| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.74421632_74422072del | CA2499226858 | SLC16A2 | c.-6_430+5del | ClinVar dbSNP |
| X | g.74421929G>A | CA413656172 | SLC16A2 | c.292G>A (p.Gly98Ser) c.38G>A | |
| X | g.74421929G>C | CA413656174 | SLC16A2 | c.292G>C (p.Gly98Arg) c.38G>C | |
| X | g.74421929G>T | CA413656173 | SLC16A2 | c.292G>T (p.Gly98Cys) c.38G>T | |
| X | g.74421930G>A | CA413656175 | SLC16A2 | c.293G>A (p.Gly98Asp) c.39G>A | |
| X | g.74421930G>C | CA413656176 | SLC16A2 | c.293G>C (p.Gly98Ala) c.39G>C | |
| X | g.74421930G>T | CA413656177 | SLC16A2 | c.293G>T (p.Gly98Val) c.39G>T | |
| X | g.74421931C>A | CA517464591 | SLC16A2 | c.294C>A (p.Gly98=) c.40C>A | |
| X | g.74421931C>G | CA517464594 | SLC16A2 | c.294C>G (p.Gly98=) c.40C>G | |
| X | g.74421931C>T | CA517464596 | SLC16A2 | c.294C>T (p.Gly98=) c.40C>T | |
| X | g.74421932T>A | CA413656178 | SLC16A2 | c.295T>A (p.Phe99Ile) c.41T>A | |
| X | g.74421932T>C | CA413656179 | SLC16A2 | c.295T>C (p.Phe99Leu) c.41T>C | |
| X | g.74421932T>G | CA413656180 | SLC16A2 | c.295T>G (p.Phe99Val) c.41T>G | |
| X | g.74421933T>A | CA413656183 | SLC16A2 | c.296T>A (p.Phe99Tyr) c.42T>A | |
| X | g.74421933T>C | CA413656181 | SLC16A2 | c.296T>C (p.Phe99Ser) c.42T>C | |
| X | g.74421933T>G | CA413656182 | SLC16A2 | c.296T>G (p.Phe99Cys) c.42T>G | |
| X | g.74421934C>A | CA413656184 | SLC16A2 | c.297C>A (p.Phe99Leu) c.43C>A | |
| X | g.74421934C>G | CA413656185 | SLC16A2 | c.297C>G (p.Phe99Leu) c.43C>G | |
| X | g.74421934C>T | CA517464600 | SLC16A2 | c.297C>T (p.Phe99=) c.43C>T | gnomAD v4 |
| X | g.74421935G>A | CA413656186 | SLC16A2 | c.298G>A (p.Gly100Ser) c.44G>A | dbSNP gnomAD v2 |
| X | g.74421935G>C | CA413656187 | SLC16A2 | c.298G>C (p.Gly100Arg) c.44G>C | |
| X | g.74421935G= | CA2437472651 | SLC16A2 | c.298G= (p.Gly100=) c.44G= | |
| X | g.74421935G>T | CA413656188 | SLC16A2 | c.298G>T (p.Gly100Cys) c.44G>T | |
| X | g.74421936G>A | CA413656191 | SLC16A2 | c.299G>A (p.Gly100Asp) c.45G>A | |
| X | g.74421936G>C | CA413656189 | SLC16A2 | c.299G>C (p.Gly100Ala) c.45G>C | |
| X | g.74421936G>T | CA413656190 | SLC16A2 | c.299G>T (p.Gly100Val) c.45G>T | |
| X | g.74421937C>A | CA517464603 | SLC16A2 | c.300C>A (p.Gly100=) c.46C>A | gnomAD v4 |
| X | g.74421937C>G | CA517464604 | SLC16A2 | c.300C>G (p.Gly100=) c.46C>G | |
| X | g.74421937C>T | CA517464605 | SLC16A2 | c.300C>T (p.Gly100=) c.46C>T | |
| X | g.74421938T>A | CA413656192 | SLC16A2 | c.301T>A (p.Trp101Arg) c.47T>A | |
| X | g.74421938T>C | CA413656193 | SLC16A2 | c.301T>C (p.Trp101Arg) c.47T>C | |
| X | g.74421938T>G | CA413656194 | SLC16A2 | c.301T>G (p.Trp101Gly) c.47T>G | |
| X | g.74421939G>A | CA413656195 | SLC16A2 | c.302G>A (p.Trp101Ter) c.48G>A | |
| X | g.74421939G>C | CA413656196 | SLC16A2 | c.302G>C (p.Trp101Ser) c.48G>C | |
| X | g.74421939G>T | CA413656197 | SLC16A2 | c.302G>T (p.Trp101Leu) c.48G>T | |
| X | g.74421940G>A | CA413656198 | SLC16A2 | c.303G>A (p.Trp101Ter) c.49G>A | |
| X | g.74421940G>C | CA413656199 | SLC16A2 | c.303G>C (p.Trp101Cys) c.49G>C | |
| X | g.74421940G>T | CA413656200 | SLC16A2 | c.303G>T (p.Trp101Cys) c.49G>T | |
| X | g.74421941G>A | CA413656201 | SLC16A2 | c.304G>A (p.Val102Met) c.50G>A | dbSNP gnomAD v4 |
| X | g.74421941G>C | CA413656202 | SLC16A2 | c.304G>C (p.Val102Leu) c.50G>C | |
| X | g.74421941G= | CA2437472652 | SLC16A2 | c.304G= (p.Val102=) c.50G= | |
| X | g.74421941G>T | CA413656203 | SLC16A2 | c.304G>T (p.Val102Leu) c.50G>T | gnomAD v4 |
| X | g.74421942T>A | CA413656204 | SLC16A2 | c.305T>A (p.Val102Glu) c.51T>A | |
| X | g.74421942T>C | CA413656205 | SLC16A2 | c.305T>C (p.Val102Ala) c.51T>C | |
| X | g.74421942T>G | CA10454396 | SLC16A2 | c.305T>G (p.Val102Gly) c.51T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74421942T= | CA2437472653 | SLC16A2 | c.305T= (p.Val102=) c.51T= | |
| X | g.74421943G>A | CA517464614 | SLC16A2 | c.306G>A (p.Val102=) c.52G>A | ClinVar |
| X | g.74421943G>C | CA517464616 | SLC16A2 | c.306G>C (p.Val102=) c.52G>C | |
| X | g.74421943G>T | CA517464618 | SLC16A2 | c.306G>T (p.Val102=) c.52G>T | gnomAD v4 |
| X | g.74421944G>A | CA413656206 | SLC16A2 | c.307G>A (p.Val103Met) c.53G>A | |
| X | g.74421944G>C | CA413656207 | SLC16A2 | c.307G>C (p.Val103Leu) c.53G>C | |
| X | g.74421944G>T | CA413656208 | SLC16A2 | c.307G>T (p.Val103Leu) c.53G>T | |
| X | g.74421945T>A | CA413656209 | SLC16A2 | c.308T>A (p.Val103Glu) c.54T>A | |
| X | g.74421945T>C | CA413656210 | SLC16A2 | c.308T>C (p.Val103Ala) c.54T>C | |
| X | g.74421945T>G | CA413656211 | SLC16A2 | c.308T>G (p.Val103Gly) c.54T>G | |
| X | g.74421946G>A | CA517464624 | SLC16A2 | c.309G>A (p.Val103=) c.55G>A | |
| X | g.74421946G>C | CA517464625 | SLC16A2 | c.309G>C (p.Val103=) c.55G>C | |
| X | g.74421946G>T | CA517464626 | SLC16A2 | c.309G>T (p.Val103=) c.55G>T | |
| X | g.74421947G>A | CA413656212 | SLC16A2 | c.310G>A (p.Val104Met) c.56G>A | |
| X | g.74421947G>C | CA413656213 | SLC16A2 | c.310G>C (p.Val104Leu) c.56G>C | |
| X | g.74421947G>T | CA413656214 | SLC16A2 | c.310G>T (p.Val104Leu) c.56G>T | |
| X | g.74421948T>A | CA413656215 | SLC16A2 | c.311T>A (p.Val104Glu) c.57T>A | |
| X | g.74421948T>C | CA413656216 | SLC16A2 | c.311T>C (p.Val104Ala) c.57T>C | |
| X | g.74421948T>G | CA413656217 | SLC16A2 | c.311T>G (p.Val104Gly) c.57T>G | |
| X | g.74421949G>A | CA517464628 | SLC16A2 | c.312G>A (p.Val104=) c.58G>A | |
| X | g.74421949G>C | CA517464629 | SLC16A2 | c.312G>C (p.Val104=) c.58G>C | |
| X | g.74421949G= | CA2437472654 | SLC16A2 | c.312G= (p.Val104=) c.58G= | |
| X | g.74421949G>T | CA517464631 | SLC16A2 | c.312G>T (p.Val104=) c.58G>T | dbSNP gnomAD v4 |
| X | g.74421950T>A | CA413656220 | SLC16A2 | c.313T>A (p.Phe105Ile) c.59T>A | |
| X | g.74421950T>C | CA413656218 | SLC16A2 | c.313T>C (p.Phe105Leu) c.59T>C | |
| X | g.74421950T>G | CA413656219 | SLC16A2 | c.313T>G (p.Phe105Val) c.59T>G | dbSNP |
| X | g.74421950T= | CA2437472655 | SLC16A2 | c.313T= (p.Phe105=) c.59T= | |
| X | g.74421951T>A | CA413656221 | SLC16A2 | c.314T>A (p.Phe105Tyr) c.60T>A | |
| X | g.74421951T>C | CA413656222 | SLC16A2 | c.314T>C (p.Phe105Ser) c.60T>C | |
| X | g.74421951T>G | CA413656223 | SLC16A2 | c.314T>G (p.Phe105Cys) c.60T>G | |
| X | g.74421952C>A | CA413656224 | SLC16A2 | c.315C>A (p.Phe105Leu) c.61C>A | gnomAD v4 |
| X | g.74421952C>G | CA413656225 | SLC16A2 | c.315C>G (p.Phe105Leu) c.61C>G | gnomAD v4 |
| X | g.74421952C>T | CA517464635 | SLC16A2 | c.315C>T (p.Phe105=) c.61C>T | |
| X | g.74421953G>A | CA413656226 | SLC16A2 | c.316G>A (p.Ala106Thr) c.62G>A | |
| X | g.74421953G>C | CA238871 | SLC16A2 | c.316G>C (p.Ala106Pro) c.62G>C | ClinVar dbSNP |
| X | g.74421953G= | CA2437472656 | SLC16A2 | c.316G= (p.Ala106=) c.62G= | |
| X | g.74421953G>T | CA413656227 | SLC16A2 | c.316G>T (p.Ala106Ser) c.62G>T | gnomAD v4 |
| X | g.74421954C>A | CA413656228 | SLC16A2 | c.317C>A (p.Ala106Asp) c.63C>A | |
| X | g.74421954C>G | CA413656229 | SLC16A2 | c.317C>G (p.Ala106Gly) c.63C>G | gnomAD v4 |
| X | g.74421954C>T | CA413656230 | SLC16A2 | c.317C>T (p.Ala106Val) c.63C>T | |
| X | g.74421955T>A | CA517464637 | SLC16A2 | c.318T>A (p.Ala106=) c.64T>A | |
| X | g.74421955T>C | CA517464638 | SLC16A2 | c.318T>C (p.Ala106=) c.64T>C | gnomAD v4 |
| X | g.74421955T>G | CA517464640 | SLC16A2 | c.318T>G (p.Ala106=) c.64T>G | |
| X | g.74421956G>A | CA413656233 | SLC16A2 | c.319G>A (p.Ala107Thr) c.65G>A | gnomAD v4 |
| X | g.74421956G>C | CA413656232 | SLC16A2 | c.319G>C (p.Ala107Pro) c.65G>C | |
| X | g.74421956G>T | CA413656231 | SLC16A2 | c.319G>T (p.Ala107Ser) c.65G>T | |
| X | g.74421957C>A | CA413656235 | SLC16A2 | c.320C>A (p.Ala107Asp) c.66C>A | |
| X | g.74421957C>G | CA413656234 | SLC16A2 | c.320C>G (p.Ala107Gly) c.66C>G | |
| X | g.74421957C>T | CA413656236 | SLC16A2 | c.320C>T (p.Ala107Val) c.66C>T | gnomAD v4 |
| X | g.74421958C>A | CA517464644 | SLC16A2 | c.321C>A (p.Ala107=) c.67C>A | |
| X | g.74421958C>G | CA517464645 | SLC16A2 | c.321C>G (p.Ala107=) c.67C>G | |
| X | g.74421958C>T | CA517464646 | SLC16A2 | c.321C>T (p.Ala107=) c.67C>T | |
| X | g.74421959A>C | CA413656237 | SLC16A2 | c.322A>C (p.Thr108Pro) c.68A>C | |
| X | g.74421959A>G | CA413656238 | SLC16A2 | c.322A>G (p.Thr108Ala) c.68A>G | |
| X | g.74421959A>T | CA413656239 | SLC16A2 | c.322A>T (p.Thr108Ser) c.68A>T | |
| X | g.74421960C>A | CA413656240 | SLC16A2 | c.323C>A (p.Thr108Asn) c.69C>A | |
| X | g.74421960C>G | CA413656241 | SLC16A2 | c.323C>G (p.Thr108Ser) c.69C>G | |
| X | g.74421960C>T | CA413656242 | SLC16A2 | c.323C>T (p.Thr108Ile) c.69C>T | |
| X | g.74421961C>A | CA517464648 | SLC16A2 | c.324C>A (p.Thr108=) c.70C>A | |
| X | g.74421961C>G | CA517464649 | SLC16A2 | c.324C>G (p.Thr108=) c.70C>G | |
| X | g.74421961C>T | CA517464651 | SLC16A2 | c.324C>T (p.Thr108=) c.70C>T | |
| X | g.74421962T>A | CA413656243 | SLC16A2 | c.325T>A (p.Trp109Arg) c.71T>A | |
| X | g.74421962T>C | CA413656244 | SLC16A2 | c.325T>C (p.Trp109Arg) c.71T>C | ClinVar dbSNP |
| X | g.74421962T>G | CA413656245 | SLC16A2 | c.325T>G (p.Trp109Gly) c.71T>G | |
| X | g.74421963G>A | CA274912 | SLC16A2 | c.326G>A (p.Trp109Ter) c.72G>A | ClinVar dbSNP |
| X | g.74421963G>C | CA413656246 | SLC16A2 | c.326G>C (p.Trp109Ser) c.72G>C | |
| X | g.74421963G= | CA2437472657 | SLC16A2 | c.326G= (p.Trp109=) c.72G= | |
| X | g.74421963G>T | CA413656247 | SLC16A2 | c.326G>T (p.Trp109Leu) c.72G>T | |
| X | g.74421964G>A | CA413656250 | SLC16A2 | c.327G>A (p.Trp109Ter) c.73G>A | ClinVar dbSNP |
| X | g.74421964G>C | CA413656248 | SLC16A2 | c.327G>C (p.Trp109Cys) c.73G>C | |
| X | g.74421964G= | CA2437472658 | SLC16A2 | c.327G= (p.Trp109=) c.73G= | |
| X | g.74421964G>T | CA413656249 | SLC16A2 | c.327G>T (p.Trp109Cys) c.73G>T | |
| X | g.74421965T>A | CA413656251 | SLC16A2 | c.328T>A (p.Cys110Ser) c.74T>A | |
| X | g.74421965T>C | CA413656252 | SLC16A2 | c.328T>C (p.Cys110Arg) c.74T>C | |
| X | g.74421965T>G | CA413656253 | SLC16A2 | c.328T>G (p.Cys110Gly) c.74T>G | |
| X | g.74421966G>A | CA413656254 | SLC16A2 | c.329G>A (p.Cys110Tyr) c.75G>A | |
| X | g.74421966G>C | CA413656255 | SLC16A2 | c.329G>C (p.Cys110Ser) c.75G>C | |
| X | g.74421966G>T | CA413656256 | SLC16A2 | c.329G>T (p.Cys110Phe) c.75G>T | |
| X | g.74421967C>A | CA413656257 | SLC16A2 | c.330C>A (p.Cys110Ter) c.76C>A | |
| X | g.74421967C>G | CA413656258 | SLC16A2 | c.330C>G (p.Cys110Trp) c.76C>G | |
| X | g.74421967C>T | CA517464413 | SLC16A2 | c.330C>T (p.Cys110=) c.76C>T | gnomAD v4 |
| X | g.74421968A>C | CA413656259 | SLC16A2 | c.331A>C (p.Asn111His) c.77A>C | |
| X | g.74421968A>G | CA413656260 | SLC16A2 | c.331A>G (p.Asn111Asp) c.77A>G | |
| X | g.74421968A>T | CA413656261 | SLC16A2 | c.331A>T (p.Asn111Tyr) c.77A>T | |
| X | g.74421969A= | CA2437472659 | SLC16A2 | c.332A= (p.Asn111=) c.78A= | |
| X | g.74421969A>C | CA413656263 | SLC16A2 | c.332A>C (p.Asn111Thr) c.78A>C | |
| X | g.74421969A>G | CA413656264 | SLC16A2 | c.332A>G (p.Asn111Ser) c.78A>G | dbSNP gnomAD v4 |
| X | g.74421969A>T | CA413656262 | SLC16A2 | c.332A>T (p.Asn111Ile) c.78A>T | |
| X | g.74421970C>A | CA413656265 | SLC16A2 | c.333C>A (p.Asn111Lys) c.79C>A | |
| X | g.74421970C= | CA2437472660 | SLC16A2 | c.333C= (p.Asn111=) c.79C= | |
| X | g.74421970C>G | CA413656266 | SLC16A2 | c.333C>G (p.Asn111Lys) c.79C>G | |
| X | g.74421970C>T | CA517464415 | SLC16A2 | c.333C>T (p.Asn111=) c.79C>T | dbSNP COSMIC |
| X | g.74421971G>A | CA413656267 | SLC16A2 | c.334G>A (p.Gly112Ser) c.80G>A | |
| X | g.74421971G>C | CA413656268 | SLC16A2 | c.334G>C (p.Gly112Arg) c.80G>C | ClinVar dbSNP |
| X | g.74421971G= | CA2437472661 | SLC16A2 | c.334G= (p.Gly112=) c.80G= | |
| X | g.74421971G>T | CA413656269 | SLC16A2 | c.334G>T (p.Gly112Cys) c.80G>T | |
| X | g.74421972G>A | CA413656272 | SLC16A2 | c.335G>A (p.Gly112Asp) c.81G>A | |
| X | g.74421972G>C | CA413656271 | SLC16A2 | c.335G>C (p.Gly112Ala) c.81G>C | |
| X | g.74421972G>T | CA413656270 | SLC16A2 | c.335G>T (p.Gly112Val) c.81G>T | |
| X | g.74421973C>A | CA517464420 | SLC16A2 | c.336C>A (p.Gly112=) c.82C>A | |
| X | g.74421973C>G | CA517464419 | SLC16A2 | c.336C>G (p.Gly112=) c.82C>G | |
| X | g.74421973C>T | CA517464418 | SLC16A2 | c.336C>T (p.Gly112=) c.82C>T | |
| X | g.74421974T>A | CA413656273 | SLC16A2 | c.337T>A (p.Ser113Thr) c.83T>A | |
| X | g.74421974T>C | CA413656274 | SLC16A2 | c.337T>C (p.Ser113Pro) c.83T>C | |
| X | g.74421974T>G | CA413656275 | SLC16A2 | c.337T>G (p.Ser113Ala) c.83T>G | |
| X | g.74421975C>A | CA413656276 | SLC16A2 | c.338C>A (p.Ser113Tyr) c.84C>A | |
| X | g.74421975C>G | CA413656277 | SLC16A2 | c.338C>G (p.Ser113Cys) c.84C>G | gnomAD v4 |
| X | g.74421975C>T | CA413656278 | SLC16A2 | c.338C>T (p.Ser113Phe) c.84C>T | |
| X | g.74421976C>A | CA517464432 | SLC16A2 | c.339C>A (p.Ser113=) c.85C>A | |
| X | g.74421976C>G | CA517464427 | SLC16A2 | c.339C>G (p.Ser113=) c.85C>G | |
| X | g.74421976C>T | CA517464430 | SLC16A2 | c.339C>T (p.Ser113=) c.85C>T | |
| X | g.74421977_74421979dup | CA2695234498 | SLC16A2 | c.340_342dup (p.Ile114_Phe115insIle) c.86_88dup | |
| X | g.74421977A>C | CA413656279 | SLC16A2 | c.340A>C (p.Ile114Leu) c.86A>C | |
| X | g.74421977A>G | CA413656281 | SLC16A2 | c.340A>G (p.Ile114Val) c.86A>G | |
| X | g.74421977A>T | CA413656280 | SLC16A2 | c.340A>T (p.Ile114Phe) c.86A>T | |
| X | g.74421978T>A | CA413656282 | SLC16A2 | c.341T>A (p.Ile114Asn) c.87T>A | |
| X | g.74421978T>C | CA413656283 | SLC16A2 | c.341T>C (p.Ile114Thr) c.87T>C | |
| X | g.74421978T>G | CA413656284 | SLC16A2 | c.341T>G (p.Ile114Ser) c.87T>G | |
| X | g.74421979C>A | CA517464434 | SLC16A2 | c.342C>A (p.Ile114=) c.88C>A | |
| X | g.74421979C>G | CA413656285 | SLC16A2 | c.342C>G (p.Ile114Met) c.88C>G | |
| X | g.74421979C>T | CA517464437 | SLC16A2 | c.342C>T (p.Ile114=) c.88C>T | |
| X | g.74421980T>A | CA413656286 | SLC16A2 | c.343T>A (p.Phe115Ile) c.89T>A | |
| X | g.74421980T>C | CA413656287 | SLC16A2 | c.343T>C (p.Phe115Leu) c.89T>C | |
| X | g.74421980T>G | CA413656288 | SLC16A2 | c.343T>G (p.Phe115Val) c.89T>G | |
