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 |
|---|---|---|---|---|---|
| 8 | g.133461916C>A | CA372258028 | ST3GAL1 | c.808G>T (p.Gly270Cys) | |
| 8 | g.133461916C= | CA1821262824 | ST3GAL1 | c.808G= (p.Gly270=) | |
| 8 | g.133461916C>G | CA372258029 | ST3GAL1 | c.808G>C (p.Gly270Arg) | |
| 8 | g.133461916C>T | CA4887075 | ST3GAL1 | c.808G>A (p.Gly270Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.133461917G>A | CA463035377 | ST3GAL1 | c.807C>T (p.Thr269=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.133461917G>C | CA463035379 | ST3GAL1 | c.807C>G (p.Thr269=) | |
| 8 | g.133461917G= | CA1821262825 | ST3GAL1 | c.807C= (p.Thr269=) | |
| 8 | g.133461917G>T | CA463035378 | ST3GAL1 | c.807C>A (p.Thr269=) | |
| 8 | g.133461918G>A | CA372258030 | ST3GAL1 | c.806C>T (p.Thr269Ile) | |
| 8 | g.133461918G>C | CA372258032 | ST3GAL1 | c.806C>G (p.Thr269Ser) | |
| 8 | g.133461918G>T | CA372258031 | ST3GAL1 | c.806C>A (p.Thr269Asn) | |
| 8 | g.133461919T>A | CA372258033 | ST3GAL1 | c.805A>T (p.Thr269Ser) | |
| 8 | g.133461919T>C | CA4887077 | ST3GAL1 | c.805A>G (p.Thr269Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.133461919T>G | CA4887076 | ST3GAL1 | c.805A>C (p.Thr269Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133461919T= | CA1821262826 | ST3GAL1 | c.805A= (p.Thr269=) | |
| 8 | g.133461920A>C | CA463035380 | ST3GAL1 | c.804T>G (p.Ser268=) | |
| 8 | g.133461920A>G | CA463035381 | ST3GAL1 | c.804T>C (p.Ser268=) | |
| 8 | g.133461920A>T | CA463035382 | ST3GAL1 | c.804T>A (p.Ser268=) | |
| 8 | g.133461921G>A | CA372258034 | ST3GAL1 | c.803C>T (p.Ser268Phe) | |
| 8 | g.133461921G>C | CA372258035 | ST3GAL1 | c.803C>G (p.Ser268Cys) | |
| 8 | g.133461921G>T | CA372258036 | ST3GAL1 | c.803C>A (p.Ser268Tyr) | |
| 8 | g.133461922A>C | CA372258037 | ST3GAL1 | c.802T>G (p.Ser268Ala) | |
| 8 | g.133461922A>G | CA372258038 | ST3GAL1 | c.802T>C (p.Ser268Pro) | |
| 8 | g.133461922A>T | CA372258039 | ST3GAL1 | c.802T>A (p.Ser268Thr) | |
| 8 | g.133461923T>A | CA463035383 | ST3GAL1 | c.801A>T (p.Pro267=) | |
| 8 | g.133461923T>C | CA463035384 | ST3GAL1 | c.801A>G (p.Pro267=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.133461923T>G | CA463035385 | ST3GAL1 | c.801A>C (p.Pro267=) | |
| 8 | g.133461923T= | CA1821262827 | ST3GAL1 | c.801A= (p.Pro267=) | |
| 8 | g.133461924G>A | CA372258040 | ST3GAL1 | c.800C>T (p.Pro267Leu) | |
| 8 | g.133461924G>C | CA372258041 | ST3GAL1 | c.800C>G (p.Pro267Arg) | |
| 8 | g.133461924G= | CA1821262828 | ST3GAL1 | c.800C= (p.Pro267=) | |
| 8 | g.133461924G>T | CA4887078 | ST3GAL1 | c.800C>A (p.Pro267Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.133461925G>A | CA372258042 | ST3GAL1 | c.799C>T (p.Pro267Ser) | gnomAD v4 COSMIC |
| 8 | g.133461925G>C | CA372258043 | ST3GAL1 | c.799C>G (p.Pro267Ala) | |
| 8 | g.133461925G>T | CA372258044 | ST3GAL1 | c.799C>A (p.Pro267Thr) | |
| 8 | g.133461926G>A | CA463035386 | ST3GAL1 | c.798C>T (p.Tyr266=) | gnomAD v4 |
| 8 | g.133461926G>C | CA372258046 | ST3GAL1 | c.798C>G (p.Tyr266Ter) | |
