| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.46853616_46853631dup | CA2499226727 | RP2 | c.243_258dup (p.Thr87TyrfsTer3) | ClinVar dbSNP |
| X | g.46853631T>A | CA413039136 | RP2 | c.258T>A (p.Cys86Ter) | |
| X | g.46853631T>C | CA516370675 | RP2 | c.258T>C (p.Cys86=) | |
| X | g.46853631T>G | CA413039137 | RP2 | c.258T>G (p.Cys86Trp) | |
| X | g.46853631_46853640delinsTACTAACTGC | CA2427731379 | RP2 | c.258_267delinsTACTAACTGC (p.Cys86=) | |
| X | g.46853632A= | CA2427731380 | RP2 | c.259A= (p.Thr87=) | |
| X | g.46853632A>C | CA413039138 | RP2 | c.259A>C (p.Thr87Pro) | |
| X | g.46853632A>G | CA10394198 | RP2 | c.259A>G (p.Thr87Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46853632A>T | CA413039139 | RP2 | c.259A>T (p.Thr87Ser) | |
| X | g.46853633_46853641del | CA10581717 | RP2 | c.260_268del (p.Thr87_Cys89del) | ClinVar dbSNP |
| X | g.46853633C>A | CA413039140 | RP2 | c.260C>A (p.Thr87Asn) | |
| X | g.46853633C= | CA2427731381 | RP2 | c.260C= (p.Thr87=) | |
| X | g.46853633C>G | CA413039141 | RP2 | c.260C>G (p.Thr87Ser) | |
| X | g.46853633C>T | CA201653 | RP2 | c.260C>T (p.Thr87Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.46853634T>A | CA516370682 | RP2 | c.261T>A (p.Thr87=) | |
| X | g.46853634T>C | CA516370683 | RP2 | c.261T>C (p.Thr87=) | |
| X | g.46853634T>G | CA516370685 | RP2 | c.261T>G (p.Thr87=) | |
| X | g.46853637_46853644del | CA2695233376 | RP2 | c.264_271del (p.Cys89PhefsTer?) | |
| X | g.46853635A>C | CA413039142 | RP2 | c.262A>C (p.Asn88His) | gnomAD v4 |
| X | g.46853635A>G | CA413039143 | RP2 | c.262A>G (p.Asn88Asp) | |
| X | g.46853635A>T | CA413039144 | RP2 | c.262A>T (p.Asn88Tyr) | |
| X | g.46853636A>C | CA413039147 | RP2 | c.263A>C (p.Asn88Thr) | gnomAD v4 |
| X | g.46853636A>G | CA413039146 | RP2 | c.263A>G (p.Asn88Ser) | |
| X | g.46853636A>T | CA413039145 | RP2 | c.263A>T (p.Asn88Ile) | |
| X | g.46853637C>A | CA413039148 | RP2 | c.264C>A (p.Asn88Lys) | |
| X | g.46853637C>G | CA413039149 | RP2 | c.264C>G (p.Asn88Lys) | |
| X | g.46853637C>T | CA516370691 | RP2 | c.264C>T (p.Asn88=) | |
| X | g.46853638T>A | CA413039150 | RP2 | c.265T>A (p.Cys89Ser) | |
| X | g.46853638T>C | CA413039151 | RP2 | c.265T>C (p.Cys89Arg) | ClinVar |
| X | g.46853638T>G | CA413039152 | RP2 | c.265T>G (p.Cys89Gly) | |
| X | g.46853639G>A | CA413039153 | RP2 | c.266G>A (p.Cys89Tyr) | |
| X | g.46853639G>C | CA413039154 | RP2 | c.266G>C (p.Cys89Ser) | |
| X | g.46853639G>T | CA413039155 | RP2 | c.266G>T (p.Cys89Phe) | |
| X | g.46853640C>A | CA413039156 | RP2 | c.267C>A (p.Cys89Ter) | COSMIC |
| X | g.46853640C>G | CA413039157 | RP2 | c.267C>G (p.Cys89Trp) | |
| X | g.46853640C>T | CA516370697 | RP2 | c.267C>T (p.Cys89=) | |
| X | g.46853641A= | CA2427731382 | RP2 | c.268A= (p.Ile90=) | |
| X | g.46853641A>C | CA413039158 | RP2 | c.268A>C (p.Ile90Leu) | |
| X | g.46853641A>G | CA10394199 | RP2 | c.268A>G (p.Ile90Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.46853641A>T | CA413039159 | RP2 | c.268A>T (p.Ile90Leu) | |
| X | g.46853642T>A | CA413039160 | RP2 | c.269T>A (p.Ile90Lys) | |
| X | g.46853642T>C | CA413039162 | RP2 | c.269T>C (p.Ile90Thr) | |
| X | g.46853642T>G | CA413039161 | RP2 | c.269T>G (p.Ile90Arg) | |
| X | g.46853643A>C | CA516370700 | RP2 | c.270A>C (p.Ile90=) | |
| X | g.46853643A>G | CA413039163 | RP2 | c.270A>G (p.Ile90Met) | |
| X | g.46853643A>T | CA516370701 | RP2 | c.270A>T (p.Ile90=) | |
| X | g.46853644A= | CA2427731383 | RP2 | c.271A= (p.Ile91=) | |
| X | g.46853644A>C | CA413039164 | RP2 | c.271A>C (p.Ile91Leu) | ClinVar |
| X | g.46853644A>G | CA413039165 | RP2 | c.271A>G (p.Ile91Val) | |
| X | g.46853644A>T | CA10394200 | RP2 | c.271A>T (p.Ile91Phe) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |