OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7267417T>A | CA403159160 | INSR | c.580A>T (p.Thr194Ser) n.555A>T c.658A>T (p.Thr220Ser) | |
| 19 | g.7267417T>C | CA403159158 | INSR | c.580A>G (p.Thr194Ala) n.555A>G c.658A>G (p.Thr220Ala) | |
| 19 | g.7267417T>G | CA403159159 | INSR | c.580A>C (p.Thr194Pro) n.555A>C c.658A>C (p.Thr220Pro) | dbSNP |
| 19 | g.7267417T= | CA2320836405 | INSR | c.580A= (p.Thr194=) n.555A= c.658A= (p.Thr220=) | |
| 19 | g.7267418C>A | CA403159161 | INSR | c.579G>T (p.Lys193Asn) n.554G>T c.657G>T (p.Lys219Asn) | |
| 19 | g.7267418C>G | CA403159162 | INSR | c.579G>C (p.Lys193Asn) n.554G>C c.657G>C (p.Lys219Asn) | |
| 19 | g.7267418C>T | CA505481760 | INSR | c.579G>A (p.Lys193=) n.554G>A c.657G>A (p.Lys219=) | |
| 19 | g.7267419T>A | CA403159163 | INSR | c.578A>T (p.Lys193Met) n.553A>T c.656A>T (p.Lys219Met) | |
| 19 | g.7267419T>C | CA403159164 | INSR | c.578A>G (p.Lys193Arg) n.553A>G c.656A>G (p.Lys219Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267419T>G | CA403159165 | INSR | c.578A>C (p.Lys193Thr) n.553A>C c.656A>C (p.Lys219Thr) | |
| 19 | g.7267419T= | CA2320836406 | INSR | c.578A= (p.Lys193=) n.553A= c.656A= (p.Lys219=) | |
| 19 | g.7267420T>A | CA403159166 | INSR | c.577A>T (p.Lys193Ter) n.552A>T c.655A>T (p.Lys219Ter) | |
| 19 | g.7267420T>C | CA403159168 | INSR | c.577A>G (p.Lys193Glu) n.552A>G c.655A>G (p.Lys219Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267420T>G | CA403159167 | INSR | c.577A>C (p.Lys193Gln) n.552A>C c.655A>C (p.Lys219Gln) | |
| 19 | g.7267420T= | CA2320836407 | INSR | c.577A= (p.Lys193=) n.552A= c.655A= (p.Lys219=) | |
| 19 | g.7267421G>A | CA505481763 | INSR | c.576C>T (p.Gly192=) n.551C>T c.654C>T (p.Gly218=) | |
| 19 | g.7267421G>C | CA505481761 | INSR | c.576C>G (p.Gly192=) n.551C>G c.654C>G (p.Gly218=) | |
| 19 | g.7267421G>T | CA505481762 | INSR | c.576C>A (p.Gly192=) n.551C>A c.654C>A (p.Gly218=) | |
| 19 | g.7267422C>A | CA403159169 | INSR | c.575G>T (p.Gly192Val) n.550G>T c.653G>T (p.Gly218Val) | |
| 19 | g.7267422C= | CA2320836408 | INSR | c.575G= (p.Gly192=) n.550G= c.653G= (p.Gly218=) | |
| 19 | g.7267422C>G | CA403159170 | INSR | c.575G>C (p.Gly192Ala) n.550G>C c.653G>C (p.Gly218Ala) | |
| 19 | g.7267422C>T | CA9136105 | INSR | c.575G>A (p.Gly192Asp) n.550G>A c.653G>A (p.Gly218Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267423C>A | CA403159171 | INSR | c.574G>T (p.Gly192Cys) n.549G>T c.652G>T (p.Gly218Cys) | |
| 19 | g.7267423C>G | CA403159172 | INSR | c.574G>C (p.Gly192Arg) n.549G>C c.652G>C (p.Gly218Arg) | |
| 19 | g.7267423C>T | CA403159173 | INSR | c.574G>A (p.Gly192Ser) n.549G>A c.652G>A (p.Gly218Ser) | |
| 19 | g.7267424C>A | CA403159174 | INSR | c.573G>T (p.Lys191Asn) n.548G>T c.651G>T (p.Lys217Asn) | |
| 19 | g.7267424C>G | CA403159175 | INSR | c.573G>C (p.Lys191Asn) n.548G>C c.651G>C (p.Lys217Asn) | |
| 19 | g.7267424C>T | CA505481764 | INSR | c.573G>A (p.Lys191=) n.548G>A c.651G>A (p.Lys217=) | gnomAD v4 COSMIC COSMIC |
| 19 | g.7267425T>A | CA403159176 | INSR | c.572A>T (p.Lys191Met) n.547A>T c.650A>T (p.Lys217Met) | |
| 19 | g.7267425T>C | CA403159177 | INSR | c.572A>G (p.Lys191Arg) n.547A>G c.650A>G (p.Lys217Arg) | |
| 19 | g.7267425T>G | CA403159178 | INSR | c.572A>C (p.Lys191Thr) n.547A>C c.650A>C (p.Lys217Thr) | |
| 19 | g.7267426T>A | CA403159180 | INSR | c.571A>T (p.Lys191Ter) n.546A>T c.649A>T (p.Lys217Ter) | |
| 19 | g.7267426T>C | CA403159181 | INSR | c.571A>G (p.Lys191Glu) n.546A>G c.649A>G (p.Lys217Glu) | gnomAD v4 |
| 19 | g.7267426T>G | CA403159179 | INSR | c.571A>C (p.Lys191Gln) n.546A>C c.649A>C (p.Lys217Gln) | |
| 19 | g.7267427C>A | CA505481767 | INSR | c.570G>T (p.Ala190=) n.545G>T c.648G>T (p.Ala216=) | gnomAD v4 |
| 19 | g.7267427C= | CA2320836409 | INSR | c.570G= (p.Ala190=) n.545G= c.648G= (p.Ala216=) | |
| 19 | g.7267427C>G | CA505481765 | INSR | c.570G>C (p.Ala190=) n.545G>C c.648G>C (p.Ala216=) | |
| 19 | g.7267427C>T | CA505481766 | INSR | c.570G>A (p.Ala190=) n.545G>A c.648G>A (p.Ala216=) | dbSNP gnomAD v4 |
| 19 | g.7267428G>A | CA403159182 | INSR | c.569C>T (p.Ala190Val) n.544C>T c.647C>T (p.Ala216Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267428G>C | CA403159184 | INSR | c.569C>G (p.Ala190Gly) n.544C>G c.647C>G (p.Ala216Gly) | |
| 19 | g.7267428G= | CA2320836410 | INSR | c.569C= (p.Ala190=) n.544C= c.647C= (p.Ala216=) | |
| 19 | g.7267428G>T | CA403159183 | INSR | c.569C>A (p.Ala190Glu) n.544C>A c.647C>A (p.Ala216Glu) | gnomAD v4 |
| 19 | g.7267429C>A | CA403159185 | INSR | c.568G>T (p.Ala190Ser) n.543G>T c.646G>T (p.Ala216Ser) | |