| 8 | g.133461926G>T | CA372258045 | ST3GAL1 | c.798C>A (p.Tyr266Ter) | |
| 8 | g.133461927T>A | CA372258047 | ST3GAL1 | c.797A>T (p.Tyr266Phe) | |
| 8 | g.133461927T>C | CA372258048 | ST3GAL1 | c.797A>G (p.Tyr266Cys) | |
| 8 | g.133461927T>G | CA372258049 | ST3GAL1 | c.797A>C (p.Tyr266Ser) | |
| 8 | g.133461928A>C | CA372258050 | ST3GAL1 | c.796T>G (p.Tyr266Asp) | |
| 8 | g.133461928A>G | CA372258051 | ST3GAL1 | c.796T>C (p.Tyr266His) | gnomAD v4 |
| 8 | g.133461928A>T | CA372258052 | ST3GAL1 | c.796T>A (p.Tyr266Asn) | |
| 8 | g.133461929T>A | CA463035387 | ST3GAL1 | c.795A>T (p.Arg265=) | |
| 8 | g.133461929T>C | CA463035388 | ST3GAL1 | c.795A>G (p.Arg265=) | |
| 8 | g.133461929T>G | CA463035389 | ST3GAL1 | c.795A>C (p.Arg265=) | |
| 8 | g.133461930C>A | CA372258054 | ST3GAL1 | c.794G>T (p.Arg265Leu) | |
| 8 | g.133461930C= | CA1821262829 | ST3GAL1 | c.794G= (p.Arg265=) | |
| 8 | g.133461930C>G | CA372258053 | ST3GAL1 | c.794G>C (p.Arg265Pro) | |
| 8 | g.133461930C>T | CA4887079 | ST3GAL1 | c.794G>A (p.Arg265Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133461931G>A | CA4887080 | ST3GAL1 | c.793C>T (p.Arg265Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133461931G>C | CA372258055 | ST3GAL1 | c.793C>G (p.Arg265Gly) | |
| 8 | g.133461931G= | CA1821262830 | ST3GAL1 | c.793C= (p.Arg265=) | |
| 8 | g.133461931G>T | CA463035390 | ST3GAL1 | c.793C>A (p.Arg265=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.133461932C>A | CA463035391 | ST3GAL1 | c.792G>T (p.Gly264=) | |
| 8 | g.133461932C>G | CA463035392 | ST3GAL1 | c.792G>C (p.Gly264=) | |
| 8 | g.133461932C>T | CA463035393 | ST3GAL1 | c.792G>A (p.Gly264=) | gnomAD v4 |
| 8 | g.133461933C>A | CA372258056 | ST3GAL1 | c.791G>T (p.Gly264Val) | |
| 8 | g.133461933C>G | CA372258057 | ST3GAL1 | c.791G>C (p.Gly264Ala) | |
| 8 | g.133461933C>T | CA372258058 | ST3GAL1 | c.791G>A (p.Gly264Glu) | COSMIC |
| 8 | g.133461934C>A | CA372258059 | ST3GAL1 | c.790G>T (p.Gly264Trp) | |
| 8 | g.133461934C= | CA1821262831 | ST3GAL1 | c.790G= (p.Gly264=) | |
| 8 | g.133461934C>G | CA372258061 | ST3GAL1 | c.790G>C (p.Gly264Arg) | |
| 8 | g.133461934C>T | CA372258060 | ST3GAL1 | c.790G>A (p.Gly264Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.133461935G>A | CA4887081 | ST3GAL1 | c.789C>T (p.His263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133461935G>C | CA372258062 | ST3GAL1 | c.789C>G (p.His263Gln) | |
| 8 | g.133461935G= | CA1821262832 | ST3GAL1 | c.789C= (p.His263=) | |
| 8 | g.133461935G>T | CA372258063 | ST3GAL1 | c.789C>A (p.His263Gln) | |
| 8 | g.133461936T>A | CA372258064 | ST3GAL1 | c.788A>T (p.His263Leu) | |
| 8 | g.133461936T>C | CA372258065 | ST3GAL1 | c.788A>G (p.His263Arg) | gnomAD v4 |
| 8 | g.133461936T>G | CA372258066 | ST3GAL1 | c.788A>C (p.His263Pro) | gnomAD v4 |
| 8 | g.133461937G>A | CA372258067 | ST3GAL1 | c.787C>T (p.His263Tyr) | |
| 8 | g.133461937G>C | CA372258068 | ST3GAL1 | c.787C>G (p.His263Asp) | |
| 8 | g.133461937G>T | CA372258069 | ST3GAL1 | c.787C>A (p.His263Asn) | |