| X | g.74421981T>A | CA413656289 | SLC16A2 | c.344T>A (p.Phe115Tyr) c.90T>A | |
| X | g.74421981T>C | CA413656290 | SLC16A2 | c.344T>C (p.Phe115Ser) c.90T>C | gnomAD v4 |
| X | g.74421981T>G | CA413656291 | SLC16A2 | c.344T>G (p.Phe115Cys) c.90T>G | |
| X | g.74421982C>A | CA413656292 | SLC16A2 | c.345C>A (p.Phe115Leu) c.91C>A | |
| X | g.74421982C= | CA2437472662 | SLC16A2 | c.345C= (p.Phe115=) c.91C= | |
| X | g.74421982C>G | CA413656293 | SLC16A2 | c.345C>G (p.Phe115Leu) c.91C>G | |
| X | g.74421982C>T | CA331275954 | SLC16A2 | c.345C>T (p.Phe115=) c.91C>T | dbSNP |
| X | g.74421983G>A | CA413656295 | SLC16A2 | c.346G>A (p.Gly116Ser) c.92G>A | gnomAD v4 |
| X | g.74421983G>C | CA413656296 | SLC16A2 | c.346G>C (p.Gly116Arg) c.92G>C | |
| X | g.74421983G>T | CA413656294 | SLC16A2 | c.346G>T (p.Gly116Cys) c.92G>T | |
| X | g.74421984G>A | CA413656297 | SLC16A2 | c.347G>A (p.Gly116Asp) c.93G>A | |
| X | g.74421984G>C | CA413656299 | SLC16A2 | c.347G>C (p.Gly116Ala) c.93G>C | dbSNP gnomAD v2 |
| X | g.74421984G= | CA2437472663 | SLC16A2 | c.347G= (p.Gly116=) c.93G= | |
| X | g.74421984G>T | CA413656298 | SLC16A2 | c.347G>T (p.Gly116Val) c.93G>T | |
| X | g.74421985C>A | CA517464441 | SLC16A2 | c.348C>A (p.Gly116=) c.94C>A | ClinVar dbSNP |
| X | g.74421985C= | CA2437472664 | SLC16A2 | c.348C= (p.Gly116=) c.94C= | |
| X | g.74421985C>G | CA517464443 | SLC16A2 | c.348C>G (p.Gly116=) c.94C>G | |
| X | g.74421985C>T | CA517464445 | SLC16A2 | c.348C>T (p.Gly116=) c.94C>T | |
| X | g.74421986A>C | CA413656300 | SLC16A2 | c.349A>C (p.Ile117Leu) c.95A>C | |
| X | g.74421986A>G | CA413656301 | SLC16A2 | c.349A>G (p.Ile117Val) c.95A>G | |
| X | g.74421986A>T | CA413656302 | SLC16A2 | c.349A>T (p.Ile117Phe) c.95A>T | |
| X | g.74421987T>A | CA413656303 | SLC16A2 | c.350T>A (p.Ile117Asn) c.96T>A | |
| X | g.74421987T>C | CA413656304 | SLC16A2 | c.350T>C (p.Ile117Thr) c.96T>C | |
| X | g.74421987T>G | CA413656305 | SLC16A2 | c.350T>G (p.Ile117Ser) c.96T>G | |
| X | g.74421988C>A | CA517464452 | SLC16A2 | c.351C>A (p.Ile117=) c.97C>A | |
| X | g.74421988C>G | CA413656306 | SLC16A2 | c.351C>G (p.Ile117Met) c.97C>G | |
| X | g.74421988C>T | CA517464455 | SLC16A2 | c.351C>T (p.Ile117=) c.97C>T | |
| X | g.74421989C>A | CA413656307 | SLC16A2 | c.352C>A (p.His118Asn) c.98C>A | |
| X | g.74421989C>G | CA413656308 | SLC16A2 | c.352C>G (p.His118Asp) c.98C>G | |
| X | g.74421989C>T | CA413656309 | SLC16A2 | c.352C>T (p.His118Tyr) c.98C>T | |
| X | g.74421990A= | CA2437472665 | SLC16A2 | c.353A= (p.His118=) c.99A= | |
| X | g.74421990A>C | CA274914 | SLC16A2 | c.353A>C (p.His118Pro) c.99A>C | ClinVar dbSNP |
| X | g.74421990A>G | CA413656310 | SLC16A2 | c.353A>G (p.His118Arg) c.99A>G | |
| X | g.74421990A>T | CA413656311 | SLC16A2 | c.353A>T (p.His118Leu) c.99A>T | |
| X | g.74421991T>A | CA413656312 | SLC16A2 | c.354T>A (p.His118Gln) c.100T>A | |
| X | g.74421991T>C | CA517464461 | SLC16A2 | c.354T>C (p.His118=) c.100T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.74421991T>G | CA413656313 | SLC16A2 | c.354T>G (p.His118Gln) c.100T>G | gnomAD v3 gnomAD v4 |
| X | g.74421991T= | CA2437472666 | SLC16A2 | c.354T= (p.His118=) c.100T= | |
| X | g.74421992A>C | CA413656314 | SLC16A2 | c.355A>C (p.Asn119His) c.101A>C | |
| X | g.74421992A>G | CA413656315 | SLC16A2 | c.355A>G (p.Asn119Asp) c.101A>G | |
| X | g.74421992A>T | CA413656316 | SLC16A2 | c.355A>T (p.Asn119Tyr) c.101A>T | |
| X | g.74421993A>C | CA413656317 | SLC16A2 | c.356A>C (p.Asn119Thr) c.102A>C | |
| X | g.74421993A>G | CA413656318 | SLC16A2 | c.356A>G (p.Asn119Ser) c.102A>G | |
| X | g.74421993A>T | CA413656319 | SLC16A2 | c.356A>T (p.Asn119Ile) c.102A>T | |
| X | g.74421993_74421995delinsACT | CA2437472667 | SLC16A2 | c.356_358delinsACT (p.Asn119=) c.102_104delinsACT | |
| X | g.74421994C>A | CA413656320 | SLC16A2 | c.357C>A (p.Asn119Lys) c.103C>A | |
| X | g.74421994C= | CA2437472668 | SLC16A2 | c.357C= (p.Asn119=) c.103C= | |
| X | g.74421994C>G | CA413656321 | SLC16A2 | c.357C>G (p.Asn119Lys) c.103C>G | |
| X | g.74421994C>T | CA517464466 | SLC16A2 | c.357C>T (p.Asn119=) c.103C>T | dbSNP gnomAD v2 |
| X | g.74421996_74421997del | CA658799806 | SLC16A2 | c.359_360del (p.Ser120CysfsTer?) c.105_106del | ClinVar dbSNP |
| X | g.74421995T>A | CA413656322 | SLC16A2 | c.358T>A (p.Ser120Thr) c.104T>A | |
| X | g.74421995T>C | CA413656323 | SLC16A2 | c.358T>C (p.Ser120Pro) c.104T>C | |
| X | g.74421995T>G | CA413656324 | SLC16A2 | c.358T>G (p.Ser120Ala) c.104T>G | |
| X | g.74421996C>A | CA413656326 | SLC16A2 | c.359C>A (p.Ser120Tyr) c.105C>A | |
| X | g.74421996C= | CA2437472669 | SLC16A2 | c.359C= (p.Ser120=) c.105C= | |
| X | g.74421996C>G | CA413656325 | SLC16A2 | c.359C>G (p.Ser120Cys) c.105C>G | |
| X | g.74421996C>T | CA342116 | SLC16A2 | c.359C>T (p.Ser120Phe) c.105C>T | ClinVar dbSNP |
| X | g.74421997T>A | CA517464473 | SLC16A2 | c.360T>A (p.Ser120=) c.106T>A | |
| X | g.74421997T>C | CA517464476 | SLC16A2 | c.360T>C (p.Ser120=) c.106T>C | gnomAD v3 gnomAD v4 |
| X | g.74421997T>G | CA517464475 | SLC16A2 | c.360T>G (p.Ser120=) c.106T>G | |
| X | g.74421998G>A | CA413656329 | SLC16A2 | c.361G>A (p.Val121Ile) c.107G>A | |
| X | g.74421998G>C | CA413656327 | SLC16A2 | c.361G>C (p.Val121Leu) c.107G>C | |
| X | g.74421998G>T | CA413656328 | SLC16A2 | c.361G>T (p.Val121Phe) c.107G>T | gnomAD v3 gnomAD v4 |
| X | g.74421999T>A | CA413656330 | SLC16A2 | c.362T>A (p.Val121Asp) c.108T>A | |
| X | g.74421999T>C | CA413656331 | SLC16A2 | c.362T>C (p.Val121Ala) c.108T>C | |
| X | g.74421999T>G | CA413656332 | SLC16A2 | c.362T>G (p.Val121Gly) c.108T>G | |
| X | g.74422000C>A | CA517464482 | SLC16A2 | c.363C>A (p.Val121=) c.109C>A | |
| X | g.74422000C= | CA2437472670 | SLC16A2 | c.363C= (p.Val121=) c.109C= | |
| X | g.74422000C>G | CA517464483 | SLC16A2 | c.363C>G (p.Val121=) c.109C>G | |
| X | g.74422000C>T | CA10454397 | SLC16A2 | c.363C>T (p.Val121=) c.109C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.74422001G>A | CA413656333 | SLC16A2 | c.364G>A (p.Gly122Arg) c.110G>A | ClinVar |
| X | g.74422001G>C | CA413656334 | SLC16A2 | c.364G>C (p.Gly122Arg) c.110G>C | |
| X | g.74422001G>T | CA413656335 | SLC16A2 | c.364G>T (p.Gly122Trp) c.110G>T | |
| X | g.74422002G>A | CA413656336 | SLC16A2 | c.365G>A (p.Gly122Glu) c.111G>A | |
| X | g.74422002G>C | CA413656337 | SLC16A2 | c.365G>C (p.Gly122Ala) c.111G>C | |
| X | g.74422002G>T | CA413656338 | SLC16A2 | c.365G>T (p.Gly122Val) c.111G>T | |
| X | g.74422003G>A | CA517464490 | SLC16A2 | c.366G>A (p.Gly122=) c.112G>A | |
| X | g.74422003G>C | CA517464491 | SLC16A2 | c.366G>C (p.Gly122=) c.112G>C | |
| X | g.74422003G>T | CA517464492 | SLC16A2 | c.366G>T (p.Gly122=) c.112G>T | |
| X | g.74422004A= | CA2437472671 | SLC16A2 | c.367A= (p.Ile123=) c.113A= | |
| X | g.74422004A>C | CA413656341 | SLC16A2 | c.367A>C (p.Ile123Leu) c.113A>C | |
| X | g.74422004A>G | CA413656340 | SLC16A2 | c.367A>G (p.Ile123Val) c.113A>G | |
| X | g.74422004A>T | CA413656339 | SLC16A2 | c.367A>T (p.Ile123Phe) c.113A>T | dbSNP |
| X | g.74422005T>A | CA413656342 | SLC16A2 | c.368T>A (p.Ile123Asn) c.114T>A | |
| X | g.74422005T>C | CA413656343 | SLC16A2 | c.368T>C (p.Ile123Thr) c.114T>C | |
| X | g.74422005T>G | CA413656344 | SLC16A2 | c.368T>G (p.Ile123Ser) c.114T>G | |
| X | g.74422008_74422015del | CA2695234499 | SLC16A2 | c.371_378del (p.Leu124HisfsTer?) c.117_124del | |
| X | g.74422006C>A | CA517464501 | SLC16A2 | c.369C>A (p.Ile123=) c.115C>A | |
| X | g.74422006C>G | CA413656345 | SLC16A2 | c.369C>G (p.Ile123Met) c.115C>G | gnomAD v4 |
| X | g.74422006C>T | CA517464505 | SLC16A2 | c.369C>T (p.Ile123=) c.115C>T | gnomAD v3 gnomAD v4 |
| X | g.74422007C>A | CA413656346 | SLC16A2 | c.370C>A (p.Leu124Ile) c.116C>A | |
| X | g.74422007C>G | CA413656347 | SLC16A2 | c.370C>G (p.Leu124Val) c.116C>G | |
| X | g.74422007C>T | CA413656348 | SLC16A2 | c.370C>T (p.Leu124Phe) c.116C>T | gnomAD v4 |
| X | g.74422009_74422010dup | CA2695234500 | SLC16A2 | c.372_373dup (p.Tyr125SerfsTer6) c.118_119dup | |
| X | g.74422008T>A | CA413656349 | SLC16A2 | c.371T>A (p.Leu124His) c.117T>A | |
| X | g.74422008T>C | CA413656350 | SLC16A2 | c.371T>C (p.Leu124Pro) c.117T>C | |
| X | g.74422008T>G | CA413656351 | SLC16A2 | c.371T>G (p.Leu124Arg) c.117T>G | |
| X | g.74422009C>A | CA517464515 | SLC16A2 | c.372C>A (p.Leu124=) c.118C>A | |
| X | g.74422009C>G | CA517464517 | SLC16A2 | c.372C>G (p.Leu124=) c.118C>G | gnomAD v4 |
| X | g.74422009C>T | CA517464518 | SLC16A2 | c.372C>T (p.Leu124=) c.118C>T | gnomAD v4 |
| X | g.74422010T>A | CA413656352 | SLC16A2 | c.373T>A (p.Tyr125Asn) c.119T>A | |
| X | g.74422010T>C | CA413656353 | SLC16A2 | c.373T>C (p.Tyr125His) c.119T>C | |
| X | g.74422010T>G | CA413656354 | SLC16A2 | c.373T>G (p.Tyr125Asp) c.119T>G | |
| X | g.74422010_74422011delinsTA | CA2437472672 | SLC16A2 | c.373_374delinsTA (p.Tyr125=) c.119_120delinsTA | |
| X | g.74422011del | CA277240 | SLC16A2 | c.374del (p.Tyr125SerfsTer5) c.120del | ClinVar dbSNP |
| X | g.74422011A>C | CA413656355 | SLC16A2 | c.374A>C (p.Tyr125Ser) c.120A>C | |
| X | g.74422011A>G | CA413656356 | SLC16A2 | c.374A>G (p.Tyr125Cys) c.120A>G | |
| X | g.74422011A>T | CA413656357 | SLC16A2 | c.374A>T (p.Tyr125Phe) c.120A>T | |
| X | g.74422012C>A | CA413656359 | SLC16A2 | c.375C>A (p.Tyr125Ter) c.121C>A | |
| X | g.74422012C>G | CA413656358 | SLC16A2 | c.375C>G (p.Tyr125Ter) c.121C>G | |
| X | g.74422012C>T | CA517464527 | SLC16A2 | c.375C>T (p.Tyr125=) c.121C>T | gnomAD v4 |
| X | g.74422013T>A | CA413656360 | SLC16A2 | c.376T>A (p.Ser126Thr) c.122T>A | |
| X | g.74422013T>C | CA413656361 | SLC16A2 | c.376T>C (p.Ser126Pro) c.122T>C | |
| X | g.74422013T>G | CA413656362 | SLC16A2 | c.376T>G (p.Ser126Ala) c.122T>G | gnomAD v4 |
| X | g.74422014C>A | CA413656363 | SLC16A2 | c.377C>A (p.Ser126Tyr) c.123C>A | ClinVar dbSNP |
| X | g.74422014C= | CA2437472673 | SLC16A2 | c.377C= (p.Ser126=) c.123C= | |
| X | g.74422014C>G | CA413656364 | SLC16A2 | c.377C>G (p.Ser126Cys) c.123C>G | |
| X | g.74422014C>T | CA413656365 | SLC16A2 | c.377C>T (p.Ser126Phe) c.123C>T | |
| X | g.74422015C>A | CA517464532 | SLC16A2 | c.378C>A (p.Ser126=) c.124C>A | |
| X | g.74422015C>G | CA517464537 | SLC16A2 | c.378C>G (p.Ser126=) c.124C>G | |
| X | g.74422015C>T | CA517464533 | SLC16A2 | c.378C>T (p.Ser126=) c.124C>T | |
| X | g.74422016A>C | CA413656366 | SLC16A2 | c.379A>C (p.Met127Leu) c.125A>C | |
| X | g.74422016A>G | CA413656367 | SLC16A2 | c.379A>G (p.Met127Val) c.125A>G | |