| 19 | g.7267429C= | CA2320836411 | INSR | c.568G= (p.Ala190=) n.543G= c.646G= (p.Ala216=) | |
| 19 | g.7267429C>G | CA403159186 | INSR | c.568G>C (p.Ala190Pro) n.543G>C c.646G>C (p.Ala216Pro) | |
| 19 | g.7267429C>T | CA403159187 | INSR | c.568G>A (p.Ala190Thr) n.543G>A c.646G>A (p.Ala216Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267430G>A | CA9136106 | INSR | c.567C>T (p.Thr189=) n.542C>T c.645C>T (p.Thr215=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.7267430G>C | CA9136107 | INSR | c.567C>G (p.Thr189=) n.542C>G c.645C>G (p.Thr215=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267430G= | CA2320836412 | INSR | c.567C= (p.Thr189=) n.542C= c.645C= (p.Thr215=) | |
| 19 | g.7267430G>T | CA505481768 | INSR | c.567C>A (p.Thr189=) n.542C>A c.645C>A (p.Thr215=) | gnomAD v4 |
| 19 | g.7267431G>A | CA403159188 | INSR | c.566C>T (p.Thr189Ile) n.541C>T c.644C>T (p.Thr215Ile) | |
| 19 | g.7267431G>C | CA403159189 | INSR | c.566C>G (p.Thr189Ser) n.541C>G c.644C>G (p.Thr215Ser) | |
| 19 | g.7267431G>T | CA403159190 | INSR | c.566C>A (p.Thr189Asn) n.541C>A c.644C>A (p.Thr215Asn) | |
| 19 | g.7267432T>A | CA403159191 | INSR | c.565A>T (p.Thr189Ser) n.540A>T c.643A>T (p.Thr215Ser) | |
| 19 | g.7267432T>C | CA403159192 | INSR | c.565A>G (p.Thr189Ala) n.540A>G c.643A>G (p.Thr215Ala) | gnomAD v4 |
| 19 | g.7267432T>G | CA403159193 | INSR | c.565A>C (p.Thr189Pro) n.540A>C c.643A>C (p.Thr215Pro) | |
| 19 | g.7267433A>C | CA505481771 | INSR | c.564T>G (p.Gly188=) n.539T>G c.642T>G (p.Gly214=) | |
| 19 | g.7267433A>G | CA505481769 | INSR | c.564T>C (p.Gly188=) n.539T>C c.642T>C (p.Gly214=) | |
| 19 | g.7267433A>T | CA505481770 | INSR | c.564T>A (p.Gly188=) n.539T>A c.642T>A (p.Gly214=) | |
| 19 | g.7267434C>A | CA403159195 | INSR | c.563G>T (p.Gly188Val) n.538G>T c.641G>T (p.Gly214Val) | gnomAD v4 |
| 19 | g.7267434C= | CA2320836413 | INSR | c.563G= (p.Gly188=) n.538G= c.641G= (p.Gly214=) | |
| 19 | g.7267434C>G | CA304647730 | INSR | c.563G>C (p.Gly188Ala) n.538G>C c.641G>C (p.Gly214Ala) | dbSNP gnomAD v4 |
| 19 | g.7267434C>T | CA403159194 | INSR | c.563G>A (p.Gly188Asp) n.538G>A c.641G>A (p.Gly214Asp) | |
| 19 | g.7267435C>A | CA403159196 | INSR | c.562G>T (p.Gly188Cys) n.537G>T c.640G>T (p.Gly214Cys) | |
| 19 | g.7267435C= | CA2320836414 | INSR | c.562G= (p.Gly188=) n.537G= c.640G= (p.Gly214=) | |
| 19 | g.7267435C>G | CA403159197 | INSR | c.562G>C (p.Gly188Arg) n.537G>C c.640G>C (p.Gly214Arg) | |
| 19 | g.7267435C>T | CA403159198 | INSR | c.562G>A (p.Gly188Ser) n.537G>A c.640G>A (p.Gly214Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267436C>A | CA505481772 | INSR | c.561G>T (p.Pro187=) n.536G>T c.639G>T (p.Pro213=) | |
| 19 | g.7267436C= | CA2320836415 | INSR | c.561G= (p.Pro187=) n.536G= c.639G= (p.Pro213=) | |
| 19 | g.7267436C>G | CA505481773 | INSR | c.561G>C (p.Pro187=) n.536G>C c.639G>C (p.Pro213=) | |
| 19 | g.7267436C>T | CA304647742 | INSR | c.561G>A (p.Pro187=) n.536G>A c.639G>A (p.Pro213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7267437G>A | CA403159199 | INSR | c.560C>T (p.Pro187Leu) n.535C>T c.638C>T (p.Pro213Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.7267437G>C | CA403159200 | INSR | c.560C>G (p.Pro187Arg) n.535C>G c.638C>G (p.Pro213Arg) | |
| 19 | g.7267437G= | CA2320836416 | INSR | c.560C= (p.Pro187=) n.535C= c.638C= (p.Pro213=) | |
| 19 | g.7267437G>T | CA403159201 | INSR | c.560C>A (p.Pro187Gln) n.535C>A c.638C>A (p.Pro213Gln) | |
| 19 | g.7267438G>A | CA304647754 | INSR | c.559C>T (p.Pro187Ser) n.534C>T c.637C>T (p.Pro213Ser) | dbSNP COSMIC COSMIC |
| 19 | g.7267438G>C | CA403159202 | INSR | c.559C>G (p.Pro187Ala) n.534C>G c.637C>G (p.Pro213Ala) | |
| 19 | g.7267438G= | CA2320836417 | INSR | c.559C= (p.Pro187=) n.534C= c.637C= (p.Pro213=) | |
| 19 | g.7267438G>T | CA403159203 | INSR | c.559C>A (p.Pro187Thr) n.534C>A c.637C>A (p.Pro213Thr) | |
| 19 | g.7267439A>C | CA403159204 | INSR | c.558T>G (p.Cys186Trp) n.533T>G c.636T>G (p.Cys212Trp) | |
| 19 | g.7267439A>G | CA505481774 | INSR | c.558T>C (p.Cys186=) n.533T>C c.636T>C (p.Cys212=) | |
| 19 | g.7267439A>T | CA403159205 | INSR | c.558T>A (p.Cys186Ter) n.533T>A c.636T>A (p.Cys212Ter) | |
| 19 | g.7267440C>A | CA403159208 | INSR | c.557G>T (p.Cys186Phe) n.532G>T c.635G>T (p.Cys212Phe) | |
| 19 | g.7267440C>G | CA403159207 | INSR | c.557G>C (p.Cys186Ser) n.532G>C c.635G>C (p.Cys212Ser) | |
| 19 | g.7267440C>T | CA403159206 | INSR | c.557G>A (p.Cys186Tyr) n.532G>A c.635G>A (p.Cys212Tyr) | |
| 19 | g.7267441A>C | CA403159209 | INSR | c.556T>G (p.Cys186Gly) n.531T>G c.634T>G (p.Cys212Gly) | |
| 19 | g.7267441A>G | CA403159210 | INSR | c.556T>C (p.Cys186Arg) n.531T>C c.634T>C (p.Cys212Arg) | |
| 19 | g.7267441A>T | CA403159211 | INSR | c.556T>A (p.Cys186Ser) n.531T>A c.634T>A (p.Cys212Ser) | |
| 19 | g.7267442G>A | CA505481775 | INSR | c.555C>T (p.Ile185=) n.530C>T c.633C>T (p.Ile211=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267442G>C | CA403159212 | INSR | c.555C>G (p.Ile185Met) n.530C>G c.633C>G (p.Ile211Met) | |
| 19 | g.7267442G= | CA2320836418 | INSR | c.555C= (p.Ile185=) n.530C= c.633C= (p.Ile211=) | |
| 19 | g.7267442G>T | CA505481776 | INSR | c.555C>A (p.Ile185=) n.530C>A c.633C>A (p.Ile211=) | |
| 19 | g.7267443A= | CA2320836419 | INSR | c.554T= (p.Ile185=) n.529T= c.632T= (p.Ile211=) | |
| 19 | g.7267443A>C | CA403159213 | INSR | c.554T>G (p.Ile185Ser) n.529T>G c.632T>G (p.Ile211Ser) | |
| 19 | g.7267443A>G | CA403159214 | INSR | c.554T>C (p.Ile185Thr) n.529T>C c.632T>C (p.Ile211Thr) | gnomAD v4 |
| 19 | g.7267443A>T | CA403159215 | INSR | c.554T>A (p.Ile185Asn) n.529T>A c.632T>A (p.Ile211Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267444T>A | CA403159216 | INSR | c.553A>T (p.Ile185Phe) n.528A>T c.631A>T (p.Ile211Phe) | |
| 19 | g.7267444T>C | CA9136108 | INSR | c.553A>G (p.Ile185Val) n.528A>G c.631A>G (p.Ile211Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267444T>G | CA403159217 | INSR | c.553A>C (p.Ile185Leu) n.528A>C c.631A>C (p.Ile211Leu) | |
| 19 | g.7267444T= | CA2320836420 | INSR | c.553A= (p.Ile185=) n.528A= c.631A= (p.Ile211=) | |
| 19 | g.7267445G>A | CA9136109 | INSR | c.552C>T (p.Asp184=) n.527C>T c.630C>T (p.Asp210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267445G>C | CA403159218 | INSR | c.552C>G (p.Asp184Glu) n.527C>G c.630C>G (p.Asp210Glu) | |
| 19 | g.7267445G= | CA2320836421 | INSR | c.552C= (p.Asp184=) n.527C= c.630C= (p.Asp210=) | |
| 19 | g.7267445G>T | CA403159219 | INSR | c.552C>A (p.Asp184Glu) n.527C>A c.630C>A (p.Asp210Glu) | |
| 19 | g.7267446T>A | CA403159220 | INSR | c.551A>T (p.Asp184Val) n.526A>T c.629A>T (p.Asp210Val) | |
| 19 | g.7267446T>C | CA403159222 | INSR | c.551A>G (p.Asp184Gly) n.526A>G c.629A>G (p.Asp210Gly) | |
| 19 | g.7267446T>G | CA403159221 | INSR | c.551A>C (p.Asp184Ala) n.526A>C c.629A>C (p.Asp210Ala) | |
| 19 | g.7267447C>A | CA403159223 | INSR | c.550G>T (p.Asp184Tyr) n.525G>T c.628G>T (p.Asp210Tyr) | |
| 19 | g.7267447C>G | CA403159224 | INSR | c.550G>C (p.Asp184His) n.525G>C c.628G>C (p.Asp210His) | |
| 19 | g.7267447C>T | CA403159225 | INSR | c.550G>A (p.Asp184Asn) n.525G>A c.628G>A (p.Asp210Asn) | |
| 19 | g.7267448T>A | CA505481777 | INSR | c.549A>T (p.Gly183=) n.524A>T c.627A>T (p.Gly209=) | |
| 19 | g.7267448T>C | CA505481778 | INSR | c.549A>G (p.Gly183=) n.524A>G c.627A>G (p.Gly209=) | |
| 19 | g.7267448T>G | CA505481779 | INSR | c.549A>C (p.Gly183=) n.524A>C c.627A>C (p.Gly209=) | |
| 19 | g.7267449C>A | CA403159226 | INSR | c.548G>T (p.Gly183Val) n.523G>T c.626G>T (p.Gly209Val) | |
| 19 | g.7267449C>G | CA403159227 | INSR | c.548G>C (p.Gly183Ala) n.523G>C c.626G>C (p.Gly209Ala) | |
| 19 | g.7267449C>T | CA403159228 | INSR | c.548G>A (p.Gly183Glu) n.523G>A c.626G>A (p.Gly209Glu) | |
| 19 | g.7267450C>A | CA403159229 | INSR | c.547G>T (p.Gly183Ter) n.522G>T c.625G>T (p.Gly209Ter) | |
| 19 | g.7267450C>G | CA403159230 | INSR | c.547G>C (p.Gly183Arg) n.522G>C c.625G>C (p.Gly209Arg) | gnomAD v4 |
| 19 | g.7267450C>T | CA403159231 | INSR | c.547G>A (p.Gly183Arg) n.522G>A c.625G>A (p.Gly209Arg) | |
| 19 | g.7267451A= | CA2320836422 | INSR | c.546T= (p.Cys182=) n.521T= c.624T= (p.Cys208=) | |
| 19 | g.7267451A>C | CA403159232 | INSR | c.546T>G (p.Cys182Trp) n.521T>G c.624T>G (p.Cys208Trp) | |
| 19 | g.7267451A>G | CA505481780 | INSR | c.546T>C (p.Cys182=) n.521T>C c.624T>C (p.Cys208=) | dbSNP |
| 19 | g.7267451A>T | CA403159233 | INSR | c.546T>A (p.Cys182Ter) n.521T>A c.624T>A (p.Cys208Ter) | |
| 19 | g.7267452C>A | CA403159235 | INSR | c.545G>T (p.Cys182Phe) n.520G>T c.623G>T (p.Cys208Phe) | |
| 19 | g.7267452C>G | CA403159236 | INSR | c.545G>C (p.Cys182Ser) n.520G>C c.623G>C (p.Cys208Ser) | |
| 19 | g.7267452C>T | CA403159234 | INSR | c.545G>A (p.Cys182Tyr) n.520G>A c.623G>A (p.Cys208Tyr) | |
| 19 | g.7267453A>C | CA403159237 | INSR | c.544T>G (p.Cys182Gly) n.519T>G c.622T>G (p.Cys208Gly) | |
| 19 | g.7267453A>G | CA403159238 | INSR | c.544T>C (p.Cys182Arg) n.519T>C c.622T>C (p.Cys208Arg) | |