| 8 | g.133461938C>A | CA463035396 | ST3GAL1 | c.786G>T (p.Gly262=) | |
| 8 | g.133461938C= | CA1821262833 | ST3GAL1 | c.786G= (p.Gly262=) | |
| 8 | g.133461938C>G | CA463035395 | ST3GAL1 | c.786G>C (p.Gly262=) | |
| 8 | g.133461938C>T | CA463035394 | ST3GAL1 | c.786G>A (p.Gly262=) | dbSNP |
| 8 | g.133461939C>A | CA372258070 | ST3GAL1 | c.785G>T (p.Gly262Val) | |
| 8 | g.133461939C>G | CA372258071 | ST3GAL1 | c.785G>C (p.Gly262Ala) | |
| 8 | g.133461939C>T | CA372258072 | ST3GAL1 | c.785G>A (p.Gly262Glu) | |
| 8 | g.133461940C>A | CA372258074 | ST3GAL1 | c.784G>T (p.Gly262Trp) | |
| 8 | g.133461940C>G | CA372258075 | ST3GAL1 | c.784G>C (p.Gly262Arg) | |
| 8 | g.133461940C>T | CA372258073 | ST3GAL1 | c.784G>A (p.Gly262Arg) | |
| 8 | g.133461941T>A | CA372258076 | ST3GAL1 | c.783A>T (p.Gln261His) | |
| 8 | g.133461941T>C | CA463035397 | ST3GAL1 | c.783A>G (p.Gln261=) | |
| 8 | g.133461941T>G | CA372258077 | ST3GAL1 | c.783A>C (p.Gln261His) | |
| 8 | g.133461942T>A | CA372258078 | ST3GAL1 | c.782A>T (p.Gln261Leu) | |
| 8 | g.133461942T>C | CA372258079 | ST3GAL1 | c.782A>G (p.Gln261Arg) | |
| 8 | g.133461942T>G | CA372258080 | ST3GAL1 | c.782A>C (p.Gln261Pro) | |
| 8 | g.133461943G>A | CA372258083 | ST3GAL1 | c.781C>T (p.Gln261Ter) | |
| 8 | g.133461943G>C | CA372258081 | ST3GAL1 | c.781C>G (p.Gln261Glu) | |
| 8 | g.133461943G>T | CA372258082 | ST3GAL1 | c.781C>A (p.Gln261Lys) | gnomAD v4 |
| 8 | g.133461944C>A | CA463035398 | ST3GAL1 | c.780G>T (p.Leu260=) | |
| 8 | g.133461944C>G | CA463035400 | ST3GAL1 | c.780G>C (p.Leu260=) | |
| 8 | g.133461944C>T | CA463035399 | ST3GAL1 | c.780G>A (p.Leu260=) | |
| 8 | g.133461945A>C | CA372258084 | ST3GAL1 | c.779T>G (p.Leu260Arg) | |
| 8 | g.133461945A>G | CA372258085 | ST3GAL1 | c.779T>C (p.Leu260Pro) | gnomAD v4 |
| 8 | g.133461945A>T | CA372258086 | ST3GAL1 | c.779T>A (p.Leu260Gln) | |
| 8 | g.133461946G>A | CA463035401 | ST3GAL1 | c.778C>T (p.Leu260=) | gnomAD v4 |
| 8 | g.133461946G>C | CA372258087 | ST3GAL1 | c.778C>G (p.Leu260Val) | |
| 8 | g.133461946G>T | CA372258088 | ST3GAL1 | c.778C>A (p.Leu260Met) | |
| 8 | g.133461947C>A | CA372258089 | ST3GAL1 | c.777G>T (p.Trp259Cys) | |
| 8 | g.133461947C>G | CA372258091 | ST3GAL1 | c.777G>C (p.Trp259Cys) | |
| 8 | g.133461947C>T | CA372258090 | ST3GAL1 | c.777G>A (p.Trp259Ter) | |
| 8 | g.133461948C>A | CA372258092 | ST3GAL1 | c.776G>T (p.Trp259Leu) | |
| 8 | g.133461948C>G | CA372258094 | ST3GAL1 | c.776G>C (p.Trp259Ser) | |
| 8 | g.133461948C>T | CA372258093 | ST3GAL1 | c.776G>A (p.Trp259Ter) | COSMIC |
| 8 | g.133461949A>C | CA372258095 | ST3GAL1 | c.775T>G (p.Trp259Gly) | |
| 8 | g.133461949A>G | CA372258096 | ST3GAL1 | c.775T>C (p.Trp259Arg) | gnomAD v4 |
| 8 | g.133461949A>T | CA372258097 | ST3GAL1 | c.775T>A (p.Trp259Arg) | |
| 8 | g.133461950G>A | CA463035402 | ST3GAL1 | c.774C>T (p.Asn258=) | |
| 8 | g.133461950G>C | CA372258098 | ST3GAL1 | c.774C>G (p.Asn258Lys) | |
| 8 | g.133461950G>T | CA372258099 | ST3GAL1 | c.774C>A (p.Asn258Lys) | |
| 8 | g.133461951T>A | CA372258100 | ST3GAL1 | c.773A>T (p.Asn258Ile) | |
| 8 | g.133461951T>C | CA372258101 | ST3GAL1 | c.773A>G (p.Asn258Ser) | gnomAD v4 |
| 8 | g.133461951T>G | CA372258102 | ST3GAL1 | c.773A>C (p.Asn258Thr) | gnomAD v4 |
| 8 | g.133461952T>A | CA372258103 | ST3GAL1 | c.772A>T (p.Asn258Tyr) | |
| 8 | g.133461952T>C | CA372258104 | ST3GAL1 | c.772A>G (p.Asn258Asp) | |
| 8 | g.133461952T>G | CA372258105 | ST3GAL1 | c.772A>C (p.Asn258His) | |
| 8 | g.133461953G>A | CA463035403 | ST3GAL1 | c.771C>T (p.Asp257=) | gnomAD v4 |
| 8 | g.133461953G>C | CA372258107 | ST3GAL1 | c.771C>G (p.Asp257Glu) | |
| 8 | g.133461953G>T | CA372258106 | ST3GAL1 | c.771C>A (p.Asp257Glu) | |
| 8 | g.133461954T>A | CA372258108 | ST3GAL1 | c.770A>T (p.Asp257Val) | |
| 8 | g.133461954T>C | CA372258109 | ST3GAL1 | c.770A>G (p.Asp257Gly) | |
| 8 | g.133461954T>G | CA372258110 | ST3GAL1 | c.770A>C (p.Asp257Ala) | |
| 8 | g.133461955C>A | CA372258111 | ST3GAL1 | c.769G>T (p.Asp257Tyr) | |
| 8 | g.133461955C>G | CA372258112 | ST3GAL1 | c.769G>C (p.Asp257His) | |
| 8 | g.133461955C>T | CA372258113 | ST3GAL1 | c.769G>A (p.Asp257Asn) | |
| 8 | g.133461956A>C | CA372258114 | ST3GAL1 | c.768T>G (p.Phe256Leu) | |
| 8 | g.133461956A>G | CA463035406 | ST3GAL1 | c.768T>C (p.Phe256=) | |
| 8 | g.133461956A>T | CA372258115 | ST3GAL1 | c.768T>A (p.Phe256Leu) | |
| 8 | g.133461958dup | CA645560044 | ST3GAL1 | c.768dup (p.Asp257Ter) | COSMIC |
| 8 | g.133461957_133461958del | CA2782286476 | ST3GAL1 | c.767_768del (p.Phe256Ter) | |
| 8 | g.133461957A>C | CA372258116 | ST3GAL1 | c.767T>G (p.Phe256Cys) | |
| 8 | g.133461957A>G | CA372258117 | ST3GAL1 | c.767T>C (p.Phe256Ser) | gnomAD v4 |
| 8 | g.133461957A>T | CA372258118 | ST3GAL1 | c.767T>A (p.Phe256Tyr) | |
| 8 | g.133461958A>C | CA372258120 | ST3GAL1 | c.766T>G (p.Phe256Val) | |
| 8 | g.133461958A>G | CA372258121 | ST3GAL1 | c.766T>C (p.Phe256Leu) | |
| 8 | g.133461958A>T | CA372258119 | ST3GAL1 | c.766T>A (p.Phe256Ile) | |
| 8 | g.133461959G>A | CA463035408 | ST3GAL1 | c.765C>T (p.Val255=) | COSMIC |
| 8 | g.133461959G>C | CA4887082 | ST3GAL1 | c.765C>G (p.Val255=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133461959G= | CA1821262834 | ST3GAL1 | c.765C= (p.Val255=) | |
| 8 | g.133461959G>T | CA463035407 | ST3GAL1 | c.765C>A (p.Val255=) | COSMIC |
| 8 | g.133461960A>C | CA372258122 | ST3GAL1 | c.764T>G (p.Val255Gly) | |
| 8 | g.133461960A>G | CA372258123 | ST3GAL1 | c.764T>C (p.Val255Ala) | |
| 8 | g.133461960A>T | CA372258124 | ST3GAL1 | c.764T>A (p.Val255Asp) | |
| 8 | g.133461961C>A | CA372258125 | ST3GAL1 | c.763G>T (p.Val255Phe) | dbSNP gnomAD v2 |
| 8 | g.133461961C= | CA1821262835 | ST3GAL1 | c.763G= (p.Val255=) | |
| 8 | g.133461961C>G | CA372258126 | ST3GAL1 | c.763G>C (p.Val255Leu) | |
| 8 | g.133461961C>T | CA186411761 | ST3GAL1 | c.763G>A (p.Val255Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.133461961_133461962insTTG | CA2688682076 | ST3GAL1 | c.762_763insCAA (p.Tyr254_Val255insGln) | gnomAD v4 |
