T | CA964847591 | IFT43,TGFB3 | c.-31C>A (n.-31C>A) n.201C>A n.90-7961G>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.75980925G>A | CA2575584051 | IFT43,TGFB3 | c.-32C>T (n.-32C>T) n.200C>T n.90-7960G>A | gnomAD v4 |
| 14 | g.75980925G>T | CA2625774593 | IFT43,TGFB3 | c.-32C>A (n.-32C>A) n.200C>A n.90-7960G>T | gnomAD v4 |
| 14 | g.75980926C>T | CA2625774596 | IFT43,TGFB3 | c.-33G>A (n.-33G>A) n.199G>A n.90-7959C>T | gnomAD v4 |
| 14 | g.75980929G>A | CA708627468 | IFT43,TGFB3 | c.-36C>T (n.-36C>T) n.196C>T n.90-7956G>A | dbSNP gnomAD v4 |
| 14 | g.75980929G= | CA2147729189 | IFT43,TGFB3 | c.-36C= (n.-36C=) n.196C= n.90-7956G= | |
| 14 | g.75980930G>A | CA2575584052 | IFT43,TGFB3 | c.-37C>T (n.-37C>T) n.195C>T n.90-7955G>A | gnomAD v4 |
| 14 | g.75980930_75980931delinsGC | CA2147729190 | IFT43,TGFB3 | c.-38_-37delinsGC (n.-38_-37delinsGC) n.194_195delinsGC n.90-7955_90-7954delinsGC |