| X | g.74422016A>T | CA413656368 | SLC16A2 | c.379A>T (p.Met127Leu) c.125A>T | |
| X | g.74422017T>A | CA413656369 | SLC16A2 | c.380T>A (p.Met127Lys) c.126T>A | |
| X | g.74422017T>C | CA413656370 | SLC16A2 | c.380T>C (p.Met127Thr) c.126T>C | |
| X | g.74422017T>G | CA413656371 | SLC16A2 | c.380T>G (p.Met127Arg) c.126T>G | |
| X | g.74422018G>A | CA413656372 | SLC16A2 | c.381G>A (p.Met127Ile) c.127G>A | |
| X | g.74422018G>C | CA413656374 | SLC16A2 | c.381G>C (p.Met127Ile) c.127G>C | |
| X | g.74422018G>T | CA413656373 | SLC16A2 | c.381G>T (p.Met127Ile) c.127G>T | |
| X | g.74422019C>A | CA413656375 | SLC16A2 | c.382C>A (p.Leu128Met) c.128C>A | |
| X | g.74422019C>G | CA413656376 | SLC16A2 | c.382C>G (p.Leu128Val) c.128C>G | |
| X | g.74422019C>T | CA517464544 | SLC16A2 | c.382C>T (p.Leu128=) c.128C>T | |
| X | g.74422020T>A | CA413656377 | SLC16A2 | c.383T>A (p.Leu128Gln) c.129T>A | |
| X | g.74422020T>C | CA413656378 | SLC16A2 | c.383T>C (p.Leu128Pro) c.129T>C | ClinVar dbSNP |
| X | g.74422020T>G | CA413656379 | SLC16A2 | c.383T>G (p.Leu128Arg) c.129T>G | |
| X | g.74422020T= | CA2437472674 | SLC16A2 | c.383T= (p.Leu128=) c.129T= | |
| X | g.74422021G>A | CA517464546 | SLC16A2 | c.384G>A (p.Leu128=) c.130G>A | |
| X | g.74422021G>C | CA517464548 | SLC16A2 | c.384G>C (p.Leu128=) c.130G>C | |
| X | g.74422021G>T | CA517464556 | SLC16A2 | c.384G>T (p.Leu128=) c.130G>T | gnomAD v4 |
| X | g.74422022C>A | CA413656380 | SLC16A2 | c.385C>A (p.Leu129Ile) c.131C>A | |
| X | g.74422022C= | CA2437472675 | SLC16A2 | c.385C= (p.Leu129=) c.131C= | |
| X | g.74422022C>G | CA413656381 | SLC16A2 | c.385C>G (p.Leu129Val) c.131C>G | |
| X | g.74422022C>T | CA517464557 | SLC16A2 | c.385C>T (p.Leu129=) c.131C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.74422023T>A | CA413656382 | SLC16A2 | c.386T>A (p.Leu129Gln) c.132T>A | |
| X | g.74422023T>C | CA413656383 | SLC16A2 | c.386T>C (p.Leu129Pro) c.132T>C | |
| X | g.74422023T>G | CA413656384 | SLC16A2 | c.386T>G (p.Leu129Arg) c.132T>G | |
| X | g.74422024A>C | CA517464560 | SLC16A2 | c.387A>C (p.Leu129=) c.133A>C | |
| X | g.74422024A>G | CA517464563 | SLC16A2 | c.387A>G (p.Leu129=) c.133A>G | gnomAD v3 gnomAD v4 |
| X | g.74422024A>T | CA517464558 | SLC16A2 | c.387A>T (p.Leu129=) c.133A>T | |
| X | g.74422025G>A | CA413656387 | SLC16A2 | c.388G>A (p.Glu130Lys) c.134G>A | |
| X | g.74422025G>C | CA413656386 | SLC16A2 | c.388G>C (p.Glu130Gln) c.134G>C | gnomAD v3 gnomAD v4 |
| X | g.74422025G>T | CA413656385 | SLC16A2 | c.388G>T (p.Glu130Ter) c.134G>T | |
| X | g.74422026A>C | CA413656388 | SLC16A2 | c.389A>C (p.Glu130Ala) c.135A>C | |
| X | g.74422026A>G | CA413656389 | SLC16A2 | c.389A>G (p.Glu130Gly) c.135A>G | |
| X | g.74422026A>T | CA413656390 | SLC16A2 | c.389A>T (p.Glu130Val) c.135A>T | |
| X | g.74422027G>A | CA517464567 | SLC16A2 | c.390G>A (p.Glu130=) c.136G>A | gnomAD v4 |
| X | g.74422027G>C | CA413656391 | SLC16A2 | c.390G>C (p.Glu130Asp) c.136G>C | |
| X | g.74422027G>T | CA413656392 | SLC16A2 | c.390G>T (p.Glu130Asp) c.136G>T | |
| X | g.74422028G>A | CA413656393 | SLC16A2 | c.391G>A (p.Glu131Lys) c.137G>A | |
| X | g.74422028G>C | CA413656394 | SLC16A2 | c.391G>C (p.Glu131Gln) c.137G>C | |
| X | g.74422028G>T | CA413656395 | SLC16A2 | c.391G>T (p.Glu131Ter) c.137G>T | |
| X | g.74422029A>C | CA413656396 | SLC16A2 | c.392A>C (p.Glu131Ala) c.138A>C | |
| X | g.74422029A>G | CA413656397 | SLC16A2 | c.392A>G (p.Glu131Gly) c.138A>G | |
| X | g.74422029A>T | CA413656398 | SLC16A2 | c.392A>T (p.Glu131Val) c.138A>T |