| 596947098 | CV3547162 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2172+4932C>A | not provided [RCV004810970] | likely benign | 12 | 51480138 | 51480138 | Human | | name |
| 596945549 | CV3547868 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2172+4824T>C | not provided [RCV004809199] | likely benign | 12 | 51480030 | 51480030 | Human | | name |
| 596946658 | CV3548486 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2172+4833G>A | not provided [RCV004810313] | likely benign | 12 | 51480039 | 51480039 | Human | | name |
| 596947532 | CV3549090 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2172+4815G>A | not provided [RCV004811414] | likely benign | 12 | 51480021 | 51480021 | Human | | name |
| 598129617 | CV3887034 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2172+4923C>T | not provided [RCV005245094] | likely benign | 12 | 51480129 | 51480129 | Human | | name |
| 598129621 | CV3887038 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2172+4881C>T | not provided [RCV005245098] | likely benign | 12 | 51480087 | 51480087 | Human | | name |
| 405728217 | CV3325686 | single nucleotide variant | NM_001039960.3(SLC4A8):c.26C>T (p.Pro9Leu) | not specified [RCV004463999] | uncertain significance | 12 | 51425013 | 51425013 | Human | | name |
| 407515299 | CV3480895 | single nucleotide variant | NM_001039960.3(SLC4A8):c.55G>A (p.Asp19Asn) | not specified [RCV004674870] | uncertain significance | 12 | 51440714 | 51440714 | Human | | name |
| 8634713 | CV89933 | single nucleotide variant | NM_001039960.2(SLC4A8):c.711C>T (p.Ser237=) | Malignant melanoma [RCV000070030] | not provided | 12 | 51457487 | 51457487 | Human | | name |
| 8654042 | CV130617 | single nucleotide variant | NM_001039960.2(SLC4A8):c.1449G>T (p.Leu483=) | Lung cancer [RCV000111104] | uncertain significance | 12 | 51469713 | 51469713 | Human | | name |
| 598245643 | CV3911408 | single nucleotide variant | NM_001039960.3(SLC4A8):c.265G>T (p.Ala89Ser) | not specified [RCV005277028] | uncertain significance | 12 | 51451010 | 51451010 | Human | | name |
| 156061407 | CV2320909 | single nucleotide variant | NM_001039960.3(SLC4A8):c.922G>C (p.Val308Leu) | not specified [RCV004172721] | uncertain significance | 12 | 51460017 | 51460017 | Human | | name |
| 329361011 | CV2463193 | single nucleotide variant | NM_001039960.3(SLC4A8):c.769A>T (p.Thr257Ser) | not specified [RCV004274973] | uncertain significance | 12 | 51458564 | 51458564 | Human | | name |
| 401763881 | CV2700246 | single nucleotide variant | NM_001039960.3(SLC4A8):c.922G>A (p.Val308Met) | not specified [RCV004310914] | uncertain significance | 12 | 51460017 | 51460017 | Human | | name |
| 401864609 | CV2760978 | single nucleotide variant | NM_001039960.3(SLC4A8):c.521T>C (p.Ile174Thr) | not specified [RCV004338653] | uncertain significance | 12 | 51453646 | 51453646 | Human | | name |
| 405728238 | CV3325688 | single nucleotide variant | NM_001039960.3(SLC4A8):c.556A>G (p.Ser186Gly) | not specified [RCV004464001] | uncertain significance | 12 | 51453681 | 51453681 | Human | | name |
| 405728246 | CV3325689 | single nucleotide variant | NM_001039960.3(SLC4A8):c.707G>T (p.Arg236Leu) | not specified [RCV004464002] | uncertain significance | 12 | 51457483 | 51457483 | Human | | name |
| 405728253 | CV3325690 | single nucleotide variant | NM_001039960.3(SLC4A8):c.772G>A (p.Val258Met) | not specified [RCV004464003] | uncertain significance | 12 | 51458567 | 51458567 | Human | | name |
| 407515302 | CV3480896 | single nucleotide variant | NM_001039960.3(SLC4A8):c.559A>G (p.Ile187Val) | not specified [RCV004674871] | uncertain significance | 12 | 51453684 | 51453684 | Human | | name |
| 407515305 | CV3480897 | single nucleotide variant | NM_001039960.3(SLC4A8):c.905A>G (p.Asn302Ser) | not specified [RCV004674872] | uncertain significance | 12 | 51460000 | 51460000 | Human | | name |
| 150529695 | CV1289387 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1460G>T (p.Cys487Phe) | not provided [RCV001728138] | uncertain significance | 12 | 51469724 | 51469724 | Human | | name |
| 155973487 | CV2211039 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2204T>C (p.Phe735Ser) | not specified [RCV004088224] | uncertain significance | 12 | 51485818 | 51485818 | Human | | name |
| 155921283 | CV2212217 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2241G>T (p.Leu747Phe) | not specified [RCV004089103] | uncertain significance | 12 | 51485855 | 51485855 | Human | | name |
| 156229020 | CV2234938 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1903T>C (p.Tyr635His) | not specified [RCV004113141] | uncertain significance | 12 | 51471531 | 51471531 | Human | | name |
| 155970585 | CV2262254 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2416G>A (p.Val806Ile) | not specified [RCV004128462] | uncertain significance | 12 | 51488828 | 51488828 | Human | | name |
| 156341863 | CV2268322 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2020G>A (p.Glu674Lys) | not specified [RCV004138609] | uncertain significance | 12 | 51475054 | 51475054 | Human | | name |
| 156048802 | CV2271751 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1348C>T (p.Arg450Trp) | not specified [RCV004130595] | uncertain significance | 12 | 51463713 | 51463713 | Human | | name |
| 156140490 | CV2358326 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1942A>T (p.Thr648Ser) | not specified [RCV004214140] | uncertain significance | 12 | 51474379 | 51474379 | Human | | name |
| 156181067 | CV2384048 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2141C>T (p.Thr714Met) | not specified [RCV004225413] | uncertain significance | 12 | 51475175 | 51475175 | Human | | name |
| 401754405 | CV2685258 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1181C>T (p.Thr394Met) | not specified [RCV004289804] | uncertain significance | 12 | 51462389 | 51462389 | Human | | name |
| 401770026 | CV2710826 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2156G>A (p.Arg719His) | not specified [RCV004308749] | uncertain significance | 12 | 51475190 | 51475190 | Human | | name |
| 401865528 | CV2755548 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1508C>T (p.Ala503Val) | not specified [RCV004340128] | uncertain significance | 12 | 51469772 | 51469772 | Human | | name |
| 401884049 | CV2785843 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1751C>T (p.Ser584Phe) | not specified [RCV004365081] | uncertain significance | 12 | 51471379 | 51471379 | Human | | name |
| 405728195 | CV3325683 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1520G>A (p.Arg507His) | not specified [RCV004463996] | uncertain significance | 12 | 51469784 | 51469784 | Human | | name |
| 405728204 | CV3325684 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1963C>A (p.His655Asn) | not specified [RCV004463997] | uncertain significance | 12 | 51474400 | 51474400 | Human | | name |
| 405728209 | CV3325685 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2314A>G (p.Ile772Val) | not specified [RCV004463998] | uncertain significance | 12 | 51488726 | 51488726 | Human | | name |
| 407515296 | CV3480894 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1972G>A (p.Val658Met) | not specified [RCV004674869] | uncertain significance | 12 | 51474409 | 51474409 | Human | | name |
| 407515310 | CV3480899 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1988A>G (p.His663Arg) | not specified [RCV004674874] | uncertain significance | 12 | 51474425 | 51474425 | Human | | name |
| 597766886 | CV3596911 | single nucleotide variant | NM_001039960.3(SLC4A8):c.2543T>A (p.Val848Asp) | not specified [RCV004870707] | uncertain significance | 12 | 51489794 | 51489794 | Human | | name |
| 598245636 | CV3911407 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1639A>G (p.Ile547Val) | not specified [RCV005277027] | uncertain significance | 12 | 51470506 | 51470506 | Human | | name |
| 598245652 | CV3911409 | single nucleotide variant | NM_001039960.3(SLC4A8):c.1673C>T (p.Ser558Leu) | not specified [RCV005277029] | uncertain significance | 12 | 51471301 | 51471301 | Human | | name |
| 8627299 | CV82443 | single nucleotide variant | NM_001039960.2(SLC4A8):c.1033G>A (p.Gly345Ser) | Malignant melanoma [RCV000062522] | not provided | 12 | 51461223 | 51461223 | Human | | name |
| 8634714 | CV89934 | single nucleotide variant | NM_001039960.2(SLC4A8):c.1490G>A (p.Gly497Glu) | Malignant melanoma [RCV000070031] | not provided | 12 | 51469754 | 51469754 | Human | | name |
| 156002580 | CV2257973 | single nucleotide variant | NM_001039960.3(SLC4A8):c.3073G>A (p.Glu1025Lys) | not specified [RCV004129783] | uncertain significance | 12 | 51497116 | 51497116 | Human | | name |
| 155989380 | CV2371936 | single nucleotide variant | NM_001039960.3(SLC4A8):c.3104T>C (p.Ile1035Thr) | not specified [RCV004221618] | uncertain significance | 12 | 51504051 | 51504051 | Human | | name |
| 405728230 | CV3325687 | single nucleotide variant | NM_001039960.3(SLC4A8):c.3083A>G (p.Glu1028Gly) | not specified [RCV004464000] | uncertain significance | 12 | 51504030 | 51504030 | Human | | name |