| 8 | g.133461962A= | CA1821262836 | ST3GAL1 | c.762T= (p.Tyr254=) | |
| 8 | g.133461962A>C | CA372258127 | ST3GAL1 | c.762T>G (p.Tyr254Ter) | |
| 8 | g.133461962A>G | CA4887083 | ST3GAL1 | c.762T>C (p.Tyr254=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.133461962A>T | CA372258128 | ST3GAL1 | c.762T>A (p.Tyr254Ter) | |
| 8 | g.133461963T>A | CA372258129 | ST3GAL1 | c.761A>T (p.Tyr254Phe) | |
| 8 | g.133461963T>C | CA372258130 | ST3GAL1 | c.761A>G (p.Tyr254Cys) | |
| 8 | g.133461963T>G | CA372258131 | ST3GAL1 | c.761A>C (p.Tyr254Ser) | |
| 8 | g.133461963_133461964insGACA | CA2688682077 | ST3GAL1 | c.760_761insTGTC (p.Tyr254LeufsTer5) | gnomAD v4 |
| 8 | g.133461964A>C | CA372258134 | ST3GAL1 | c.760T>G (p.Tyr254Asp) | |
| 8 | g.133461964A>G | CA372258133 | ST3GAL1 | c.760T>C (p.Tyr254His) | |
| 8 | g.133461964A>T | CA372258132 | ST3GAL1 | c.760T>A (p.Tyr254Asn) | |
| 8 | g.133461965C>A | CA372258135 | ST3GAL1 | c.759G>T (p.Lys253Asn) | |
| 8 | g.133461965C>G | CA372258136 | ST3GAL1 | c.759G>C (p.Lys253Asn) | |
| 8 | g.133461965C>T | CA463035409 | ST3GAL1 | c.759G>A (p.Lys253=) | |
| 8 | g.133461966T>A | CA372258137 | ST3GAL1 | c.758A>T (p.Lys253Met) | |
| 8 | g.133461966T>C | CA372258138 | ST3GAL1 | c.758A>G (p.Lys253Arg) | |
| 8 | g.133461966T>G | CA372258139 | ST3GAL1 | c.758A>C (p.Lys253Thr) | |
| 8 | g.133461967T>A | CA372258140 | ST3GAL1 | c.757A>T (p.Lys253Ter) | |
| 8 | g.133461967T>C | CA372258141 | ST3GAL1 | c.757A>G (p.Lys253Glu) | |
| 8 | g.133461967T>G | CA372258142 | ST3GAL1 | c.757A>C (p.Lys253Gln) | |
| 8 | g.133461968G>A | CA463035410 | ST3GAL1 | c.756C>T (p.Ile252=) | |
| 8 | g.133461968G>C | CA372258143 | ST3GAL1 | c.756C>G (p.Ile252Met) | |
| 8 | g.133461968G>T | CA463035411 | ST3GAL1 | c.756C>A (p.Ile252=) | |
| 8 | g.133461969A>C | CA372258144 | ST3GAL1 | c.755T>G (p.Ile252Ser) | |
| 8 | g.133461969A>G | CA372258145 | ST3GAL1 | c.755T>C (p.Ile252Thr) | |
| 8 | g.133461969A>T | CA372258146 | ST3GAL1 | c.755T>A (p.Ile252Asn) | |
| 8 | g.133461970T>A | CA372258147 | ST3GAL1 | c.754A>T (p.Ile252Phe) | |
| 8 | g.133461970T>C | CA372258149 | ST3GAL1 | c.754A>G (p.Ile252Val) | |
| 8 | g.133461970T>G | CA372258148 | ST3GAL1 | c.754A>C (p.Ile252Leu) | |
| 8 | g.133461971G>A | CA463035412 | ST3GAL1 | c.753C>T (p.Phe251=) | |
| 8 | g.133461971G>C | CA372258150 | ST3GAL1 | c.753C>G (p.Phe251Leu) | |
| 8 | g.133461971G>T | CA372258151 | ST3GAL1 | c.753C>A (p.Phe251Leu) | |
| 8 | g.133461972A>C | CA372258152 | ST3GAL1 | c.752T>G (p.Phe251Cys) | |
| 8 | g.133461972A>G | CA372258154 | ST3GAL1 | c.752T>C (p.Phe251Ser) | |
| 8 | g.133461972A>T | CA372258153 | ST3GAL1 | c.752T>A (p.Phe251Tyr) | |
| 8 | g.133461973A>C | CA372258155 | ST3GAL1 | c.751T>G (p.Phe251Val) | |
| 8 | g.133461973A>G | CA372258157 | ST3GAL1 | c.751T>C (p.Phe251Leu) | |
| 8 | g.133461973A>T | CA372258156 | ST3GAL1 | c.751T>A (p.Phe251Ile) | |
| 8 | g.133461974G>A | CA186411774 | ST3GAL1 | c.750C>T (p.Ala250=) | dbSNP gnomAD v2 |
| 8 | g.133461974G>C | CA463035413 | ST3GAL1 | c.750C>G (p.Ala250=) | |