| 19 | g.7267453A>T | CA403159239 | INSR | c.544T>A (p.Cys182Ser) n.519T>A c.622T>A (p.Cys208Ser) | |
| 19 | g.7267454C>A | CA403159240 | INSR | c.543G>T (p.Glu181Asp) n.518G>T c.621G>T (p.Glu207Asp) | |
| 19 | g.7267454C= | CA2320836423 | INSR | c.543G= (p.Glu181=) n.518G= c.621G= (p.Glu207=) | |
| 19 | g.7267454C>G | CA403159241 | INSR | c.543G>C (p.Glu181Asp) n.518G>C c.621G>C (p.Glu207Asp) | |
| 19 | g.7267454C>T | CA505481781 | INSR | c.543G>A (p.Glu181=) n.518G>A c.621G>A (p.Glu207=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267455T>A | CA403159242 | INSR | c.542A>T (p.Glu181Val) n.517A>T c.620A>T (p.Glu207Val) | |
| 19 | g.7267455T>C | CA403159243 | INSR | c.542A>G (p.Glu181Gly) n.517A>G c.620A>G (p.Glu207Gly) | |
| 19 | g.7267455T>G | CA403159244 | INSR | c.542A>C (p.Glu181Ala) n.517A>C c.620A>C (p.Glu207Ala) | |
| 19 | g.7267456C>A | CA403159245 | INSR | c.541G>T (p.Glu181Ter) n.516G>T c.619G>T (p.Glu207Ter) | |
| 19 | g.7267456C= | CA2320836424 | INSR | c.541G= (p.Glu181=) n.516G= c.619G= (p.Glu207=) | |
| 19 | g.7267456C>G | CA403159246 | INSR | c.541G>C (p.Glu181Gln) n.516G>C c.619G>C (p.Glu207Gln) | |
| 19 | g.7267456C>T | CA403159247 | INSR | c.541G>A (p.Glu181Lys) n.516G>A c.619G>A (p.Glu207Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267457C>A | CA403159248 | INSR | c.540G>T (p.Glu180Asp) n.515G>T c.618G>T (p.Glu206Asp) | |
| 19 | g.7267457C>G | CA403159249 | INSR | c.540G>C (p.Glu180Asp) n.515G>C c.618G>C (p.Glu206Asp) | |
| 19 | g.7267457C>T | CA505481782 | INSR | c.540G>A (p.Glu180=) n.515G>A c.618G>A (p.Glu206=) | |
| 19 | g.7267458T>A | CA403159252 | INSR | c.539A>T (p.Glu180Val) n.514A>T c.617A>T (p.Glu206Val) | |
| 19 | g.7267458T>C | CA403159251 | INSR | c.539A>G (p.Glu180Gly) n.514A>G c.617A>G (p.Glu206Gly) | |
| 19 | g.7267458T>G | CA403159250 | INSR | c.539A>C (p.Glu180Ala) n.514A>C c.617A>C (p.Glu206Ala) | |
| 19 | g.7267459C>A | CA403159253 | INSR | c.538G>T (p.Glu180Ter) n.513G>T c.616G>T (p.Glu206Ter) | |
| 19 | g.7267459C= | CA2320836425 | INSR | c.538G= (p.Glu180=) n.513G= c.616G= (p.Glu206=) | |
| 19 | g.7267459C>G | CA403159254 | INSR | c.538G>C (p.Glu180Gln) n.513G>C c.616G>C (p.Glu206Gln) | |
| 19 | g.7267459C>T | CA403159255 | INSR | c.538G>A (p.Glu180Lys) n.513G>A c.616G>A (p.Glu206Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267460G>A | CA9136110 | INSR | c.537C>T (p.Asn179=) n.512C>T c.615C>T (p.Asn205=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7267460G>C | CA403159256 | INSR | c.537C>G (p.Asn179Lys) n.512C>G c.615C>G (p.Asn205Lys) | |
| 19 | g.7267460G= | CA2320836426 | INSR | c.537C= (p.Asn179=) n.512C= c.615C= (p.Asn205=) | |
| 19 | g.7267460G>T | CA403159257 | INSR | c.537C>A (p.Asn179Lys) n.512C>A c.615C>A (p.Asn205Lys) | |
| 19 | g.7267461T>A | CA403159258 | INSR | c.536A>T (p.Asn179Ile) n.511A>T c.614A>T (p.Asn205Ile) | |
| 19 | g.7267461T>C | CA403159259 | INSR | c.536A>G (p.Asn179Ser) n.511A>G c.614A>G (p.Asn205Ser) | |
| 19 | g.7267461T>G | CA403159260 | INSR | c.536A>C (p.Asn179Thr) n.511A>C c.614A>C (p.Asn205Thr) | |
| 19 | g.7267462T>A | CA403159261 | INSR | c.535A>T (p.Asn179Tyr) n.510A>T c.613A>T (p.Asn205Tyr) | |
| 19 | g.7267462T>C | CA403159262 | INSR | c.535A>G (p.Asn179Asp) n.510A>G c.613A>G (p.Asn205Asp) | dbSNP |
| 19 | g.7267462T>G | CA403159263 | INSR | c.535A>C (p.Asn179His) n.510A>C c.613A>C (p.Asn205His) | gnomAD v4 |
| 19 | g.7267462T= | CA2320836427 | INSR | c.535A= (p.Asn179=) n.510A= c.613A= (p.Asn205=) | |
| 19 | g.7267463G>A | CA505481783 | INSR | c.534C>T (p.Asp178=) n.509C>T c.612C>T (p.Asp204=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267463G>C | CA403159264 | INSR | c.534C>G (p.Asp178Glu) n.509C>G c.612C>G (p.Asp204Glu) | |
| 19 | g.7267463G= | CA2320836428 | INSR | c.534C= (p.Asp178=) n.509C= c.612C= (p.Asp204=) | |
| 19 | g.7267463G>T | CA403159265 | INSR | c.534C>A (p.Asp178Glu) n.509C>A c.612C>A (p.Asp204Glu) | |
| 19 | g.7267464T>A | CA403159268 | INSR | c.533A>T (p.Asp178Val) n.508A>T c.611A>T (p.Asp204Val) | |
| 19 | g.7267464T>C | CA403159267 | INSR | c.533A>G (p.Asp178Gly) n.508A>G c.611A>G (p.Asp204Gly) | |
| 19 | g.7267464T>G | CA403159266 | INSR | c.533A>C (p.Asp178Ala) n.508A>C c.611A>C (p.Asp204Ala) | |
| 19 | g.7267465C>A | CA403159269 | INSR | c.532G>T (p.Asp178Tyr) n.507G>T c.610G>T (p.Asp204Tyr) | |
| 19 | g.7267465C>G | CA403159270 | INSR | c.532G>C (p.Asp178His) n.507G>C c.610G>C (p.Asp204His) | |
| 19 | g.7267465C>T | CA403159271 | INSR | c.532G>A (p.Asp178Asn) n.507G>A c.610G>A (p.Asp204Asn) | |