| 8 | g.133461974G= | CA1821262837 | ST3GAL1 | c.750C= (p.Ala250=) | |
| 8 | g.133461974G>T | CA463035414 | ST3GAL1 | c.750C>A (p.Ala250=) | |
| 8 | g.133461975G>A | CA372258160 | ST3GAL1 | c.749C>T (p.Ala250Val) | dbSNP gnomAD v4 |
| 8 | g.133461975G>C | CA372258158 | ST3GAL1 | c.749C>G (p.Ala250Gly) | |
| 8 | g.133461975G= | CA1821262838 | ST3GAL1 | c.749C= (p.Ala250=) | |
| 8 | g.133461975G>T | CA372258159 | ST3GAL1 | c.749C>A (p.Ala250Asp) | dbSNP |
| 8 | g.133461976C>A | CA372258161 | ST3GAL1 | c.748G>T (p.Ala250Ser) | |
| 8 | g.133461976C>G | CA372258162 | ST3GAL1 | c.748G>C (p.Ala250Pro) | |
| 8 | g.133461976C>T | CA372258163 | ST3GAL1 | c.748G>A (p.Ala250Thr) | |
| 8 | g.133461977T>A | CA463035415 | ST3GAL1 | c.747A>T (p.Pro249=) | |
| 8 | g.133461977T>C | CA463035416 | ST3GAL1 | c.747A>G (p.Pro249=) | gnomAD v4 |
| 8 | g.133461977T>G | CA463035417 | ST3GAL1 | c.747A>C (p.Pro249=) | |
| 8 | g.133461978G>A | CA372258164 | ST3GAL1 | c.746C>T (p.Pro249Leu) | |
| 8 | g.133461978G>C | CA372258165 | ST3GAL1 | c.746C>G (p.Pro249Arg) | |
| 8 | g.133461978G= | CA1821262839 | ST3GAL1 | c.746C= (p.Pro249=) | |
| 8 | g.133461978G>T | CA186411781 | ST3GAL1 | c.746C>A (p.Pro249Gln) | dbSNP gnomAD v4 |
| 8 | g.133461979G>A | CA372258166 | ST3GAL1 | c.745C>T (p.Pro249Ser) | |
| 8 | g.133461979G>C | CA372258167 | ST3GAL1 | c.745C>G (p.Pro249Ala) | |
| 8 | g.133461979G>T | CA372258168 | ST3GAL1 | c.745C>A (p.Pro249Thr) | |
| 8 | g.133461980G>A | CA463035418 | ST3GAL1 | c.744C>T (p.His248=) | |
| 8 | g.133461980G>C | CA372258169 | ST3GAL1 | c.744C>G (p.His248Gln) | |
| 8 | g.133461980G= | CA1821262840 | ST3GAL1 | c.744C= (p.His248=) | |
| 8 | g.133461980G>T | CA372258170 | ST3GAL1 | c.744C>A (p.His248Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133461981T>A | CA372258171 | ST3GAL1 | c.743A>T (p.His248Leu) | |
| 8 | g.133461981T>C | CA372258173 | ST3GAL1 | c.743A>G (p.His248Arg) | |
| 8 | g.133461981T>G | CA372258172 | ST3GAL1 | c.743A>C (p.His248Pro) | |
| 8 | g.133461982G>A | CA372258174 | ST3GAL1 | c.742C>T (p.His248Tyr) | |
| 8 | g.133461982G>C | CA372258175 | ST3GAL1 | c.742C>G (p.His248Asp) | |
| 8 | g.133461982G>T | CA372258176 | ST3GAL1 | c.742C>A (p.His248Asn) | |
| 8 | g.133461983G>A | CA463035419 | ST3GAL1 | c.741C>T (p.Tyr247=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.133461983G>C | CA372258177 | ST3GAL1 | c.741C>G (p.Tyr247Ter) | |
| 8 | g.133461983G= | CA1821262841 | ST3GAL1 | c.741C= (p.Tyr247=) | |
| 8 | g.133461983G>T | CA372258178 | ST3GAL1 | c.741C>A (p.Tyr247Ter) | |
| 8 | g.133461984T>A | CA372258179 | ST3GAL1 | c.740A>T (p.Tyr247Phe) | |
| 8 | g.133461984T>C | CA372258180 | ST3GAL1 | c.740A>G (p.Tyr247Cys) | |
| 8 | g.133461984T>G | CA372258181 | ST3GAL1 | c.740A>C (p.Tyr247Ser) | |
| 8 | g.133461985A>C | CA372258182 | ST3GAL1 | c.739T>G (p.Tyr247Asp) | |
| 8 | g.133461985A>G | CA372258183 | ST3GAL1 | c.739T>C (p.Tyr247His) | |
| 8 | g.133461985A>T | CA372258184 | ST3GAL1 | c.739T>A (p.Tyr247Asn) | |
| 8 | g.133461986G>A | CA463035420 | ST3GAL1 | c.738C>T (p.Ile246=) | |
| 8 | g.133461986G>C | CA372258185 | ST3GAL1 | c.738C>G (p.Ile246Met) | |
| 8 | g.133461986G>T | CA463035421 | ST3GAL1 | c.738C>A (p.Ile246=) | |
| 8 | g.133461987A>C | CA372258188 | ST3GAL1 | c.737T>G (p.Ile246Ser) | |
| 8 | g.133461987A>G | CA372258186 | ST3GAL1 | c.737T>C (p.Ile246Thr) | |
| 8 | g.133461987A>T | CA372258187 | ST3GAL1 | c.737T>A (p.Ile246Asn) | |
| 8 | g.133461988T>A | CA372258189 | ST3GAL1 | c.736A>T (p.Ile246Phe) | |
| 8 | g.133461988T>C | CA372258190 | ST3GAL1 | c.736A>G (p.Ile246Val) | |
| 8 | g.133461988T>G | CA372258191 | ST3GAL1 | c.736A>C (p.Ile246Leu) | |
| 8 | g.133461989C>A | CA463035422 | ST3GAL1 | c.735G>T (p.Leu245=) | |
| 8 | g.133461989C= | CA1821262842 | ST3GAL1 | c.735G= (p.Leu245=) | |
| 8 | g.133461989C>G | CA463035423 | ST3GAL1 | c.735G>C (p.Leu245=) | |
| 8 | g.133461989C>T | CA4887084 | ST3GAL1 | c.735G>A (p.Leu245=) | dbSNP ExAC gnomAD v4 |
| 8 | g.133461990A>C | CA372258192 | ST3GAL1 | c.734T>G (p.Leu245Arg) | |
| 8 | g.133461990A>G | CA372258193 | ST3GAL1 | c.734T>C (p.Leu245Pro) | |
| 8 | g.133461990A>T | CA372258194 | ST3GAL1 | c.734T>A (p.Leu245Gln) | |
| 8 | g.133461991G>A | CA463035424 | ST3GAL1 | c.733C>T (p.Leu245=) | dbSNP gnomAD v4 COSMIC |
| 8 | g.133461991G>C | CA372258195 | ST3GAL1 | c.733C>G (p.Leu245Val) | |
| 8 | g.133461991G= | CA1821262843 | ST3GAL1 | c.733C= (p.Leu245=) | |
| 8 | g.133461991G>T | CA372258196 | ST3GAL1 | c.733C>A (p.Leu245Met) | |
| 8 | g.133461992G>A | CA463035426 | ST3GAL1 | c.732C>T (p.Ile244=) | |
| 8 | g.133461992G>C | CA372258197 | ST3GAL1 | c.732C>G (p.Ile244Met) | dbSNP |
| 8 | g.133461992G= | CA1821262844 | ST3GAL1 | c.732C= (p.Ile244=) | |
| 8 | g.133461992G>T | CA463035425 | ST3GAL1 | c.732C>A (p.Ile244=) | dbSNP |
| 8 | g.133461993A>C | CA372258200 | ST3GAL1 | c.731T>G (p.Ile244Ser) | |
| 8 | g.133461993A>G | CA372258198 | ST3GAL1 | c.731T>C (p.Ile244Thr) | |
| 8 | g.133461993A>T | CA372258199 | ST3GAL1 | c.731T>A (p.Ile244Asn) | |
| 8 | g.133461994T>A | CA372258201 | ST3GAL1 | c.730A>T (p.Ile244Phe) | gnomAD v4 |
| 8 | g.133461994T>C | CA372258202 | ST3GAL1 | c.730A>G (p.Ile244Val) | |
| 8 | g.133461994T>G | CA372258203 | ST3GAL1 | c.730A>C (p.Ile244Leu) | |
| 8 | g.133461995C>A | CA372258204 | ST3GAL1 | c.730-1G>T (n.730-1G>T) | |
| 8 | g.133461995C= | CA1821262845 | ST3GAL1 | c.730-1G= (n.730-1G=) | |
| 8 | g.133461995C>G | CA372258205 | ST3GAL1 | c.730-1G>C (n.730-1G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.133461995C>T | CA372258206 | ST3GAL1 | c.730-1G>A (n.730-1G>A) | |
| 8 | g.133461996T>A | CA372258207 | ST3GAL1 | c.730-2A>T (n.730-2A>T) | |
| 8 | g.133461996T>C | CA372258208 | ST3GAL1 | c.730-2A>G (n.730-2A>G) | |
| 8 | g.133461996T>G | CA372258209 | ST3GAL1 | c.730-2A>C (n.730-2A>C) | |
| 8 | g.133461998C>A | CA584942027 | ST3GAL1 | c.730-4G>T (n.730-4G>T) | dbSNP gnomAD v2 |
| 8 | g.133461998C= | CA1821262846 | ST3GAL1 | c.730-4G= (n.730-4G=) | |