| 19 | g.7267466A>C | CA403159272 | INSR | c.531T>G (p.Asp177Glu) n.506T>G c.609T>G (p.Asp203Glu) | |
| 19 | g.7267466A>G | CA505481784 | INSR | c.531T>C (p.Asp177=) n.506T>C c.609T>C (p.Asp203=) | |
| 19 | g.7267466A>T | CA403159273 | INSR | c.531T>A (p.Asp177Glu) n.506T>A c.609T>A (p.Asp203Glu) | gnomAD v4 |
| 19 | g.7267467T>A | CA403159274 | INSR | c.530A>T (p.Asp177Val) n.505A>T c.608A>T (p.Asp203Val) | |
| 19 | g.7267467T>C | CA403159275 | INSR | c.530A>G (p.Asp177Gly) n.505A>G c.608A>G (p.Asp203Gly) | |
| 19 | g.7267467T>G | CA403159276 | INSR | c.530A>C (p.Asp177Ala) n.505A>C c.608A>C (p.Asp203Ala) | |
| 19 | g.7267468C>A | CA403159277 | INSR | c.529G>T (p.Asp177Tyr) n.504G>T c.607G>T (p.Asp203Tyr) | |
| 19 | g.7267468C>G | CA403159278 | INSR | c.529G>C (p.Asp177His) n.504G>C c.607G>C (p.Asp203His) | |
| 19 | g.7267468C>T | CA403159279 | INSR | c.529G>A (p.Asp177Asn) n.504G>A c.607G>A (p.Asp203Asn) | |
| 19 | g.7267469T>A | CA403159280 | INSR | c.528A>T (p.Lys176Asn) n.503A>T c.606A>T (p.Lys202Asn) | |
| 19 | g.7267469T>C | CA505481785 | INSR | c.528A>G (p.Lys176=) n.503A>G c.606A>G (p.Lys202=) | |
| 19 | g.7267469T>G | CA403159281 | INSR | c.528A>C (p.Lys176Asn) n.503A>C c.606A>C (p.Lys202Asn) | |
| 19 | g.7267470T>A | CA403159284 | INSR | c.527A>T (p.Lys176Ile) n.502A>T c.605A>T (p.Lys202Ile) | |
| 19 | g.7267470T>C | CA403159283 | INSR | c.527A>G (p.Lys176Arg) n.502A>G c.605A>G (p.Lys202Arg) | |
| 19 | g.7267470T>G | CA403159282 | INSR | c.527A>C (p.Lys176Thr) n.502A>C c.605A>C (p.Lys202Thr) | |
| 19 | g.7267471T>A | CA403159285 | INSR | c.526A>T (p.Lys176Ter) n.501A>T c.604A>T (p.Lys202Ter) | |
| 19 | g.7267471T>C | CA403159286 | INSR | c.526A>G (p.Lys176Glu) n.501A>G c.604A>G (p.Lys202Glu) | |
| 19 | g.7267471T>G | CA403159287 | INSR | c.526A>C (p.Lys176Gln) n.501A>C c.604A>C (p.Lys202Gln) | |
| 19 | g.7267472G>A | CA505481786 | INSR | c.525C>T (p.Asn175=) n.500C>T c.603C>T (p.Asn201=) | |
| 19 | g.7267472G>C | CA403159288 | INSR | c.525C>G (p.Asn175Lys) n.500C>G c.603C>G (p.Asn201Lys) | |
| 19 | g.7267472G>T | CA403159289 | INSR | c.525C>A (p.Asn175Lys) n.500C>A c.603C>A (p.Asn201Lys) | COSMIC |
| 19 | g.7267473T>A | CA403159290 | INSR | c.524A>T (p.Asn175Ile) n.499A>T c.602A>T (p.Asn201Ile) | |
| 19 | g.7267473T>C | CA403159291 | INSR | c.524A>G (p.Asn175Ser) n.499A>G c.602A>G (p.Asn201Ser) | |
| 19 | g.7267473T>G | CA403159292 | INSR | c.524A>C (p.Asn175Thr) n.499A>C c.602A>C (p.Asn201Thr) | |
| 19 | g.7267474T>A | CA403159293 | INSR | c.523A>T (p.Asn175Tyr) n.498A>T c.601A>T (p.Asn201Tyr) | |
| 19 | g.7267474T>C | CA403159294 | INSR | c.523A>G (p.Asn175Asp) n.498A>G c.601A>G (p.Asn201Asp) | |
| 19 | g.7267474T>G | CA403159295 | INSR | c.523A>C (p.Asn175His) n.498A>C c.601A>C (p.Asn201His) | |
| 19 | g.7267475C>A | CA403159296 | INSR | c.522G>T (p.Leu174Phe) n.497G>T c.600G>T (p.Leu200Phe) | |
| 19 | g.7267475C>G | CA403159297 | INSR | c.522G>C (p.Leu174Phe) n.497G>C c.600G>C (p.Leu200Phe) | |
| 19 | g.7267475C>T | CA505481787 | INSR | c.522G>A (p.Leu174=) n.497G>A c.600G>A (p.Leu200=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267476A>C | CA403159299 | INSR | c.521T>G (p.Leu174Trp) n.496T>G c.599T>G (p.Leu200Trp) | |
| 19 | g.7267476A>G | CA403159300 | INSR | c.521T>C (p.Leu174Ser) n.496T>C c.599T>C (p.Leu200Ser) | gnomAD v4 |
| 19 | g.7267476A>T | CA403159298 | INSR | c.521T>A (p.Leu174Ter) n.496T>A c.599T>A (p.Leu200Ter) | |
| 19 | g.7267477A= | CA2320836429 | INSR | c.520T= (p.Leu174=) n.495T= c.598T= (p.Leu200=) | |
| 19 | g.7267477A>C | CA403159301 | INSR | c.520T>G (p.Leu174Val) n.495T>G c.598T>G (p.Leu200Val) | |
| 19 | g.7267477A>G | CA505481788 | INSR | c.520T>C (p.Leu174=) n.495T>C c.598T>C (p.Leu200=) | dbSNP COSMIC |
| 19 | g.7267477A>T | CA403159302 | INSR | c.520T>A (p.Leu174Met) n.495T>A c.598T>A (p.Leu200Met) | |
| 19 | g.7267478C>A | CA505481791 | INSR | c.519G>T (p.Val173=) n.494G>T c.597G>T (p.Val199=) | |
| 19 | g.7267478C>G | CA505481790 | INSR | c.519G>C (p.Val173=) n.494G>C c.597G>C (p.Val199=) | |
| 19 | g.7267478C>T | CA505481789 | INSR | c.519G>A (p.Val173=) n.494G>A c.597G>A (p.Val199=) | |
| 19 | g.7267479A>C | CA403159303 | INSR | c.518T>G (p.Val173Gly) n.493T>G c.596T>G (p.Val199Gly) | |
| 19 | g.7267479A>G | CA403159304 | INSR | c.518T>C (p.Val173Ala) n.493T>C c.596T>C (p.Val199Ala) | |
| 19 | g.7267479A>T | CA403159305 | INSR | c.518T>A (p.Val173Glu) n.493T>A c.596T>A (p.Val199Glu) | |
| 19 | g.7267480C>A | CA403159306 | INSR | c.517G>T (p.Val173Leu) n.492G>T c.595G>T (p.Val199Leu) | |