| 8 | g.133461998C>G | CA186411794 | ST3GAL1 | c.730-4G>C (n.730-4G>C) | dbSNP gnomAD v4 |
| 8 | g.133461998C>T | CA4887085 | ST3GAL1 | c.730-4G>A (n.730-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.133461999G>A | CA4887086 | ST3GAL1 | c.730-5C>T (n.730-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133461999G>C | CA847756591 | ST3GAL1 | c.730-5C>G (n.730-5C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.133461999G= | CA1821262847 | ST3GAL1 | c.730-5C= (n.730-5C=) | |
| 8 | g.133462000G>A | CA1821262848 | ST3GAL1 | c.730-6C>T (n.730-6C>T) | dbSNP gnomAD v4 |
| 8 | g.133462000G= | CA1821262849 | ST3GAL1 | c.730-6C= (n.730-6C=) | |
| 8 | g.133462001G>A | CA2688682080 | ST3GAL1 | c.730-7C>T (n.730-7C>T) | gnomAD v4 |
| 8 | g.133462004T>C | CA847756593 | ST3GAL1 | c.730-10A>G (n.730-10A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.133462004T= | CA1821262850 | ST3GAL1 | c.730-10A= (n.730-10A=) | |
| 8 | g.133462005G>A | CA2688682081 | ST3GAL1 | c.730-11C>T (n.730-11C>T) | gnomAD v4 |
| 8 | g.133462006G>T | CA2688682082 | ST3GAL1 | c.730-12C>A (n.730-12C>A) | gnomAD v4 |
| 8 | g.133462007G>A | CA2688682084 | ST3GAL1 | c.730-13C>T (n.730-13C>T) | gnomAD v4 |
| 8 | g.133462007G>C | CA2688682083 | ST3GAL1 | c.730-13C>G (n.730-13C>G) | gnomAD v4 |
| 8 | g.133462009A= | CA1821262851 | ST3GAL1 | c.730-15T= (n.730-15T=) | |
| 8 | g.133462009A>G | CA4887087 | ST3GAL1 | c.730-15T>C (n.730-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.133462010G= | CA1821262852 | ST3GAL1 | c.730-16C= (n.730-16C=) | |
| 8 | g.133462010G>T | CA1119435033 | ST3GAL1 | c.730-16C>A (n.730-16C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.133462013A= | CA1821262853 | ST3GAL1 | c.730-19T= (n.730-19T=) | |
| 8 | g.133462013A>G | CA1119435036 | ST3GAL1 | c.730-19T>C (n.730-19T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.133462014C= | CA1821262854 | ST3GAL1 | c.730-20G= (n.730-20G=) | |
| 8 | g.133462014C>G | CA2688682085 | ST3GAL1 | c.730-20G>C (n.730-20G>C) | gnomAD v4 |
| 8 | g.133462014C>T | CA4887088 | ST3GAL1 | c.730-20G>A (n.730-20G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133462014_133462015insCCTCCCCC | CA1821262855 | ST3GAL1 | c.730-20_730-19insGGGGAGGG (n.730-20_730-19insGGGGAGGG) | dbSNP |
| 8 | g.133462015G>A | CA4887089 | ST3GAL1 | c.730-21C>T (n.730-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.133462015G>C | CA2688682086 | ST3GAL1 | c.730-21C>G (n.730-21C>G) | gnomAD v4 |
| 8 | g.133462015G= | CA1821262856 | ST3GAL1 | c.730-21C= (n.730-21C=) | |
| 8 | g.133462015G>T | CA847756598 | ST3GAL1 | c.730-21C>A (n.730-21C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.133462016G>A | CA847756600 | ST3GAL1 | c.730-22C>T (n.730-22C>T) | dbSNP gnomAD v4 |
| 8 | g.133462016G= | CA1821262858 | ST3GAL1 | c.730-22C= (n.730-22C=) | |
| 8 | g.133462016G>T | CA2688682087 | ST3GAL1 | c.730-22C>A (n.730-22C>A) | gnomAD v4 |
| 8 | g.133462016_133462029delinsGCCCTTAGTGAGTT | CA1821262857 | ST3GAL1 | c.730-35_730-22delinsAACTCACTAAGGGC (n.730-35_730-22delinsAACTCACTAAGGGC) |