| 19 | g.7267480C= | CA2320836430 | INSR | c.517G= (p.Val173=) n.492G= c.595G= (p.Val199=) | |
| 19 | g.7267480C>G | CA403159307 | INSR | c.517G>C (p.Val173Leu) n.492G>C c.595G>C (p.Val199Leu) | dbSNP gnomAD v4 |
| 19 | g.7267480C>T | CA403159308 | INSR | c.517G>A (p.Val173Met) n.492G>A c.595G>A (p.Val199Met) | COSMIC COSMIC |
| 19 | g.7267481G>A | CA505481792 | INSR | c.516C>T (p.Ile172=) n.491C>T c.594C>T (p.Ile198=) | COSMIC COSMIC |
| 19 | g.7267481G>C | CA403159309 | INSR | c.516C>G (p.Ile172Met) n.491C>G c.594C>G (p.Ile198Met) | |
| 19 | g.7267481G= | CA2320836431 | INSR | c.516C= (p.Ile172=) n.491C= c.594C= (p.Ile198=) | |
| 19 | g.7267481G>T | CA505481793 | INSR | c.516C>A (p.Ile172=) n.491C>A c.594C>A (p.Ile198=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267482A= | CA2320836432 | INSR | c.515T= (p.Ile172=) n.490T= c.593T= (p.Ile198=) | |
| 19 | g.7267482A>C | CA403159310 | INSR | c.515T>G (p.Ile172Ser) n.490T>G c.593T>G (p.Ile198Ser) | |
| 19 | g.7267482A>G | CA403159311 | INSR | c.515T>C (p.Ile172Thr) n.490T>C c.593T>C (p.Ile198Thr) | |
| 19 | g.7267482A>T | CA304647782 | INSR | c.515T>A (p.Ile172Asn) n.490T>A c.593T>A (p.Ile198Asn) | dbSNP gnomAD v4 |
| 19 | g.7267483T>A | CA9136111 | INSR | c.514A>T (p.Ile172Phe) n.489A>T c.592A>T (p.Ile198Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267483T>C | CA403159312 | INSR | c.514A>G (p.Ile172Val) n.489A>G c.592A>G (p.Ile198Val) | |
| 19 | g.7267483T>G | CA403159313 | INSR | c.514A>C (p.Ile172Leu) n.489A>C c.592A>C (p.Ile198Leu) | |
| 19 | g.7267483T= | CA2320836433 | INSR | c.514A= (p.Ile172=) n.489A= c.592A= (p.Ile198=) | |
| 19 | g.7267484G>A | CA505481794 | INSR | c.513C>T (p.Tyr171=) n.488C>T c.591C>T (p.Tyr197=) | gnomAD v4 |
| 19 | g.7267484G>C | CA403159314 | INSR | c.513C>G (p.Tyr171Ter) n.488C>G c.591C>G (p.Tyr197Ter) | gnomAD v4 |
| 19 | g.7267484G>T | CA403159315 | INSR | c.513C>A (p.Tyr171Ter) n.488C>A c.591C>A (p.Tyr197Ter) | |
| 19 | g.7267485T>A | CA403159316 | INSR | c.512A>T (p.Tyr171Phe) n.487A>T c.590A>T (p.Tyr197Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267485T>C | CA403159317 | INSR | c.512A>G (p.Tyr171Cys) n.487A>G c.590A>G (p.Tyr197Cys) | |
| 19 | g.7267485T>G | CA403159318 | INSR | c.512A>C (p.Tyr171Ser) n.487A>C c.590A>C (p.Tyr197Ser) | |
| 19 | g.7267485T= | CA2320836434 | INSR | c.512A= (p.Tyr171=) n.487A= c.590A= (p.Tyr197=) | |
| 19 | g.7267486A= | CA2320836435 | INSR | c.511T= (p.Tyr171=) n.486T= c.589T= (p.Tyr197=) | |
| 19 | g.7267486A>C | CA403159319 | INSR | c.511T>G (p.Tyr171Asp) n.486T>G c.589T>G (p.Tyr197Asp) | |
| 19 | g.7267486A>G | CA304647799 | INSR | c.511T>C (p.Tyr171His) n.486T>C c.589T>C (p.Tyr197His) | dbSNP gnomAD v4 |
| 19 | g.7267486A>T | CA403159320 | INSR | c.511T>A (p.Tyr171Asn) n.486T>A c.589T>A (p.Tyr197Asn) | |
| 19 | g.7267487A>C | CA403159321 | INSR | c.510T>G (p.Asn170Lys) n.485T>G c.588T>G (p.Asn196Lys) | |
| 19 | g.7267487A>G | CA505481795 | INSR | c.510T>C (p.Asn170=) n.485T>C c.588T>C (p.Asn196=) | |
| 19 | g.7267487A>T | CA403159322 | INSR | c.510T>A (p.Asn170Lys) n.485T>A c.588T>A (p.Asn196Lys) | |
| 19 | g.7267488T>A | CA403159323 | INSR | c.509A>T (p.Asn170Ile) n.484A>T c.587A>T (p.Asn196Ile) | |
| 19 | g.7267488T>C | CA403159324 | INSR | c.509A>G (p.Asn170Ser) n.484A>G c.587A>G (p.Asn196Ser) | |
| 19 | g.7267488T>G | CA403159325 | INSR | c.509A>C (p.Asn170Thr) n.484A>C c.587A>C (p.Asn196Thr) | |
| 19 | g.7267489dup | CA2580097055 | INSR | c.509dup (p.Asn170LysfsTer9) n.484dup c.587dup (p.Asn196LysfsTer9) | ClinVar |
| 19 | g.7267489T>A | CA403159327 | INSR | c.508A>T (p.Asn170Tyr) n.483A>T c.586A>T (p.Asn196Tyr) | |
| 19 | g.7267489T>C | CA403159328 | INSR | c.508A>G (p.Asn170Asp) n.483A>G c.586A>G (p.Asn196Asp) | gnomAD v4 |
| 19 | g.7267489T>G | CA403159326 | INSR | c.508A>C (p.Asn170His) n.483A>C c.586A>C (p.Asn196His) | |
| 19 | g.7267490A>C | CA403159329 | INSR | c.507T>G (p.Asp169Glu) n.482T>G c.585T>G (p.Asp195Glu) | |
| 19 | g.7267490A>G | CA505481796 | INSR | c.507T>C (p.Asp169=) n.482T>C c.585T>C (p.Asp195=) | COSMIC COSMIC |
| 19 | g.7267490A>T | CA403159330 | INSR | c.507T>A (p.Asp169Glu) n.482T>A c.585T>A (p.Asp195Glu) | |
| 19 | g.7267491T>A | CA403159331 | INSR | c.506A>T (p.Asp169Val) n.481A>T c.584A>T (p.Asp195Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267491T>C | CA403159332 | INSR | c.506A>G (p.Asp169Gly) n.481A>G c.584A>G (p.Asp195Gly) | |
| 19 | g.7267491T>G | CA403159333 | INSR | c.506A>C (p.Asp169Ala) n.481A>C c.584A>C (p.Asp195Ala) | |
| 19 | g.7267491T= | CA2320836436 | INSR | c.506A= (p.Asp169=) n.481A= c.584A= (p.Asp195=) | |
| 19 | g.7267492C>A | CA403159334 | INSR | c.505G>T (p.Asp169Tyr) n.480G>T c.583G>T (p.Asp195Tyr) | COSMIC COSMIC |
| 19 | g.7267492C>G | CA403159335 | INSR | c.505G>C (p.Asp169His) n.480G>C c.583G>C (p.Asp195His) | |
| 19 | g.7267492C>T | CA403159336 | INSR | c.505G>A (p.Asp169Asn) n.480G>A c.583G>A (p.Asp195Asn) | |
| 19 | g.7267493C>A | CA403159337 | INSR | c.504G>T (p.Glu168Asp) n.479G>T c.582G>T (p.Glu194Asp) | |
| 19 | g.7267493C>G | CA403159338 | INSR | c.504G>C (p.Glu168Asp) n.479G>C c.582G>C (p.Glu194Asp) | |
| 19 | g.7267493C>T | CA505481797 | INSR | c.504G>A (p.Glu168=) n.479G>A c.582G>A (p.Glu194=) | |
| 19 | g.7267494T>A | CA403159339 | INSR | c.503A>T (p.Glu168Val) n.478A>T c.581A>T (p.Glu194Val) | |
| 19 | g.7267494T>C | CA403159340 | INSR | c.503A>G (p.Glu168Gly) n.478A>G c.581A>G (p.Glu194Gly) | gnomAD v4 |
| 19 | g.7267494T>G | CA403159341 | INSR | c.503A>C (p.Glu168Ala) n.478A>C c.581A>C (p.Glu194Ala) | |
| 19 | g.7267495C>A | CA403159344 | INSR | c.502G>T (p.Glu168Ter) n.477G>T c.580G>T (p.Glu194Ter) | |
| 19 | g.7267495C>G | CA403159343 | INSR | c.502G>C (p.Glu168Gln) n.477G>C c.580G>C (p.Glu194Gln) | |
| 19 | g.7267495C>T | CA403159342 | INSR | c.502G>A (p.Glu168Lys) n.477G>A c.580G>A (p.Glu194Lys) | |
| 19 | g.7267496C>A | CA505481798 | INSR | c.501G>T (p.Val167=) n.476G>T c.579G>T (p.Val193=) | |
| 19 | g.7267496C>G | CA505481799 | INSR | c.501G>C (p.Val167=) n.476G>C c.579G>C (p.Val193=) | |
| 19 | g.7267496C>T | CA505481800 | INSR | c.501G>A (p.Val167=) n.476G>A c.579G>A (p.Val193=) | gnomAD v4 |
| 19 | g.7267497A>C | CA403159345 | INSR | c.500T>G (p.Val167Gly) n.475T>G c.578T>G (p.Val193Gly) | |
| 19 | g.7267497A>G | CA403159346 | INSR | c.500T>C (p.Val167Ala) n.475T>C c.578T>C (p.Val193Ala) | |
| 19 | g.7267497A>T | CA403159347 | INSR | c.500T>A (p.Val167Glu) n.475T>A c.578T>A (p.Val193Glu) | |
| 19 | g.7267498C>A | CA403159348 | INSR | c.499G>T (p.Val167Leu) n.474G>T c.577G>T (p.Val193Leu) | dbSNP gnomAD v4 |
| 19 | g.7267498C= | CA2320836437 | INSR | c.499G= (p.Val167=) n.474G= c.577G= (p.Val193=) | |
| 19 | g.7267498C>G | CA403159349 | INSR | c.499G>C (p.Val167Leu) n.474G>C c.577G>C (p.Val193Leu) | gnomAD v4 |
| 19 | g.7267498C>T | CA304647800 | INSR | c.499G>A (p.Val167Met) n.474G>A c.577G>A (p.Val193Met) | dbSNP gnomAD v4 COSMIC |
| 19 | g.7267499G>A | CA505481801 | INSR | c.498C>T (p.Ser166=) n.473C>T c.576C>T (p.Ser192=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7267499G>C | CA505481802 | INSR | c.498C>G (p.Ser166=) n.473C>G c.576C>G (p.Ser192=) | |
| 19 | g.7267499G= | CA2320836438 | INSR | c.498C= (p.Ser166=) n.473C= c.576C= (p.Ser192=) | |
| 19 | g.7267499G>T | CA505481803 | INSR | c.498C>A (p.Ser166=) n.473C>A c.576C>A (p.Ser192=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267500G>A | CA304647803 | INSR | c.497C>T (p.Ser166Phe) n.472C>T c.575C>T (p.Ser192Phe) | dbSNP COSMIC COSMIC |
| 19 | g.7267500G>C | CA403159350 | INSR | c.497C>G (p.Ser166Cys) n.472C>G c.575C>G (p.Ser192Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267500G= | CA2320836439 | INSR | c.497C= (p.Ser166=) n.472C= c.575C= (p.Ser192=) | |
| 19 | g.7267500G>T | CA403159351 | INSR | c.497C>A (p.Ser166Tyr) n.472C>A c.575C>A (p.Ser192Tyr) | |
| 19 | g.7267501A>C | CA403159352 | INSR | c.496T>G (p.Ser166Ala) n.471T>G c.574T>G (p.Ser192Ala) | |
| 19 | g.7267501A>G | CA403159353 | INSR | c.496T>C (p.Ser166Pro) n.471T>C c.574T>C (p.Ser192Pro) | |
| 19 | g.7267501A>T | CA403159354 | INSR | c.496T>A (p.Ser166Thr) n.471T>A c.574T>A (p.Ser192Thr) | |
| 19 | g.7267502A>C | CA403159355 | INSR | c.495T>G (p.Asp165Glu) n.470T>G c.573T>G (p.Asp191Glu) | |
| 19 | g.7267502A>G | CA505481804 | INSR | c.495T>C (p.Asp165=) n.470T>C c.573T>C (p.Asp191=) | |
| 19 | g.7267502A>T | CA403159356 | INSR | c.495T>A (p.Asp165Glu) n.470T>A c.573T>A (p.Asp191Glu) | |
| 19 | g.7267503T>A | CA403159358 | INSR | c.494A>T (p.Asp165Val) n.469A>T c.572A>T (p.Asp191Val) | |
| 19 | g.7267503T>C | CA403159359 | INSR | c.494A>G (p.Asp165Gly) n.469A>G c.572A>G (p.Asp191Gly) | |
| 19 | g.7267503T>G | CA403159357 | INSR | c.494A>C (p.Asp165Ala) n.469A>C c.572A>C (p.Asp191Ala) | |
| 19 | g.7267504C>A | CA403159360 | INSR | c.493G>T (p.Asp165Tyr) n.468G>T c.571G>T (p.Asp191Tyr) | |
| 19 | g.7267504C>G | CA403159362 | INSR | c.493G>C (p.Asp165His) n.468G>C c.571G>C (p.Asp191His) | |
| 19 | g.7267504C>T | CA403159361 | INSR | c.493G>A (p.Asp165Asn) n.468G>A c.571G>A (p.Asp191Asn) | |
| 19 | g.7267505C>A | CA505481805 | INSR | c.492G>T (p.Leu164=) n.467G>T c.570G>T (p.Leu190=) | |
| 19 | g.7267505C>G | CA505481806 | INSR | c.492G>C (p.Leu164=) n.467G>C c.570G>C (p.Leu190=) | |
| 19 | g.7267505C>T | CA505481807 | INSR | c.492G>A (p.Leu164=) n.467G>A c.570G>A (p.Leu190=) | |
| 19 | g.7267506A>C | CA403159363 | INSR | c.491T>G (p.Leu164Arg) n.466T>G c.569T>G (p.Leu190Arg) | |
| 19 | g.7267506A>G | CA403159365 | INSR | c.491T>C (p.Leu164Pro) n.466T>C c.569T>C (p.Leu190Pro) | |
| 19 | g.7267506A>T | CA403159364 | INSR | c.491T>A (p.Leu164Gln) n.466T>A c.569T>A (p.Leu190Gln) | |
| 19 | g.7267507G>A | CA505481808 | INSR | c.490C>T (p.Leu164=) n.465C>T c.568C>T (p.Leu190=) | |
| 19 | g.7267507G>C | CA403159366 | INSR | c.490C>G (p.Leu164Val) n.465C>G c.568C>G (p.Leu190Val) | |
| 19 | g.7267507G>T | CA403159367 | INSR | c.490C>A (p.Leu164Met) n.465C>A c.568C>A (p.Leu190Met) | |
| 19 | g.7267508G>A | CA9136113 | INSR | c.489C>T (p.Ile163=) n.464C>T c.567C>T (p.Ile189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267508G>C | CA403159368 | INSR | c.489C>G (p.Ile163Met) n.464C>G c.567C>G (p.Ile189Met) | gnomAD v4 |
| 19 | g.7267508G= | CA2320836440 | INSR | c.489C= (p.Ile163=) n.464C= c.567C= (p.Ile189=) | |
| 19 | g.7267508G>T | CA9136112 | INSR | c.489C>A (p.Ile163=) n.464C>A c.567C>A (p.Ile189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267509A>C | CA403159371 | INSR | c.488T>G (p.Ile163Ser) n.463T>G c.566T>G (p.Ile189Ser) | |
| 19 | g.7267509A>G | CA403159370 | INSR | c.488T>C (p.Ile163Thr) n.463T>C c.566T>C (p.Ile189Thr) | |
| 19 | g.7267509A>T | CA403159369 | INSR | c.488T>A (p.Ile163Asn) n.463T>A c.566T>A (p.Ile189Asn) | |
| 19 | g.7267510T>A | CA403159372 | INSR | c.487A>T (p.Ile163Phe) n.462A>T c.565A>T (p.Ile189Phe) | |
| 19 | g.7267510T>C | CA403159373 | INSR | c.487A>G (p.Ile163Val) n.462A>G c.565A>G (p.Ile189Val) | gnomAD v4 COSMIC COSMIC |
| 19 | g.7267510T>G | CA403159374 | INSR | c.487A>C (p.Ile163Leu) n.462A>C c.565A>C (p.Ile189Leu) | |
| 19 | g.7267511A= | CA2320836441 | INSR | c.486T= (p.Arg162=) n.461T= c.564T= (p.Arg188=) | |
| 19 | g.7267511A>C | CA505481809 | INSR | c.486T>G (p.Arg162=) n.461T>G c.564T>G (p.Arg188=) | |
| 19 | g.7267511A>G | CA505481810 | INSR | c.486T>C (p.Arg162=) n.461T>C c.564T>C (p.Arg188=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267511A>T | CA505481811 | INSR | c.486T>A (p.Arg162=) n.461T>A c.564T>A (p.Arg188=) | |
| 19 | g.7267512C>A | CA9136114 | INSR | c.485G>T (p.Arg162Leu) n.460G>T c.563G>T (p.Arg188Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267512C= | CA2320836442 | INSR | c.485G= (p.Arg162=) n.460G= c.563G= (p.Arg188=) | |
| 19 | g.7267512C>G | CA403159375 | INSR | c.485G>C (p.Arg162Pro) n.460G>C c.563G>C (p.Arg188Pro) | |
| 19 | g.7267512C>T | CA403159376 | INSR | c.485G>A (p.Arg162His) n.460G>A c.563G>A (p.Arg188His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267513G>A | CA403159379 | INSR | c.484C>T (p.Arg162Cys) n.459C>T c.562C>T (p.Arg188Cys) | gnomAD v4 |
| 19 | g.7267513G>C | CA403159377 | INSR | c.484C>G (p.Arg162Gly) n.459C>G c.562C>G (p.Arg188Gly) | |
| 19 | g.7267513G>T | CA403159378 | INSR | c.484C>A (p.Arg162Ser) n.459C>A c.562C>A (p.Arg188Ser) | |
| 19 | g.7267514G>A | CA505481812 | INSR | c.483C>T (p.Ser161=) n.458C>T c.561C>T (p.Ser187=) | |
| 19 | g.7267514G>C | CA505481813 | INSR | c.483C>G (p.Ser161=) n.458C>G c.561C>G (p.Ser187=) | |
| 19 | g.7267514G>T | CA505481814 | INSR | c.483C>A (p.Ser161=) n.458C>A c.561C>A (p.Ser187=) | |
| 19 | g.7267515G>A | CA304647817 | INSR | c.482C>T (p.Ser161Phe) n.457C>T c.560C>T (p.Ser187Phe) | dbSNP COSMIC |
| 19 | g.7267515G>C | CA403159380 | INSR | c.482C>G (p.Ser161Cys) n.457C>G c.560C>G (p.Ser187Cys) | |
| 19 | g.7267515G= | CA2320836443 | INSR | c.482C= (p.Ser161=) n.457C= c.560C= (p.Ser187=) | |
| 19 | g.7267515G>T | CA403159381 | INSR | c.482C>A (p.Ser161Tyr) n.457C>A c.560C>A (p.Ser187Tyr) | gnomAD v4 |
| 19 | g.7267516A>C | CA403159382 | INSR | c.481T>G (p.Ser161Ala) n.456T>G c.559T>G (p.Ser187Ala) | |
| 19 | g.7267516A>G | CA403159383 | INSR | c.481T>C (p.Ser161Pro) n.456T>C c.559T>C (p.Ser187Pro) | |
| 19 | g.7267516A>T | CA403159384 | INSR | c.481T>A (p.Ser161Thr) n.456T>A c.559T>A (p.Ser187Thr) | |
| 19 | g.7267517C>A | CA403159385 | INSR | c.480G>T (p.Trp160Cys) n.455G>T c.558G>T (p.Trp186Cys) | |
| 19 | g.7267517C>G | CA403159386 | INSR | c.480G>C (p.Trp160Cys) n.455G>C c.558G>C (p.Trp186Cys) | |
| 19 | g.7267517C>T | CA403159387 | INSR | c.480G>A (p.Trp160Ter) n.455G>A c.558G>A (p.Trp186Ter) |